Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Satb2 MGI:2679336

Gene Summary

Name:

special AT-rich sequence binding protein 2

Synonyms:

BAP002

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased mean corpuscular volume	Satb2^em3(IMPC)Tcp	HET	Early adult	2.23×10^-05
abnormal craniofacial morphology	Satb2^em3(IMPC)Tcp	HOM	E15.5	0.00
abnormal uterus morphology	Satb2^{tm1b(KOMP)Wtsi}	HET	Early adult	0.00
enlarged lymph nodes	Satb2^{tm1b(KOMP)Wtsi}	HET	Early adult	0.00
preweaning lethality, complete penetrance	Satb2^{tm1b(KOMP)Wtsi}	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Satb2^em3(IMPC)Tcp	HET	Early adult	4.47×10^-10
preweaning lethality, complete penetrance	Satb2^em3(IMPC)Tcp	HOM	Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Epididymis	N/A	heterozygote	100% (1 of 1)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	50% (1 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	50% (1 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Testis	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	50% (1 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.67% (4 of 598)
aorta	0.17% (1 of 598)
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
epididymis	14.29% (21 of 147)
esophagus	1.66% (7 of 422)
eye	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
olfactory lobe	0.33% (2 of 598)
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
testis	1% (6 of 598)
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
uterus	0.33% (2 of 598)
vascular system	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

26 Images

View images

X-ray

XRay Images Skull Lateral Orientation

26 Images

View images

Gross Pathology and Tissue Collection

Images

16 Images

View images

MicroCT E14.5-E15.5

Embryo reconstruction

18 Images

View images

X-ray

XRay Images Hind Leg and Hip

16 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

26 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

26 Images

View images

Histopathology

Images

3 Images

View images

Eye Morphology

Images Slit Lamp

6 Images

View images

Eye Morphology

Images Ophthalmoscopy

3 Images

View images

Human diseases caused by Satb2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Satb2 (4 diseases)
Human diseases predicted to be associated with Satb2 (2352 diseases)

The table below shows human diseases associated to Satb2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
2Q32Q33 Microdeletion Syndrome	Convex nasal ridge, High palate, Long philtrum, Micrognathia, Oligodontia, Narrow mouth, Thin ver...	ORPHA:251019
Satb2-Associated Syndrome Due To A Pathogenic Variant	High palate, Long philtrum, Micrognathia, Bifid uvula, Joint hypermobility, Celiac disease, Thin ...	ORPHA:576283
Glass Syndrome	Conical tooth, Pierre-Robin sequence, High palate, Long philtrum, Prominent nasal bridge, Microgn...	OMIM:612313
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Wide nose, Dental malocclusion, Abnormality of upper lip vermillion, Pierre-Robin sequence, High ...	ORPHA:251028

The table below shows human diseases predicted to be associated to Satb2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,...	OMIM:205950
Oligodontia	Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho...	ORPHA:99798
Dentin Dysplasia, Type I	Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss...	OMIM:125400
Cleft Lip/Palate	Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat...	ORPHA:199306
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Amelogenesis Imperfecta	Enamel hypoplasia, Abnormal jaw morphology, Yellow-brown discoloration of the teeth, Enamel hypom...	ORPHA:88661
Pierre Robin Syndrome	Cleft palate, Micrognathia, Pierre-Robin sequence, Glossoptosis	OMIM:261800
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Cleft lower lip, Cleft upper lip, Fusion of gums, Abnormal mandible morpholo...	ORPHA:401942
Otodental Dysplasia	Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age...	OMIM:166750
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume	OMIM:252270
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon...	OMIM:313500
Anonychia-Microcephaly Syndrome	Carious teeth, Microcephaly, Abnormality of the dentition	ORPHA:1094
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel...	ORPHA:83451
Isolated Pierre Robin Syndrome	Cleft palate, Micrognathia, Glossoptosis	ORPHA:718
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Pierre Robin Sequence With Facial And Digital Anomalies	Pierre-Robin sequence, Micrognathia, Short distal phalanx of finger, Cleft palate, Glossoptosis	OMIM:311895
Pierre Robin Syndrome And Oligodactyly	Hand oligodactyly, Cleft palate, Micrognathia, Pierre-Robin sequence	OMIM:172880
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra...	OMIM:206100
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta	OMIM:104530
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Oral synechia, Everted lower lip vermilion, Narrow mouth, Cleft palate	ORPHA:2016
Intrinsic Factor Deficiency	Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean...	OMIM:261000
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Arthrogryposis, Distal, Type 2E	Mild microcephaly, Micrognathia, Narrow mouth, Microcephaly, Trismus	OMIM:121070
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon...	ORPHA:3352
Diamond-Blackfan Anemia 3	Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Micrognathia, Short nose, Thin upper lip vermilion, Anteverted nares, Cleft palate	ORPHA:2015
17Q21.31 Microduplication Syndrome	High palate, Micrognathia, Short philtrum, Short nose, Microcephaly, Anteverted nares, Malar flat...	ORPHA:217340
Otodental Syndrome	Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul...	ORPHA:2791
Peroxisome Biogenesis Disorder 10A (Zellweger)	High palate, Prominent nose, Death in infancy, Micrognathia, Epiphyseal stippling	OMIM:614882
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Narrow mouth, Anteverted nares	ORPHA:1355
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Periodontal Ehlers-Danlos Syndrome	Periodontitis, Microdontia, Premature loss of primary teeth, Atrophy of alveolar ridges, Microgna...	ORPHA:75392
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Anisop...	OMIM:616689
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin	ORPHA:231249
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol...	ORPHA:2972
Hamel Cerebro-Palato-Cardiac Syndrome	Wide nasal bridge, Micrognathia, Narrow mouth, Microcephaly, Malar flattening, Bulbous nose, Clef...	ORPHA:93946
Mohr Syndrome	Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Micrognathia, Porencephalic cyst, Me...	OMIM:252100
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth	OMIM:190320
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Convex nasal ridge, Micrognathia, Abnormal palate morphology, Tooth agenesis, Mesomelia	ORPHA:1277
Melanocytic Nevus Syndrome, Congenital	Long philtrum, Deep philtrum, Narrow nasal ridge, Prominence of the premaxilla, Short nose, Evert...	OMIM:137550
Mesomelic Limb Shortening And Bowing	Retrognathia, Mesomelic leg shortening, Micrognathia, Cleft palate, Mesomelic arm shortening	OMIM:249710
Familial Pseudohyperkalemia	Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu...	ORPHA:90044
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Depressed nasal ridge, Wide nasal bridge, Prominence of the premaxilla, ...	ORPHA:2412
Cleft Palate, Isolated	Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion	OMIM:119540
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Cleft mandible, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of th...	ORPHA:364577
14Q11.2 Microdeletion Syndrome	High palate, Long philtrum, Deep philtrum, Micrognathia, Short nose, Everted lower lip vermilion,...	ORPHA:261120
Uterine Anomalies	Abnormality of the uterus, Bicornuate uterus	OMIM:192000
Alazami-Yuan Syndrome	Underdeveloped nasal alae, High palate, Long philtrum, Prominent nose, Thin upper lip vermilion, ...	OMIM:617126
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Bowen-Conradi Syndrome	Prominent nose, Death in infancy, Micrognathia, Microcephaly, Cryptorchidism, Orofacial cleft	ORPHA:1270
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Long philtrum, Short nose, Downturned corners of mouth, Narrow mouth, Thin...	ORPHA:1906
Microcephaly 4, Primary, Autosomal Recessive	Micrognathia, Low hanging columella, Cerebellar vermis hypoplasia, Primary microcephaly	OMIM:604321
Bowen-Conradi Syndrome	Micrognathia, Prominent nose, Microcephaly	OMIM:211180
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Convex nasal ridge, Short 5th metacarpal, Short middle phalanx of the 5th finger, Osteoporosis of...	OMIM:156510
Holoprosencephaly 9	Optic nerve hypoplasia, Cleft palate, Bilateral cleft lip and palate, Agenesis of incisor, Single...	OMIM:610829
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,...	OMIM:204650
Robin Sequence-Oligodactyly Syndrome	Micrognathia, Hand oligodactyly, Cleft palate, Glossoptosis, Abnormality of the dentition	ORPHA:3104
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Mandibular aplasia, Depressed nasal ridge, Micrognathia, Gingival fibromatosis, Med...	ORPHA:1832
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Micrognathia, Frontal cortical atrophy, Depressed nasal bridge, Narrow mouth, Microcephaly, Thin ...	OMIM:618766
Distal Monosomy 1Q	Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Depressed nasal bridge, Microcephaly, Sm...	ORPHA:36367
Holoprosencephaly 7	Wide nasal bridge, Median cleft lip, Hypoplastic nasal septum, Depressed nasal tip, Cleft palate,...	OMIM:610828
Intellectual Disability, Wolff Type	Camptodactyly of finger, Non-midline cleft lip, Wide nasal bridge, Thick lower lip vermilion, Mic...	ORPHA:3080
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies	Thick upper lip vermilion, Wide nasal bridge, Thick lower lip vermilion, Short philtrum, Broad na...	OMIM:600093
Sonoda Syndrome	Depressed nasal bridge, Narrow mouth	OMIM:270460
Atkin-Flaitz Syndrome	Thick vermilion border, Macrocephaly, Maxillary lateral incisor microdontia, Everted lower lip ve...	ORPHA:1193
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft lip, Bilateral cleft palate, Cryptorchidism, Bulbous...	OMIM:616788
Taurodontism	Taurodontia	OMIM:272700
Hyperparathyroidism 4	Hypercalcemia, Osteopenia	OMIM:617343
Weaver-Williams Syndrome	Cleft palate, Narrow mouth, Microcephaly	ORPHA:3448
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Micrognathia, Short nose, Abnormal palate morphology, Narrow mouth, Microcephaly, Hypoplasia of t...	ORPHA:1495
Filippi Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Hypodontia, Microdontia, Abnormality of dental morp...	OMIM:272440
Adenylosuccinate Lyase Deficiency	Long philtrum, Hypointensity of cerebral white matter on MRI, Short nose, Thin upper lip vermilio...	ORPHA:46
Maxillonasal Dysplasia	Vertebral clefting, Abnormal nostril morphology, Mandibular prognathia, Patchy distortion of vert...	ORPHA:1248
Rhiny	Thin vermilion border, Anteverted nares, Short nose	OMIM:180360
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	Prominent nose, Micrognathia, Long nasal bridge, Abnormal cerebral white matter morphology, Thin ...	OMIM:617755
Amelogenesis Imperfecta, Type Iv	Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:104510
Oculoauriculofrontonasal Syndrome	Underdeveloped nasal alae, Wide nose, Micrognathia, Macrocephaly, Narrow mouth, Bifid nasal tip, ...	ORPHA:398156
Splenogonadal Fusion With Limb Defects And Micrognathia	Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors, Stillbirth	OMIM:183300
Maxillonasal Dysplasia, Binder Type	Dental malocclusion, Short columella, Depressed nasal bridge, Short nose	OMIM:155050
Microcephaly-Microcornea Syndrome, Seemanova Type	Retrognathia, Narrow mouth, High palate, Microcephaly	ORPHA:2528
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Dehydrated Hereditary Stomatocytosis	Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly...	ORPHA:3202
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Osteolysis, Broad nasal tip, Short distal phalanx of finger, Abnormali...	ORPHA:2776
Isolated Congenital Hypoglossia/Aglossia	Temporomandibular joint ankylosis, Micrognathia, Aplasia/Hypoplasia of fingers, Microglossia, Cle...	ORPHA:141152
Charlie M Syndrome	Non-midline cleft lip, Wide nasal bridge, Micrognathia, Short philtrum, Narrow mouth, Tooth agene...	ORPHA:1406
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome	Micrognathia, Abnormality of the ovary, Mandibular condyle hypoplasia, Hypoplasia of the premaxilla	ORPHA:2975
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Short nose, Hypoplasia of the maxil...	ORPHA:1529
Rubinstein-Taybi Syndrome 2	Retrognathia, Talon cusp, Dental malocclusion, Convex nasal ridge, Narrow palate, High palate, Pr...	OMIM:613684
3Mc Syndrome 2	Cleft upper lip, High palate, Limited elbow movement, Wide nasal bridge, Prominent nasal bridge, ...	OMIM:265050
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Wide mouth, Wide nasal bridge, Macroglossia, ...	OMIM:618729
Autism, Susceptibility To, X-Linked 6	Underdeveloped nasal alae, Narrow mouth, Short philtrum	OMIM:300872
Bone Marrow Failure And Diabetes Mellitus Syndrome	T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume	OMIM:620044
Malan Syndrome	Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, S...	OMIM:614753
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Catel-Manzke Syndrome	Camptodactyly of finger, Micrognathia, Oral synechia, Scoliosis, Joint hyperflexibility, Cleft pa...	ORPHA:1388
Sickle Cell Anemia	Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt...	ORPHA:232
Auriculocondylar Syndrome 2	Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath...	OMIM:614669
Regional Odontodysplasia	Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta...	ORPHA:83450
Non-Distal Trisomy 10Q	Convex nasal ridge, High palate, Micrognathia, Short nose, Everted lower lip vermilion, Depressed...	ORPHA:1695
Holoprosencephaly-Postaxial Polydactyly Syndrome	Absent nares, Aplasia/Hypoplasia of the corpus callosum, Hypoplasia of the premaxilla, Cerebellar...	ORPHA:2166
Osteolysis Syndrome, Recessive	Knee flexion contracture, Elbow flexion contracture, Hypoplasia of the maxilla, Metacarpal osteol...	OMIM:259610
Congenital Myopathy 16	Micrognathia, Narrow mouth, High palate, Prominent nasolabial fold	OMIM:618524
Multiple Epiphyseal Dysplasia, Lowry Type	Knee flexion contracture, Genu valgum, Rhizomelia, Fixed elbow flexion, Micrognathia, Dislocated ...	ORPHA:166016
Dentin Dysplasia	Increased bone mineral density, Abnormality of dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
W Syndrome	Agenesis of maxillary central incisor, Upper lip pit, Submucous cleft hard palate, Hypoplasia of ...	ORPHA:2804
Orofaciodigital Syndrome Type 2	Short tibia, Bifid tongue, Wide nasal bridge, Micrognathia, Taurodontia, Abnormal oral frenulum m...	ORPHA:2751
Cranioectodermal Dysplasia	Rhizomelia, Microdontia, Hypodontia, Taurodontia, Everted lower lip vermilion, Anteverted nares, ...	ORPHA:1515
Parc Syndrome	Cleft palate, Microretrognathia	OMIM:600331
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Supernumerary tooth, Cerebral calcification, Hypoplasia of the zygomatic bone, Cari...	ORPHA:3145
Intellectual Disability, Birk-Barel Type	Incisor macrodontia, Congenital finger flexion contractures, Foot joint contracture, Micrognathia...	ORPHA:166108
Clark-Baraitser syndrome	Genu valgum, Kyphosis, Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated med...	OMIM:300602
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Wide mouth, Macrocephaly, Short philtrum, Short nose, Everted lower lip ve...	ORPHA:2429
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft mandible, Short tibia, Short 5th finger, Cleft lower alveolar ridge, Micrognathia, Bifid uv...	OMIM:268305
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Osteopenia, Hyperc...	OMIM:617994
Mitochondrial Myopathy And Sideroblastic Anemia	High palate, Long philtrum, Micrognathia, Short nose, Microcephaly	ORPHA:2598
20P12.3 Microdeletion Syndrome	Long philtrum, Wide nasal bridge, Macrocephaly, Hypoplasia of the maxilla, Depressed nasal bridge...	ORPHA:261295
Chromosome 22Q11.2 Duplication Syndrome	High palate, Depressed nasal ridge, Micrognathia, Velopharyngeal insufficiency, Microcephaly	OMIM:608363
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Underdeveloped nasal alae, Depressed nasal ridge, Deep philtrum, Kyphosis, Wide nasal bridge, Mic...	ORPHA:77300
Orofacial Cleft 11	Cleft palate, Cleft lip	OMIM:600625
Frontonasal Dysplasia 1	Anterior basal encephalocele, Cranium bifidum occultum, Joint contracture of the hand, Hypoplasti...	OMIM:136760
Faciocardiomelic Dysplasia, Lethal	Retrognathia, Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, N...	OMIM:227270
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus...	ORPHA:3207
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Microdontia, Short nose, Delayed eruption of permanent teeth, Narrow mouth, Microce...	OMIM:619356
Whistling Face Syndrome, Recessive Form	Underdeveloped nasal alae, High palate, Long philtrum, Micrognathia, Narrow mouth, Microglossia, ...	OMIM:277720
17P13.3 Microduplication Syndrome	Wide nose, High palate, Short nose, Narrow mouth, Hypoplasia of the corpus callosum	ORPHA:217385
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome	Pierre-Robin sequence, Micrognathia, Downturned corners of mouth, Narrow mouth, Whistling appeara...	ORPHA:1150
Atkin-Flaitz Syndrome	Genu valgum, Kyphosis, Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated med...	OMIM:300431
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth...	ORPHA:98870
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he...	ORPHA:3203
Microphthalmia With Limb Anomalies	Short tibia, Cleft upper lip, High palate, Long philtrum, Hypoplasia of the premaxilla, Death in ...	ORPHA:1106
Aarskog-Scott Syndrome	Camptodactyly of finger, Cleft upper lip, Long philtrum, Short foot, Delayed eruption of teeth, S...	ORPHA:915
Arthrogryposis, Distal, Type 1C	Retrognathia, Limited head rotation, Camptodactyly of finger, Wrist flexion contracture, High pal...	OMIM:619110
Mmep Syndrome	Mandibular prognathia, Orofacial cleft, Median cleft lip	ORPHA:3434
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short toe, Abnormal mandible morphology, Short 4th metacarpal, Hypodontia, Submucous cleft hard p...	ORPHA:3201
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Intermediate Osteopetrosis	Dental malocclusion, Increased susceptibility to fractures, Osteomyelitis, Recurrent fractures, A...	ORPHA:210110
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Short nose, Delayed eruption of permanent teeth, Microcephaly, Anteverted nares, Exag...	OMIM:618506
Fetal Akinesia Deformation Sequence 4	Retrognathia, 11 pairs of ribs, Prenatal death, High palate, Broad neck, Kyphosis, Wide nasal bri...	OMIM:618393
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Long philtrum, Micrognathia, Cleft palate, Malar flattening, Glossoptosis, Osteoarthritis	ORPHA:166100
Trisomy 8Q	Camptodactyly of finger, Non-midline cleft lip, Bifid tongue, High palate, Myelomeningocele, Wide...	ORPHA:1752
Elliptocytosis 3	Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis	OMIM:617948
Lowry-Maclean Syndrome	Cleft palate, Convex nasal ridge, Microcephaly, Delayed eruption of teeth	OMIM:600252
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Joint laxity, Dental crowding, Hyperplasia of the maxilla, Open bite	OMIM:613671
Intellectual Developmental Disorder, Autosomal Dominant 26	Deep philtrum, Wide mouth, Wide nasal bridge, Micrognathia, Prominent nasal tip, Short philtrum, ...	OMIM:615834
Weyers Ulnar Ray/Oligodactyly Syndrome	Cleft upper lip, Absent thumb, High palate, Hypoplasia of the radius, Micrognathia, Solitary medi...	OMIM:602418
Split-Hand/Foot Malformation 3	High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate	OMIM:246560
Fatty Acyl-Coa Reductase 1 Deficiency	Long philtrum, Short nose, Thin upper lip vermilion, Depressed nasal bridge, Progressive microcep...	ORPHA:438178
Microphthalmia, Syndromic 8	Cleft upper lip, Mandibular prognathia, Widely-spaced maxillary central incisors, Cleft palate, O...	OMIM:601349
Burn-Mckeown Syndrome	Wide nasal bridge, Short nose, Bilateral choanal atresia, Abnormal palate morphology, Prominent n...	ORPHA:1200
Warburg Micro Syndrome 1	Perisylvian polymicrogyria, Wide nasal bridge, Cerebellar hypoplasia, Micrognathia, Narrow mouth,...	OMIM:600118
Peroxisome Biogenesis Disorder 12A (Zellweger)	Delayed closure of the anterior fontanelle, Prominent nose, Wide anterior fontanel, Wide nasal br...	OMIM:614886
Distal Monosomy 10P	Non-midline cleft lip, Convex nasal ridge, Webbed neck, Abnormality of the elbow, Ectopic anus, W...	ORPHA:1580
Intellectual Developmental Disorder, X-Linked 91	High palate, Macrodontia, Short nose	OMIM:300577
Peho-Like Syndrome	Retrognathia, Lissencephaly, Short nose, Progressive microcephaly, Pachygyria, Hypoplasia of the ...	OMIM:617507
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Leukoencephalopathy, Narrow palate, Thick lower lip vermilion, Broad columella, Narrow mouth, Car...	ORPHA:457365
Hypomandibular Faciocranial Dysostosis	Choanal stenosis, Coronal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Pursed lips,...	OMIM:241310
Nemaline Myopathy 9	High palate, Micrognathia, Scoliosis, Cleft palate, Arthrogryposis multiplex congenita	OMIM:615731
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi...	OMIM:616860
Treacher Collins Syndrome 4	Choanal stenosis, Micrognathia, Microcephaly, Cleft palate, Malar flattening	OMIM:618939
Pallister-Hall-Like Syndrome	Short ribs, Death in infancy, Micrognathia, Hip dislocation, Median cleft lip, Short nose, Depres...	OMIM:241800
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise	ORPHA:206599
Phenobarbital Embryopathy	Mandibular prognathia, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology, Malar flatt...	ORPHA:1919
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum	Alveolar process hypoplasia, Eruption failure, Delayed eruption of primary teeth, Multiple non-er...	OMIM:273050
Cerebrooculofacioskeletal Syndrome 3	Cerebellar hypoplasia, Micrognathia, Microcephaly, Cleft palate, Agenesis of corpus callosum	OMIM:616570
Stickler Syndrome Type 1	Long philtrum, Short nose, Hypoplasia of the maxilla, Joint hyperflexibility, Platyspondyly, Clef...	ORPHA:90653
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Bone cyst	ORPHA:2668
Cleft Lip With Or Without Cleft Palate	Non-midline cleft lip, Submucous cleft of soft and hard palate, Chronic sinusitis, Median cleft l...	ORPHA:1991
Pilodental Dysplasia With Refractive Errors	Conical incisor, Hypodontia, Wide nasal bridge	OMIM:262020
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia...	OMIM:300946
Gnathodiaphyseal Dysplasia	Broad jaw, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia	ORPHA:53697
Alazami Syndrome	Wide nose, Wide mouth, Widely spaced teeth, Wide nasal bridge, Short philtrum, Depressed nasal br...	OMIM:615071
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Micr...	ORPHA:2521
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Retrognathia, Macrocephaly, Short nose, Broad nasal tip, Malar flattening, Open mouth	OMIM:613670
Orofacial Cleft 13	Retrognathia, Cleft soft palate, Micrognathia, Oligodontia, Malar flattening	OMIM:613857
Dysostosis, Stanescu Type	Hyperlordosis, Convex nasal ridge, Kyphosis, Massively thickened long bone cortices, Abnormal nas...	ORPHA:1798
Monosomy 5P	High palate, Small hand, Wide nasal bridge, Recurrent fractures, Microretrognathia, Short neck, S...	ORPHA:281
Neurofaciodigitorenal Syndrome	Abnormality of the philtrum, Mandibular prognathia, Hypoplasia of the premaxilla, Abnormal oral m...	ORPHA:2673
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Underdeveloped nasal alae, High palate, Delayed eruption of teeth, Abnormality of dental morpholo...	ORPHA:2025
Hypophosphatasia, Adult	Increased susceptibility to fractures, Recurrent fractures, Osteomalacia, Arthropathy, Premature ...	OMIM:146300
Amelogenesis Imperfecta, Type Ij	Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite	OMIM:617297
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis, Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth	OMIM:125440
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Abnormal mandible morphology, Natal tooth	OMIM:217150
Elsahy-Waters Syndrome	Abnormality of the anus, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, Anal stenosis...	OMIM:211380
Intellectual Developmental Disorder, Autosomal Dominant 21	Incisor macrodontia, Long philtrum, Narrow mouth, Thin vermilion border, Microcephaly, Cleft palate	OMIM:615502
Trichorhinophalangeal Syndrome, Type Iii	Underdeveloped nasal alae, Short metatarsal, Long philtrum, Short foot, Short metacarpal, Short f...	OMIM:190351
Burn-Mckeown Syndrome	Underdeveloped nasal alae, Cleft upper lip, Mandibular prognathia, Bilateral choanal atresia/sten...	OMIM:608572
Lethal Recessive Chondrodysplasia	Micrognathia, Limb undergrowth, Macroglossia, Micromelia	ORPHA:1423
Chand Syndrome	Bifid tongue, Commissural lip pit, Abnormal oral frenulum morphology, Agenesis of permanent teeth...	ORPHA:1401
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla	OMIM:618383
Atelosteogenesis, Type Iii	Rhizomelia, Micrognathia, Cervical kyphosis, Flat acetabular roof, Elbow dislocation, Hypoplasia ...	OMIM:108721
Arthrogryposis, Distal, Type 7	Distal arthrogryposis, Deep philtrum, Micrognathia, Hip dislocation, Arthrogryposis multiplex con...	OMIM:158300
Bardet-Biedl Syndrome 7	Malar flattening, Depressed nasal bridge, Narrow mouth	OMIM:615984
Ring Chromosome 8 Syndrome	Abnormal palate morphology, Anteverted nares, Short nose	ORPHA:1450
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre...	OMIM:615234
Tetrasomy 18P	Long philtrum, Short nose, Narrow mouth, Microcephaly, Thin vermilion border	ORPHA:3307
2Q32Q33 Microdeletion Syndrome	Convex nasal ridge, High palate, Long philtrum, Micrognathia, Oligodontia, Narrow mouth, Thin ver...	ORPHA:251019
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures	Widely-spaced incisors, Hypoplasia of the maxilla, Thin upper lip vermilion, Progressive microcep...	OMIM:618737
Multiple Pterygium Syndrome, X-Linked	Increased susceptibility to fractures, Cleft upper lip, Vertebral fusion, Joint dislocation, Abno...	OMIM:312150
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Lujan-Fryns Syndrome	Camptodactyly of finger, High palate, Micrognathia, Short philtrum, Hypoplasia of the maxilla, Sc...	ORPHA:776
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Depressed nasal ridge, Micrognathia, Narrow mouth, Microcephaly, Thin vermilion border	ORPHA:1046
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Short 5th finger, Micrognathia, Thin upper lip vermilion, Anteverted nares, Tooth malposition	OMIM:618608
Chromosome 6Q11-Q14 Deletion Syndrome	High palate, Long philtrum, Primary microcephaly, Micrognathia, Short nose, Thin upper lip vermil...	OMIM:613544
Split-Foot Deformity With Mandibulofacial Dysostosis	Cleft palate, Micrognathia, Malar flattening	OMIM:183700
Lowry-Maclean Syndrome	Midgut malrotation, Talon cusp, Retrognathia, Convex nasal ridge, Short nasal bridge, Delayed eru...	ORPHA:2409
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Genu valgum, Widely-spaced incisors, Irregular vertebral endplates, Short femoral neck, Oligodont...	OMIM:601668
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Micrognathia, Bifid nose, Narrow mouth, Broad nasal tip, Microcephaly, Cleft palate	OMIM:239800
Multicentric Carpotarsal Osteolysis Syndrome	Wrist swelling, Micrognathia, Metatarsal osteolysis, Hypoplasia of the maxilla, Metacarpal osteol...	OMIM:166300
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal nasal morphology, Macrocephaly, Depressed nasal bridge, Narrow mouth, Megalencephaly, Po...	ORPHA:83473
Ohdo Syndrome	Long philtrum, Wide nasal bridge, Widely spaced teeth, Micrognathia, Short nose, Depressed nasal ...	OMIM:249620
Combined Oxidative Phosphorylation Deficiency 25	Long philtrum, Wide nasal bridge, Short nose, Depressed nasal bridge, Anteverted nares, Cerebral ...	OMIM:616430
Clark-Baraitser Syndrome	High palate, Long philtrum, Wide mouth, Short philtrum, Short nose, Thin upper lip vermilion, Dow...	OMIM:617752
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, High palate, Kyphosis, Hypoplasia of the maxilla, Scoliosis, Prominent nas...	OMIM:300676
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Macrocephaly, Short nose, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Malar flattening	ORPHA:2835
Momo Syndrome	Short sternum, Dental malocclusion, High palate, Long philtrum, Wide nasal bridge, Delayed erupti...	OMIM:157980
Cleidocranial Dysplasia 2	Genu valgum, Aplastic clavicle, Delayed eruption of primary teeth, Wide anterior fontanel, Delaye...	OMIM:620099
Genitopalatocardiac Syndrome	Cleft palate, Cleft upper lip, Micrognathia	OMIM:231060
Trisomy 18-Like Syndrome	Micrognathia, Wide nasal bridge	OMIM:601161
Pyle Disease	Thin bony cortex, Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed erupti...	OMIM:265900
Hemifacial Atrophy, Progressive	Dental malocclusion, Short mandibular rami, Tongue atrophy, Delayed eruption of teeth	OMIM:141300
Acromegaloid Facial Appearance Syndrome	Short 5th metacarpal, Deep philtrum, Micrognathia, Bulbous nose, Thick nasal alae, Thick vermilio...	OMIM:102150
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia	OMIM:618849
Braddock-Carey Syndrome 2	Retrognathia, Pierre-Robin sequence, Wide mouth, Microcephaly, Cleft palate, Bulbous nose	OMIM:619981
Meier-Gorlin Syndrome 8	Micrognathia, Narrow mouth, Thick vermilion border	OMIM:617564
Craniolenticulosutural Dysplasia	Wide nose, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Prominent nasal bri...	ORPHA:50814
Bonnemann-Meinecke-Reich Syndrome	Micrognathia, Decreased response to growth hormone stimulation test, Cerebral calcification, Micr...	ORPHA:1261
Skraban-Deardorff Syndrome	Thick upper lip vermilion, Widely spaced teeth, Micrognathia, Hyperplasia of the maxilla, Depress...	OMIM:617616
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Long philtrum, Wide mouth, Wide nasal bridge, Short philtrum, Downturned corners of mouth, Narrow...	OMIM:617333
Pycnodysostosis	Delayed cranial suture closure, Convex nasal ridge, Micrognathia, Increased bone mineral density,...	ORPHA:763
Auriculocondylar Syndrome 1	Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia, Macrocephaly, Dental crowding, ...	OMIM:602483
Acromicric Dysplasia	Long philtrum, Thick lower lip vermilion, Short nose, Narrow mouth, Anteverted nares, Bulbous nose	ORPHA:969
Teebi Hypertelorism Syndrome 2	High palate, Delayed eruption of teeth, Microdontia, Short nose, Everted lower lip vermilion, Thi...	OMIM:619736
Schilbach-Rott Syndrome	Prominent nose, Micrognathia, Bifid uvula, Submucous cleft hard palate, Narrow mouth, Microcephal...	OMIM:164220
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Advanced ossification of carpal bones, Micrognathia, Tooth agenesis, Amelogenesis imperfecta, Cle...	OMIM:618363
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Convex nasal ridge, Downturned corners of mouth, Hypoplasia of the zygomat...	ORPHA:1110
Dental Anomalies And Short Stature	Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Narrow vertebral interpedic...	OMIM:601216
Acrofacial Dysostosis, Palagonia Type	Short 4th metacarpal, Small hand, Micrognathia, Oligodontia, Supernumerary tooth, Spina bifida oc...	ORPHA:1787
Chromosome 4Q21 Deletion Syndrome	Long philtrum, Cerebral hypoplasia, Short philtrum, Downturned corners of mouth, Narrow mouth	OMIM:613509
Nance-Horan Syndrome	Supernumerary maxillary incisor, Screwdriver-shaped incisors, Prominent nose, Mulberry molar, Dia...	OMIM:302350
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Marshall-Smith Syndrome	Irregular dentition, Microdontia, Gingival overgrowth, Glossoptosis, Choanal atresia, Short mandi...	OMIM:602535
Intellectual Disability And Myopathy Syndrome	Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Thin upper lip vermilion, ...	OMIM:619719
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Generalized osteoporosis, Hypercalcemia, Osteopenia	ORPHA:99879
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Thin vermilion border, Narrow mouth, Short nose	ORPHA:2370
Seckel Syndrome 2	Prominent nose, Cerebellar hypoplasia, Microdontia, Micrognathia, Microglossia, Microcephaly	OMIM:606744
Cleidocranial Dysplasia	Delayed eruption of teeth, Micrognathia, Spina bifida occulta, Cleft palate, Glossoptosis, Abnorm...	ORPHA:1452
Xk Aprosencephaly Syndrome	Abnormal nostril morphology, Narrow mouth, Anal atresia, Microcephaly	ORPHA:3469
Atelosteogenesis, Type Ii	Death in infancy, Micrognathia, Depressed nasal bridge, Limb undergrowth, Short middle phalanx of...	OMIM:256050
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cerebral cortical atrophy, High palate, Micrognathia, Short philtrum, Everted lower lip vermilion...	ORPHA:1387
Orofaciodigital Syndrome Xvii	Retrognathia, Prominent nose, Short middle phalanx of the 2nd finger, Median cleft lip, Short nec...	OMIM:617926
Orofaciodigital Syndrome Xix	Retrognathia, Lobulated tongue, Underdeveloped nasal alae, Narrow palate, Cleft soft palate, High...	OMIM:620107
Trisomy 18P	Underdeveloped nasal alae, Wide nasal bridge, Micrognathia, Pyloric stenosis, Narrow mouth, Micro...	ORPHA:1715
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia, Oligodontia of primary teeth, Agenesis of permanent molar	OMIM:604625
Ck Syndrome	Retrognathia, Hyperlordosis, High palate, Kyphosis, Micrognathia, Abnormal cortical bone morpholo...	OMIM:300831
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Short nose, Broad nasal tip, Microcephaly, Cerebral atrophy, Tented upper lip ...	OMIM:614207
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Deep philtrum, Bilateral cleft lip, Death in infancy, Bifid uvula, Short p...	OMIM:618622
Oculodentodigital Dysplasia, Autosomal Recessive	Underdeveloped nasal alae, Dental malocclusion, Macrodontia of permanent maxillary central inciso...	OMIM:257850
Snijders Blok-Campeau Syndrome	Enamel hypoplasia, High palate, Prominent nose, Wide nasal bridge, Widely spaced teeth, Thin corp...	OMIM:618205
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel	OMIM:613211
Amish Lethal Microcephaly	Cleft soft palate, Death in infancy, Spina bifida, Micrognathia, Limitation of joint mobility, De...	ORPHA:99742
8Q22.1 Microdeletion Syndrome	Camptodactyly of finger, Abnormal nostril morphology, Long philtrum, Wide nasal bridge, Depressed...	ORPHA:178303
Seckel Syndrome 5	Retrognathia, Enamel hypoplasia, 11 pairs of ribs, Convex nasal ridge, High palate, Abnormal cort...	OMIM:613823
Orofaciodigital Syndrome Type 5	Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p...	ORPHA:2919
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism	Cleft upper lip, Depressed nasal ridge, Anterior hypopituitarism, Limb undergrowth, Micromelia, C...	OMIM:601016
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Wide nose, Microcephaly, Wide mouth	OMIM:113477
Robinow Syndrome, Autosomal Dominant 2	Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Gingival overgrowth, Calvarial oste...	OMIM:616331
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Short 5th metacarpal, Supernumerary tooth, Abnormality of the dentition	ORPHA:1264
Split Lower Lip	Abnormal lower lip morphology, Narrow maxilla, Lower lip pit, Abnormality of the dentition	OMIM:183400
Rapp-Hodgkin Syndrome	Conical tooth, Enamel hypoplasia, Cleft upper lip, Underdeveloped nasal alae, Microdontia, Hypodo...	OMIM:129400
Oculomaxillofacial Dysostosis	Camptodactyly of finger, Underdeveloped nasal alae, Wide nasal bridge, Micrognathia, Median cleft...	ORPHA:1794
Cardioacrofacial Dysplasia 1	Conical tooth, Overhanging nasal tip, Short philtrum, Diastema, Hypoplasia of the maxilla, Limb u...	OMIM:619142
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Narrow palate, Exaggerated median tongue furrow, Hyperplasia of the maxilla, Bu...	ORPHA:313892
X-Linked Intellectual Disability, Siderius Type	Cleft upper lip, Broad nasal tip, Scoliosis, Low posterior hairline, Orofacial cleft	ORPHA:85287
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Hypoplasia of the zygomatic bone, Long philtrum, Anteverted nares, Wide nose	ORPHA:3074
Acromicric Dysplasia	Long philtrum, Deep philtrum, Thick lower lip vermilion, Narrow mouth, Anteverted nares, Bulbous ...	OMIM:102370
Lambotte Syndrome	Retrognathia, Convex nasal ridge, Narrow mouth, Microcephaly	OMIM:245552
Carey-Fineman-Ziter Syndrome 2	Underdeveloped nasal alae, Long philtrum, Abnormal nasal septum morphology, Micrognathia, Velopha...	OMIM:619941
Nager Syndrome	Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Wide mouth, Hypoplasia of the radius, Mic...	ORPHA:245
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, High palate, Wide anterior fontanel, Kyphosis, Abnormality of the elbow,...	ORPHA:3098
Diabetes Insipidus, Neurohypophyseal	Wide nose, Long philtrum, Short nose	OMIM:125700
9q subtelomeric deletion syndrome	Protruding tongue, Microcephaly, Anteverted nares, Short nose	DECIPHER:52
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Thick lower lip vermilion, Decreased testicular size, Tauro...	ORPHA:10
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Wide nasal bridge, Micrognathia, Dental crowding, Everted lowe...	OMIM:616367
Simosa Craniofacial Syndrome	Underdeveloped nasal alae, Long philtrum, Wide nasal bridge, Long nose, Narrow mouth, Depressed n...	OMIM:182150
Camptodactyly Syndrome, Guadalajara Type 1	Dental malocclusion, Mandibular prognathia, High palate, Abnormality of dental eruption, Short no...	ORPHA:1327
Zechi-Ceide Syndrome	Underdeveloped nasal alae, Short metatarsal, Cleft upper lip, Wide nose, Wide nasal bridge, Oligo...	OMIM:612916
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormal palate morphology, Long philtrum, Microretrognathia, Short nose	ORPHA:1389
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Retrognathia, Mandibular prognathia, Long philtrum, Wide mouth, Wide nasal bridge, Macrocephaly, ...	OMIM:619595
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft lip, Tooth agenesis, Cleft palate	ORPHA:1074
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Thin upper lip vermilion, Hyperplasia of the maxilla	OMIM:618587
Hypophosphatasia	Hypercalcemia, Craniosynostosis, Recurrent fractures, Abnormality of the dentition	ORPHA:436
Disorganization, Mouse, Homolog Of	Cleft palate, Cleft upper lip, Hip dislocation	OMIM:223200
Nance-Horan Syndrome	Mandibular prognathia, Prominent nose, Short metacarpal, Supernumerary tooth, Prominent nasal bri...	ORPHA:627
Aase-Smith Syndrome	Camptodactyly of finger, Multiple joint contractures, Aplasia/Hypoplasia of the radius, Scoliosis...	ORPHA:916
Chromosome 16P11.2 Deletion Syndrome, 593-Kb	Micrognathia, Macrocephaly	OMIM:611913
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Global brain atrophy, Wide mouth, Diastema, Microcephaly, Hypoplasia of the corpus callosum, Bulb...	OMIM:618470
Neuralgic Amyotrophy	Cleft palate, Narrow mouth	ORPHA:2901
Kdm5C-Related Syndromic X-Linked Intellectual Disability	High palate, Decreased testicular size, Macrocephaly, Hypoplasia of the maxilla, Microcephaly, Cr...	ORPHA:85279
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Prominent nas...	OMIM:601680
Edinburgh Malformation Syndrome	Micrognathia, Short nose, Downturned corners of mouth, Narrow mouth, Anteverted nares, Thin vermi...	ORPHA:1895
Tonne-Kalscheuer Syndrome	Convex nasal ridge, Prominent nose, Wide nasal bridge, Widely spaced teeth, Micrognathia, Velopha...	OMIM:300978
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Micrognathia, Delayed ossification of carpal bones, Abnormal ver...	ORPHA:93346
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Short mandibular rami, Cleft palate, Orofacial cleft	OMIM:141400
Impacted Teeth, Multiple	Multiple impacted teeth, Supernumerary tooth	OMIM:308280
Perlman Syndrome	Retrognathia, Wide nasal bridge, Micrognathia, Broad alveolar ridges, Macrocephaly, Abnormal uppe...	ORPHA:2849
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, High palate, Microdontia, Abnormality of the wrist, Microretrogn...	ORPHA:1307
Autosomal Recessive Amelia	Non-midline cleft lip, Micrognathia, Acromelia of the lower limbs, Amelia involving the upper lim...	ORPHA:1027
3-Hydroxyisobutyric Aciduria	Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus...	ORPHA:939
Distal Monosomy 7Q36	Non-midline cleft lip, Wide mouth, Micrognathia, Short neck, Cleft palate, Bulbous nose	ORPHA:1636
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Fetal Akinesia Deformation Sequence 2	Flexion contracture, High palate, Broad neck, Wide nasal bridge, Micrognathia, Tented upper lip v...	OMIM:618388
Orofaciodigital Syndrome Iii	Short sternum, Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth, Bulbo...	OMIM:258850
Omodysplasia 2	Rhizomelic arm shortening, Anterior wedging of T11, Long philtrum, Short 1st metacarpal, Bilatera...	OMIM:164745
Renpenning Syndrome	Mandibular prognathia, Prominent nose, Short philtrum, Anal atresia, Broad columella, Narrow mout...	ORPHA:3242
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Underdeveloped nasal alae, High palate, Wide nasal bridge, Micrognathia, Microcephaly, Short foot	OMIM:248910
Microcephaly 16, Primary, Autosomal Recessive	Primary microcephaly, Simplified gyral pattern, Micrognathia, Cryptorchidism, Open mouth, Agenesi...	OMIM:616681
Rhizomelic Chondrodysplasia Punctata, Type 1	Flexion contracture, Rhizomelia, Micrognathia, Calcific stippling of infantile cartilaginous skel...	OMIM:215100
Congenital Disorder Of Glycosylation, Type Iu	High palate, Cerebellar hypoplasia, Micrognathia, Short nose, Thin upper lip vermilion, Secondary...	OMIM:615042
Oculoskeletodental Syndrome	Retrognathia, Enamel hypoplasia, Microdontia, Oligodontia, Hypercalcemia, Hypocalcemia, Abnormali...	ORPHA:557003
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type	Cleft palate, Malar flattening, Short foot, Small hand	OMIM:300261
Zimmermann-Laband Syndrome	Wide nose, High palate, Wide mouth, Hypodontia, Micrognathia, Bifid uvula, Gingival fibromatosis,...	ORPHA:3473
Diamond-Blackfan Anemia 6	Retrognathia, Cleft upper lip, Micrognathia, Bifid uvula, Tracheomalacia, Cleft palate, Short thumb	OMIM:612561
Dentinogenesis Imperfecta	Yellow-brown discoloration of the teeth, Abnormal dental root morphology, Finger joint hypermobil...	ORPHA:49042
Auriculocondylar Syndrome 3	Retrognathia, Micrognathia, Bifid uvula, Glossoptosis	OMIM:615706
Bartsocas-Papas Syndrome	Underdeveloped nasal alae, Micrognathia, Short nose, Median cleft lip, Narrow mouth, Microcephaly...	ORPHA:1234
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, High palate, Recurrent fractures, Hyperextensibility of the finger joi...	OMIM:613849
Eye Defects-Arachnodactyly-Cardiopathy Syndrome	Non-midline cleft lip, Craniofacial hyperostosis, Radioulnar synostosis, Limitation of joint mobi...	ORPHA:2725
Branchiogenic-Deafness Syndrome	Submucous cleft hard palate, Branchial cyst, Short distal phalanx of finger, Branchial fistula, T...	OMIM:609166
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia, Craniosynostosis, Osteopenia	OMIM:614732
Fetal Alcohol Syndrome	Non-midline cleft lip, Microdontia, Micrognathia, Vertebral segmentation defect, Short nose, Thin...	ORPHA:1915
Cog7-Cdg	Retrognathia, Subcortical cerebral atrophy, Primary microcephaly, Micrognathia, Progressive micro...	ORPHA:79333
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Flexion contracture, Webbed neck, Fractured radius, Wide nasal bridge, Short ribs, Micrognathia, ...	OMIM:616897
Cohen Syndrome	Short metatarsal, Genu valgum, Convex nasal ridge, Macrodontia of permanent maxillary central inc...	OMIM:216550
Autism Spectrum Disorder Due To Auts2 Deficiency	Retrognathia, Wide nasal bridge, Micrognathia, Prominent nasal tip, Short philtrum, Narrow mouth,...	ORPHA:352490
Satb2-Associated Syndrome Due To A Pathogenic Variant	High palate, Long philtrum, Micrognathia, Bifid uvula, Joint hypermobility, Celiac disease, Thin ...	ORPHA:576283
Acrodysostosis	Short toe, Mandibular prognathia, Depressed nasal ridge, Short metacarpal, Delayed eruption of te...	ORPHA:950
Smith-Magenis Syndrome	Cleft upper lip, Mandibular prognathia, Aplasia/Hypoplasia of the corpus callosum, Delayed erupti...	ORPHA:819
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Tooth malposition, Micrognathia, Microdontia, Hypodontia, Oligodontia, Short nose, Hy...	ORPHA:363417
Treacher Collins Syndrome 3	Hypoplasia of the zygomatic bone, Cleft palate, Micrognathia, Malar flattening	OMIM:248390
Arthrogryposis, Distal, Type 5D	Hyperlordosis, Limited elbow movement, Tongue atrophy, Micrognathia, Elbow flexion contracture, B...	OMIM:615065
Catifa Syndrome	Mild microcephaly, Long philtrum, Delayed eruption of teeth, Cleft lip, Anteverted nares, Cleft p...	OMIM:618761
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Tongue fasciculations, Progressive microcephaly, Narrow mouth	OMIM:620007
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Incisor macrodontia, Underdeveloped nasal alae, High palate, Wide nasal bridge, Thin upper lip ve...	ORPHA:438216
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormality of cranial sutures, Micrognathia, Increased bone mineral density, Short neck, Ovoid v...	ORPHA:163649
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology	ORPHA:3196
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Hypophosphatemia, Rickets, Hypocalcemia, Tooth abscess	ORPHA:89937
Paget Disease Of Bone 2, Early-Onset	Increased susceptibility to fractures, Osteolysis, Osteosclerosis of the ulna, Hypercalcemia, Pre...	OMIM:602080
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2027
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Calvarial osteosclerosis, Cortical thickening of long bone diaphyses, Decrea...	ORPHA:93324
Van Der Woude Syndrome 2	Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate	OMIM:606713
Miller-Dieker Syndrome	Cerebral cortical atrophy, Lissencephaly, Abnormal upper lip morphology, Short nose, Anteverted n...	ORPHA:531
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short tibia, Short 4th metacarpal, Depressed nasal ridge, Short 3rd metacarpal, Limb undergrowth,...	OMIM:118651
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Retrognathia, Thin vermilion border, Mesomelia, Cleft palate	ORPHA:2631
Keipert Syndrome	Macrocephaly, Hypoplasia of the maxilla, Short hallux, Depressed nasal bridge, Short distal phala...	ORPHA:2662
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Microphthalmia With Limb Anomalies	Retrognathia, Cleft upper lip, High palate, Foot oligodactyly, Deep philtrum, Capitate-hamate fus...	OMIM:206920
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Cleft palate, Micrognathia, Thickened nuchal skin fold	ORPHA:1779
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Wide nasal b...	OMIM:618067
Van Der Woude Syndrome	Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Oculodentodigital Dysplasia	Underdeveloped nasal alae, Enamel hypoplasia, Cleft upper lip, High palate, Short middle phalanx ...	OMIM:164200
Momo Syndrome	Thick upper lip vermilion, Dental malocclusion, Short sternum, High palate, Long philtrum, Delaye...	ORPHA:2563
Facial Paresis, Hereditary Congenital, 3	High palate, Micrognathia, Short philtrum, Short nose, Downturned corners of mouth, Depressed nas...	OMIM:614744
Triploidy	Meningocele, Non-midline cleft lip, Wide mouth, Micrognathia, Macroglossia, Intestinal malrotatio...	ORPHA:3376
Van Bogaert-Hozay Syndrome	Micrognathia, Depressed nasal bridge, Distal ulnar hypoplasia, Tooth malposition	OMIM:277150
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Macrocephaly, Notched primary central incisor, Microcephaly	OMIM:620062
Aarskog-Scott Syndrome	Cleft upper lip, Short 5th finger, Short foot, Wide nasal bridge, Hyperextensibility of the finge...	OMIM:305400
Pfeiffer Syndrome	Short middle phalanx of toe, Mandibular prognathia, High palate, Choanal stenosis, Humeroradial s...	OMIM:101600
Auriculocondylar Syndrome	Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia,...	ORPHA:137888
Crisponi Syndrome	Wide nose, High palate, Long philtrum, Micrognathia, Narrow mouth, Anteverted nares	ORPHA:1545
Trichorhinophalangeal Syndrome Type 2	Genu valgum, Joint dislocation, Long philtrum, Deep philtrum, Wide nasal bridge, Aplasia/Hypoplas...	ORPHA:502
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Poirier-Bienvenu Neurodevelopmental Syndrome	Mandibular prognathia, Downturned corners of mouth, Protruding tongue, Smooth philtrum, Open mouth	OMIM:618732
Rhizomelic Chondrodysplasia Punctata, Type 2	Irregular vertebral endplates, High palate, Rhizomelia, Wide nasal bridge, Flexion contracture, M...	OMIM:222765
Treacher-Collins Syndrome	Wide nasal bridge, Micrognathia, Tooth agenesis, Abnormality of bone mineral density, Cleft palat...	ORPHA:861
Spastic Paraplegia 47, Autosomal Recessive	Abnormal periventricular white matter morphology, High palate, Wide nasal bridge, Wide mouth, Sho...	OMIM:614066
Periventricular Nodular Heterotopia 7	Pierre-Robin sequence, Micrognathia, Microretrognathia, Short nose, Narrow mouth, Anteverted nare...	OMIM:617201
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short toe, Cleft upper lip, Mandibular prognathia, Wide nasal bridge, Aganglionic megacolon, Shor...	OMIM:239300
Potocki-Shaffer Syndrome	Underdeveloped nasal alae, Micrognathia, Short philtrum, Downturned corners of mouth, Broad nasal...	ORPHA:52022
Craniosynostosis 2	Cleft soft palate, Supernumerary tooth, Unicoronal synostosis, Bicoronal synostosis, Metopic syno...	OMIM:604757
Verloove Vanhorick-Brubakk Syndrome	Non-midline cleft lip, Micrognathia, Limb undergrowth, Cleft palate, Tarsal synostosis, Abnormal ...	ORPHA:3429
Odontochondrodysplasia	Retrognathia, Dentinogenesis imperfecta, Death in infancy, Delayed eruption of teeth, Short nose,...	ORPHA:166272
17Q11.2 Microduplication Syndrome	Enamel hypoplasia, Macroorchidism, Bifid nose, Thin vermilion border, Microcephaly, Malar flatten...	ORPHA:139474
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia, Convex nasal ridge, Kyphosis, Micrognathia, Vertebral segmentation de...	ORPHA:2617
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Dental crowding, Short nose, Tented upper lip vermilion, Open mouth	OMIM:300143
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, Delayed cranial suture closure, Hyperlordosis, Wide nasal bridge, Delayed eruption ...	ORPHA:2780
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Pontocerebellar Hypoplasia, Type 12	Hypoplasia of the brainstem, Cerebellar hypoplasia, Death in infancy, Micrognathia, Cerebral hypo...	OMIM:618266
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Micrognathia, Short nose, Narrow mouth, Cleft palate	OMIM:614078
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration	OMIM:615883
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Delayed cranial suture closure, Hyperlordosis, Mandibular prognathia, Abnormality of the wrist, N...	ORPHA:2511
Brachycephaly, Trichomegaly, And Developmental Delay	High palate, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, Supernumerary t...	OMIM:617412
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Underdeveloped nasal alae, Non-midline cleft lip, Convex nasal ridge, Wide nasal bridge, Cleft al...	ORPHA:2007
Microcephaly-Albinism-Digital Anomalies Syndrome	Micrognathia, Microcephaly, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phal...	ORPHA:2513
Van Maldergem Syndrome 1	Irregular dentition, Short 4th metacarpal, Wide nasal bridge, Micrognathia, Camptodactyly, Trache...	OMIM:601390
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Underdeveloped nasal alae, Flexion contracture, High palate, Long philtr...	OMIM:616549
X-Linked Intellectual Disability, Porteous Type	Hypoplasia of the maxilla, Bulbous nose, Mandibular prognathia, Short philtrum	ORPHA:93945
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Microcephaly, Long philtrum, Thick vermilion border	ORPHA:833
Achondrogenesis	Abnormal enchondral ossification, Long philtrum, Micrognathia, Short nose, Short neck, Abnormalit...	ORPHA:932
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia, Osteopenia	OMIM:619073
Al-Raqad Syndrome	Thin upper lip vermilion, Narrow mouth, Microcephaly, Short nose	OMIM:616459
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Wide mouth, Micrognathia, Short nose, Thin upper lip vermilion, Microcephaly, Smooth philtrum, Sl...	OMIM:615419
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Periventricular leukomalacia, Microcephaly, Wide nasal bridge	OMIM:618302
Lethal Faciocardiomelic Dysplasia	Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp...	ORPHA:1972
Lessel-Kubisch Syndrome	Narrow nasal bridge, Narrow mouth	OMIM:618681
Ventriculomegaly And Arthrogryposis	Micrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:619501
Glass Syndrome	Conical tooth, Pierre-Robin sequence, High palate, Long philtrum, Prominent nasal bridge, Microgn...	OMIM:612313
Geroderma Osteodysplasticum	Increased susceptibility to fractures, Biconcave vertebral bodies, Mandibular prognathia, Irregul...	OMIM:231070
Cleft Palate-Large Ears-Small Head Syndrome	Micrognathia, Short distal phalanx of finger, Microcephaly, Cleft palate, Gingival overgrowth	ORPHA:2013
Shaheen Syndrome	Carious teeth, Enamel hypoplasia, Microcephaly	OMIM:615328
Trichorhinophalangeal Syndrome Type 1 And 3	Camptodactyly of finger, Hyperlordosis, High palate, Long philtrum, Short metacarpal, Micrognathi...	ORPHA:77258
Stickler Syndrome, Type Ii	Pierre-Robin sequence, Arthropathy, Micrognathia, Bifid uvula, Joint hypermobility, Depressed nas...	OMIM:604841
Non-Distal Trisomy 13Q	High palate, Long philtrum, Micrognathia, Short nose, Everted lower lip vermilion, Microcephaly, ...	ORPHA:1702
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Cerebellar hypoplasia, Micrognathia, Agyria, Lissencephaly, Downturned corners ...	OMIM:616342
Hall-Riggs Syndrome	Prominent nose, Wide mouth, Delayed eruption of teeth, Wide nasal bridge, Downturned corners of m...	ORPHA:2107
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Retrognathia, Knee flexion contracture, Distal arthrogryposis, Flexion contracture, High palate, ...	OMIM:617468
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Knee flexion contracture, Unilateral wrist flexion contracture, Micrognathia, Absent uvula, Arthr...	OMIM:616531
Flat Face-Microstomia-Ear Anomaly Syndrome	Underdeveloped nasal alae, Long philtrum, Wide nasal bridge, Micrognathia, Abnormal oral mucosa m...	ORPHA:1968
Waardenburg Syndrome Type 1	Meningocele, Underdeveloped nasal alae, Cleft upper lip, Mandibular prognathia, Wide nasal bridge...	ORPHA:894
Developmental And Epileptic Encephalopathy 70	Narrow mouth, Cerebral cortical atrophy, Microcephaly	OMIM:618298
Hunter-Mcalpine Craniosynostosis Syndrome	Downturned corners of mouth, Narrow mouth	OMIM:601379
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio...	OMIM:204700
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Hypoplasia of the brainstem, Long philtrum, Primary microcephaly, Cerebellar hypoplasi...	ORPHA:391408
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Short metatarsal, Deep philtrum, Short metacarpal, Microdontia, Radioulnar synostosis...	OMIM:605282
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebral cortical atrophy, Micrognathia, Everted lower lip vermilion, Smooth philtrum, Thin corpu...	OMIM:619720
Toluene Embryopathy	Micrognathia, Biparietal narrowing, Short nose, Microcephaly, Smooth philtrum, Hypoplasia of the ...	ORPHA:1920
Mosaic Trisomy 14	High palate, Wide mouth, Wide nasal bridge, Ectopic anus, Micrognathia, Anteverted nares, Cleft p...	ORPHA:1703
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Prominent nose, Long philtrum, Hypodontia, Microdontia, Oligodontia, Thin upper lip vermilion, Na...	OMIM:618092
Cleidocranial Dysplasia 1	Hypoplastic frontal sinuses, Wide nasal bridge, Short middle phalanx of the 2nd finger, Micrognat...	OMIM:119600
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Genu valgum, Short femoral neck, Disharmonious carpal bone, Hypoplasia of the maxilla, Osteopenia...	OMIM:608154
Orofaciodigital Syndrome Type 10	Retrognathia, Short tibia, Short toe, Mesomelic leg shortening, Long philtrum, Cleft soft palate,...	ORPHA:2756
Arthrogryposis, Distal, Type 3	Camptodactyly of finger, Thoracolumbar scoliosis, Knee flexion contracture, Distal arthrogryposis...	OMIM:114300
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Underdeveloped nasal alae, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Mac...	OMIM:618825
Say Syndrome	Cleft palate, Micrognathia, Short distal phalanx of finger, Microcephaly	OMIM:181180
Cofs Syndrome	Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Wide nasal bridge, Death in infa...	ORPHA:1466
Infantile Myofibromatosis	Gingival fibromatosis, Limitation of joint mobility, Osteolysis, Hypercalcemia, Bone cyst	ORPHA:2591
Richieri-Costa/Guion-Almeida Syndrome	Cleft upper lip, Mandibular prognathia, Spina bifida occulta, Cleft palate, Malar flattening	OMIM:268850
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Intellectual Developmental Disorder, Autosomal Dominant 43	High palate, Wide nasal bridge, Prominent nasal bridge, Thin corpus callosum, Short philtrum, Fro...	OMIM:616977
Metaphyseal Chondrodysplasia, Jansen Type	Knee flexion contracture, Hip contracture, Micrognathia, Hypophosphatemia, Osteopenia, Hypercalce...	OMIM:156400
Distal 17P13.1 Microdeletion Syndrome	Retrognathia, High palate, Microcephaly, Unilateral polymicrogyria, Hypoplasia of the zygomatic b...	ORPHA:319171
Asymmetric Short Stature Syndrome	Dental crowding, Micrognathia, Convex nasal ridge, Hemihypotrophy of lower limb	OMIM:108450
Vitamin D-Dependent Rickets, Type 2A	Enamel hypoplasia, Thin bony cortex, Recurrent fractures, Wide nasal bridge, Delayed eruption of ...	OMIM:277440
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Knee flexion contracture, Mandibular prognathia, Camptodactyly, Thin upper lip vermilion, Ankle f...	ORPHA:435938
Lambert Syndrome	Malar flattening, Branchial anomaly, Wide mouth	ORPHA:1296
Postaxial Acrofacial Dysostosis	Camptodactyly of finger, Non-midline cleft lip, Hypoplasia of the radius, Micrognathia, Hypoplasi...	ORPHA:246
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, High palate, Micrognathia, Pyloric stenosis, Bifid uvula, Short philtrum, Depressed na...	ORPHA:96184
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Microdontia, Supernumerary tooth, Diastema, Joint hypermobility, Agenesis of molar, Ano...	OMIM:619718
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic anemia, Poikilo...	OMIM:206200
Joubert Syndrome 18	Retrognathia, Lobulated tongue, Arrhinencephaly, Camptodactyly, Joint laxity, Kyphoscoliosis, Cle...	OMIM:614815
Crouzon Syndrome	Convex nasal ridge, Narrow palate, Hypoplasia of the maxilla, Multiple suture craniosynostosis, C...	ORPHA:207
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Xq28 (MECP2) duplication	Depressed nasal bridge, Narrow mouth, Microcephaly, Hypoplasia of the corpus callosum, Malar flat...	DECIPHER:45
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Long philtrum, Wide nasal bridge, Micrognathia, Agenesis of corpus callosum, Short nose, Antevert...	OMIM:618577
Aicardi Syndrome	Cleft upper lip, Small hand, Block vertebrae, Malabsorption, Missing ribs, Short philtrum, Promin...	ORPHA:50
Reticuloendotheliosis, X-Linked	Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular osteomyelit...	ORPHA:53
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Pierre-Robin sequence, High palate, Wide nasal bridge, Micrognathia, Bulbous nose, Camptodactyly,...	OMIM:613604
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Thin corpus callosum, Short nose, Thin upper lip vermilion, Tented upper lip v...	OMIM:615716
X-Linked Mandibulofacial Dysostosis	Webbed neck, High palate, Branchial anomaly, Micrognathia, Hypoplasia of the zygomatic bone, Prom...	ORPHA:1131
Chilton-Okur-Chung Neurodevelopmental Syndrome	Micrognathia, Smooth philtrum, Agenesis of incisor, Microcephaly, Cryptorchidism, Short clavicles...	OMIM:619841
Multicentric Osteolysis, Nodulosis, And Arthropathy	Thin bony cortex, Wrist flexion contracture, Delayed closure of the anterior fontanelle, Delayed ...	OMIM:259600
Ruvalcaba Syndrome	Underdeveloped nasal alae, Short metatarsal, Small hand, Short metacarpal, Narrow nose, Cryptorch...	OMIM:180870
Achalasia-Microcephaly Syndrome	Micrognathia, Mandibular prognathia, Prominent nose, Microcephaly	ORPHA:929
Crisponi/Cold-Induced Sweating Syndrome 1	Retrognathia, Wide nose, High palate, Long philtrum, Micrognathia, Depressed nasal bridge, Narrow...	OMIM:272430
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Mandibular prognathia, Anal atresia	ORPHA:93950
Pycnodysostosis	Narrow palate, Delayed eruption of primary teeth, Aplastic clavicle, Prominent nose, Hypodontia, ...	OMIM:265800
Myopathy, Centronuclear, 5	Retrognathia, High palate, Micrognathia, Bifid uvula, Narrow mouth	OMIM:615959
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Jejunal atresia, Wide nasal bridge, Death in infan...	ORPHA:989
Hernández-Aguirre Negrete Syndrome	Bulbous nose, Wide mouth, Deep philtrum	ORPHA:2139
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Pierre-Robin sequence, Depressed nasal bridge, Anteverted nares, Malar flattening, Cleft palate	OMIM:184840
Isotretinoin Syndrome	Cleft palate, Micrognathia, Biparietal narrowing, Depressed nasal bridge	ORPHA:2305
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cleft palate, Cleft upper lip, Micrognathia	OMIM:601076
Frontoocular Syndrome	High palate, Micrognathia, Narrow philtrum, Narrow mouth, Prominent nasal bridge	OMIM:605321
Acrorenal Syndrome	Cleft palate, Micrognathia, Aplasia/Hypoplasia of the radius	ORPHA:971
Bamforth-Lazarus Syndrome	Retrognathia, Cleft palate, Choanal atresia	ORPHA:1226
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Abnormality of the philtrum, High palate, Wide nasal bridge, Delayed eru...	ORPHA:2863
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
49,Xxxxy Syndrome	Wide nose, Mandibular prognathia, Depressed nasal ridge, Delayed eruption of teeth, Decreased tes...	ORPHA:96264
Freeman-Sheldon Syndrome	Underdeveloped nasal alae, Long philtrum, Wide nasal bridge, Depressed nasal ridge, Narrow mouth,...	ORPHA:2053
Tetraamelia Syndrome 2	Bilateral cleft lip, Ankyloglossia, Micrognathia, Absent nipple, Microretrognathia, Cleft palate,...	OMIM:618021
3Q27.3 Microdeletion Syndrome	Mandibular prognathia, Convex nasal ridge, Thick corpus callosum, Short philtrum, Thin upper lip ...	ORPHA:397695
Fibrous Dysplasia Of Bone	Thin bony cortex, Abnormal mandible morphology, Abnormality of the sphenoid sinus, Osteomalacia, ...	ORPHA:249
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Glossoptosis, Death in infancy	OMIM:614876
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Prominent nasal bridge, Scoliosis, Cleft palate	ORPHA:85273
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op...	OMIM:125500
8Q12 Microduplication Syndrome	Everted lower lip vermilion, Narrow mouth, Long philtrum, Wide nasal bridge	ORPHA:228399
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Congenital Arthrogryposis With Anterior Horn Cell Disease	Retrognathia, High palate, Kyphosis, Micrognathia, Short neck, Scoliosis, Neonatal death, Arthrog...	OMIM:611890
Oral Submucous Fibrosis	Narrow mouth, Abnormal oral cavity morphology, Trismus, Cheilitis	ORPHA:357154
Cheilitis Glandularis	Thick lower lip vermilion, Abnormal salivary gland morphology	ORPHA:1221
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Underdeveloped nasal alae, Abnormal oral cavity morphology, Wide nasal bridge, Micrognathia, Shor...	ORPHA:1516
Cranioectodermal Dysplasia 4	Taurodontia, Short distal phalanx of finger, Anteverted nares, Smooth philtrum, Thin vermilion bo...	OMIM:614378
Pierpont Syndrome	Wide nose, Widely spaced teeth, Prominent median palatal raphe, Short nose, Everted lower lip ver...	OMIM:602342
Acrootoocular Syndrome	Dental malocclusion, Short toe, Decreased response to growth hormone stimulation test, Short meta...	ORPHA:2980
Testicular Regression Syndrome	Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo...	ORPHA:983
Trigonocephaly 1	Long philtrum, Wide nasal bridge, Short nose, Meckel diverticulum, Microcephaly, High, narrow palate	OMIM:190440
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Thick upper lip vermilion, Mandibular prognathia, Wide mouth, Thick lower lip vermilion	OMIM:309545
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Recombinant 8 Syndrome	Camptodactyly of finger, Cleft upper lip, Abnormality of the neck, Abnormality of the anus, Patel...	ORPHA:96167
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Thickened cortex...	OMIM:144750
Distal Arthrogryposis Type 1	Narrow mouth	ORPHA:1146
Agnathia-Otocephaly Complex	Wide nose, Mandibular aplasia, Micrognathia, Microglossia, Narrow mouth, Cleft palate, Aglossia, ...	OMIM:202650
Vertebral Hypersegmentation And Orofacial Anomalies	Micrognathia, Submucous cleft hard palate, Joint hypermobility, Anteverted nares, Six lumbar vert...	OMIM:619122
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Hypodontia, Microdontia, Anodontia, Cleft palate, M...	OMIM:225060
Coffin-Lowry Syndrome	Delayed eruption of teeth, Everted lower lip vermilion, Thick nasal alae, Abnormal form of the ve...	ORPHA:192
Harrod Syndrome	Dental malocclusion, Cerebral cortical atrophy, High palate, Narrow mouth, Microcephaly, Long nose	ORPHA:2115
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Short tibia, Lobulated tongue, Bifid tongue, Encephalocele, Natal tooth, Short ribs, Rhizomelia, ...	OMIM:616300
Tetrasomy 12P	Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Anal atresia, Short nose, Ev...	ORPHA:884
Absent Eyebrows And Eyelashes With Mental Retardation	Convex nasal ridge, Microcephaly, Short nose	OMIM:200130
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Short hallux, Cleft soft palate, Oligodontia of primary teeth	OMIM:216300
Cerebellar-Facial-Dental Syndrome	Dental malocclusion, Hypoplasia of the brainstem, Long philtrum, Macrodontia of permanent maxilla...	ORPHA:444072
Achondrogenesis Type 1A	Abnormal enchondral ossification, Long philtrum, Short foot, Recurrent fractures, Micrognathia, S...	ORPHA:93299
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ectopic anus, Short philtrum, Downturned corners of mouth, Aplasia/Hypopla...	ORPHA:94066
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors	ORPHA:397973
Marshall Syndrome	Thick upper lip vermilion, Genu valgum, High palate, Long philtrum, Hypoplastic frontal sinuses, ...	ORPHA:560
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Thick lower lip vermilion, Micrognathia, Short philtrum, Scoliosis, Widely-spaced maxillary centr...	OMIM:608227
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Webbed neck, Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Micrognathia, Joint ...	OMIM:602196
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Cleft palate, Short palm, Malar flattening, Bulbous nose, Short foot, Enamel hypopl...	OMIM:170390
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Multiple pterygia, Arthrogryposis multiplex congenita	OMIM:601809
Spondyloepiphyseal Dysplasia Congenita	Genu valgum, Upper limb undergrowth, Limited elbow movement, Kyphosis, Short femoral neck, Lumbar...	ORPHA:94068
Osteoglosphonic Dysplasia	Abnormal bone ossification, Rhizomelia, Micrognathia, Multiple unerupted teeth, Tooth agenesis, S...	ORPHA:2645
Fetal Minoxidil Syndrome	Micrognathia, Depressed nasal bridge, Cryptorchidism	ORPHA:1918
Baraitser-Winter Syndrome 1	Retrognathia, Cleft upper lip, Long philtrum, Wide mouth, Wide nasal bridge, Short nose, Thin upp...	OMIM:243310
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Taurodontia, Short philtrum, High, narrow palate, Macrodontia	ORPHA:3214
Otospondylomegaepiphyseal Dysplasia	Short metacarpal, Micrognathia, Osteoarthritis, Bifid uvula, Tibial bowing, Abnormal vertebral mo...	ORPHA:1427
Cutis Laxa, Autosomal Recessive, Type Iia	High palate, Long philtrum, Short nose, Narrow mouth, Microcephaly, Anteverted nares, Pachygyria,...	OMIM:219200
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Flexion contracture, High palate, Deep philtrum, Hyperextensibility of the finger joints, Microgn...	OMIM:309520
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Retrognathia, High palate, Wide nasal bridge, Thick lower lip vermilion, Hypodontia, Micrognathia...	OMIM:618342
Leukodystrophy, Hypomyelinating, 10	Cerebral cortical atrophy, Hypoplasia of the brainstem, Long philtrum, Reduced cerebral white mat...	OMIM:616420
Orofaciodigital Syndrome Iv	Short tibia, Lobulated tongue, High palate, Tongue nodules, Micrognathia, Porencephalic cyst, Sho...	OMIM:258860
Hydrolethalus	Retrognathia, Gingival cleft, Micrognathia, Arrhinencephaly, Bifid uvula, Submucous cleft hard pa...	ORPHA:2189
Autosomal Recessive Omodysplasia	Long philtrum, Rhizomelia, Micrognathia, Micromelia, Short nose, Hypoplastic distal humeri, Depre...	ORPHA:93329
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Grant Syndrome	Joint dislocation, Micrognathia, Abnormal cortical bone morphology, Abnormal palate morphology, D...	ORPHA:2097
Achondrogenesis Type 1B	Long philtrum, Micrognathia, Macrocephaly, Short nose, Anteverted nares, Micromelia, Short foot	ORPHA:93298
Robinow Syndrome, Autosomal Recessive 2	Long philtrum, Cleft soft palate, Wide nasal bridge, Micrognathia, Camptodactyly, Short nose, Abs...	OMIM:618529
Congenital Disorder Of Glycosylation, Type Ik	Death in infancy, Micrognathia, Microcephaly, Cerebral atrophy, Thin vermilion border	OMIM:608540
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Reduced bone mineral density	ORPHA:172
Intellectual Developmental Disorder, X-Linked 30	Thick upper lip vermilion, High palate, Short nose, Thin upper lip vermilion, Microcephaly, Antev...	OMIM:300558
Oculofaciocardiodental Syndrome	Genu valgum, Tooth malposition, Long philtrum, Delayed eruption of teeth, Oligodontia, Flexion co...	ORPHA:2712
Pettigrew Syndrome	Mandibular prognathia, Prominent nose, Wide mouth, Cerebral calcification, Abnormal basal ganglia...	OMIM:304340
Brachydactyly-Preaxial Hallux Varus Syndrome	Wide nasal bridge, Short metacarpal, Micrognathia, Abnormal palate morphology, Short metatarsal	ORPHA:1278
Benign Samaritan Congenital Myopathy	Narrow mouth, Wide nasal bridge	ORPHA:324581
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles	OMIM:264270
5Q14.3 Microdeletion Syndrome	Short philtrum, Frontal cortical atrophy, Optic nerve hypoplasia, Short nose, Anteverted nares, H...	ORPHA:228384
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Enamel hypoplasia, Carious teeth, Convex nasal ridge	OMIM:614564
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia	OMIM:613839
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Micrognathia, Short femur, Micromelia, Cleft palate, Hypoplastic scapulae, Glossoptosis	ORPHA:440354
Aicardi Syndrome	Cleft upper lip, Block vertebrae, Spina bifida, Missing ribs, Prominence of the premaxilla, Butte...	OMIM:304050
Hartsfield Syndrome	Non-midline cleft lip, Encephalocele, Depressed nasal bridge, Aplasia/Hypoplasia of the radius, C...	ORPHA:2117
Autosomal Recessive Hypophosphatemic Rickets	Genu varum, Rickets of the lower limbs, Malabsorption, Increased bone mineral density, Delayed er...	ORPHA:289176
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Increased susceptibility to fractures, Radioulnar dislocation, High palate, Abnormality of the el...	ORPHA:93359
Luo-Schoch-Yamamoto Syndrome	Wide nose, Wide mouth, Primary microcephaly, Short philtrum, Depressed nasal bridge, Narrow mouth...	OMIM:619460
Hypophosphatemic Rickets	Craniofacial asymmetry, Osteomalacia, Enthesitis, Hypophosphatemia, Odontodysplasia, Rickets, Pat...	ORPHA:437
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Wide nasal bridge, Cerebellar hypoplasia, Micrognathia, Narrow mouth, Anteverted nares, Dysplasti...	OMIM:618810
Mulibrey Nanism	Wide nose, Enamel hypoplasia, Dental malocclusion, Hypoplastic frontal sinuses, Wide nasal bridge...	OMIM:253250
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Global brain atrophy, Cerebral cortical atrophy, Natal tooth, Volvulus, Micrognathia, Short nose,...	OMIM:617802
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Micrognathia, Abnormal pelvis bone ossification, Micromel...	ORPHA:1426
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Enamel hypoplasia, Mild microcephaly, Secondary microcephaly, Broad nasal tip, Carious teeth, Thi...	ORPHA:363523
Acrocallosal Syndrome	Everted upper lip vermilion, Wide nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, S...	OMIM:200990
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Spina...	ORPHA:1908
Peho Syndrome	Retrognathia, Short nose, Progressive microcephaly, Pachygyria, Hypoplasia of the corpus callosum...	OMIM:260565
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enamel hypoplasia, Thin bony cortex, Recurrent fractures, Delayed eruption of teeth, Tibial bowin...	OMIM:264700
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Wide nasal bridge, Micrognathia, Microcephaly, Cleft palate, Prominent nasal br...	OMIM:618356
Keratoconus Posticus Circumscriptus	Cleft upper lip, Webbed neck, Abnormal vertebral segmentation and fusion, Short neck, Cleft palat...	OMIM:244600
Microcephaly-Micromelia Syndrome	Short tibia, Wide nose, Absent thumb, Convex nasal ridge, Aplasia/Hypoplasia of the corpus callos...	OMIM:251230
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Increased susceptibility to fractures, High palate, Supernumerary tooth, Joint hypermobility, Rec...	OMIM:619752
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Lobulated tongue, Abnormal periventricular white matter morphology, Short philtrum, Short nose, A...	OMIM:613443
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Mandibular prognathia, Wide mouth, Thin upper lip vermilion, Short columella, Microcephaly, Smoot...	OMIM:619989
Van Maldergem Syndrome 2	Irregular dentition, Hip subluxation, Short 4th metacarpal, Wide nasal bridge, Micrognathia, Shor...	OMIM:615546
Distal Trisomy 18Q	High palate, Micrognathia, Abnormality of dental morphology, Short nose, Anteverted nares, Cariou...	ORPHA:1716
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Widely spaced teeth, Wide nasal bridge, Depressed nasal bridge, Limb undergrowt...	OMIM:617102
Hypoglossia With Situs Inversus	High palate, Hypodontia, Micrognathia, Narrow mouth, Microglossia	OMIM:612776
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Hyperlordosis, Cleft upper lip, Wide nasal bridge, Hypodontia, Abnormality of dental morphology, ...	ORPHA:3253
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Coffin-Siris Syndrome 3	Wide nose, High palate, Long philtrum, Wide mouth, Cerebellar hypoplasia, Macroglossia, Depressed...	OMIM:614608
Amelogenesis Imperfecta, Type Iiia	Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion	OMIM:130900
Developmental And Epileptic Encephalopathy 73	Hypoplasia of the corpus callosum, Narrow nasal bridge, Microcephaly, Short nose	OMIM:618379
Potocki-Shaffer Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Short philtrum, Short nose, Downturned corners of m...	OMIM:601224
Aredyld Syndrome	Mandibular prognathia, Abnormal nasal morphology, Advanced eruption of teeth, Craniofacial hypero...	ORPHA:1133
Frontorhiny	Camptodactyly of finger, Bifid tongue, Cranium bifidum occultum, Encephalocele, Hypoplastic front...	ORPHA:391474
Autosomal Dominant Omodysplasia	Rhizomelia, Long philtrum, Short 1st metacarpal, Micrognathia, Short nose, Depressed nasal bridge...	ORPHA:93328
Acrofacial Dysostosis Syndrome Of Rodriguez	High palate, Prominent nose, Wide nasal bridge, Micrognathia, Short philtrum, Narrow mouth	OMIM:201170
Cardiocranial Syndrome, Pfeiffer Type	Sagittal craniosynostosis, Plantar flexion contracture, Wide nasal bridge, Temporomandibular join...	ORPHA:2872
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Convex nasal ridge, Hypoplasia of the maxilla, Abnormal palate morphology, Malar flattening, Abno...	ORPHA:93262
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Fused cervical vertebrae, Limited neck range of motion, Short neck, Scoliosis, L...	OMIM:214300
Neurodevelopmental Disorder With Hearing Loss And Spasticity	Thick upper lip vermilion, High palate, Micrognathia, Periventricular leukomalacia, Depressed nas...	OMIM:619616
X-Linked Intellectual Disability Due To Gria3 Mutations	Short upper lip, Mandibular prognathia, Narrow palate, Macrodontia of permanent maxillary central...	ORPHA:364028
Amyotrophy, Hereditary Neuralgic	Cleft palate, Depressed nasal bridge, Narrow mouth, Long nasal bridge	OMIM:162100
Tetraploidy	Convex nasal ridge, Micrognathia, Biparietal narrowing, Short philtrum, Microcephaly, Cleft palate	ORPHA:3305
Pde4D Haploinsufficiency Syndrome	Short toe, Short metatarsal, Mandibular prognathia, Irregular vertebral endplates, Long philtrum,...	ORPHA:439822
Hypocalcemic Vitamin D-Resistant Rickets	Recurrent fractures, Osteomalacia, Premature loss of primary teeth, Hypophosphatemia, Coarse meta...	ORPHA:93160
Faciocardiorenal Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Hypodontia, Narrow mouth, Smooth philtrum, Cleft pa...	ORPHA:1973
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Thin bony cortex, Vertebral arch anomaly, High palate, Wide anterior fo...	ORPHA:85184
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anemia, Reticulocytopenia, Dysplastic erythropoesis, Decreased transferrin saturation, Anisopoiki...	ORPHA:300298
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Pathologi...	OMIM:179800
Marshall-Smith Syndrome	Retrognathia, Increased susceptibility to fractures, Craniosynostosis, Choanal atresia, Short nos...	ORPHA:561
Marshall Syndrome	Thick upper lip vermilion, Pierre-Robin sequence, Macrodontia of permanent maxillary central inci...	OMIM:154780
Hypomandibular Faciocranial Dysostosis	Choanal stenosis, Aplasia/Hypoplasia of the tongue, Bifid uvula, Short nose, Maxillozygomatic hyp...	ORPHA:1790
Acrofacial Dysostosis, Catania Type	Small hand, Microretrognathia, Short nose, Abnormal palate morphology, Hypoplasia of the zygomati...	ORPHA:1786
Rhombencephalosynapsis	Esophageal atresia, Septo-optic dysplasia, Aganglionic megacolon, Macrocephaly, Anal atresia, Mic...	ORPHA:59315
Postaxial Acrofacial Dysostosis	Conical tooth, Midgut malrotation, Cleft upper lip, Supernumerary vertebrae, Hypoplasia of the ra...	OMIM:263750
Chung-Jansen Syndrome	High palate, Long philtrum, Micrognathia, Short philtrum, Short nose, Anteverted nares, Thin verm...	OMIM:617991
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Micrognathia, Narrow mouth, Microcephaly, Malar flattening, Neonatal death	OMIM:224410
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Conical tooth, Cleft upper lip, Wide nasal bridge, Widely spaced teeth, Selective tooth agenesis,...	OMIM:106260
Temple-Baraitser Syndrome	Wide nose, High palate, Everted upper lip vermilion, Long philtrum, Delayed eruption of teeth, Wi...	ORPHA:420561
Chondrodysplasia, Blomstrand Type	Short ribs, Micrognathia, Depressed nasal bridge, Stillbirth, Micromelia, Malar flattening	OMIM:215045
Congenital Disorder Of Glycosylation, Type Iy	Wide mouth, Widely spaced teeth, Micrognathia, Microcephaly, Hypoplasia of the corpus callosum	OMIM:300934
Hypocalcemic Vitamin D-Dependent Rickets	Enamel hypoplasia, Thin bony cortex, Genu varum, Increased susceptibility to fractures, Delayed e...	ORPHA:289157
Dermatosparaxis Ehlers-Danlos Syndrome	Retrognathia, Joint dislocation, Osteomalacia, Micrognathia, Hip dislocation, Rickets, Depressed ...	ORPHA:1901
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Increased susceptibility to fractures, Unossified vertebral bodies...	OMIM:241500
Trisomy 9P	Non-midline cleft lip, Kyphosis, Abnormal nasal morphology, Downturned corners of mouth, Short ne...	ORPHA:236
Spastic Paraplegia 52, Autosomal Recessive	High palate, Prominent nose, Wide nasal bridge, Wide mouth, Short philtrum, Microcephaly, Bulbous...	OMIM:614067
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Macroglossia, Short nose, Everted lower lip vermilion, Depressed nasal bri...	ORPHA:261144
Stickler Syndrome, Type I	Pierre-Robin sequence, Kyphosis, Arthropathy, Micrognathia, Arthritis, Bifid uvula, Submucous cle...	OMIM:108300
Shox-Related Short Stature	Genu valgum, High palate, Micrognathia, Lower limb undergrowth, Short neck, Ulnar radial head dis...	ORPHA:314795
Antley-Bixler Syndrome	Long philtrum, Short nose, Narrow mouth, Anteverted nares, Hypoplasia of the zygomatic bone, Clef...	ORPHA:83
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Delayed closure of the anterior fontanelle, Wide nasal bridge, Microg...	OMIM:300373
X-Linked Intellectual Disability, Cantagrel Type	Cerebral cortical atrophy, Short philtrum, Short nose, Hypoplasia of the corpus callosum, Tented ...	ORPHA:85277
Intellectual Developmental Disorder, Autosomal Recessive 35	Wide nose, Long philtrum, Micrognathia, Hypoplasia of the ulna, Everted lower lip vermilion, Thin...	OMIM:615162
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Flexion contracture, High palate, Wide nasal bridge, Short nose, Hypoplasia of the maxilla, Scoli...	OMIM:218000
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	High palate, Short 4th metacarpal, Wide nasal bridge, Prominent nose, Microretrognathia, Microcep...	OMIM:606220
Premature Aging Syndrome, Penttinen Type	Delayed cranial suture closure, Convex nasal ridge, Aplasia of the nasal bone, Delayed eruption o...	OMIM:601812
Oculodentodigital Dysplasia	Camptodactyly of finger, Non-midline cleft lip, Micrognathia, Taurodontia, Median cleft lip, Broa...	ORPHA:2710
Bohring-Opitz Syndrome	Retrognathia, Short toe, Cleft upper lip, Joint dislocation, Narrow palate, Mesomelic/rhizomelic ...	OMIM:605039
Mcdonough Syndrome	Underdeveloped nasal alae, Dental malocclusion, Mandibular prognathia, Prominent nose, Micrognath...	ORPHA:2471
Fetal Trimethadione Syndrome	High palate, Micrognathia, Short nose, Depressed nasal bridge, Microcephaly	ORPHA:1913
Stickler Syndrome	Micrognathia, Hip dislocation, Tooth agenesis, Cleft palate, Glossoptosis, Abnormal form of the v...	ORPHA:828
Cerebrocostomandibular Syndrome	Cleft soft palate, Micrognathia, Elbow flexion contracture, Cleft palate, Glossoptosis, 10 pairs ...	OMIM:117650
Nablus Mask-Like Facial Syndrome	Retrognathia, High palate, Long philtrum, Broad neck, Joint contracture of the hand, Wide nasal b...	OMIM:608156
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m...	OMIM:277410
Crouzon Syndrome	Sagittal craniosynostosis, Mandibular prognathia, High palate, Coronal craniosynostosis, Hypoplas...	OMIM:123500
Distal Trisomy 5Q	Long philtrum, Micrognathia, Short nose, Narrow mouth, Microcephaly, Carious teeth, Thin vermilio...	ORPHA:96097
Orofaciodigital Syndrome Viii	Short tibia, High palate, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate	OMIM:300484
Raine Syndrome	Enamel hypoplasia, Choanal stenosis, Mandibular prognathia, High palate, Natal tooth, Wide mouth,...	OMIM:259775
Acrocraniofacial Dysostosis	Wide nose, Webbed neck, Short first metatarsal, Natal tooth, Short 1st metacarpal, Prominent nasa...	OMIM:201050
Jackson-Weiss Syndrome	Mandibular prognathia, Convex nasal ridge, Hypoplasia of the maxilla, Abnormal palate morphology,...	ORPHA:1540
Developmental And Epileptic Encephalopathy 87	Prominent nose, High palate, Wide mouth, Widely spaced teeth, Cerebral atrophy, U-Shaped upper li...	OMIM:618916
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow, Bifid uvula, Tooth agenesis, C...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow, Bifid uvula, Tooth agenesis, C...	ORPHA:352665
Trisomy 17P	Wide nose, High palate, Prominent nose, Wide mouth, Micrognathia, Thick vermilion border, Macrogl...	ORPHA:261290
Mandibuloacral Dysplasia	Delayed cranial suture closure, Contractures of the large joints, High palate, Acroosteolysis of ...	ORPHA:2457
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Camptodactyly of finger, Dental malocclusion, Irregular vertebral endplates, High palate, Webbed ...	OMIM:612350
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Deep philtrum, Thick lower lip vermilion, Short nose, Abnormal palate morphology, Anteverted nare...	ORPHA:2701
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Cleft soft palate, Smooth philtrum, Esophageal atresia	OMIM:614526
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Wide nose, Long philtrum, Micrognathia, Hypoplasia of the ulna, Everted lower lip vermilion, Thin...	ORPHA:357175
Brachydactyly, Type E2	Short metatarsal, Oligodontia, Short metacarpal, Delayed eruption of teeth	OMIM:613382
Cornelia De Lange Syndrome 2	High palate, Limited elbow movement, Small hand, Micrognathia, Thin upper lip vermilion, Downturn...	OMIM:300590
Acrofacial Dysostosis, Catania Type	Carious teeth, Short palm, Microcephaly, Cryptorchidism	OMIM:101805
48,Xxxy Syndrome	Mandibular prognathia, Depressed nasal ridge, Delayed eruption of teeth, Decreased testicular siz...	ORPHA:96263
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Absent nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia involving the nose, Mandib...	ORPHA:990
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Long philtrum, Wide mouth, Wide nasal bridge, Micrognathia, Narrow mouth, Smooth philtrum, Cerebr...	OMIM:618659
Congenital Heart Defects And Skeletal Malformations Syndrome	Narrow maxilla, High palate, Kyphosis, Camptodactyly, Anal atresia, Long nose, Short nose, Intest...	OMIM:617602
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Retrognathia, High palate, Short nose, Depressed nasal bridge, Recurrent upper respiratory tract ...	OMIM:614069
Orofaciodigital Syndrome X	Retrognathia, Hand oligodactyly, Depressed nasal bridge, Cleft palate, Fibular aplasia	OMIM:165590
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Micrognathia, Convex nasal ridge, Patellar hypoplasia, Microcephaly	OMIM:251240
Delta-Beta-Thalassemia	Anemia, Abnormal hemoglobin, Microcytic anemia	ORPHA:231237
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Cerebellofaciodental Syndrome	Dental malocclusion, Macrodontia of permanent maxillary central incisor, Cerebellar hypoplasia, S...	OMIM:616202
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Mandibulofacial Dysostosis-Microcephaly Syndrome	Micrognathia, Short nose, Hypoplasia of the maxilla, Accessory oral frenulum, Cleft palate, Malar...	ORPHA:79113
Orofaciodigital Syndrome Xi	Cleft palate, Bulbous nose, Wide nasal bridge	OMIM:612913
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ...	OMIM:616221
Autosomal Dominant Popliteal Pterygium Syndrome	Fibrous syngnathia, Non-midline cleft lip, Lip pit, Micrognathia, Thin upper lip vermilion, Popli...	ORPHA:1300
Rhizomelic Syndrome	Micrognathia, Rhizomelia, Microcephaly	OMIM:268250
Seckel Syndrome 8	Micrognathia, Convex nasal ridge, Microcephaly	OMIM:615807
Ehlers-Danlos Syndrome, Classic Type, 1	Narrow maxilla, Joint dislocation, Hyperextensibility of the finger joints, Osteoarthritis, Recur...	OMIM:130000
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Mandibular prognathia, Micromelia	ORPHA:2252
Cornelia De Lange Syndrome 5	Retrognathia, High palate, Long philtrum, Small hand, Widely spaced teeth, Decreased testicular s...	OMIM:300882
Pseudodiastrophic Dysplasia	Webbed neck, Rhizomelia, Micrognathia, Hypoplasia of the odontoid process, Camptodactyly, Elbow d...	OMIM:264180
Branchiootic Syndrome	Cleft palate, Micrognathia, Lip pit, Branchial fistula	ORPHA:52429
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Long philtrum, Bifid uvula, Macrocephaly, Everted lower lip vermilion, Downturned corners of mout...	OMIM:618089
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Micrognathia, High palate, Scoliosis, Arthrogryposis multiplex congenita	OMIM:608930
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, High palate, Flexion contracture, Micrognathia, Diastema, Hypoplasia of th...	OMIM:300534
Epilepsy, Progressive Myoclonic, 9	Simplified gyral pattern, Short thumb, Microglossia, Agenesis of corpus callosum	OMIM:616540
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran...	ORPHA:766
Birk-Barel Syndrome	High palate, Bifid uvula, Short philtrum, Microretrognathia, Submucous cleft soft palate, Tented ...	OMIM:612292
Chondroectodermal Dysplasia With Night Blindness	Abnormality of the knee, Micrognathia, Abnormality of dental morphology, Abnormal patella morphol...	ORPHA:319195
Eiken Syndrome	Thin bony cortex, Short toe, Abnormal bone ossification, Short foot, Absence of the sacrum, Abnor...	ORPHA:79106
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	High palate, Long philtrum, Short nose, Narrow mouth, Cerebral atrophy, Dental crowding	OMIM:615539
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Wide nose, High palate, Small hand, Micrognathia, Short philtrum, Joint hypermobility, Scoliosis,...	ORPHA:254531
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Cleft palate, Broad nasal tip, Microcephaly, Cleft lip	OMIM:300263
Distal Trisomy 15Q	Camptodactyly of finger, High palate, Long philtrum, Micrognathia, Anal atresia, Downturned corne...	ORPHA:1707
Opitz-Kaveggia Syndrome	Delayed closure of the anterior fontanelle, Multiple joint contractures, Micrognathia, Camptodact...	OMIM:305450
6Q25 Microdeletion Syndrome	High palate, Long philtrum, Wide nasal bridge, Micrognathia, Microcephaly, Cleft palate, Malar fl...	ORPHA:251056
Anencephaly 2	Cleft maxillary alveolar ridge, Anencephaly, Bifid nose, Median cleft lip, Median cleft palate	OMIM:619452
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Long philtrum, Biparietal narrowing, Microretrognathia, Hypoplasia of the maxilla, Anteverted nar...	ORPHA:228396
Duplication Of The Pituitary Gland	Retrognathia, Abnormality of joint mobility, Encephalocele, Thoracic scoliosis, Wide mouth, Volvu...	ORPHA:314621
Hallermann-Streiff Syndrome	Underdeveloped nasal alae, Convex nasal ridge, Small hand, Natal tooth, Short ribs, Recurrent fra...	ORPHA:2108
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Retrognathia, Prominent nose, Cleft soft palate, Prominent nasal tip, Short philtrum, Broad colum...	ORPHA:293725
Catel-Manzke Syndrome	Micrognathia, Bifid uvula, Camptodactyly, Short femur, Short neck, Cleft palate, Glossoptosis, Cy...	OMIM:616145
Coffin-Siris Syndrome 2	Wide nose, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Thick lower lip ver...	OMIM:614607
Microcephaly-Deafness-Intellectual Disability Syndrome	Everted lower lip vermilion, Micrognathia, Abnormal palate morphology, Microcephaly	ORPHA:2533
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Bifid uvula, Lissencephaly, Secondary microcephaly, Protruding tongue, Alveolar rid...	OMIM:612938
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the knee, Genu valgum, Cleft soft palate, Short femoral neck, Micrognathia, Abnorm...	ORPHA:93316
Desmosterolosis	Retrognathia, Abnormal cortical gyration, Micrognathia, Macrogyria, Bifid uvula, Submucous cleft ...	ORPHA:35107
Craniosynostosis, Herrmann-Opitz Type	Convex nasal ridge, Micrognathia, Short nose, Micromelia, Cleft palate, Malar flattening	ORPHA:2145
Microcephaly-Capillary Malformation Syndrome	Wide nose, Short nose, Hypoplasia of the maxilla, Progressive microcephaly, Cerebral atrophy, Hyp...	OMIM:614261
Spastic Paraplegia 50, Autosomal Recessive	Mandibular prognathia, High palate, Wide mouth, Short philtrum, Wide nasal ridge, Microcephaly, H...	OMIM:612936
Autosomal Recessive Stickler Syndrome	Genu valgum, Irregular vertebral endplates, Micrognathia, Joint hyperflexibility, Platyspondyly, ...	ORPHA:250984
Temtamy Syndrome	Short toe, Convex nasal ridge, Aplasia/Hypoplasia of the corpus callosum, Thick lower lip vermili...	ORPHA:1777
Syngap1-Related Developmental And Epileptic Encephalopathy	High palate, Abnormal tongue physiology, Wide mouth, Narrow mouth, Microcephaly, Thin vermilion b...	ORPHA:544254
Neu-Laxova Syndrome	Retrognathia, Abnormality of the philtrum, Flexion contracture, Depressed nasal ridge, Osteomalac...	ORPHA:2671
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hyperextensibility at wrists, Flexion contracture, High palate, Long philtrum, Hip dislocation, I...	ORPHA:481152
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Primary microcephaly, Short nose	OMIM:245570
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Micrognathia, Short nose, Abnormal cerebral cortex morphology, Meckel diverticulum,...	ORPHA:163961
Parietal Foramina 1	Cleft palate, Cleft upper lip, Encephalocele, Wormian bones	OMIM:168500
Holoprosencephaly 2	Aplasia of the nasal bone, Cerebellar hypoplasia, Proboscis, Absent nasal septal cartilage, Bifid...	OMIM:157170
Genitopalatocardiac Syndrome	Non-midline cleft lip, Kyphosis, Wide nasal bridge, Micrognathia, Downturned corners of mouth, Sc...	ORPHA:2075
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Microdontia, Micrognathia, Peg-shaped maxillary lateral incisors	OMIM:610706
Axenfeld-Rieger Syndrome	Wide nasal bridge, Microdontia, Hypodontia, Everted lower lip vermilion, Hypoplasia of the maxill...	ORPHA:782
Chromosome 22Q11.2 Deletion Syndrome, Distal	Underdeveloped nasal alae, Thin upper lip vermilion, Smooth philtrum, Malar flattening, Cleft palate	OMIM:611867
Cutis Laxa, Autosomal Recessive, Type Ib	Convex nasal ridge, High palate, Micrognathia, Prominence of the premaxilla, Joint hypermobility,...	OMIM:614437
Paternal Uniparental Disomy Of Chromosome 1	Recurrent fractures, Increased blood urea nitrogen, Hypercalcemia, Craniosynostosis, Abnormal den...	ORPHA:251004
Emanuel Syndrome	Broad jaw, High palate, Long philtrum, Ectopic anus, Delayed eruption of teeth, Multiple joint co...	ORPHA:96170
Cardioacrofacial Dysplasia 2	Conical tooth, Mandibular prognathia, Deep philtrum, Hypodontia, Prominent nasal tip, Short philt...	OMIM:619143
Linear Skin Defects With Multiple Congenital Anomalies 2	Hypoplasia of the corpus callosum, Microcephaly, Long philtrum, Short nose	OMIM:300887
Developmental And Epileptic Encephalopathy 75	Cerebral cortical atrophy, Wide nasal bridge, Short philtrum, Frontal cortical atrophy, Short nos...	OMIM:618437
Holzgreve Syndrome	Cleft palate, Cleft upper lip	OMIM:236110
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost...	OMIM:241520
Zechi-Ceide Syndrome	Wide nose, Short metatarsal, Mandibular prognathia, Wide nasal bridge, Oligodontia, Short philtru...	ORPHA:217017
Majeed Syndrome	Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat...	OMIM:609628
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Wide nasal bridge, Microdontia, Hypodontia, Short philtrum, Everted lower ...	OMIM:601499
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Long philtrum, Wide nasal bridge, Wide mouth, Deep philtrum, Depressed nasal bridge, Anteverted n...	ORPHA:1825
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Long philtrum, Micrognathia, Abnormal septum pellucidum morphology, Short nose, Short columella, ...	ORPHA:171839
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Cleft upper lip, Hyposmia, Tooth agenesis, Osteopenia, Anosmia, Cleft palate, Choanal atresia	OMIM:147950
Carpenter Syndrome 1	Lateral displacement of patellae, Micrognathia, Camptodactyly, Spina bifida occulta, Short neck, ...	OMIM:201000
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Wide nasal bridge, Delayed eruption of teeth, Camptodactyly, Spina bifida occulta, Smooth philtru...	OMIM:235510
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Cleft mandible, Exaggerated median tongue furrow, Micrognathia, Everted lower lip vermilion, Subm...	OMIM:608670
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Underdeveloped nasal alae, High palate, Delayed eruption of teeth, Short philtrum, Short nose, Ev...	OMIM:615866
Methylcobalamin Deficiency Type Cble	Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Macrocytic anemia, Increased mean corpuscul...	ORPHA:2169
Sheldon-Hall Syndrome	Webbed neck, High palate, Wide nasal bridge, Ulnar deviation of the wrist, Micrognathia, Vertebra...	ORPHA:1147
Mucopolysaccharidosis, Type Ix	Hyperextensibility at wrists, Lumbar scoliosis, Finger joint hypermobility, Synovitis, Bifid uvul...	OMIM:601492
Lethal Omphalocele-Cleft Palate Syndrome	Retrognathia, Cleft soft palate, Bifid uvula, Cleft palate, Unilateral cleft lip	ORPHA:2736
Marbach-Rustad Progeroid Syndrome	Eruption failure, Convex nasal ridge, Delayed eruption of primary teeth, Hyperintensity of cerebr...	OMIM:619322
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Oligodontia, Hypoplasia of the maxilla, Short distal phalanx of finger,...	ORPHA:2095
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Cerebral cortical atrophy, Widely spaced teeth, Advanced eruption of teeth, Macrocephaly, Short n...	OMIM:617865
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Wide nasal bridge, Micrognathia, Short philtrum, Downturned corners of mouth, Short n...	ORPHA:93267
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol...	ORPHA:86839
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Wide nose, Dental malocclusion, Abnormality of upper lip vermillion, Pierre-Robin sequence, High ...	ORPHA:251028
Oculoauriculovertebral Spectrum With Radial Defects	Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Wide mouth, Ectopic anus, Cleft palate, S...	ORPHA:2549
19P13.3 Microduplication Syndrome	Underdeveloped nasal alae, Prominent nose, Micrognathia, Short philtrum, Narrow mouth, Microcepha...	ORPHA:447980
Chromosome 1P35 Deletion Syndrome	High palate, Wide nasal bridge, Micrognathia, Thin upper lip vermilion, Narrow mouth, Microcephaly	OMIM:617930
46,Xy Sex Reversal 3	Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Gonadal dysgenesis, Exaggerated rugos...	OMIM:612965
Marden-Walker Syndrome	Hypoplasia of the brainstem, High palate, Long philtrum, Cerebellar hypoplasia, Micrognathia, Pyl...	OMIM:248700
Cowden Syndrome 5	Colonic diverticula, High palate, Kyphosis, Micrognathia, Hypoplasia of the maxilla, Narrow mouth...	OMIM:615108
Faciocardiomelic Syndrome	Dental malocclusion, Thin bony cortex, Long philtrum, Wide mouth, Micrognathia, Cuboid-shaped ver...	OMIM:612731
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	High palate, Long philtrum, Perisylvian polymicrogyria, Cerebellar hypoplasia, Hypodontia, Microg...	OMIM:618443
Craniometadiaphyseal Dysplasia	Genu varum, Genu valgum, Mandibular prognathia, High palate, Wide anterior fontanel, Natal tooth,...	OMIM:269300
Coffin-Siris Syndrome 5	Wide nose, Wide mouth, Cerebellar hypoplasia, Thick lower lip vermilion, Short philtrum, Thin upp...	OMIM:616938
Familial Isolated Hypoparathyroidism	Hypocalcemia, Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Van Den Ende-Gupta Syndrome	Convex nasal ridge, Micrognathia, Elbow flexion contracture, Everted lower lip vermilion, Disloca...	OMIM:600920
Developmental And Epileptic Encephalopathy 64	Cerebral cortical atrophy, Cerebellar hypoplasia, Micrognathia, Thin upper lip vermilion, Depress...	OMIM:618004
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the tongue, High palate, Pierre-Robin...	ORPHA:1358
Hydrolethalus Syndrome 2	Cleft palate, Micrognathia, Anencephaly, Agenesis of corpus callosum	OMIM:614120
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Abnormal trabecular bone morphology, Microdontia, Tooth agenesis, Clef...	ORPHA:221016
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Blepharonasofacial Malformation Syndrome	Underdeveloped nasal alae, Non-midline cleft lip, Wide nose, Long philtrum, Wide nasal bridge, To...	ORPHA:1252
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel...	OMIM:618386
Mesomelia-Synostoses Syndrome	Convex nasal ridge, Micrognathia, Abnormality of the wrist, Abnormal oral frenulum morphology, Me...	ORPHA:2496
Fryns-Smeets-Thiry Syndrome	Wide mouth, Thick lower lip vermilion, Micrognathia, Short philtrum, Everted lower lip vermilion,...	ORPHA:2058
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Cleft upper lip, Wide nasal bridge, Bifid uvula, Scoliosis, Anteverted nares, Cleft palate, Bulbo...	OMIM:300958
Bloom Syndrome	Prominent nose, Agenesis of maxillary lateral incisor, Recurrent upper respiratory tract infectio...	OMIM:210900
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormal lower lip morphology, Cerebral cortical atrophy, Micrognathia, Tooth agenesis, Microceph...	ORPHA:1166
Orofaciodigital Syndrome Vi	11 pairs of ribs, Lobulated tongue, Cleft upper lip, High palate, Tongue nodules, Micrognathia, A...	OMIM:277170
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Delayed eruption of teeth, Hypocalcemi...	OMIM:612462
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Brain Malformations With Or Without Urinary Tract Defects	Macrocephaly, Short nose, Thin upper lip vermilion, Narrow mouth, Anteverted nares, Hypoplasia of...	OMIM:613735
Lissencephaly 6 With Microcephaly	Wide mouth, Widely spaced teeth, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Thi...	OMIM:616212
Congenital Myopathy 13	Flexion contracture, High palate, Micrognathia, Downturned corners of mouth, Kyphoscoliosis, Scol...	OMIM:255995
Meier-Gorlin Syndrome 5	Long philtrum, Patellar aplasia, Micrognathia, Submucous cleft hard palate, Elbow dislocation, Hy...	OMIM:613805
Pseudoleprechaunism Syndrome, Patterson Type	Genu valgum, Prominent nose, Abnormal ethmoid bone morphology, Abnormal mandible condylar process...	ORPHA:2976
Kimura Disease	Abnormal salivary gland morphology	ORPHA:482
19P13.13 Microdeletion Syndrome	Hypoplasia of the frontal lobes, High palate, Macrocephaly, Macroglossia, Short nose, Optic nerve...	ORPHA:357001
Acrodysostosis 1 With Or Without Hormone Resistance	Dental malocclusion, Mandibular prognathia, Short metacarpal, Delayed eruption of teeth, Hypodont...	OMIM:101800
Rhizomelic Limb Shortening With Dysmorphic Features	Short 5th finger, Long philtrum, Rhizomelia, Wide nasal bridge, Micrognathia, Macrocephaly, Smoot...	OMIM:618821
Severe Intellectual Disability And Progressive Spastic Paraplegia	Abnormal periventricular white matter morphology, Cerebral cortical atrophy, High palate, Everted...	ORPHA:280763
Diastrophic Dysplasia	Camptodactyly of finger, Joint dislocation, Kyphosis, Micrognathia, Increased bone mineral densit...	ORPHA:628
Myhre Syndrome	Mandibular prognathia, Gingival cleft, Abnormal lip morphology, Bifid uvula, Submucous cleft hard...	ORPHA:2588
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Macrocephaly, Short nose, Microcephaly, Bulbous nose	OMIM:611936
Intellectual Developmental Disorder, Autosomal Dominant 23	Hyperlordosis, Long philtrum, Kyphosis, Wide nasal bridge, Micrognathia, Thin upper lip vermilion...	OMIM:615761
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Bifid tongue, Micrognathia, Intestinal malrotation, Short neck, Bilateral cleft lip and palate	ORPHA:2001
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, Everted lower lip vermilion, Thin vermilion border, Narro...	OMIM:234100
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Facial Clefting, Oblique, 1	Cleft palate, Cleft upper lip	OMIM:600251
Zaki Syndrome	Wide nose, High palate, Wide mouth, Wide nasal bridge, Micrognathia, Short philtrum, Hypoplasia o...	OMIM:619648
Lissencephaly, X-Linked, 2	High palate, Long philtrum, Wide anterior fontanel, Wide nasal bridge, Micrognathia, Thin upper l...	OMIM:300215
Martsolf Syndrome 1	Short toe, Talipes valgus, High palate, Long philtrum, Short metacarpal, Finger joint hypermobili...	OMIM:212720
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Shprintzen-Goldberg Craniosynostosis Syndrome	Dental malocclusion, Genu valgum, High palate, Narrow palate, Wide anterior fontanel, Joint contr...	OMIM:182212
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar hemisphere hypoplasia, Reduced cerebral white matter volume, Primary microcephaly, Sim...	OMIM:615095
15Q24 Microdeletion Syndrome	Long philtrum, Thick lower lip vermilion, Intestinal atresia, Anal atresia, Abnormal palate morph...	ORPHA:94065
Osteogenesis Imperfecta, Type Xviii	Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Wide nasal bridge, Micrognathi...	OMIM:617952
Baker-Gordon Syndrome	Thin upper lip vermilion, Prominent nasal tip, Smooth philtrum, Short nose	OMIM:618218
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Conical tooth, Underdeveloped nasal alae, Rhinitis, Everted upper lip vermilion, Microdontia, Hyp...	OMIM:305100
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Micrognathia, Decreased calvarial ossification, Cleft palate, Craniosynostosis, Art...	OMIM:618265
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	High palate, Wide nasal bridge, Widely spaced teeth, Macrocephaly, Tented upper lip vermilion, De...	OMIM:300260
Thomas Syndrome	Cleft palate, Cleft upper lip	ORPHA:3316
Gand Syndrome	Wide nasal bridge, Wide mouth, Short philtrum, Thin upper lip vermilion, Broad nasal tip	OMIM:615074
Osteogenesis Imperfecta, Type Xxii	Abnormal circulating calcium concentration, Dentinogenesis imperfecta, Thin bony cortex, Recurren...	OMIM:619795
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	High palate, Death in infancy, Necrotizing enterocolitis, Shortening of all distal phalanges of t...	OMIM:616809
Beaulieu-Boycott-Innes Syndrome	Dental malocclusion, Micrognathia, Velopharyngeal insufficiency, Microcephaly, Long nose, Carious...	OMIM:613680
Orofaciodigital Syndrome I	Bifid tongue, Wide nasal bridge, Median cleft lip, Alveolar ridge overgrowth, Ovarian cyst, Cleft...	OMIM:311200
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs due t...	OMIM:259420
Skin Creases, Congenital Symmetric Circumferential, 1	High palate, Long philtrum, Micrognathia, Depressed nasal bridge, Narrow mouth, Microcephaly, Hyp...	OMIM:156610
Hypoglossia-Hypodactylia	Retrognathia, Micrognathia, Microglossia, Narrow mouth, Adactyly, Aglossia	OMIM:103300
Brachytelephalangic Chondrodysplasia Punctata	Stippling of the epiphyses of the distal phalanges of the hand, Vertebral hypoplasia, Epiphyseal ...	ORPHA:79345
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis	OMIM:603529
Andersen-Tawil Syndrome	High palate, Small hand, Wide nasal bridge, Micrognathia, Oligodontia, Joint laxity, Hypoplasia o...	ORPHA:37553
Methylmalonate Semialdehyde Dehydrogenase Deficiency	High palate, Long philtrum, Thin corpus callosum, Short philtrum, Short nose, Depressed nasal bri...	OMIM:614105
Craniodigital-Intellectual Disability Syndrome	Micrognathia, Narrow nasal bridge, Short nose	ORPHA:1514
Arthrogryposis And Ectodermal Dysplasia	Cleft upper lip, Joint contracture of the hand, Oligodontia, Camptodactyly, Kyphoscoliosis, Abnor...	OMIM:601701
Temple Syndrome	Wide nose, Flexion contracture, High palate, Small hand, Micrognathia, Bifid uvula, Short philtru...	OMIM:616222
Kyphomelic Dysplasia	Cleft upper lip, Short metacarpal, Micrognathia, Flat acetabular roof, Pterygium, Micromelia, Lim...	OMIM:211350
Meckel Syndrome, Type 8	Cleft upper lip, Depressed nasal ridge, Short nose, Microcephaly, Cleft palate	OMIM:613885
German Syndrome	Camptodactyly of finger, High palate, Wide nasal bridge, Micrognathia, Limitation of joint mobili...	ORPHA:2077
Cohen Syndrome	Genu valgum, Aplasia/Hypoplasia of the tongue, Kyphosis, High, narrow palate, Prominent nasal bri...	ORPHA:193
Verheij Syndrome	Long philtrum, Wide nasal bridge, Short nose, Thin upper lip vermilion, Microcephaly, Cerebral at...	OMIM:615583
Ovarian Dysgenesis 6	Hypergonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:618078
Kenny-Caffey Syndrome, Type 1	Calvarial osteosclerosis, Decreased skull ossification, Carious teeth, Hypocalcemia, Hypomagnesemia	OMIM:244460
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Laron Syndrome	Short toe, Aplasia/Hypoplasia involving the nose, Abnormality of the elbow, Depressed nasal ridge...	ORPHA:633
Basal Cell Nevus Syndrome 1	Hamartomatous stomach polyps, Cleft upper lip, Mandibular prognathia, Odontogenic keratocysts of ...	OMIM:109400
Myopathic Ehlers-Danlos Syndrome	Knee flexion contracture, Congenital finger flexion contractures, Hyperlordosis, Foot joint contr...	ORPHA:536516
Orofaciodigital Syndrome Type 1	Lip pit, Wide nasal bridge, Micrognathia, Median cleft lip, Odontogenic neoplasm, Cleft palate, R...	ORPHA:2750
Trisomy 12P	Wide nasal bridge, Micrognathia, Anal atresia, Short nose, Everted lower lip vermilion, Downturne...	ORPHA:1699
Cerebrooculofacioskeletal Syndrome 1	Knee flexion contracture, Flexion contracture, Prominent nose, Long philtrum, Joint contracture o...	OMIM:214150
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Small hand, Micrognathia, Relative macrocephaly, Downturned corners of mouth, Short foot	ORPHA:254525
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Irregular dentition, Depressed nasal bridge, Narrow mouth, Intestinal lymphangiectasia	OMIM:616006
Chromosome 18Q Deletion Syndrome	Cleft upper lip, Mandibular prognathia, Prominent nose, Choanal stenosis, Bifid uvula, Short phil...	OMIM:601808
Developmental And Epileptic Encephalopathy 89	Long philtrum, Wide nasal bridge, Macrocephaly, Microretrognathia, Thin upper lip vermilion, Depr...	OMIM:619124
Adducted Thumbs Syndrome	High palate, Velopharyngeal insufficiency, Cerebral dysmyelination, Microcephaly, Cleft palate, H...	OMIM:201550
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short foot, Wide mouth, Death in infancy, Rhizomelia, Micrognathia, Depressed nasal ridge, Cerebe...	ORPHA:163966
Rothmund-Thomson Syndrome	Reduced bone mineral density, Increased susceptibility to fractures, Selective tooth agenesis, De...	ORPHA:2909
Saethre-Chotzen Syndrome	Delayed cranial suture closure, Hyperlordosis, Convex nasal ridge, Narrow palate, Prominent crus ...	ORPHA:794
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thick upper lip vermilion, Small cerebral cortex, Wide nasal bridge, Short lingual frenulum, Micr...	OMIM:617360
Chromosome 9P Deletion Syndrome	Retrognathia, Narrow palate, High palate, Long philtrum, Deep philtrum, Wide nasal bridge, Microg...	OMIM:158170
Langer Mesomelic Dysplasia	Aplasia/Hypoplasia of the fibula, High palate, Short femoral neck, Mesomelic/rhizomelic limb shor...	ORPHA:2632
Sponastrime Dysplasia	Hip subluxation, Aplasia of the nasal bone, Microdontia, Ivory epiphyses of the phalanges of the ...	ORPHA:93357
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Underdeveloped nasal alae, Micrognathia, Short distal phalanx of finger, Microcephaly, Cleft pala...	ORPHA:2516
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Nizon-Isidor Syndrome	Prominent nasal bridge, Short philtrum, Bulbous nose, Everted lower lip vermilion, Thin upper lip...	OMIM:618872
Cowden Syndrome 6	Colonic diverticula, High palate, Kyphosis, Micrognathia, Hypoplasia of the maxilla, Narrow mouth...	OMIM:615109
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Micrognathia, Tooth agenesis, Microcephaly	ORPHA:1964
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, High palate, Short foot, Small hand, Delayed eruption of teeth, Microdonti...	OMIM:268400
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Distal Xq28 Microduplication Syndrome	High palate, Short lingual frenulum, Thick lower lip vermilion, Hypoplasia of the maxilla, Epista...	ORPHA:293939
Mullegama-Klein-Martinez Syndrome	Prominent nose, Long philtrum, Wide nasal bridge, Micrognathia, Short philtrum, Thin upper lip ve...	OMIM:301022
Amelogenesis Imperfecta, Type If	Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta	OMIM:616270
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Taurodontia, Cerebral calcification, Abnormality of the dentition, Abnormal dental enamel morphology	ORPHA:3220
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Bifid tongue, Ectopic anus, Wide nasal bridge, Micrognathia, Elbow dislo...	ORPHA:1507
Insulin-Like Growth Factor I, Resistance To	Retrognathia, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Thin upper lip vermili...	OMIM:270450
Bor Syndrome	Retrognathia, Cleft palate, Branchial cyst	ORPHA:107
Branchioskeletogenital Syndrome	Unilateral cleft palate, Bifid uvula, Short neck, Amelia involving the lower limbs, Abnormality o...	ORPHA:1299
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo...	OMIM:611590
Acitretin/Etretinate Embryopathy	High palate, Micrognathia, Aplasia/hypoplasia involving bones of the upper limbs, Antecubital pte...	ORPHA:40366
Cat-Eye Syndrome (Type I)	Micrognathia, Anal atresia	DECIPHER:42
Bartsocas-Papas Syndrome 2	Wide anterior fontanel, Small hand, Micrognathia, Axillary pterygium, Antecubital pterygium, Popl...	OMIM:619339
Stevenson-Carey Syndrome	Underdeveloped nasal alae, Pierre-Robin sequence, Cerebellar hypoplasia, Prominent nasal tip, Dow...	OMIM:611961
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cleft palate, Cleft upper lip	OMIM:120433
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Narrow palate, Convex nasal ridge, Ectopi...	ORPHA:87
Aminopterin Syndrome Sine Aminopterin	High palate, Micrognathia, Oligodontia, Macrocephaly, Megalencephaly, Microcephaly, Cryptorchidis...	OMIM:600325
Isolated Cleft Lip	Supernumerary maxillary incisor, Non-midline cleft lip, Bilateral cleft lip, Hypodontia, Velophar...	ORPHA:199302
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Increased bone mineral densit...	ORPHA:90652
Cleft Lip-Retinopathy Syndrome	Non-midline cleft lip	ORPHA:1995
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Micrognathia, Recurrent sinusitis, Short neck, Beaking of vertebral bodies, Cl...	OMIM:213980
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Retrognathia, Mandibular prognathia, Prominent nasolabial fold, Macrocephaly, Short nose, Downtur...	ORPHA:391372
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Micrognathia, Acetabular dysplasia, Femoral bowing, Hypoplasia of the maxilla, Apla...	OMIM:616462
Orofaciodigital Syndrome Xv	Lobulated tongue, Wide nasal bridge, Midline notch of upper alveolar ridge, Anteverted nares, Age...	OMIM:617127
Orofacial Cleft 14	Median cleft lip	OMIM:615892
Fryns Syndrome	Non-midline cleft lip, High palate, Long philtrum, Ectopic anus, Wide mouth, Wide nasal bridge, A...	ORPHA:2059
Arthrogryposis, Distal, Type 2A	Underdeveloped nasal alae, Mandibular prognathia, High palate, Long philtrum, Wide nasal bridge, ...	OMIM:193700
Angelman Syndrome	Mandibular prognathia, Wide mouth, Widely spaced teeth, Macroglossia, Hypoplasia of the maxilla, ...	OMIM:105830
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Depressed nasal bridge, Anosmia, Microcephaly, Short nasal septum	OMIM:302950
Variant Abeta2M Amyloidosis	Intestinal perforation, Abnormality of the tongue, Abnormal salivary gland morphology	ORPHA:314652
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Cleft upper lip, Depressed nasal ridge, Joint hypermobility, Cleft palat...	OMIM:607597
Intellectual Developmental Disorder, Autosomal Recessive 13	Cleft upper lip, Wide nasal bridge, Short philtrum, Downturned corners of mouth, Short neck, Smoo...	OMIM:613192
Trichorhinophalangeal Syndrome, Type I	Dental malocclusion, Ivory epiphyses of the distal phalanges of the hand, Hyperlordosis, Narrow p...	OMIM:190350
Ruvalcaba Syndrome	Convex nasal ridge, Short nose, Narrow mouth, Thin vermilion border, Microcephaly, Dental crowding	ORPHA:3121
Congenital Disorder Of Glycosylation, Type Iig	Wide nasal bridge, Micrognathia, Butterfly vertebrae, Camptodactyly, Short neck, Smooth philtrum,...	OMIM:611209
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Underdeveloped nasal alae, High palate, Branchial anomaly, Wide nasal bridge, Vertebral segmentat...	ORPHA:453499
Coffin-Siris Syndrome 11	High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Small hand, Bifid uvula, Downturn...	OMIM:618779
Intellectual Developmental Disorder, Autosomal Dominant 39	Wide nasal bridge, Wide mouth, Thin corpus callosum, Wide nasal base, Cerebral atrophy	OMIM:616521
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Wrist swelling, Camptodactyly of finger, Wide nasal bridge, Micrognathia, Abnormality of the wris...	ORPHA:2774
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Enamel hypoplasia, Pulp calcification, Taurodontia	OMIM:211900
Cerebrofacioarticular Syndrome	Irregular dentition, Bilateral choanal atresia/stenosis, Wide nasal bridge, Micrognathia, Agenesi...	ORPHA:314679
Orofaciodigital Syndrome Type 4	Camptodactyly of finger, Micrognathia, Bifid uvula, Abnormal oral frenulum morphology, Median cle...	ORPHA:2753
Palatopharyngeal Incompetence	Cleft palate, Velopharyngeal insufficiency	OMIM:167500
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Thin upper lip vermilion, Anosmia, Hypoplasia of the zyg...	ORPHA:1295
Peters-Plus Syndrome	Short lingual frenulum, Micrognathia, Thin vermilion border, Conical incisor, Cleft palate, Short...	OMIM:261540
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Non-midline cleft lip, Limitation of joint mobility, Arthrogryposis multiplex congenita, Cleft pa...	ORPHA:1484
Shprintzen-Goldberg Syndrome	Retrognathia, Camptodactyly of finger, Genu valgum, Craniosynostosis, Micrognathia, Missing ribs,...	ORPHA:2462
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Cleft upper lip, Flexion contracture, Vertebral hypoplasia, Short ribs, Micrognathia, Aplasia of ...	OMIM:308050
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Hemiatrophy, Abnorma...	ORPHA:1350
Congenital Disorder Of Glycosylation, Type Iia	Retrognathia, Wide mouth, Prominent nasal bridge, Diastema, Everted lower lip vermilion, Protrudi...	OMIM:212066
Baraitser-Winter Syndrome 2	Retrognathia, Long philtrum, Wide mouth, Lissencephaly, Thin upper lip vermilion, Secondary micro...	OMIM:614583
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Retrognathia, Wide mouth, Prominent nasal bridge, Micrognathia, Microcephaly, Dysplastic corpus c...	OMIM:604273
46,Xx Ovotesticular Disorder Of Sex Development	Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo...	ORPHA:2138
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Osteomalacia	OMIM:600740
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Wide mouth, Thick lower lip vermilion, Submucous cleft hard palate, Depres...	OMIM:619103
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Cleft upper lip, Anterior encephalocele, Foot oligodactyly, Bilateral cleft lip, Short femur, Bil...	OMIM:601357
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ...	OMIM:616959
Weill-Marchesani Syndrome 1	Thin bony cortex, Narrow palate, Lumbar hyperlordosis, Abnormality of dental morphology, Hypoplas...	OMIM:277600
Terminal Osseous Dysplasia	Mesomelic leg shortening, Short toe, Depressed nasal tip, Accessory oral frenulum, Cleft palate, ...	OMIM:300244
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Dental malocclusion, Abnormal periventricular white matter morphology, High palate, Deep philtrum...	ORPHA:329178
Mandibulofacial Dysostosis, Guion-Almeida Type	Deep philtrum, Esophageal atresia, Micrognathia, Short nose, Progressive microcephaly, Microcepha...	OMIM:610536
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Retrognathia, High palate, Wide mouth, Anteverted nares, Prominent nasal bridge	OMIM:615722
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Micrognathia, Webbed neck, Cleft soft palate	OMIM:606851
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed cranial suture closure, Abnormality of the neck, Flexion contracture, High palate, Acroos...	OMIM:608612
Polyvalvular Heart Disease Syndrome	High palate, Prominent nose, Micrognathia, Short philtrum, Joint hyperflexibility, Dental crowding	ORPHA:228410
Chromosome 6Pter-P24 Deletion Syndrome	Cleft upper lip, High palate, Abnormality of dental morphology, Anal atresia, Joint laxity, Tente...	OMIM:612582
Treacher Collins Syndrome 2	Retrognathia, Choanal stenosis, Micrognathia, Microretrognathia, Hypoplasia of the zygomatic bone...	OMIM:613717
Craniofacial-Deafness-Hand Syndrome	Narrow naris, Short nose, Hypoplasia of the maxilla, Depressed nasal bridge, Malar flattening	OMIM:122880
Amelogenesis Imperfecta, Type Ie	Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp...	OMIM:301200
Sweeney-Cox Syndrome	Underdeveloped nasal alae, High palate, Wide nasal bridge, Cerebellar hypoplasia, Micrognathia, V...	OMIM:617746
Braddock-Carey Syndrome 1	Enamel hypoplasia, Pierre-Robin sequence, Small hand, Wide nasal bridge, Everted lower lip vermil...	OMIM:619980
Meier-Gorlin Syndrome 4	Patellar aplasia, Thick lower lip vermilion, Micrognathia, Hypoplasia of the maxilla, Narrow mout...	OMIM:613804
Kagami-Ogata Syndrome	Retrognathia, Flexion contracture, Long philtrum, Micrognathia, Hypoplasia of the maxilla, Kyphos...	OMIM:608149
Chromosome 16Q22 Deletion Syndrome	High palate, Wide anterior fontanel, Wide nasal bridge, Micrognathia, Depressed nasal bridge, Sho...	OMIM:614541
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Abnormality of the philtrum, Recurrent fractures, Kyphosis, Micrognathia...	ORPHA:3409
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Langer Mesomelic Dysplasia	Short tibia, Short femoral neck, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, ...	OMIM:249700
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ...	ORPHA:1028
Hypophosphatemic Rickets, X-Linked Dominant	Genu valgum, Enamel hypomineralization, Osteomalacia, Femoral bowing, Rickets, Hypophosphatemic r...	OMIM:307800
Chromosome 16P13.3 Deletion Syndrome, Proximal	Convex nasal ridge, High palate, Prominent nose, Death in infancy, Micrognathia, Microcephaly, Lo...	OMIM:610543
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Retrognathia, High palate, Micrognathia, Narrow mouth, Long nose, Cleft palate	OMIM:301091
Frank-Ter Haar Syndrome	Mandibular prognathia, Wide mouth, Delayed eruption of teeth, Wide nasal bridge, Short philtrum, ...	ORPHA:137834
Microphthalmia, Syndromic 12	Retrognathia, Wide nasal bridge, Micrognathia, Broad nasal tip, Cryptorchidism	OMIM:615524
Ritscher-Schinzel Syndrome 3	Wide anterior fontanel, Short 1st metacarpal, Short first metatarsal, Death in infancy, Micrognat...	OMIM:619135
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Enamel hypoplasia, Macroorchidism, High palate, Ankyloglossia, Macrocephaly, Polymicrogyria, Thin...	OMIM:618874
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Vertebral clefting, Long philtrum, Short femoral neck, Wide nasal bridge, Velopharyngeal insuffic...	OMIM:614701
Infantile Spasms-Broad Thumbs Syndrome	Aplasia/Hypoplasia of the corpus callosum, Convex nasal ridge, Cerebral cortical atrophy, Microgn...	ORPHA:3173
Lambert Syndrome	Malar flattening, Wide mouth	OMIM:245550
Schimke Immuno-Osseous Dysplasia	Ischemic stroke, Hypodontia, Microdontia, Abnormal intestine morphology, Abnormality of primary m...	ORPHA:1830
Tarp Syndrome	Short sternum, High palate, Wide nasal bridge, Tongue nodules, Hypoplasia of the radius, Microgna...	OMIM:311900
Diprosopus	Non-midline cleft lip, Anencephaly, Cleft palate, Abnormality of the nose	ORPHA:1681
Acrofrontofacionasal Dysostosis 1	Cleft upper lip, Mandibular prognathia, Wide mouth, Short metacarpal, Wide nasal bridge, Oligodon...	OMIM:201180
Craniolenticulosutural Dysplasia	Delayed closure of the anterior fontanelle, High palate, Long philtrum, Wide mouth, Delayed erupt...	OMIM:607812
Rapadilino Syndrome	Absent thumb, High palate, Aplasia/Hypoplasia of the radius, Cleft palate, Slender nose, High, na...	OMIM:266280
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Wide nasal bridge, Micrognathia, Short philtrum, Microcephaly, Thin vermilion border, Bulbous nose	ORPHA:261304
Roberts Syndrome	Knee flexion contracture, Wrist flexion contracture, Cleft upper lip, Aplasia/Hypoplasia of the t...	ORPHA:3103
Osteopetrosis, Autosomal Recessive 1	Osteomyelitis, Calvarial osteosclerosis, Increased bone mineral density, Pathologic fracture, Car...	OMIM:259700
8Q21.11 Microdeletion Syndrome	Underdeveloped nasal alae, Wide nose, Aplasia/Hypoplasia of the corpus callosum, High palate, Mic...	ORPHA:284160
Greenberg Dysplasia	Absent or minimally ossified vertebral bodies, Micrognathia, Tetraphocomelia, Epiphyseal stipplin...	OMIM:215140
Dysosteosclerosis	Short sternum, Increased susceptibility to fractures, Delayed closure of the anterior fontanelle,...	OMIM:224300
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Wide mouth, Thick lower lip vermilion, Depressed nasal bridge, Anteverted nares, Cerebral atrophy...	OMIM:617268
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Brooke-Spiegler Syndrome	Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo...	ORPHA:79493
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Malabsorption, Micrognathia, Macroglossia, Short nose, Depressed nasal bridge, Protruding tongue,...	OMIM:242860
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Wide nose, Webbed neck, Esophageal atresia, Fused cervical vertebrae, Submucous cle...	OMIM:619227
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Hypoplasia of the brainstem, Micrognathia, Oligodontia, Downturned corners of mouth, Narrow mouth...	OMIM:616817
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Underdeveloped nasal alae, Prominent nose, Wide nasal bridge, Widely spaced teeth,...	ORPHA:90024
Schwartz-Jampel Syndrome	Wrist flexion contracture, Micrognathia, Increased bone mineral density, Elbow dislocation, Evert...	ORPHA:800
Ellis-Van Creveld Syndrome	Cleft upper lip, Genu valgum, Natal tooth, Delayed eruption of teeth, Capitate-hamate fusion, Hyp...	OMIM:225500
Crane-Heise Syndrome	Aplastic clavicle, Micrognathia, Joint stiffness, Depressed nasal bridge, Decreased skull ossific...	ORPHA:1512
Down Syndrome	Narrow palate, Depressed nasal ridge, Thick lower lip vermilion, Microdontia, Aganglionic megacol...	ORPHA:870
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Hypocal...	OMIM:600081
Distal 22Q11.2 Microduplication Syndrome	Camptodactyly of finger, Wide nose, Mandibular prognathia, High palate, Long philtrum, Webbed nec...	ORPHA:261337
Even-Plus Syndrome	High palate, Depressed nasal ridge, Hypodontia, Anal atresia, Short nose, Bifid nasal tip, Dyspla...	OMIM:616854
Fetal Hydantoin Syndrome	Depressed nasal ridge, Wide mouth, Short nose, Everted lower lip vermilion, Microcephaly, Cleft p...	ORPHA:1912
Intellectual Developmental Disorder, X-Linked 103	Anteverted nares, Wide mouth, Polymicrogyria	OMIM:300982
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Hypoplasia of the corpus callosum, Open mouth, Macrodontia of permanent maxillary central incisor...	OMIM:620114
Wieacker-Wolff Syndrome	Retrognathia, Hyperlordosis, High palate, Long philtrum, Kyphosis, Congenital foot contractures, ...	OMIM:314580
Intellectual Developmental Disorder, Autosomal Dominant 61	Wide nasal bridge, Wide mouth, Thin upper lip vermilion, Smooth philtrum, Prominent nasal bridge	OMIM:618009
Distal Trisomy 6P	Micrognathia, Narrow mouth, Prominent nasal bridge, Thin vermilion border	ORPHA:1745
Loeys-Dietz Syndrome 5	Retrognathia, Congenital finger flexion contractures, Overhanging nasal tip, High palate, Cleft s...	OMIM:615582
Coffin-Siris Syndrome 6	Retrognathia, Deep philtrum, Micrognathia, Short philtrum, Kyphoscoliosis, Depressed nasal bridge...	OMIM:617808
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Meier-Gorlin Syndrome 1	Flexion contracture, Microdontia, Micrognathia, Osteochondritis dissecans, Camptodactyly, Elbow d...	OMIM:224690
Odontochondrodysplasia 1	Dentinogenesis imperfecta, Long philtrum, Short metacarpal, Death in infancy, Delayed eruption of...	OMIM:184260
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
C Syndrome	High palate, Wide mouth, Short metacarpal, Wide nasal bridge, Micrognathia, Micromelia, Short nos...	OMIM:211750
Dentin Dysplasia, Type Ii	Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth	OMIM:125420
Naegeli-Franceschetti-Jadassohn Syndrome	Enamel hypoplasia, Yellow-brown discoloration of the teeth, Abnormality of dental morphology, Sup...	ORPHA:69087
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Elevated creatine kinase after exercise	ORPHA:284426
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thick lower lip vermilion, Short nose, Thin upper lip vermilion, Anteverted nares, Tented upper l...	OMIM:619854
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Non-midline cleft lip, Wide nasal bridge, Delayed eruption of teeth, Widely spaced...	ORPHA:1071
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Kyphosis, Hypoplasia of the radius, Micrognathia, ...	ORPHA:958
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Short ribs, Micrognathia, Micromelia, Miscarriage, Narrow mouth, Limb undergro...	ORPHA:1865
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	High palate, Patellar dislocation, Patellar hypoplasia, Patellar aplasia, Micrognathia, Short fem...	OMIM:147891
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	High palate, Rhizomelia, Micrognathia, Joint contracture, Hip dislocation, Short humerus, Hypopla...	OMIM:602471
Schisis Association	Anencephaly, Anal atresia, Tracheoesophageal fistula, Microcephaly, Micromelia, Cleft palate, Uni...	ORPHA:63862
Cole-Carpenter Syndrome 1	Orbital craniosynostosis, Dentinogenesis imperfecta, Recurrent fractures, Coronal craniosynostosi...	OMIM:112240
Ear-Patella-Short Stature Syndrome	Retrognathia, Camptodactyly of finger, Mandibular aplasia, Aplastic clavicle, Patellar aplasia, C...	ORPHA:2554
Holoprosencephaly	Spinal dysraphism, Median cleft lip, Short neck, Tooth agenesis, Depressed nasal tip, Intestinal ...	ORPHA:2162
Autosomal Dominant Robinow Syndrome	Camptodactyly of finger, Bifid tongue, Wide nasal bridge, Micrognathia, Hip dislocation, Elbow di...	ORPHA:3107
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Oligodontia, Short phi...	OMIM:617061
Pfeiffer Syndrome	Mandibular prognathia, High palate, Wide nasal bridge, Short philtrum, Hypoplasia of the zygomati...	ORPHA:710
Codas Syndrome	Delayed eruption of teeth, Abnormality of dental morphology, Short nose, Midline defect of the no...	ORPHA:1458
Orofaciodigital Syndrome Ix	Short tibia, High palate, Camptodactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Acce...	OMIM:258865
Otopalatodigital Syndrome Type 1	Hypoplastic frontal sinuses, Wide nasal bridge, Oligodontia, Anodontia, Short hallux, Depressed n...	ORPHA:90650
Pseudohypoparathyroidism Type 1B	Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Delayed eruption of teeth, Increased b...	ORPHA:94089
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal carpal morphology, Anteriorly placed a...	OMIM:216100
Chromosome 19Q13.11 Deletion Syndrome, Distal	Retrognathia, Underdeveloped nasal alae, Wide nasal bridge, Micrognathia, Hypodontia, Short philt...	OMIM:613026
Microform Holoprosencephaly	Short philtrum, Choanal atresia, Short nose, Solitary median maxillary central incisor, Tented up...	ORPHA:280200
Nabais Sa-De Vries Syndrome, Type 1	Primary microcephaly, Simplified gyral pattern, Short nose, Optic nerve hypoplasia, Depressed nas...	OMIM:618828
Nemaline Myopathy 2	Cleft palate, Narrow mouth, High palate, Long philtrum	OMIM:256030
Smith-Kingsmore Syndrome	Hemimegalencephaly, Perisylvian polymicrogyria, Long philtrum, Wide mouth, Macrocephaly, Short no...	OMIM:616638
Frontofacionasal Dysplasia	Non-midline cleft lip, Depressed nasal ridge, Short nose, Dimple on nasal tip, Depressed nasal br...	ORPHA:1791
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Long philtrum, Micrognathia, Bifid uvula, Patchy osteosclerosis, Thin upper li...	OMIM:241410
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Chime Syndrome	Aplastic clavicle, Short foot, Depressed nasal ridge, Microdontia, Abnormality of dental morpholo...	ORPHA:3474
Glutamine Deficiency, Congenital	Wide nasal bridge, Short nose, Depressed nasal bridge, Anteverted nares, Hypoplasia of the corpus...	OMIM:610015
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	High palate, Wide mouth, Micrognathia, Joint laxity, Scoliosis, Widely-spaced maxillary central i...	ORPHA:502434
Oculoskeletodental Syndrome	Oligodontia, Elbow flexion contracture, Macroglossia, Hypercalcemia, Hypocalcemia	OMIM:618440
Arthrogryposis, Distal, Type 2B3	Narrow mouth	OMIM:618436
Potocki-Lupski Syndrome	Dental malocclusion, Mandibular prognathia, High palate, Wide mouth, Micrognathia, Prominent nasa...	OMIM:610883
Thymic Neuroendocrine Tumor	Hypercalcemia, Osteopenia	ORPHA:97289
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Eruption failure, High palate, Long philtrum, Micrognathia, Hypercalcemia, Dental crowding, Abnor...	ORPHA:476126
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab...	OMIM:600785
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Lissencephaly, Optic nerve hypoplasia, Narrow mouth, Microcephaly, Dysplastic corpus callosum, Ag...	OMIM:614833
Rhizomelic Chondrodysplasia Punctata	Limb undergrowth, Rhizomelia, Microcephaly, Abnormality of the dentition	ORPHA:177
Chromosome 1Q41-Q42 Deletion Syndrome	Cleft upper lip, High palate, Deep philtrum, Widely spaced teeth, Vertebral segmentation defect, ...	OMIM:612530
Native American Myopathy	High palate, Progressive congenital scoliosis, Micrognathia, Bifid uvula, Camptodactyly, Joint la...	ORPHA:168572
Beemer-Ertbruggen Syndrome	Wide nasal bridge, Deep philtrum, Micrognathia, Increased bone mineral density, Bulbous nose	ORPHA:1237
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Gingivitis, Wide nasal bridge, Macrocephaly, Narrow mouth, Abnormality of primary teeth	ORPHA:75496
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Narrow palate, Anteriorly placed anus, Depressed nasal bridge, Narrow mouth, Tooth agenesis, Ante...	ORPHA:1555
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Cleft upper lip, Hypoplasia of the frontal bone, Cranium bifidum occul...	OMIM:229400
Gaucher Disease, Perinatal Lethal	Retrognathia, Everted upper lip vermilion, Micrognathia, Short nose, Everted lower lip vermilion,...	OMIM:608013
Robinow Syndrome, Autosomal Recessive 1	Delayed cranial suture closure, Bifid tongue, Wide nasal bridge, Micrognathia, Dislocated radial ...	OMIM:268310
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft lip, Ectopic anus, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius,...	ORPHA:2476
Rhizomelic Dysplasia, Patterson-Lowry Type	Wide nose, Mandibular prognathia, Depressed nasal ridge, Short nose	ORPHA:2831
Distal Monosomy 17Q	Abnormality of the philtrum, Narrow mouth, Microcephaly, Aplasia/Hypoplasia of the uvula	ORPHA:1597
Gillessen-Kaesbach-Nishimura Syndrome	Retrognathia, Underdeveloped nasal alae, Convex nasal ridge, Flexion contracture, Wide anterior f...	OMIM:263210
Schwartz-Jampel Syndrome, Type 1	Wrist flexion contracture, Micrognathia, Short neck, Flexion contracture of toe, Lumbar hyperlord...	OMIM:255800
Arthrogryposis, Distal, Type 1A	Retrognathia, Narrow mouth, Trismus, Long nasal bridge	OMIM:108120
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Camptodactyly of finger, Hyperlordosis, Narrow palate, Micrognathia, Synostosis of carpal bones, ...	ORPHA:1323
Achondrogenesis, Type Ii	Long philtrum, Short ribs, Absent vertebral body mineralization, Microretrognathia, Stillbirth, C...	OMIM:200610
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the corpus callosum, Long philtrum, Micrognathia, Short nose, Thin upper li...	ORPHA:1988
Pai Syndrome	Encephalocele, Bifid uvula, Abnormal oral frenulum morphology, Nasal polyposis, Median cleft lip,...	ORPHA:1993
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Ectopic anus, Microretrognathia, Microcephaly, Short distal phalanx of finger, Cleft palate, Abno...	ORPHA:2994
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Wide nose, Primary microcephaly, Micrognathia, Short nose, Progressive microcephaly...	OMIM:608779
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the tongue, High palate, Aplasia/Hypoplasi...	ORPHA:570
17P11.2 Microduplication Syndrome	Wide mouth, Micrognathia, Abnormality of dental morphology, Microcephaly, Hypoplasia of the corpu...	ORPHA:1713
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Micrognathia, Elbow flexion contracture, Dislocated radial head, Phoco...	OMIM:122470
Wagr Syndrome	Everted lower lip vermilion, Micrognathia, Microcephaly, Cryptorchidism	ORPHA:893
Split hand/foot malformation 1 (SHFM1)	Cleft palate, Median cleft lip	DECIPHER:46
Bent Bone Dysplasia Syndrome 1	Natal tooth, Coronal craniosynostosis, Micrognathia, Decreased calvarial ossification, Short clav...	OMIM:614592
Blomstrand Lethal Chondrodysplasia	Aplastic clavicle, Long philtrum, Natal tooth, Short ribs, Rhizomelia, Micrognathia, Increased bo...	ORPHA:50945
Acrofacial Dysostosis 1, Nager Type	Absent thumb, Micrognathia, Hip dislocation, Subglottic stenosis, Limited elbow extension, Cleft ...	OMIM:154400
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Aplasia/Hypoplasia of the cerebellum, Microdontia, Macrocephaly, Short nose, Depres...	ORPHA:1812
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Increased bone mineral density, Bifid uvula, Cleft palate, Osteop...	ORPHA:2658
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Contractures of the large joints, Everted lower lip vermilion, Kyphoscolio...	ORPHA:324410
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Flexion contracture, Pierre-Robin sequence, Short 5th metacarpal, Micrognathia, Enlarged joints, ...	OMIM:215150
Schneckenbecken Dysplasia	Short ribs, Macrocephaly, Short nose, Limb undergrowth, Stillbirth, Cleft palate, Malar flattenin...	OMIM:269250
Contractures-Developmental Delay-Pierre Robin Syndrome	Thoracolumbar scoliosis, Wrist flexion contracture, Underdeveloped nasal alae, Micrognathia, Radi...	ORPHA:436003
Idiopathic Hypercalciuria	Abnormal circulating calcium concentration, Osteoporosis, Osteopenia	ORPHA:2197
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Sagittal craniosynostosis, Natal tooth, Death in infancy, Micrognathia, Depressed nasal bridge, D...	OMIM:616901
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Underdeveloped nasal alae, Hydranencephaly, Short distal phalanx of finger, Microcephaly, Cleft p...	OMIM:601355
46,Xy Sex Reversal 11	Urogenital sinus anomaly, Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, G...	OMIM:273250
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Long philtrum, Deep philtrum, Wide nasal bridge, Inferior cerebellar vermis hypoplasia, Microretr...	OMIM:618571
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate	OMIM:119300
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Mandibular prognathia, Patellar dislocation, Kyphosis, Hypodontia, Elbow disloc...	ORPHA:2916
Lethal Congenital Contracture Syndrome Type 1	Webbed neck, Abnormality of the elbow, Recurrent fractures, Micrognathia, Abnormal cortical bone ...	ORPHA:1486
Distal Monosomy 19P13.3	Short philtrum, Hypoplasia of the maxilla, Joint hyperflexibility, Cleft palate, Umbilical hernia	ORPHA:96129
Ehlers-Danlos Syndrome, Classic-Like, 2	Shoulder dislocation, Cervical C2/C3 vertebral fusion, High palate, Webbed neck, Generalized join...	OMIM:618000
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Hypoplasia of the brainstem, High palate, Long philtrum, Wide nasal bridge, Cerebellar hypoplasia...	OMIM:300749
Malan Overgrowth Syndrome	Hypoplasia of the brainstem, High palate, Macrocephaly, Depressed nasal bridge, Narrow mouth, Hyp...	ORPHA:420179
Cerebrooculonasal Syndrome	Narrow palate, High palate, Long philtrum, Proboscis, Macrocephaly, Dandy-Walker malformation, Sh...	OMIM:605627
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Joint dislocation, Rhizomelia, Micrognathia, Laryn...	ORPHA:1190
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of the radius, Me...	ORPHA:2741
Dentici-Novelli Neurodevelopmental Syndrome	Wide mouth, Widely spaced teeth, Simplified gyral pattern, Thin corpus callosum, Thin upper lip v...	OMIM:619877
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Long philtrum, High, narrow palate, Micrognathia, Joint hypermobility, Tent...	ORPHA:369837
Trisomy 1Q	Wide nose, Cerebellar hypoplasia, Macrocephaly, Anal atresia, Microretrognathia, Depressed nasal ...	ORPHA:261344
Ramos-Arroyo Syndrome	Choanal stenosis, Long philtrum, Primary microcephaly, Aganglionic megacolon, Depressed nasal bri...	ORPHA:1051
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Micrognathia, Duodenal stenosis, Short nose	ORPHA:2547
Atelosteogenesis, Type I	11 pairs of ribs, Short metatarsal, Vertebral hypoplasia, Rhizomelia, Short metacarpal, Multinucl...	OMIM:108720
Treacher Collins Syndrome 1	Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Micrognathia, Narrow mouth, Cry...	OMIM:154500
Branchiootic Syndrome 1	Retrognathia, Branchial fistula	OMIM:602588
Congenital Disorder Of Glycosylation, Type Il	Global brain atrophy, Long philtrum, Wide mouth, Short nose, Depressed nasal bridge, Microcephaly	OMIM:608776
Peho Syndrome	Cerebral cortical atrophy, Porencephalic cyst, Biparietal narrowing, Abnormal upper lip morpholog...	ORPHA:2836
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Thin bony cortex, Mandibular prognathia, Webbed neck, Recurrent fractures, Hyperextensibility of ...	OMIM:309583
Multiple Pterygium Syndrome, Lethal Type	Increased susceptibility to fractures, Vertebral fusion, Joint dislocation, Flexion contracture, ...	OMIM:253290
Trisomy 13	Long philtrum, Kyphosis, Median cleft lip, Scoliosis, Cleft palate, Malar flattening, High, narro...	ORPHA:3378
Cowden Syndrome 1	Colonic diverticula, High palate, Kyphosis, Micrognathia, Hypoplasia of the maxilla, Narrow mouth...	OMIM:158350
Kinsship Syndrome	Micrognathia, Hip dislocation, Dislocated radial head, Short neck, Smooth philtrum, Gingival over...	OMIM:619297
Otopalatodigital Syndrome, Type I	Wide nasal bridge, Selective tooth agenesis, Short nose, Absent frontal sinuses, Narrow mouth, Mu...	OMIM:311300
Teebi-Shaltout Syndrome	Underdeveloped nasal alae, Wide mouth, High, narrow palate, Wide nasal bridge, Oligodontia, Narro...	OMIM:272950
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	High palate, Wide mouth, Cerebellar hypoplasia, Short nose, Thin upper lip vermilion, Downturned ...	OMIM:618590
14Q24.1Q24.3 Microdeletion Syndrome	Long philtrum, Wide nasal bridge, Short nose, Intestinal malrotation, Thin upper lip vermilion, S...	ORPHA:401935
Omphalocele-Cleft Palate Syndrome, Lethal	Cleft palate, Bifid uvula, Death in infancy	OMIM:258320
Johanson-Blizzard Syndrome	Underdeveloped nasal alae, Abnormal nostril morphology, Delayed eruption of teeth, Malabsorption,...	ORPHA:2315
Anophthalmia Plus Syndrome	Non-midline cleft lip, Spina bifida, Vertebral segmentation defect, Abnormal nasal morphology, Ch...	ORPHA:1104
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Temple-Baraitser Syndrome	Wide nose, Long philtrum, Wide mouth, Downturned corners of mouth, Short columella, Depressed nas...	OMIM:611816
Desmosterolosis	Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Gingival fibromatosis, Relative macrocep...	OMIM:602398
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Long philtrum, Wide mouth, Wide nasal bridge, Micrognathia, Oligodontia, Smooth philtrum, Antever...	OMIM:602562
46,Xy Sex Reversal 7	Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi...	OMIM:233420
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Dental malocclusion, Wide mouth, Wide nasal bridge, Thick lower lip vermilion, Micrognathia, Ever...	ORPHA:85321
Larsen Syndrome	Hip dislocation, Tracheomalacia, Elbow dislocation, Spina bifida occulta, Hypoplastic cervical ve...	OMIM:150250
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Underdeveloped nasal alae, Dental malocclusion, Micrognathia, Diastema, Broad columella, Malar fl...	ORPHA:436245
X-Linked Intellectual Disability, Najm Type	Cerebral cortical atrophy, Long philtrum, Wide nasal bridge, Cerebellar hypoplasia, Micrognathia,...	ORPHA:163937
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis	OMIM:301083
Micro Syndrome	Cerebral cortical atrophy, High palate, Aplasia/Hypoplasia of the corpus callosum, Wide nasal bri...	ORPHA:2510
Diamond-Blackfan Anemia 1	Retrognathia, Delayed cranial suture closure, Cleft upper lip, Absent thumb, High palate, Webbed ...	OMIM:105650
Popliteal Pterygium Syndrome	Fibrous syngnathia, Cleft upper lip, Intercrural pterygium, Lower lip pit, Bifid uvula, Spina bif...	OMIM:119500
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	High palate, Pierre-Robin sequence, Long philtrum, Short nose, Everted lower lip vermilion, Thin ...	OMIM:617877
Hartsfield Syndrome	Wide nose, Cleft upper lip, Hypoplasia of the frontal bone, Median cleft lip, Cleft palate, Crani...	OMIM:615465
Blepharophimosis With Facial And Genital Anomalies And Mental Retardation	Retrognathia, Narrow palate, High palate, Long philtrum, Narrow mouth, Microcephaly, Smooth philt...	OMIM:604314
Parenti-Mignot Neurodevelopmental Syndrome	Prominent nasal bridge, Micrognathia, Prominent nasal tip, Short philtrum, Craniosynostosis	OMIM:619873
Seckel Syndrome 1	11 pairs of ribs, Enamel hypoplasia, Dental malocclusion, Convex nasal ridge, High palate, Promin...	OMIM:210600
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, ...	ORPHA:2839
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Convex nasal ridge, Micrognathia, Narrow mouth, Dental crowding	OMIM:615381
Cebalid Syndrome	High palate, Depressed nasal ridge, Short nose, Depressed nasal bridge, Anteverted nares, Polymic...	OMIM:618774
Sanjad-Sakati Syndrome	Hyperphosphatemia, Long philtrum, Micrognathia, Patchy osteosclerosis, Thin vermilion border, Hyp...	ORPHA:2323
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Carious teeth, Anal atresia, Bilateral cleft lip and palate	ORPHA:1997
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Cerebral cortical atrophy, Short nose, Partial agenesis of the corpus callosum, Mic...	OMIM:234050
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Mesomelia, Short foot, Rhizomelia, Short metacarpal	OMIM:611263
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Delayed eruption...	ORPHA:2484
Distal 22Q11.2 Microdeletion Syndrome	Camptodactyly of finger, Hyperlordosis, Underdeveloped nasal alae, Prominent nasal bridge, Ankylo...	ORPHA:261330
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Microcephaly, Short nose	OMIM:616910
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Micrognathia, Short nose, Progressive microcephaly, Secondary microcephaly, Microcepha...	OMIM:615851
Chondrodysplasia Punctata, Autosomal Dominant	Knee flexion contracture, Hip contracture, Epiphyseal stippling, Hypoplasia of the nasal bone, Sc...	OMIM:118650
Blepharocheilodontic Syndrome 1	Conical tooth, Cleft upper lip, Neural tube defect, Hypodontia, Anal atresia, Choanal atresia	OMIM:119580
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the thymus, Decreased response to growth hormone s...	ORPHA:1896
Opitz Gbbb Syndrome	Cleft upper lip, High palate, Wide anterior fontanel, Wide nasal bridge, Anal atresia, Solitary m...	OMIM:300000
Partial Deletion Of The Short Arm Of Chromosome 7	Retrognathia, Aplasia of the distal phalanx of the 5th finger, Broad neck, Small hand, Short midd...	ORPHA:261911
Fetal Akinesia Deformation Sequence	Camptodactyly of finger, Multiple joint contractures, Micrognathia, Pterygium, Depressed nasal br...	ORPHA:994
4Q21 Microdeletion Syndrome	Short foot, Small hand, Cerebellar hypoplasia, Short philtrum, Downturned corners of mouth, Depre...	ORPHA:238750
Rothmund-Thomson Syndrome Type 1	Genu varum, Patellar hypoplasia, Patellar aplasia, Short metacarpal, Delayed eruption of teeth, A...	ORPHA:221008
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Increased susceptibility to fractures, Bowing of limbs due to multiple...	OMIM:166220
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Downturned corners of mouth, High, narrow palate, Bulbous nose, Wide mouth	OMIM:273390
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia, Ectopic ossification	ORPHA:79445
Developmental And Epileptic Encephalopathy 80	High palate, Long philtrum, Wide mouth, Death in infancy, Wide nasal bridge, Micrognathia, Abnorm...	OMIM:618580
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, High palate, Wide mouth, Widely spaced teeth, Wide nasal bridge, Bulbous n...	ORPHA:369891
Lateral Meningocele Syndrome	Meningocele, Hyperlordosis, High palate, Kyphosis, Micrognathia, Craniofacial hyperostosis, Promi...	ORPHA:2789
Ohdo Syndrome, Sbbys Variant	Microdontia, Micrognathia, Thin upper lip vermilion, Depressed nasal bridge, Microcephaly, Crypto...	OMIM:603736
Platyspondylic Dysplasia, Torrance Type	Short foot, Depressed nasal bridge, Malar flattening, Short distal phalanx of finger, Micromelia,...	ORPHA:85166
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate	OMIM:137215
Meier-Gorlin Syndrome 3	Genu varum, Patellar hypoplasia, Patellar aplasia, Short ribs, Micrognathia, Microretrognathia, H...	OMIM:613803
Intellectual Developmental Disorder, Autosomal Dominant 1	Retrognathia, Hypoplasia of the frontal lobes, Mandibular prognathia, Prominent nose, Depressed n...	OMIM:156200
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Retrognathia, Wide mouth, Broad nasal tip, Bifid nasal tip, Median pseudocleft lip, Short foot, U...	OMIM:619758
Icf Syndrome	Malabsorption, Micrognathia, Macrocephaly, Macroglossia, Depressed nasal bridge, Protruding tongue	ORPHA:2268
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Webbed neck, Kyphosis, Micrognathia, Cleft palate, Cystic hygroma	OMIM:153400
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, Cerebral cortical atrophy, High palate, Reduced cerebral white matter ...	OMIM:615803
Galloway-Mowat Syndrome 6	High palate, Wide mouth, Microdontia, Downturned corners of mouth, Microcephaly, Anteverted nares	OMIM:618347
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Retrognathia, Short toe, High palate, Wide nasal bridge, Micrognathia, Microcephaly, Cryptorchidi...	ORPHA:98791
Pallister-Hall Syndrome	Cleft upper lip, Short 4th metacarpal, Natal tooth, Hip dislocation, Anal atresia, Distal shorten...	OMIM:146510
Hartnup Disorder	Glossitis	OMIM:234500
Silver-Russell Syndrome 2	Micrognathia, Downturned corners of mouth, Relative macrocephaly	OMIM:618905
Mayer-Rokitansky-Kuster-Hauser Syndrome	Aplasia of the vagina, Hypoplasia of the uterus	OMIM:277000
Warburg Micro Syndrome 4	Cerebral cortical atrophy, Perisylvian polymicrogyria, Long philtrum, Secondary microcephaly, Nar...	OMIM:615663
Monosomy 18P	Webbed neck, Wide nasal bridge, Hypodontia, Micrognathia, Short philtrum, Downturned corners of m...	ORPHA:1598
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Rhizomelia, Absent nasal bridge, Relative macrocephaly, Mesomelia	ORPHA:171866
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Knee flexion contracture, 11 pairs of ribs, Enlarged naris, Hip contracture, Long philtrum, Wide ...	OMIM:616266
Gomez-Lopez-Hernandez Syndrome	High palate, Short nose, Thin vermilion border, Smooth philtrum, Anteverted nares, Malar flatteni...	OMIM:601853
Uremic Pruritus	Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia	ORPHA:94059
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Rhizomelia, Absent nasal bridge, Short finger, Relative macrocephaly, Meso...	OMIM:612813
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Abnormal cortical gyration, Microretrognathia, Narrow mouth, Hypoplasia of the corpus callosum, M...	OMIM:177980
Kyphomelic Dysplasia	Micrognathia, Missing ribs, Micromelia	ORPHA:1801
Craniosynostosis And Dental Anomalies	Wide nose, Dental malocclusion, Sagittal craniosynostosis, Mandibular prognathia, Narrow palate, ...	OMIM:614188
Cerebrocostomandibular Syndrome	Meningocele, Myelomeningocele, Webbed neck, Kyphosis, Death in infancy, Spina bifida, Micrognathi...	ORPHA:1393
Weill-Marchesani Syndrome 2	Thin bony cortex, High palate, Narrow palate, Short metacarpal, Flexion contracture of toe, Lumba...	OMIM:608328
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Wide nasal bridge, Aganglionic megacolon, Macrocephaly, Short philtrum, Mi...	OMIM:613603
Beare-Stevenson Cutis Gyrata Syndrome	Choanal stenosis, Narrow palate, High palate, Natal tooth, Prominent nasal bridge, Bifid uvula, A...	OMIM:123790
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Aplasia/Hypoplasia...	OMIM:192445
Barber-Say Syndrome	Underdeveloped nasal alae, Dental malocclusion, Wide nose, Mandibular prognathia, High palate, Wi...	OMIM:209885
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Short toe, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Gingival hyperkera...	OMIM:225410
Global Developmental Delay With Speech And Behavioral Abnormalities	Micrognathia, Macrocephaly, Anal atresia, Supernumerary nipple, Thin upper lip vermilion, Microce...	OMIM:619243
Shwachman-Diamond Syndrome	Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Hypoamylasemia, Imp...	ORPHA:811
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Retrognathia, High palate, Wide nasal bridge, Short nose, Limb undergrowth, Microcephaly	OMIM:618005
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, High palate, Tooth agenesis, Cleft palate, Abnormality of ...	ORPHA:1135
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Primary microcephaly, Diffuse cerebral atrophy, Short nose, Secondary microcephaly, Hypoplasia of...	ORPHA:289266
Desbuquois Dysplasia 1	Long philtrum, Microretrognathia, Short nose, Depressed nasal bridge, Narrow mouth, Concave nasal...	OMIM:251450
Robinow Syndrome, Autosomal Dominant 3	Bifid tongue, Wide nasal bridge, Micrognathia, Camptodactyly, Short neck, Cleft palate, Gingival ...	OMIM:616894
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue, Micromelia	ORPHA:2928
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Long philtrum, Short nose, Thin upper lip vermilion, Depressed nasal bridge, Narrow mouth, Cerebr...	OMIM:601353
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Non-midline cleft lip, High palate, Everted lower lip vermilion, Dimple ...	ORPHA:1784
Dpm1-Cdg	Hypoplasia of the frontal lobes, Micrognathia, Depressed nasal bridge, Limb undergrowth, Secondar...	ORPHA:79322
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Wide mouth, Widely spaced teeth, Cessation of head growth, Secondary micro...	ORPHA:98795
Osteoglophonic Dysplasia	Short metatarsal, Eruption failure, Mandibular prognathia, High palate, Long philtrum, Short foot...	OMIM:166250
Ohdo Syndrome, X-Linked	High palate, Long philtrum, Wide nasal bridge, Widely spaced teeth, Prominent nose, Micrognathia,...	OMIM:300895
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of the knee, Crowded maxillary incisors, Narrow palate, Micrognathia, Abnormality of ...	ORPHA:2063
Holoprosencephaly 3	Single naris, Proboscis, Bifid uvula, Solitary median maxillary central incisor, Short columella,...	OMIM:142945
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Increased bone mineral density, Hypocalcemic seizures, Hy...	ORPHA:36913
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Thick upper lip vermilion, Duodenal polyposis, Mandibular prognathia, High palate, Long philtrum,...	ORPHA:261584
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cleft upper lip, Finger joint hypermobility, Hyposmia, Anosmia, Cleft palate	OMIM:244200
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Micrognathia, Bifid uvula, Submucous cleft hard palate, Short femur, J...	OMIM:300990
Ververi-Brady Syndrome	Wide nose, High palate, Prominent nose, Wide mouth, Everted lower lip vermilion, Thin upper lip v...	OMIM:617982
Hennekam Syndrome	Retrognathia, Camptodactyly of finger, Wide nasal bridge, Delayed eruption of teeth, Malabsorptio...	ORPHA:2136
Kaufman Oculocerebrofacial Syndrome	High palate, Micrognathia, Diastema, Short nose, Intestinal malrotation, Thin upper lip vermilion...	OMIM:244450
Chromosome 15Q14 Deletion Syndrome	Recurrent viral upper respiratory tract infections, Short philtrum, Everted lower lip vermilion, ...	OMIM:616898
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the frontal bone, Cranium bifid...	ORPHA:306542
Ayme-Gripp Syndrome	Mandibular prognathia, Long philtrum, Wide nasal bridge, Craniofacial asymmetry, Short nose, Thin...	OMIM:601088
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Knee flexion contracture, Kyphoscoliosis, Tongue atrophy	ORPHA:496689
Diaphanospondylodysostosis	Absent in utero ossification of vertebral bodies, Webbed neck, Depressed nasal ridge, Delayed ver...	OMIM:608022
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Delayed cranial suture closure, Aplastic clavicle, Wide anterior fontanel, Ectopic anus, Wide mou...	ORPHA:85199
Meckel Syndrome 12	Wide nasal bridge, Cerebellar hypoplasia, Micrognathia, Cerebral hypoplasia, Bifid uvula, Arrhine...	OMIM:616258
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Elbow flexion contracture, Camptodactyly, Thickened cortex of long bon...	OMIM:601559
Megalocornea-Mental Retardation Syndrome	Genu valgum, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Bifid uvula, Depressed ...	OMIM:249310
Warburg Micro Syndrome 3	Cerebral cortical atrophy, Narrow palate, Micrognathia, Short nose, Downturned corners of mouth, ...	OMIM:614222
Meier-Gorlin Syndrome 2	Underdeveloped nasal alae, Micrognathia, Narrow mouth, Microcephaly, Smooth philtrum	OMIM:613800
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Hypodontia, Ankylosis, Osteolysis, Abnormal oral mucosa morphology, Carious teeth, Abnormality of...	ORPHA:659
17Q23.1Q23.2 Microdeletion Syndrome	Widely spaced teeth, Bifid nose, Depressed nasal bridge, Narrow mouth, Microcephaly, Malar flatte...	ORPHA:261279
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hypoplasia of the brainstem, Cerebellar hypoplasia, Micrognathia, Agenesis of corpus callosum, Hy...	OMIM:225790
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Wide nasal bridge, Smooth philtrum, Cryptorchidism, Hypoplasia of the zygo...	ORPHA:1778
16P12.1P12.3 Triplication Syndrome	Retrognathia, Long philtrum, Wide mouth, Short nose, Thin vermilion border, Malar flattening, Bul...	ORPHA:485405
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia	OMIM:145980
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Advanced ossification of carpal bones, Encephalocele, Joint contracture of the hand, Short ribs, ...	OMIM:224400
Chromosome 14Q11-Q22 Deletion Syndrome	High palate, Long philtrum, Wide nasal bridge, Micrognathia, Thin corpus callosum, Macroglossia, ...	OMIM:613457
Orofaciodigital Syndrome Xiv	Bifid tongue, Micrognathia, Cleft palate, Polymicrogyria, Short ribs, Supernumerary tooth, Microc...	OMIM:615948
Short Stature And Facioauriculothoracic Malformations	Cleft palate, Cleft upper lip, Short neck, High palate	OMIM:609654
Fibrochondrogenesis 2	Micrognathia, Malar flattening, Anteverted nares, Short nose	OMIM:614524
Stromme Syndrome	Jejunal atresia, Wide mouth, Wide nasal bridge, Cerebellar hypoplasia, Micrognathia, Optic nerve ...	OMIM:243605
Restrictive Dermopathy 2	Convex nasal ridge, Hypoplastic facial bones, Microretrognathia, Short clavicles, Rectal prolapse	OMIM:619793
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Familial Hypocalciuric Hypercalcemia	Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypocalcemic seizures, Renal hypophosphatemia	ORPHA:405
Arthrogryposis, Distal, Type 2B2	Narrow mouth	OMIM:618435
Microcephaly 26, Primary, Autosomal Dominant	Long philtrum, Wide nasal bridge, Prominent nasal bridge, Simplified gyral pattern, Short nose, P...	OMIM:619179
Baller-Gerold Syndrome	High palate, Malabsorption, Micrognathia, Anal atresia, Short nose, Anteriorly placed anus, Narro...	ORPHA:1225
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Convex nasal ridge, Micrognathia, Abnormality of dental morphology, Malar prominence, Microcephaly	ORPHA:2522
Ring Chromosome 10 Syndrome	Micrognathia, Hypocalcemia, Long philtrum, Thin vermilion border	ORPHA:1438
Mandibuloacral Dysplasia With Type A Lipodystrophy	Delayed cranial suture closure, Short clavicles, Convex nasal ridge, High palate, Acroosteolysis ...	OMIM:248370
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Convex nasal ridge, Micrognathia, Narrow mouth	ORPHA:1979
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, High palate, Kyphosis, Short philtrum, Everted lower lip vermilion, Tented upper li...	OMIM:616449
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Long philtrum, Wide nasal bridge, Cerebellar hypoplasia, Microretrognathia...	OMIM:300998
Deafness-Craniofacial Syndrome	Underdeveloped nasal alae, Bifid tongue, Wide nasal bridge, Short lingual frenulum, Short philtru...	ORPHA:3241
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Underdeveloped nasal alae, Micrognathia, Short nose, Microcephaly, Prominent nasal bridge	ORPHA:2083
Lelis Syndrome	Furrowed tongue, Hypodontia, Carious teeth, Mandibular prognathia	ORPHA:140936
Fgfr2-Related Bent Bone Dysplasia	Metopic depression, Natal tooth, Coronal craniosynostosis, Micrognathia, Incomplete ossification ...	ORPHA:313855
Endocrine-Cerebroosteodysplasia	Thick upper lip vermilion, Natal tooth, Bilateral cleft lip, Wide nasal bridge, Micrognathia, Tib...	OMIM:612651
Lipoid Proteinosis	High palate, Tongue nodules, Thick lower lip vermilion, Nasal polyposis, Cerebral calcification, ...	ORPHA:530
Wolf-Hirschhorn Syndrome	Abnormality of the philtrum, Cleft upper lip, Kyphosis, Wide nasal bridge, Hypodontia, Abnormal l...	ORPHA:280
Megalocornea-Intellectual Disability Syndrome	Genu varum, High palate, Kyphosis, Wide nasal bridge, Micrognathia, Short philtrum, Everted lower...	ORPHA:2479
Contractural Arachnodactyly, Congenital	Knee flexion contracture, Wrist flexion contracture, Congenital finger flexion contractures, Dist...	OMIM:121050
Mastocytosis	Hypercalcemia, Osteoporosis, Recurrent fractures	ORPHA:98292
Robinow Syndrome, Autosomal Dominant 1	Bifid tongue, Wide nasal bridge, Delayed eruption of teeth, Short lingual frenulum, Micrognathia,...	OMIM:180700
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Thin vermilion border, Narrow mouth, Microcephaly	OMIM:612447
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Cavum septum pellucidum, Micrognathia, Short philtrum, Partial agenesis of the corpus callosum, C...	OMIM:619074
Radio-Renal Syndrome	Retrognathia, Convex nasal ridge, Hypoplasia of the radius, Micrognathia, Downturned corners of m...	ORPHA:3015
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Micrognathia, Anal atresia, Narrow ...	ORPHA:3301
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Thoracic scoliosis, Short neck, Bilateral cleft lip	OMIM:616994
Miller-Dieker Lissencephaly Syndrome	Thick upper lip vermilion, Midline brain calcifications, Wide nasal bridge, Delayed eruption of t...	OMIM:247200
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	High palate, Long philtrum, Wide nasal bridge, Cavum septum pellucidum, Cerebellar vermis hypopla...	OMIM:619383
Hypohidrotic Ectodermal Dysplasia	Thick vermilion border, Abnormality of dental morphology, Hypoplasia of the maxilla, Tooth agenes...	ORPHA:238468
Distal Monosomy 12Q	Long philtrum, Wide anterior fontanel, Esophageal atresia, Micrognathia, Pyloric stenosis, Elbow ...	ORPHA:96149
Kapur-Toriello Syndrome	Camptodactyly of finger, Cleft upper lip, Joint contracture of the hand, Bulbous nose, Low hangin...	OMIM:244300
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	High palate, Deep philtrum, Micrognathia, Thin corpus callosum, Periventricular leukomalacia, Sho...	OMIM:619833
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Cleft soft palate, Wide nasal bridge, Microdontia, Broad columella, Short neck, Smooth philtrum, ...	OMIM:619950
Adenylosuccinase Deficiency	Long philtrum, Wide mouth, Short nose, Thin upper lip vermilion, Microcephaly, Smooth philtrum, A...	OMIM:103050
Autosomal Recessive Centronuclear Myopathy	Retrognathia, Bifid uvula, High palate, Narrow mouth	ORPHA:169186
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Dental malocclusion, Hyperlordosis, Long philtrum, Wide nasal bridge, Micrognathia, Maxillary lat...	ORPHA:73223
Teebi Hypertelorism Syndrome 1	Long philtrum, Natal tooth, Wide nasal bridge, Micrognathia, Short nose, Thin upper lip vermilion...	OMIM:145420
Congenital Varicella Syndrome	Cerebral cortical atrophy, Microcephaly, Micromelia	ORPHA:291
Kleefstra Syndrome 1	Tracheobronchomalacia, Mandibular prognathia, Natal tooth, Macroglossia, Everted lower lip vermil...	OMIM:610253
Spinocerebellar Ataxia-Dysmorphism Syndrome	Aplasia/Hypoplasia of the cerebellum, Macrocephaly, Short nose, Downturned corners of mouth, Ante...	ORPHA:1185
Leydig Cell Hypoplasia	Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell...	ORPHA:755
Pterygium Colli, Isolated	Short nose	OMIM:177990
Bainbridge-Ropers Syndrome	Wide nasal bridge, Micrognathia, Everted lower lip vermilion, Gingival overgrowth, Short nose, Mi...	OMIM:615485
Atelosteogenesis Type Ii	Rhizomelic arm shortening, Upper limb undergrowth, Long philtrum, Rhizomelia, Short ribs, Short m...	ORPHA:56304
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612562
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Narrow mouth	OMIM:132450
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Bifid uvula, High palate, Nasal polyposis, Median cleft lip	OMIM:155145
Holoprosencephaly 13, X-Linked	Vertebral clefting, Aplasia of the nose, Thoracic hemivertebrae, Micrognathia, Submucous cleft ha...	OMIM:301043
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Aplasia/hypoplasia of the femur, Micrognathia, Bifid uvula, Short neck, Cleft palate, Short palm,...	ORPHA:2636
Au-Kline Syndrome	Bifid tongue, Bifid uvula, Prominent metopic ridge, Lipomyelomeningocele, Cleft palate, Short nos...	OMIM:616580
Dyskeratosis Congenita, Autosomal Dominant 1	Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an...	OMIM:127550
Fryns Syndrome	Broad neck, Wide nasal bridge, Camptodactyly, Short neck, Cleft palate, Esophageal atresia, Still...	OMIM:229850
16P13.11 Microdeletion Syndrome	Cleft upper lip, Wide mouth, Short nose, Thin upper lip vermilion, Depressed nasal bridge, Microc...	ORPHA:261236
Trichodermodysplasia-Dental Alterations Syndrome	Hyperlordosis, Delayed eruption of teeth, Abnormality of dental morphology, Supernumerary tooth, ...	ORPHA:3353
Acrocephalopolydactyly	Depressed nasal ridge, Short nose	ORPHA:221054
Multiple Metaphyseal Dysplasia	Aplasia/Hypoplasia of the thumb, Depressed nasal ridge, Wide nasal bridge, Macrocephaly, Micromel...	ORPHA:93430
Cenani-Lenz Syndrome	Convex nasal ridge, Foot oligodactyly, Hypoplasia of the radius, Hypodontia, Short philtrum, Hypo...	ORPHA:3258
Acrocraniofacial Dysostosis	Genu valgum, Short 1st metacarpal, Prominent nasal bridge, Micrognathia, Advanced eruption of tee...	ORPHA:949
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Wide mouth, Thick lower lip vermilion, Simplified gyral pattern, Relative ...	OMIM:300354
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Long philtrum, Wide nasal bridge, Wide mouth, Perianal abscess, Upturned corners of mouth, Thin u...	OMIM:614684
Angioosteohypotrophic Syndrome	Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Hypoplasia of the ...	ORPHA:75508
Cardiofaciocutaneous Syndrome 1	Dental malocclusion, High palate, Webbed neck, Deep philtrum, Hyperextensibility of the finger jo...	OMIM:115150
15Q14 Microdeletion Syndrome	Convex nasal ridge, Long philtrum, Biparietal narrowing, Short philtrum, Microcephaly, Smooth phi...	ORPHA:261190
Short-Rib Thoracic Dysplasia 12	Lobulated tongue, Short toe, Neonatal death, Short foot, Natal tooth, Short ribs, Anencephaly, Sh...	OMIM:269860
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Hypermagnesemia	OMIM:145981
Fibrochondrogenesis 1	Long philtrum, Short nose, Depressed nasal bridge, Narrow mouth, Stillbirth, Anteverted nares, Ma...	OMIM:228520
Bartsocas-Papas Syndrome 1	Absent thumb, Flexion contracture, Micrognathia, Short neck, Limb undergrowth, Cleft palate, Arth...	OMIM:263650
Bamforth-Lazarus Syndrome	Cleft palate, Choanal atresia	OMIM:241850
Mandibuloacral Dysplasia With Type B Lipodystrophy	Convex nasal ridge, Micrognathia, Short nose, Narrow mouth, Abnormality of the dentition	ORPHA:90154
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Hypercalcemia, Recurrent fractures, Calcinosis	OMIM:239200
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Camptodactyly of finger, Mandibular prognathia, Long philtrum, Hypoplasia of the maxilla, Scolios...	ORPHA:1101
Blepharophimosis-Impaired Intellectual Development Syndrome	Underdeveloped nasal alae, Enamel hypoplasia, Dental malocclusion, Wide nose, Narrow nasal ridge,...	OMIM:619293
2P15P16.1 Microdeletion Syndrome	Retrognathia, High palate, Long philtrum, Wide nasal bridge, Cerebellar hypoplasia, Prominent nas...	ORPHA:261349
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Nicolaides-Baraitser Syndrome	Long philtrum, Wide mouth, Everted lower lip vermilion, Narrow nasal bridge, Microcephaly, Smooth...	ORPHA:3051
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Pierre-Robin sequence, Cerebellar hypoplasia, Micrognathia, Short nose, Anteriorly placed anus, D...	OMIM:217980
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Thick upper lip vermilion, Wide nasal bridge, Wide mouth, Thick lower lip vermilion, Macrocephaly...	OMIM:611087
Campomelic Dysplasia	Irregular dentition, Spinal dysraphism, Micrognathia, Hip dislocation, Tracheomalacia, Dislocated...	OMIM:114290
Autosomal Recessive Cutis Laxa Type 2, Classic Type	High palate, Long philtrum, Cerebellar hypoplasia, Prominent nasolabial fold, Lissencephaly, Shor...	ORPHA:357074
Oculocerebral Hypopigmentation Syndrome, Cross Type	Microdontia, Short nose, Abnormal palate morphology, Narrow mouth, Depressed nasal bridge, Microc...	ORPHA:2719
Microcephaly 13, Primary, Autosomal Recessive	Prominent nose, Small hand, Primary microcephaly, Cerebellar hypoplasia, Micrognathia, Simplified...	OMIM:616051
Pseudohypoparathyroidism Type 2	Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia	ORPHA:94090
Macs Syndrome	Irregular dentition, Recurrent aphthous stomatitis, High palate, Long philtrum, Wide nasal bridge...	OMIM:613075
Cenani-Lenz Syndactyly Syndrome	Enamel hypoplasia, Hypoplasia of the radius, Hypodontia, Micrognathia, Radioulnar synostosis, Hyp...	OMIM:212780
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome	Cleft soft palate, Wide nasal bridge, Micrognathia, Short nose, Submucous cleft soft palate, Shor...	ORPHA:2282
Multiple Pterygium-Malignant Hyperthermia Syndrome	Abnormal mandible morphology, Prominence of the zygomatic bone, Long philtrum, Advanced eruption ...	ORPHA:2215
Mosaic Variegated Aneuploidy Syndrome 2	Micrognathia, Short nose, Depressed nasal bridge, Narrow mouth, Microcephaly, Bulbous nose, Duode...	OMIM:614114
Goldberg-Shprintzen Syndrome	Hypoplasia of the brainstem, Small hand, Wide nasal bridge, Aganglionic megacolon, Oligodontia, S...	OMIM:609460
Orofaciodigital Syndrome Type 14	Lobulated tongue, Bifid tongue, Bilateral cryptorchidism, Open operculum, Supernumerary tooth, Ap...	ORPHA:434179
Achondrogenesis, Type Ib	Malar flattening, Micromelia, Stillbirth, Short ribs	OMIM:600972
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Enamel hypoplasia, Pierre-Robin sequence, Hypodontia, Oligodontia, Dental crowd...	OMIM:619184
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Prominent nose, Deep philtrum, Micrognathia, Pyloric stenosis, Short philt...	ORPHA:435638
Campomelic Dysplasia	11 pairs of ribs, Tracheobronchomalacia, Recurrent fractures, Kyphosis, Micrognathia, Hip disloca...	ORPHA:140
Craniofrontonasal Syndrome	Cleft upper lip, Wide nasal bridge, Coronal craniosynostosis, Joint laxity, Axillary pterygium, C...	OMIM:304110
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Malabsorption, Aganglionic megacolon, Micrognathia, Microcephaly, Pachygyria, C...	ORPHA:452
Ring Chromosome 7 Syndrome	Mandibular prognathia, Cerebral cortical atrophy, Prominent crus of helix, Wide nasal bridge, Nar...	ORPHA:1449
Carey-Fineman-Ziter Syndrome 1	Retrognathia, Flexion contracture, High palate, Pierre-Robin sequence, Micrognathia, Trismus, Dep...	OMIM:254940
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short nose, Depressed nasal bridge, Anteverted nares, Malar flattening	OMIM:614613
Congenital Disorder Of Glycosylation, Type 2V	Retrognathia, Underdeveloped nasal alae, High palate, Wide nasal bridge, Periventricular leukomal...	OMIM:619493
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Mild microcephaly, Wide mouth, Widely spaced teeth, Cessation of head grow...	ORPHA:411511
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Thick upper lip vermilion, Underdeveloped nasal alae, Thick lower lip vermilion, Depressed nasal ...	OMIM:608624
Branchiogenic Deafness Syndrome	Osteolytic defects of the distal phalanges of the hand, Short distal phalanx of finger, Branchial...	ORPHA:50815
Trochlea Of The Humerus, Aplasia Of	Cleft palate, Short humerus	OMIM:191000
Dyskeratosis Congenita	Periodontitis, Abnormal testis morphology, Malabsorption, Hypodontia, Neoplasm of the pancreas, T...	ORPHA:1775
Suleiman-El-Hattab Syndrome	High palate, Long philtrum, Wide mouth, Wide nasal bridge, Thick lower lip vermilion, Microretrog...	OMIM:618950
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Abnormal circulating calcium concentration, Thin bony cortex, Recurrent fractures, Hypophosphatem...	OMIM:241530
12Q14 Microdeletion Syndrome	Wide nose, Abnormal nostril morphology, Hypodontia, Micrognathia, Osteopoikilosis, Intestinal mal...	ORPHA:94063
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening, Hip dislocation	OMIM:109120
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Depressed nasal bridge, Wide nasal bridge	OMIM:167730
Radio-Tartaglia Syndrome	Retrognathia, High palate, Long philtrum, Wide mouth, Wide nasal bridge, Prominent nasal bridge, ...	OMIM:619312
Vitamin K Antagonist Embryofetopathy	Macroglossia, Short nose, Depressed nasal bridge, Anteverted nares, Choanal atresia	ORPHA:1914
Zellweger Syndrome	High palate, Wide anterior fontanel, Wide nasal bridge, Death in infancy, Malabsorption, Microgna...	ORPHA:912
Cerebrooculofacioskeletal Syndrome 2	Convex nasal ridge, Prominent nose, Micrognathia, Microcephaly, Death in childhood	OMIM:610756
Intellectual Developmental Disorder, Autosomal Dominant 58	High palate, Wide mouth, Wide nasal bridge, Submucous cleft hard palate, Protruding tongue, Broad...	OMIM:618106
Hypophosphatemic Rickets, X-Linked Recessive	Thin bony cortex, Recurrent fractures, Osteomalacia, Hypophosphatemia, Sparse bone trabeculae, Ri...	OMIM:300554
Late-Onset Isolated Acth Deficiency	Generalized bone demineralization, Hyperuricemia, Hyperkalemia, Hypercalcemia, Hyponatremia	ORPHA:199299
Multiple Myeloma	Hypercalcemia, Osteopenia, Elevated circulating creatinine concentration, Hyperproteinemia, Patho...	ORPHA:29073
Androgen Insensitivity Syndrome	Ambiguous genitalia, male, Abnormality of the uterus, Male pseudohermaphroditism, Aplasia/Hypopla...	ORPHA:754
X-Linked Hypophosphatemia	Genu varum, Genu valgum, Vertebral hyperostosis, Enthesitis, Arthritis, Abnormal dentin morpholog...	ORPHA:89936
Burning Mouth Syndrome	Abnormality of taste sensation, Strawberry tongue, Tongue pain, Parageusia, Xerostomia, Smooth to...	ORPHA:353253
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Prominent nose, Long philtrum, Wide nasal bridge, Macrocephaly, Short philtrum, Short nose, Intes...	OMIM:618316
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the frontal lobes, Wide nasal bridge, Lissencephaly, Optic nerve hypoplasia, Smooth...	ORPHA:468631
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Death in early adulthood, Micromelia, Hypoplastic scapulae, Orofacial cleft	ORPHA:79107
20Q11.2 Microduplication Syndrome	Retrognathia, Wide nasal bridge, Abnormal nasal bridge morphology, Tented philtrum, Abnormal oral...	ORPHA:363659
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Aganglionic megacolon, Anal atresia, Short nose, Tented upper lip vermilion, B...	OMIM:614749
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Retrognathia, Micrognathia, Prominent nasal tip, Everted lower lip vermilion, Thin upper lip verm...	OMIM:617101
Intellectual Disability-Strabismus Syndrome	High palate, Prominent nose, Wide mouth, Narrow nasal ridge, Micrognathia, Thick vermilion border...	ORPHA:363528
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Microcephaly, Wide mouth, Thick vermilion border	ORPHA:85290
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Micrognathia	OMIM:243440
Feingold Syndrome	Esophageal atresia, Micrognathia, Depressed nasal bridge, Microcephaly, Anteverted nares, Annular...	ORPHA:1305
Lateral Meningocele Syndrome	Meningocele, Vertebral fusion, Biconcave vertebral bodies, High palate, Long philtrum, Kyphosis, ...	OMIM:130720
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Dystonia, Juvenile-Onset	Cleft palate, Cleft upper lip, Hypoplastic scapulae, Kyphoscoliosis	OMIM:607371
Monosomy 13Q34	Micrognathia, Hypercalcemia	ORPHA:96168
Beta-Mercaptolactate Cysteine Disulfiduria	Convex nasal ridge, High palate, Anteverted nares, Micromelia	ORPHA:1035
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Short ribs, Micrognathia, Vertebral wedging, Missing ribs, Micromelia, Intestinal malrotation, Th...	OMIM:617866
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Macrocephaly, Bulbous nose, Short nose, Thin upper lip vermilion, Downturned corners of mouth, De...	OMIM:618430
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Thin bony cortex, Genu valgum, Rhizomelia, Generalized joint laxity, M...	OMIM:613848
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Cerebellar hypoplasia, Mandibular prognathia, Microcephaly, Short nose	OMIM:618087
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Supernumerary tooth, Depressed nasal bridge, Anteverted nares, Thin vermilion border, Malar flatt...	ORPHA:86818
Beta-Thalassemia Intermedia	Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Erythro...	ORPHA:231222
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Selective tooth agenesis, Microdontia, Depressed nasal tip, Cleft palate, Choanal atresia, Absenc...	OMIM:129900
Refractory Celiac Disease	Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Osteoporosis, Hypoalbuminemia	ORPHA:398063
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short tibia, Spinal dysraphism, Flexion contracture, Wide nasal bridge, Micrognathia, Epiphyseal ...	ORPHA:96334
Cerebrofaciothoracic Dysplasia	Wide nose, Cleft upper lip, Cerebral cortical atrophy, Wide mouth, Macrocephaly, Short nose, Hypo...	ORPHA:1394
Vici Syndrome	Wide nose, Cleft upper lip, High palate, Everted upper lip vermilion, Long philtrum, Micrognathia...	OMIM:242840
Harel-Yoon Syndrome	Micrognathia, Mandibular prognathia, Short nose	OMIM:617183
Hamamy Syndrome	Neck pterygia, Dental malocclusion, Enamel hypoplasia, High palate, Long philtrum, Wide mouth, Wi...	OMIM:611174
Restrictive Dermopathy 1	Convex nasal ridge, Flexion contracture, Micrognathia, Ankylosis, Choanal atresia, Short umbilica...	OMIM:275210
Acromesomelic Dysplasia 2A	Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Death in infancy, Hypoplasia of t...	OMIM:200700
Robinow Syndrome	Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Gingival overgrowth, Mes...	ORPHA:97360
Stüve-Wiedemann Syndrome	Camptodactyly of finger, Knee flexion contracture, Genu valgum, Flexion contracture, Recurrent fr...	ORPHA:3206
Trisomy 18	Camptodactyly of finger, Non-midline cleft lip, Narrow palate, Webbed neck, Esophageal atresia, S...	ORPHA:3380
Monosomy 9P	High palate, Long philtrum, Micrognathia, Agenesis of corpus callosum, Choanal atresia, Short nos...	ORPHA:261112
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Esophagitis, Micrognathia, Microcephaly, Wide mouth	ORPHA:79350
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Lacrimoauriculodentodigital Syndrome	Enamel hypoplasia, Absent thumb, Hypoplasia of the radius, Microdontia, Hypodontia, Bifid uvula, ...	ORPHA:2363
Multiple Epiphyseal Dysplasia Type 4	Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, Metatarsal synostosis,...	ORPHA:93307
Zttk Syndrome	Flexion contracture, Wide nasal bridge, Bifid uvula, Intestinal atresia, Short nose, Narrow mouth...	OMIM:617140
Simpson-Golabi-Behmel Syndrome	Camptodactyly of finger, Wide nasal bridge, Short neck, Cleft palate, Short toe, Vertebral fusion...	ORPHA:373
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cerebral cortical atrophy, Increased head circumference, Micrognathia, Microdontia, Gingival over...	OMIM:300868
2Q23.1 Microduplication Syndrome	Prominent nose, Wide mouth, Prominent nasal tip, Thin upper lip vermilion, Dental crowding, Bulbo...	ORPHA:313947
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Saethre-Chotzen Syndrome	Delayed cranial suture closure, Convex nasal ridge, Narrow palate, Prominent crus of helix, Coron...	OMIM:101400
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Micromelia	OMIM:273680
Doors Syndrome	Short 5th finger, Wide nasal bridge, Short lingual frenulum, Spina bifida occulta, Sirenomelia, C...	ORPHA:79500
Metatropic Dysplasia	Cleft palate, Depressed nasal bridge, Hypoplastic cervical vertebrae, Micromelia	ORPHA:2635
Hajdu-Cheney Syndrome	Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Micrognathia, Dislocated ra...	OMIM:102500
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Pierre-Robin sequence, Everted upper lip vermilion, Wide mouth, Deep philtrum, Micrognathia, Shor...	OMIM:618381
Hypertrichosis Cubiti	Microcephaly, Prominent nasal bridge, Rhizomelia, Micromelia	ORPHA:2220
Nijmegen Breakage Syndrome	Cleft upper lip, Deep philtrum, Micrognathia, Malar prominence, Recurrent bronchitis, Anal atresi...	OMIM:251260
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Wide nose, High palate, Osteomyelitis, Micrognathia, Recurrent sinusitis, Joint hypermobility, Eo...	OMIM:618282
Pseudohypoparathyroidism, Type Ia	Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Delayed eruption of teeth, Osteoporosi...	OMIM:103580
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Convex nasal ridge, Long philtrum, Prominent nasal tip, Macrocephaly, Microretrognathia, Depresse...	OMIM:618870
Infantile Systemic Hyalinosis	Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia...	ORPHA:2176
Orofaciodigital Syndrome V	Lobulated tongue, Bifid tongue, High palate, Hypodontia, Aganglionic megacolon, Bifid uvula, Anky...	OMIM:174300
X-Linked Intellectual Disability, Pai Type	Narrow mouth, Prominent nasal bridge	ORPHA:85322
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Thick upper lip vermilion, Dental malocclusion, Retrognathia, Velopharyngeal insufficiency, Campt...	ORPHA:363444
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Underdeveloped nasal alae, Mandibular prognathia, Cerebral cortical atrophy, Long philtrum, Micro...	OMIM:616007
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, High palate, Prominent crus of helix, Joint hypermobility, Everted lower l...	OMIM:617804
Johnson Neuroectodermal Syndrome	Everted lower lip vermilion, Anosmia, Microcephaly, Carious teeth, Cleft palate, Bulbous nose, Ch...	ORPHA:2316
Severe X-Linked Intellectual Disability, Gustavson Type	Cerebellar hypoplasia, Micrognathia, Short nose, Recurrent upper respiratory tract infections, Mi...	ORPHA:3078
Ellis Van Creveld Syndrome	Genu valgum, Capitate-hamate fusion, Delayed eruption of teeth, Microdontia, Hypodontia, Synostos...	ORPHA:289
Autosomal Recessive Spastic Paraplegia Type 77	Retrognathia, Kyphoscoliosis, Macrodontia of permanent maxillary central incisor	ORPHA:466722
Congenital Insensitivity To Pain With Severe Intellectual Disability	Micrognathia, Limb undergrowth, Prominent nose	ORPHA:453510
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Retrognathia, Knee flexion contracture, Genu valgum, Hip contracture, Prominent crus of helix, Wi...	OMIM:619194
Orofaciodigital Syndrome Type 6	Lobulated tongue, Aplasia/Hypoplasia of the corpus callosum, High palate, Tongue nodules, Promine...	ORPHA:2754
Testicular Agenesis	Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,...	ORPHA:325124
Osteogenesis Imperfecta, Type Xx	Retrognathia, Mandibular prognathia, High palate, Narrow palate, Bulbous nose, Agenesis of perman...	OMIM:618644
Wolf-Hirschhorn Syndrome	Convex nasal ridge, Wide nasal bridge, Micrognathia, Hip dislocation, Short hallux, Abnormal ster...	OMIM:194190
Johnson Neuroectodermal Syndrome	Retrognathia, Choanal stenosis, Decreased testicular size, Anosmia, Microcephaly, Carious teeth, ...	OMIM:147770
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Retrognathia, Mandibular prognathia, Prominent nose, Cerebral cortical atrophy, Wide mouth, Thick...	OMIM:619576
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Wide nasal bridge, Abnormal lip mo...	ORPHA:2759
Dominant Beta-Thalassemia	Genu valgum, Malar prominence, Hyperplasia of the maxilla, Depressed nasal bridge, Osteoporosis, ...	ORPHA:231226
Intellectual Developmental Disorder, Autosomal Dominant 47	Widely-spaced incisors, Wide mouth, Microcephaly, Cerebral atrophy, Prominent nasal bridge	OMIM:617635
Focal Facial Dermal Dysplasia Type Iv	Cleft palate, Cleft upper lip	ORPHA:398189
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Wide nose, Cerebral cortical atrophy, Long philtrum, Abnormal cortical gyration, Cerebellar hypop...	ORPHA:314647
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Long philtrum, Cerebellar hypoplasia, Hypodysplasia of the corpus callosum, Micrognath...	OMIM:257300
Spondyloepiphyseal Dysplasia Congenita	Pierre-Robin sequence, Limited elbow movement, Kyphosis, Delayed calcaneal ossification, Hypoplas...	OMIM:183900
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Non-midline cleft lip, Depressed nasal ridge, Absent nasal septal cartilage, Hip dis...	ORPHA:2003
Trisomy 20P	Camptodactyly of finger, Ectopic anus, Microdontia, Micrognathia, Everted lower lip vermilion, Sh...	ORPHA:261318
Ophthalmomandibulomelic Dysplasia	Temporomandibular joint ankylosis, Fibular hypoplasia, Mesomelia	OMIM:164900
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi...	ORPHA:124
Monosomy 9Q22.3	Odontogenic keratocysts of the jaw, Long philtrum, Delayed eruption of teeth, Macrocephaly, Short...	ORPHA:77301
3C Syndrome	Aplasia/Hypoplasia of the cerebellum, Wide nasal bridge, Ectopic anus, Micrognathia, Macrocephaly...	ORPHA:7
Alkuraya-Kucinskas Syndrome	Hypoplasia of the brainstem, High palate, Aplasia/Hypoplasia of the corpus callosum, Cerebellar h...	OMIM:617822
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Cerebellar hypoplasia, Short nose, Celiac disease, Depressed nasal bridge, Absent cupid's bow, Hy...	ORPHA:284169
3Mc Syndrome 1	Cleft upper lip, Short 5th finger, Wide anterior fontanel, Coronal craniosynostosis, Dental crowd...	OMIM:257920
Orofaciodigital Syndrome Type 3	Irregular dentition, Lobulated tongue, Short sternum, Bifid uvula, Cerebellar vermis hypoplasia, ...	ORPHA:2752
Larsen-Like Syndrome	Dental malocclusion, Absent nasal bridge, Macrocephaly, Cleft palate, Malar flattening	OMIM:608545
Alazami Syndrome	Wide nose, Mild microcephaly, Wide mouth, Widely spaced teeth, Short philtrum, Malar flattening, ...	ORPHA:319671
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Long philtrum, Cerebellar hypoplasia, Micrognathia, Short nose, Depressed nasal bridge, Meckel di...	OMIM:602613
Neu-Laxova Syndrome 1	Wide nose, Cleft upper lip, Broad neck, Joint contracture of the hand, Depressed nasal ridge, Thi...	OMIM:256520
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short ribs, Short nose, Depressed nasal bridge, Limb undergrowth, Anteverted nares, Death in chil...	OMIM:618961
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	High palate, Deep philtrum, Micrognathia, Short nose, Depressed nasal bridge, Anteverted nares, T...	ORPHA:314655
White-Sutton Syndrome	Cerebral cortical atrophy, High palate, Subcortical cerebral atrophy, Short philtrum, Thin upper ...	ORPHA:468678
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip, Absent radius	OMIM:179400
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Hypophosphatemic rickets, Osteomalacia, Abnormality of the dentition	OMIM:193100
Koolen-De Vries Syndrome	Cleft upper lip, Vertebral fusion, Narrow palate, High palate, Kyphosis, Widely spaced teeth, Pyl...	OMIM:610443
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Narrow mouth, Prominent nasal bridge	ORPHA:261222
Gapo Syndrome	Mandibular prognathia, Long philtrum, Delayed eruption of teeth, Micrognathia, Everted lower lip ...	ORPHA:2067
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Abnormal periventricular white matter morphology, Hypoplasia of the brainstem, Short 5th finger, ...	ORPHA:500159
Oculocerebrorenal Syndrome Of Lowe	Gingivitis, Delayed eruption of teeth, Micrognathia, Taurodontia, Everted lower lip vermilion, To...	ORPHA:534
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Wide anterior fontanel, Natal tooth, Short ribs, Absent nasal bridge, Micrognathia, ...	OMIM:617925
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Hypoplasia of the ut...	ORPHA:168563
Short Stature And Microcephaly With Genital Anomalies	Convex nasal ridge, Narrow mouth, Prominent nose, Microcephaly	OMIM:618702
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Broad neck, Micrognathia, Bifid uvula, Low posterior hairline, Cleft palate	OMIM:606164
16P11.2P12.2 Microdeletion Syndrome	Absent nasal bridge, Bulbous nose, Microretrognathia, Short nose, Anteverted nares, Long nose, Op...	ORPHA:261211
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Long philtrum, Cerebellar hypoplasia, Lissencephaly, Short nose, Secondary micr...	ORPHA:50810
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Cleft upper lip, Abnormal nasopharynx morphology, Decreased response to growt...	OMIM:604292
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Retrognathia, High palate, Macrocephaly, Cleft palate, Prominent nasal bridge, Agenesis of corpus...	ORPHA:52055
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Micrognathia, Lower limb undergrowth, Intestinal malrotation, Abnormally ossified vertebrae, Tibi...	ORPHA:3035
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth, Osteoporosis, Osteopenia, Recurrent fractures	OMIM:126550
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Wide nose, Cleft upper lip, Absent or minimally ossified vertebral bodies, Bifid tongue, Long phi...	ORPHA:93271
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Micrognathia, Short nose	ORPHA:1129
Elliptocytosis 2	Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:130600
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	High palate, Long philtrum, Deep philtrum, Cerebellar hypoplasia, Macrocephaly, Short nose, Downt...	OMIM:615398
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Mandibular prognathia, Cessation of head growth, Wide mouth	ORPHA:411515
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia	OMIM:612526
Lethal Congenital Contracture Syndrome 10	Stiff neck, High palate, Long philtrum, Narrow palate, Convex nasal ridge, Micrognathia, Torticol...	OMIM:617022
Acromelic Frontonasal Dysplasia	Meningocele, Aplasia/Hypoplasia of the tibia, Encephalocele, Patellar hypoplasia, Wide mouth, Bif...	ORPHA:1827
Tetrasomy 5P	High palate, Long philtrum, Wide nasal bridge, Cerebellar hypoplasia, Micrognathia, Macrocephaly,...	ORPHA:3309
Cousin Syndrome	Wrist flexion contracture, Anterior rounding of vertebral bodies, Rhizomelia, Humeroradial synost...	OMIM:260660
Rubinstein-Taybi Syndrome 1	Delayed cranial suture closure, Convex nasal ridge, Flexion contracture, Patellar dislocation, Wi...	OMIM:180849
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Prominent nose, Wide mouth, Widely spaced teeth, Increased head circumference, Thick corpus callo...	OMIM:300967
Prolidase Deficiency	High palate, Micrognathia, Short nose, Depressed nasal bridge, Concave nasal ridge	OMIM:170100
Nephrotic Syndrome, Type 11	High palate, Micrognathia, Cleft lip, Smooth philtrum, Cleft palate	OMIM:616730
Nijmegen Breakage Syndrome	Retrognathia, Non-midline cleft lip, Convex nasal ridge, Prominent nose, Deep philtrum, Anal atre...	ORPHA:647
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebral cortical atrophy, Wide mouth, Wide nasal bridge, Micrognathia, Short philtrum, Cerebella...	OMIM:618454
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Cerebral cortical atrophy, High palate, Long philtrum, Abnormal cortical gyration, Micrognathia, ...	OMIM:617527
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Enamel hypoplasia, Knee flexion contracture, Mandibular prognathi...	OMIM:151050
1P21.3 Microdeletion Syndrome	Wide mouth, Micrognathia, Macrocephaly, Short nose, Broad nasal tip	ORPHA:293948
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Increased susceptibility to fractures, Otosclerosis, Recurrent fractur...	OMIM:166200
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hyposmia, Bifid nose, Anosmia, Cleft lip, Cleft palate	OMIM:614838
Musculocontractural Ehlers-Danlos Syndrome	High palate, Long philtrum, Malrotation of small bowel, Prominent nasolabial fold, Microretrognat...	ORPHA:2953
Ssr4-Cdg	Abnormal periventricular white matter morphology, Abnormality of upper lip vermillion, Wide mouth...	ORPHA:370927
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Osteopetrosis, Decreased osteoclast co...	OMIM:259710
Double Outlet Right Ventricle	Submucous cleft hard palate, Abnormality of cartilage of external ear, Intestinal malrotation, De...	ORPHA:3426
Dysplastic Cortical Hyperostosis	Limb undergrowth, Microcephaly	ORPHA:2204
Leukocyte Adhesion Deficiency Type Ii	Hypoplasia of the frontal lobes, Mandibular prognathia, Narrow palate, Depressed nasal ridge, Dee...	ORPHA:99843
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy	OMIM:613435
Frank-Ter Haar Syndrome	Delayed cranial suture closure, Micrognathia, Camptodactyly, Redundant neck skin, Short palm, Gin...	OMIM:249420
Myhre Syndrome	Short toe, Vertebral fusion, Mandibular prognathia, Laryngotracheal stenosis, Short philtrum, Sho...	OMIM:139210
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cleft palate, Radial club hand, Median cleft lip	ORPHA:2165
Lathosterolosis	High palate, Long philtrum, Micrognathia, Biparietal narrowing, Cerebral calcification, Short nos...	ORPHA:46059
46,Xy Sex Reversal 4	Distal symphalangism, High palate, Long philtrum, Prominent nose, Depressed nasal ridge, Microgna...	OMIM:154230
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:300510
Multiple Pterygium Syndrome, Escobar Variant	Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b...	OMIM:265000
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Mandibular pain, Hypercalcemia, Osteoporosis	ORPHA:99880
Intellectual Developmental Disorder, X-Linked 98	Underdeveloped nasal alae, Mandibular prognathia, Short philtrum, Short nose, Downturned corners ...	OMIM:300912
Myoclonic-Astatic Epilepsy	Long philtrum, Wide mouth, Wide nasal bridge, Thick lower lip vermilion, Thin upper lip vermilion...	ORPHA:1942
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cleft upper lip, Micrognathia, Anal atresia, Meningoencephalocele, Cleft palate, Occipital enceph...	OMIM:236670
Congenital Disorder Of Deglycosylation 2	High palate, Micrognathia, Thin corpus callosum, Macrocephaly, Macroglossia, Cerebellar vermis hy...	OMIM:619775
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Hypoplastic sweat glands, Natal tooth, Short philtrum, Concave nasal ridge, Cleft palate	OMIM:617337
Grant Syndrome	Micrognathia, Wormian bones, Tibial bowing	OMIM:138930
Fraser Syndrome	Bifid tongue, Midline nasal groove, Ectopic anus, Wide nasal bridge, Laryngeal stenosis, Subglott...	ORPHA:2052
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia	Cleft palate, Anosmia, Cleft lip	OMIM:612370
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	High palate, Wide mouth, Micrognathia, Short philtrum, Optic nerve hypoplasia, Abnormal cerebral ...	ORPHA:363686
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	Abnormality of mouth shape, Wide mouth	ORPHA:83619
Hajdu-Cheney Syndrome	Abnormal mandible morphology, Patellar dislocation, Wide nasal bridge, Micrognathia, Osteolysis, ...	ORPHA:955
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Micrognathia, Downturned corners of mouth, Depressed nasal bridge, Anteverted nares, Craniosynost...	ORPHA:1064
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Oculocerebrofacial Syndrome, Kaufman Type	Retrognathia, Wide mouth, Micrognathia, Abnormal lip morphology, Microdontia, Short philtrum, Abn...	ORPHA:2707
Disorder Of Sex Development-Intellectual Disability Syndrome	Thin vermilion border, Downturned corners of mouth, Short philtrum, Short nose	ORPHA:2983
Branchiootorenal Syndrome 1	High palate, Microdontia, Bifid uvula, Intestinal malrotation, Congenital hip dislocation, Branch...	OMIM:113650
Branchio-Oculo-Facial Syndrome	Non-midline cleft lip, High palate, Upper lip pit, Deep philtrum, Wide nasal bridge, Microdontia,...	ORPHA:1297
Dubowitz Syndrome	Delayed cranial suture closure, Aplasia/Hypoplasia of the thumb, High palate, Wide anterior fonta...	ORPHA:235
Developmental And Epileptic Encephalopathy 6B	Narrow mouth	OMIM:619317
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	High palate, Short ribs, Short lingual frenulum, Microdontia, Micromelia, Agenesis of permanent t...	OMIM:614091
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Kyphosis, Thick lower lip vermilion, Macroglossia, Diastema, Short nose, A...	OMIM:301040
Ctcf-Related Neurodevelopmental Disorder	Macrodontia of permanent maxillary central incisor, Long philtrum, Microdontia, Short philtrum, S...	ORPHA:363611
Diethylstilbestrol Syndrome	Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa...	ORPHA:1916
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Obtuse angle of mandible, Delayed cranial suture...	OMIM:309350
Achondrogenesis, Type Ia	Hypoplastic sacrum, Short ribs, Abnormal foot bone ossification, Hypoplasia of the radius, Hypopl...	OMIM:200600
Cole-Carpenter Syndrome	Recurrent fractures, Kyphosis, Delayed eruption of teeth, Micrognathia, Scoliosis, Joint hyperfle...	ORPHA:2050
Weiss-Kruszka Syndrome	Horizontal crus of helix, Agenesis of corpus callosum, Short nose, Anteverted nares, Hypoplasia o...	OMIM:618619
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Wide nose, Subcortical cerebral atrophy, High palate, Narrow mouth, Malar flattening, Abnormal co...	ORPHA:2463
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Wide nasal bridge, Micrognathia, ...	ORPHA:1352
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, Camptodactyly, P...	OMIM:619148
8P23.1 Microdeletion Syndrome	High palate, Wide nasal bridge, Micrognathia, Biparietal narrowing, Short nose, Microcephaly, Thi...	ORPHA:251071
Coffin-Siris Syndrome 7	Wide nose, Convex nasal ridge, Wide mouth, Thick lower lip vermilion, Microdontia, Short philtrum...	OMIM:618027
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	High palate, Long philtrum, Wide mouth, Thick lower lip vermilion, Micrognathia, Oligodontia, Mac...	OMIM:309590
Bartter Syndrome, Type 1, Antenatal	Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri...	OMIM:601678
Timothy Syndrome	Microdontia, Hypocalcemia, Thin upper lip vermilion	OMIM:601005
Poikiloderma With Neutropenia	Retrognathia, Underdeveloped nasal alae, Long philtrum, Micrognathia, Recurrent sinusitis, Short ...	OMIM:604173
Trichothiodystrophy 5, Nonphotosensitive	Global brain atrophy, Mandibular prognathia, Wide mouth, Cerebellar hypoplasia, Widely spaced pri...	OMIM:300953
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Downturned corners of mouth, Depressed nasal bridge, Short philtrum, Wide mouth	OMIM:619759
3Q29 Microdeletion Syndrome	High palate, Macrocephaly, Short philtrum, Short nose, Everted lower lip vermilion, Microcephaly,...	ORPHA:65286
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypophosphatemic rickets, Hypoplasia of teeth	OMIM:613312
Parathyroid Carcinoma	Hypophosphatemia, Mandibular pain, Hypercalcemia, Osteoporosis	ORPHA:143
Cleft Palate With Or Without Ankyloglossia, X-Linked	Cleft palate, Ankyloglossia, Bifid uvula	OMIM:303400
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Mandibular prognathia, Kyphosis, Prominent nasal tip, Short philtrum, Everted lower...	ORPHA:464738
Prader-Willi Syndrome Due To Translocation	Cerebral cortical atrophy, Micrognathia, Bifid uvula, Everted lower lip vermilion, Alveolar ridge...	ORPHA:177907
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Diaphyseal sclerosis, Craniofacial osteosclerosis, Tented upper lip...	OMIM:618476
Alpha-Heavy Chain Disease	Hypocalcemia	ORPHA:100025
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Webbed neck, Bifid tongue, Joint stiffness, Cleft palate, Abnor...	ORPHA:2167
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Progressive microcephaly, Cerebral atrophy, Tongue atrophy	OMIM:614678
Branchiooculofacial Syndrome	Fusion of middle ear ossicles, Cleft upper lip, Hyperlordosis, Short nasal septum, Lower lip pit,...	OMIM:113620
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Shoulder dislocation, Microdontia, Micrognathia, Elbow flexion contracture, Hip dislocation, Disl...	OMIM:245600
Beta-Thalassemia Major	Genu valgum, Malar prominence, Hyperplasia of the maxilla, Depressed nasal bridge, Osteoporosis, ...	ORPHA:231214
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Wide nose, Mandibular prognathia, Cleft ala nasi, Decreased testicular size, Narrow nasal base, B...	ORPHA:3044
Severe Oculo-Renal-Cerebellar Syndrome	Aplasia/Hypoplasia of the cerebellum, Mandibular prognathia, Wide mouth, Malar prominence, Hypopl...	ORPHA:2715
9Q21.13 Microdeletion Syndrome	Vertebral segmentation defect, Wide nasal ridge, Downturned corners of mouth, Abnormal tongue mor...	ORPHA:531151
Cog1-Cdg	High palate, Pierre-Robin sequence, Long philtrum, Wide nasal bridge, Micrognathia, Thin upper li...	ORPHA:263508
Holoprosencephaly 11	Cleft palate, Agenesis of corpus callosum, Microcephaly, Cleft lip	OMIM:614226
Microphthalmia, Syndromic 11	Cleft palate, Cleft upper lip	OMIM:614402
Macrocephaly/Autism Syndrome	High palate, Long philtrum, Biparietal narrowing, Short nose, Depressed nasal bridge, Postnatal m...	OMIM:605309
Celiac Disease, Susceptibility To, 1	Enamel hypoplasia, Recurrent aphthous stomatitis, Stomatitis, Steatorrhea, Rickets, Celiac diseas...	OMIM:212750
Velocardiofacial Syndrome	Retrognathia, Underdeveloped nasal alae, Pierre-Robin sequence, Velopharyngeal insufficiency, Sub...	OMIM:192430
Phosphoribosylaminoimidazole Carboxylase Deficiency	Choanal stenosis, Esophageal atresia, Short nose, Bilateral choanal atresia, Tracheoesophageal fi...	OMIM:619859
Peroxisome Biogenesis Disorder 1A (Zellweger)	High palate, Wide anterior fontanel, Micrognathia, Epiphyseal stippling, Macroglossia, Redundant ...	OMIM:214100
Odontoonychodermal Dysplasia	Hypodontia, Widely spaced primary teeth, Agenesis of permanent teeth, Smooth tongue, Conical inci...	OMIM:257980
Plummer-Vinson Syndrome	Esophageal web, Tongue atrophy, Glossitis, Narrow mouth, Intra-oral hyperpigmentation, Cheilitis	ORPHA:54028
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Baraitser-Winter Cerebrofrontofacial Syndrome	Retrognathia, Wide nose, Cerebral cortical atrophy, Prominent nose, Long philtrum, Wide mouth, Wi...	ORPHA:2995
Mccune-Albright Syndrome	Dental malocclusion, Monostotic fibrous dysplasia, Recurrent fractures, Osteomalacia, Aneurysmal ...	ORPHA:562
Dihydropyrimidine Dehydrogenase Deficiency	Retrognathia, High palate, Deep philtrum, Delayed eruption of teeth, Hyperintensity of cerebral w...	ORPHA:1675
Skin Creases, Congenital Symmetric Circumferential, 2	Wide nasal bridge, Micrognathia, Microdontia, Thin upper lip vermilion, Depressed nasal bridge, N...	OMIM:616734
46,Xx Sex Reversal 2	Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest...	OMIM:278850
Smith-Lemli-Opitz Syndrome	Bifid tongue, Wide nasal bridge, Micrognathia, Hip dislocation, Short neck, Tooth agenesis, Cleft...	ORPHA:818
Distal Monosomy 9P	Wide nasal bridge, Short nose, Cleft palate, High, narrow palate, Abnormality of the dentition	ORPHA:1642
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Convex nasal ridge, Delayed eruption of teeth, Thick lower lip vermilion, Micrognathia, Abnormali...	ORPHA:369950
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus	OMIM:612964
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cleft upper lip, Bifid tongue, Short ribs, Absent tibia, Anal atresia, Hypoplasia of the ulna, In...	OMIM:613091
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, High palate, Long philtrum, Narrow nasal ridge, Cerebellar hypoplasia, Mic...	OMIM:619512
Gm1 Gangliosidosis	Encephalomalacia, Mandibular prognathia, Long philtrum, Depressed nasal ridge, Macroglossia, Abno...	ORPHA:354
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Wide mouth, Limitation of movement at ankles, Widely spaced teeth, Protrud...	ORPHA:98794
Fraser Syndrome 1	Underdeveloped nasal alae, Difficulty in tongue movements, Cleft upper lip, Abnormal small intest...	OMIM:219000
Meckel Syndrome, Type 1	Camptodactyly of finger, Lobulated tongue, Cleft upper lip, Enlarged naris, Webbed neck, Wide mou...	OMIM:249000
Phocomelia, Schinzel Type	Foot oligodactyly, Hypoplasia of the radius, Micrognathia, Anal atresia, Micromelia, Aplasia of t...	ORPHA:2879
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, High palate, Abnormal external nose morphology, Solitary median maxillary cen...	ORPHA:556955
Nestor-Guillermo Progeria Syndrome	Dental malocclusion, Delayed closure of the anterior fontanelle, Convex nasal ridge, Flexion cont...	OMIM:614008
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Macroglossia, Short nose, Depressed nasal bridge, Concave nasal ridge, Anteverted nares, Malar fl...	OMIM:613038
Autosomal Recessive Faciodigitogenital Syndrome	High palate, Long philtrum, Wide mouth, Deep philtrum, Micrognathia, Short nose, Everted lower li...	ORPHA:1974
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Thrombocytopenia-Absent Radius Syndrome	Genu varum, Patellar dislocation, Micrognathia, Fused cervical vertebrae, Hip dislocation, Fibula...	ORPHA:3320
Roberts-Sc Phocomelia Syndrome	Wrist flexion contracture, Absent thumb, Wide nasal bridge, Micrognathia, Elbow flexion contractu...	OMIM:268300
Donnai-Barrow Syndrome	Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Short nose, Intestinal malrotation, Depr...	ORPHA:2143
Pfeiffer Syndrome Type 2	High palate, Anal atresia, Short nose, Intestinal malrotation, Depressed nasal bridge, Malar flat...	ORPHA:93259
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Macrocephaly at birth, High palate, Wide mouth, Rectovestibular fistula, Gingival overgrowth, Ana...	ORPHA:280633
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Enamel hypoplasia, Esophageal stricture, Narrow mouth, Oral mucosal blisters, Abnormal esophagus ...	OMIM:226600
Distal Trisomy 17Q	Genu valgum, High palate, Rhizomelia, Wide mouth, Micrognathia, Short philtrum, Joint laxity, Thi...	ORPHA:3379
Tolchin-Le Caignec Syndrome	High palate, Prominent nose, Wide nasal bridge, Micrognathia, Submucous cleft hard palate, Narrow...	OMIM:618971
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Absent nares, Single naris, Hyposmia, Bifid uvula, Submucous cleft hard palate, Failure of erupti...	ORPHA:2250
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Cleft upper lip, Short 5th finger, Thin upper lip vermilion, Tented upper lip v...	OMIM:600987
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Hypodontia, Short nose, Narrow nasal bridge, Microcephaly, Hypoplasia of the corpus callosum	ORPHA:544503
Solitary Median Maxillary Central Incisor	Cleft upper lip, Abnormal nasopharynx morphology, Prominent median palatal raphe, Torus palatinus...	OMIM:147250
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, High palate, Wide mouth, Micrognathia, Macroglossia, Subglottic stenosis, Short palm, ...	OMIM:614501
Classical-Like Ehlers-Danlos Syndrome Type 2	Shoulder dislocation, Micrognathia, Hip dislocation, Elbow dislocation, Knee dislocation, Radioul...	ORPHA:536532
Meier-Gorlin Syndrome 6	Underdeveloped nasal alae, Depressed nasal ridge, Simplified gyral pattern, Microretrognathia, Sh...	OMIM:616835
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Micrognathia, Mandibular prognathia, Optic nerve hypoplasia, Short nose	ORPHA:496790
Complete Androgen Insensitivity Syndrome	Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo...	ORPHA:99429
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Non-midline cleft lip, Abnormality of the philtrum, Short columella, Cleft palate, Umbilical hernia	ORPHA:1770
Singleton-Merten Syndrome 1	Osteolytic defects of the phalanges of the hand, Hip subluxation, Eruption failure, Genu valgum, ...	OMIM:182250
Familial Visceral Myopathy	Micrognathia, Aganglionic megacolon, Hyperparathyroidism, Microcephaly, Anteverted nares, Cleft p...	ORPHA:2604
Renpenning Syndrome 1	Mandibular prognathia, High palate, Wide nasal bridge, Micrognathia, Macrodontia, Short philtrum,...	OMIM:309500
Mosaic Trisomy 8	Camptodactyly of finger, Wide nose, High palate, Patellar aplasia, Micrognathia, Vertebral segmen...	ORPHA:96061
Kleefstra Syndrome	Mandibular prognathia, Cerebral cortical atrophy, Delayed eruption of teeth, Advanced eruption of...	ORPHA:261494
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, High palate, Long philtrum, Depressed nasal bridge, Pancreatic aplasia, Micro...	OMIM:618500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, High palate, Long philtrum, Micrognathia, Macrocephaly, Anal atresia, Short nose, ...	OMIM:614080
Hutchinson-Gilford Progeria Syndrome	Micrognathia, Generalized osteoporosis, Malar flattening, Osteolysis	OMIM:176670
Oxoglutaric Aciduria	Abnormal salivary gland morphology	ORPHA:31
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Underdeveloped nasal alae, Biparietal narrowing, Short nose, Anteverted nares, Glossoptosis	ORPHA:2031
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Micrognathia, Osteopetrosis	OMIM:617306
Tetraamelia Syndrome 1	Cleft upper lip, Single naris, Micrognathia, Anal atresia, Tetraamelia, Cleft palate, Choanal atr...	OMIM:273395
Renal And Mullerian Duct Hypoplasia	Micrognathia, Short nose	OMIM:266810
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Global brain atrophy, Abnormal periventricular white matter morphology, Mandibu...	ORPHA:488632
Spastic Paraplegia 51, Autosomal Recessive	Cerebral cortical atrophy, Wide nasal bridge, Wide mouth, Short philtrum, Microcephaly, Long nose...	OMIM:613744
Galloway-Mowat Syndrome 3	High palate, Simplified gyral pattern, Micrognathia, Lissencephaly, Narrow mouth, Microcephaly, P...	OMIM:617729
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short nose, Tented upper lip vermilion, Depressed nasal bridge, Microcephaly, Malar flattening, T...	OMIM:616723
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Hypointensity of cerebral white matter on MRI, Wide mouth, Macrocephaly, Downturned corners of mo...	OMIM:300860
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Recurrent upper r...	ORPHA:2399
Mullerian Aplasia And Hyperandrogenism	Aplasia of the uterus, Abnormal external genitalia, Aplasia of the vagina, Aplasia of the fallopi...	OMIM:158330
Jaberi-Elahi Syndrome	Short nose, Depressed nasal bridge, Microcephaly, Hypoplasia of the corpus callosum, Globus palli...	OMIM:617988
Plaa-Associated Neurodevelopmental Disorder	Leukoencephalopathy, High palate, Long philtrum, Abnormal cortical gyration, Micrognathia, Short ...	ORPHA:521426
Thakker-Donnai Syndrome	Anal atresia, Tracheoesophageal fistula, Downturned corners of mouth, Narrow mouth, Anteverted na...	ORPHA:1780
X-Linked Intellectual Disability, Snyder Type	Cerebral edema, Mandibular prognathia, High palate, Thick lower lip vermilion, Dental crowding, S...	ORPHA:3063
Lethal Congenital Contracture Syndrome 1	Micrognathia, Neonatal death, Widening of cervical spinal canal, Arthrogryposis multiplex congenita	OMIM:253310
Neu-Laxova Syndrome 2	High palate, Depressed nasal ridge, Cerebellar hypoplasia, Micrognathia, Lissencephaly, Microceph...	OMIM:616038
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, High palate, Narrow palate, Wide mouth, Deep philtrum, Short nose, Anteverte...	OMIM:227330
Nail-Patella Syndrome	Hypoplasia of first ribs, Cleft upper lip, Patellar hypoplasia, Patellar dislocation, Patellar ap...	OMIM:161200
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hip subluxation, Progressive calcification of costochondral cartilage, Micrognathia, Elbow flexio...	OMIM:271665
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Lower-limb joint contracture, Everted upper lip vermilion, Widely spaced teeth, Micrognathia, Pro...	ORPHA:513456
Partial Androgen Insensitivity Syndrome	Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m...	ORPHA:90797
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Deep philtrum, Short nose, Depressed nasal bridge, Anteverted nares	OMIM:613320
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Thick upper lip vermilion, Long philtrum, Wide mouth, Wide nasal bridge, Thick lower lip vermilio...	ORPHA:163654
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Prominent nose, Long philtrum, Wide nasal bridge, Wide mouth, Biparietal narrowing, Microcephaly,...	ORPHA:1292
Turnpenny-Fry Syndrome	Dental malocclusion, Mandibular prognathia, High palate, Cavum septum pellucidum, Widely spaced t...	OMIM:618371
Metaphyseal Acroscyphodysplasia	Short toe, Short metacarpal, Wide nasal bridge, Hypoplasia of the odontoid process, Short finger,...	OMIM:250215
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Convex nasal ridge, Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hy...	OMIM:617604
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Congenital Disorder Of Glycosylation, Type Iiw	Underdeveloped nasal alae, Wide nose, Ankyloglossia, Micrognathia, Supernumerary tooth, Bilateral...	OMIM:619525
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Micrognathia, Optic nerve hypoplasia, Thin upper lip vermilion, Downturned corners of mouth, Narr...	OMIM:620029
Prolidase Deficiency	Depressed nasal ridge, Micrognathia, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Ca...	ORPHA:742
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of...	ORPHA:65681
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cleft upper lip, Encephalocele, Death in infancy, Macroglossia, Scoliosis, Cleft palate, Congenit...	OMIM:613150
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Long philtrum, Micrognathia, Bulbous nose, Short nose, Depressed nasal bridge, Narrow mouth, Micr...	ORPHA:508533
Microphthalmia, Syndromic 1	Cleft upper lip, Tooth malposition, High palate, Agenesis of maxillary lateral incisor, High, nar...	OMIM:309800
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Wide nose, Everted upper lip vermilion, Wide mouth, Widely spaced teeth, Macrocephaly, Anteverted...	OMIM:619056
Addison Disease	Generalized bone demineralization, Hyperuricemia, Hyperkalemia, Increased circulating renin level...	ORPHA:85138
Microcephaly 30, Primary, Autosomal Recessive	Choanal stenosis, Pierre-Robin sequence, Cleft soft palate, Thin upper lip vermilion, Increased n...	OMIM:620183
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Underdeveloped nasal alae, High palate, Wide mouth, Cerebellar hypoplasia, Micrognathia, Short ph...	OMIM:300986
Schuurs-Hoeijmakers Syndrome	Wide mouth, Cerebellar hypoplasia, Volvulus, Diastema, Thin upper lip vermilion, Downturned corne...	OMIM:615009
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Widely spaced teeth, Microdontia, Microcephaly, Cryptorchidism, Cleft palate, Hypoplasia of teeth	ORPHA:2728
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormality of the neck, Cleft upper lip, Tetraamelia, Abnormality of the dentition	OMIM:273400
Dermotrichic Syndrome	Aganglionic megacolon, Depressed nasal bridge, Short nose	ORPHA:99688
X-Linked Agammaglobulinemia	Osteomyelitis, Arthritis, Sinusitis, Hypocalcemia, Glossoptosis	ORPHA:47
Dent Disease 1	Thin bony cortex, Recurrent fractures, Osteomalacia, Hypophosphatemia, Sparse bone trabeculae, Ri...	OMIM:300009
Kilquist Syndrome	Midgut malrotation, Mandibular prognathia, Wide mouth, Intestinal malrotation, Xerostomia, Hypopl...	OMIM:619080
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
3M Syndrome	Long philtrum, Delayed eruption of teeth, Hypoplasia of the ulna, Everted lower lip vermilion, An...	ORPHA:2616
Meckel Syndrome, Type 5	Cleft palate, Cleft upper lip, Anencephaly, Occipital encephalocele	OMIM:611561
Pyruvate Dehydrogenase E1-Alpha Deficiency	Basal ganglia gliosis, Basal ganglia necrosis, Periventricular leukomalacia, Limb undergrowth, Ba...	ORPHA:79243
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Familial Adenomatous Polyposis 1	Duodenal polyposis, Eruption failure, Odontoma, Duodenal adenocarcinoma, Multiple gastric polyps,...	OMIM:175100
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Dental malocclusion, Camptodactyly of finger, Protrusio acetabuli, High palate, Int...	ORPHA:284984
Maternal Uniparental Disomy Of Chromosome 6	Cleft palate, Cleft upper lip, Miscarriage	ORPHA:96181
Witteveen-Kolk Syndrome	Wide nasal bridge, Smooth philtrum, Contracture of the distal interphalangeal joint of the 4th fi...	OMIM:613406
Pseudohypoparathyroidism Type 1C	Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Ectopic ossification, Delayed eruption...	ORPHA:79444
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Long philtrum, Short ribs, Hypoplasia of the radius, Relative macrocephaly, Depressed nasal bridg...	OMIM:617895
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Absent tibia, Depressed nasal bridge, Stillbirth, Hypoplasia of the corpus c...	OMIM:119800
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Retrognathia, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Wide mouth, S...	ORPHA:1194
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Pierre-Robin sequence, Micrognathia, Microdontia, Relative macrocephaly, Downturned corners of mo...	ORPHA:96182
Genitopatellar Syndrome	Wide nose, Prominent nose, Long philtrum, Patellar aplasia, Delayed eruption of teeth, Micrognath...	ORPHA:85201
Trisomy 10P	Retrognathia, High palate, Primary microcephaly, Simplified gyral pattern, Micrognathia, Abnormal...	ORPHA:171929
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Narrow mouth	ORPHA:436174
Seckel Syndrome	Convex nasal ridge, Micrognathia, Tooth agenesis, Scoliosis, Joint hyperflexibility, Craniosynost...	ORPHA:808
Ameloonychohypohidrotic Syndrome	Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis...	OMIM:104570
Fanconi Anemia, Complementation Group P	Absent thumb, Hypoplasia of the radius, Micrognathia, Bulbous nose, Microcephaly, Cryptorchidism,...	OMIM:613951
Gracile Bone Dysplasia	Ankyloglossia, Hypocalcemia, Decreased skull ossification	OMIM:602361
Acromesomelic Dysplasia, Grebe Type	Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar...	ORPHA:2098
Noonan Syndrome 13	High palate, Long philtrum, Wide mouth, Widely spaced teeth, Wide nasal bridge, Micrognathia, Mic...	OMIM:619087
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short ribs, Hypodontia, Aplasia of the epiglottis, Supernumerary tooth, Median cleft lip, Depress...	OMIM:617088
Takenouchi-Kosaki Syndrome	Dental malocclusion, Abnormal periventricular white matter morphology, Cerebral cortical atrophy,...	OMIM:616737
Neurodegeneration With Brain Iron Accumulation 2A	Micrognathia, Cerebral atrophy, Short nose	OMIM:256600
Focal Dermal Hypoplasia	Short 4th metacarpal, Delayed eruption of teeth, Spina bifida occulta, Cleft palate, Short ribs, ...	OMIM:305600
Oncogenic Osteomalacia	Increased susceptibility to fractures, Hypophosphatemia, Hypocalcemia, Pathologic fracture, Fibro...	ORPHA:352540
Progressive Non-Infectious Anterior Vertebral Fusion	Wide mouth, Kyphosis, Wide nasal bridge, Micrognathia, Short philtrum, Joint stiffness, Depressed...	ORPHA:2062
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Retrognathia, Underdeveloped nasal alae, Prominent nose, Wide nasal bridge, Microdontia, Tooth ag...	ORPHA:2637
Donnai-Barrow Syndrome	Aplasia/Hypoplasia of the corpus callosum, Macrocephaly, Short nose, Intestinal malrotation, Depr...	OMIM:222448
Distal Monosomy 10Q	High palate, Prominent nose, Wide nasal bridge, Cerebellar hypoplasia, Micrognathia, Inferior cer...	ORPHA:96148
Kleefstra Syndrome Due To 9Q34 Microdeletion	Cerebral cortical atrophy, Subcortical cerebral atrophy, Macroglossia, Short nose, Everted lower ...	ORPHA:96147
Igg4-Related Submandibular Gland Disease	Sialadenitis, Abnormality of the submandibular glands, Abnormal salivary gland morphology, Xerost...	ORPHA:449432
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome	Short philtrum, High palate, Macroglossia, Wide mouth	ORPHA:280384
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Generalized lymphadenopathy, Absent tonsils, Lymph node hypoplasia, Aplasia of th...	OMIM:602450
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism...	OMIM:614841
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	High palate, Calcinosis, Micrognathia, Hypokalemia, Osteopenia, Hyponatremia, Hypocalcemia	OMIM:617913
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Scoliosis, Tongue atrophy	OMIM:616155
8P Inverted Duplication/Deletion Syndrome	Retrognathia, Long philtrum, Wide mouth, Wide nasal bridge, Cerebellar hypoplasia, Micrognathia, ...	ORPHA:96092
Coffin-Siris Syndrome	Wide mouth, Delayed eruption of teeth, Thick lower lip vermilion, Simplified gyral pattern, Agene...	ORPHA:1465
Charge Syndrome	Cleft upper lip, Delayed eruption of teeth, Abnormal soft palate morphology, Tracheoesophageal fi...	ORPHA:138
Arboleda-Tham Syndrome	Genu varum, Genu valgum, Mandibular prognathia, Webbed neck, Wide mouth, Prominent nasal bridge, ...	OMIM:616268
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Joint dislocation, Flexion contracture, Recurrent fractures, Wide nasal bridge, Micrognathia, Bif...	OMIM:130070
Coffin-Siris Syndrome 4	Wide nose, Everted upper lip vermilion, Long philtrum, Wide mouth, Thick lower lip vermilion, Wid...	OMIM:614609
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enamel hypoplasia, Wide mouth, Bifid uvula, Cerebellar vermis hypoplasia, Depressed nasal bridge,...	OMIM:615802
Acromelic Frontonasal Dysostosis	Short tibia, Cleft upper lip, Encephalocele, Patellar hypoplasia, Wide nasal bridge, Bifid nose, ...	OMIM:603671
Osteogenesis Imperfecta, Type Xvi	Mesomelia, Tooth agenesis, Rhizomelia, Microretrognathia	OMIM:616229
Image Syndrome	Depressed nasal bridge, Micromelia, Cryptorchidism	ORPHA:85173
Ritscher-Schinzel Syndrome 2	Cerebellar hypoplasia, Macrocephaly, Short philtrum, Protruding tongue, Cryptorchidism, Short dis...	OMIM:300963
C Syndrome	Aplasia/Hypoplasia of the corpus callosum, High palate, Abnormality of the anus, Long philtrum, D...	ORPHA:1308
Microphthalmia, Syndromic 2	Dental malocclusion, Flexion contracture, Long philtrum, Delayed eruption of teeth, Oligodontia, ...	OMIM:300166
Martin-Probst Syndrome	Dental malocclusion, Wide mouth, Wide nasal bridge, Thick lower lip vermilion, Micrognathia, Micr...	OMIM:300519
Acute Adrenal Insufficiency	Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hyponatremia	ORPHA:95409
Gapo Syndrome	Delayed cranial suture closure, Eruption failure, Delayed closure of the anterior fontanelle, Lon...	OMIM:230740
Tarp Syndrome	Short sternum, Hypoplasia of proximal radius, Pierre-Robin sequence, Wide nasal bridge, Tongue no...	ORPHA:2886
Developmental And Epileptic Encephalopathy 100	Enamel hypoplasia, Bilateral camptodactyly, High palate, Small hand, Microdontia, Micrognathia, E...	OMIM:619777
Opitz Gbbb Syndrome	High palate, Long philtrum, Ectopic anus, Natal tooth, Wide nasal bridge, Hypodontia, Ankylogloss...	ORPHA:2745
Neurodevelopmental Disorder With Spasticity And Poor Growth	Reduced cerebral white matter volume, Prominent nose, Cerebellar hypoplasia, Secondary microcepha...	OMIM:618076
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Narrow mouth, High palate, Microretrognathia	OMIM:616866
19Q13.11 Microdeletion Syndrome	Retrognathia, Underdeveloped nasal alae, Wide mouth, Broad columella, Solitary median maxillary c...	ORPHA:217346
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Depressed nasal ridge, Macrocephaly, Distal shortening of limbs, Sh...	OMIM:300863
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Macrocephaly, Limb undergrowth, Shortening of all metacarpals, Mesomelia	OMIM:601356
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	High palate, Micrognathia, Thin upper lip vermilion, Hypoproteinemia, Alveolar ridge overgrowth, ...	OMIM:235255
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hypoplasia of the zygomatic bone, Thin vermilion border, Long philtrum, Micromelia	OMIM:614800
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Leukoencephalopathy, Long philtrum, Cerebral calcification, Narrow mouth, Microcephaly	OMIM:619147
Frontometaphyseal Dysplasia	Camptodactyly of finger, Wrist flexion contracture, Wide nasal bridge, Micrognathia, Elbow flexio...	ORPHA:1826
Van Esch-O'Driscoll Syndrome	Retrognathia, Wide mouth, Esophageal atresia, Bifid uvula, Short nose, Tracheoesophageal fistula,...	OMIM:301030
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Reduced cerebral white matter volume, Long philtrum, Wide mouth, Thick lower lip vermilion, Thin ...	OMIM:620075
Marden-Walker Syndrome	Retrognathia, Camptodactyly of finger, Kyphosis, Micrognathia, Pyloric stenosis, Bifid uvula, Sub...	ORPHA:2461
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Microcephaly, Cleft lip, Cryptorchidism, Cleft palate, Cerebellar vermis hypoplasia	OMIM:619123
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	High palate, Long philtrum, Wide anterior fontanel, Pyloric stenosis, Submucous cleft hard palate...	ORPHA:457279
Menke-Hennekam Syndrome 2	Duodenal ulcer, Deep philtrum, Micrognathia, Agenesis of permanent teeth, Joint hypermobility, Th...	OMIM:618333
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy	OMIM:158900
Isolated Arrhinia	Underdeveloped nasal alae, Aplasia of the nose, Absent nasal septal cartilage, Midline defect of ...	ORPHA:1134
Gm1-Gangliosidosis, Type Ii	Thin bony cortex, Hypoplastic vertebral bodies, Protruding tongue, Narrow mouth, Scoliosis, Limb ...	OMIM:230600
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Retrognathia, Neoplasm of the tongue, Camptodactyly of finger, Prominent nose, Micrognathia, Bifi...	ORPHA:3047
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Thick upper lip vermilion, Delayed cranial suture closure, Knee flexion contracture, High palate,...	OMIM:210730
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose	OMIM:618618
Primrose Syndrome	Flexion contracture, Wide nasal bridge, Torus palatinus, Generalized osteoporosis, Posterior scal...	OMIM:259050
Restrictive Dermopathy	Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Webbed neck, Multiple joint contr...	ORPHA:1662
Craniofacial Microsomia	Transverse facial cleft, Cleft upper lip, Genu valgum, Branchial anomaly, Wide mouth, Vertebral h...	OMIM:164210
Molybdenum Cofactor Deficiency, Complementation Group B	Long philtrum, Thin corpus callosum, Macrocephaly, Diffuse cerebral atrophy, Short nose, Microcep...	OMIM:252160
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Non-midline cleft lip, Lip pit, Cleft palate	ORPHA:1072
Osteopetrosis, Autosomal Recessive 5	Long philtrum, Micrognathia, Increased bone mineral density, Hyperbilirubinemia, Decreased osteoc...	OMIM:259720
9Q33.3Q34.11 Microdeletion Syndrome	Wide nose, Abnormal periventricular white matter morphology, Tented philtrum, Epistaxis, Narrow m...	ORPHA:495818
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Hydrolethalus Syndrome 1	Upper limb undergrowth, Broad neck, Micrognathia, Arrhinencephaly, Anencephaly, Bifid nose, Media...	OMIM:236680
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Transient hypophosphatemia, Increased bone mineral density, Thickened cortex o...	OMIM:127000
Ferguson-Bonni Neurodevelopmental Syndrome	Micrognathia, High palate	OMIM:619699
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Narrow palate, Long philtrum, Thick lower lip vermilion, Micrognathia, Joint hypermobility, Scoli...	ORPHA:555877
Fibrochondrogenesis	Cleft palate, Depressed nasal bridge, Narrow mouth, Anteverted nares	ORPHA:2021
Achard Syndrome	Micrognathia, Broad skull	OMIM:100700
Tenorio Syndrome	Wide nose, Recurrent aphthous stomatitis, Mandibular prognathia, Cerebral cortical atrophy, Wide ...	OMIM:616260
Gardner Syndrome	Duodenal polyposis, Odontoma, Multiple gastric polyps, Supernumerary tooth, Colon cancer, Multipl...	ORPHA:79665
Omodysplasia 1	Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Wide nasal br...	OMIM:258315
Atelosteogenesis Type Iii	Short tibia, High palate, Patellar dislocation, Abnormal cervical curvature, Vertebral hypoplasia...	ORPHA:56305
Intellectual Developmental Disorder, Autosomal Dominant 57	High palate, Thin upper lip vermilion, Narrow mouth, Broad nasal tip, Microcephaly, Prominent nas...	OMIM:618050
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Bulbous nose, Prominent nasal bridge, Short nose	OMIM:613870
Acrocapitofemoral Dysplasia	Short tibia, Short femoral neck, Short metacarpal, Short ribs, Hypoplasia of the radius, Small fi...	OMIM:607778
8Q24.3 Microdeletion Syndrome	Short 5th finger, Cleft maxillary alveolar ridge, Wide nasal bridge, Short femur, Spina bifida oc...	ORPHA:508488
Ablepharon Macrostomia Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Wide mouth, Microdontia, Hypoplasia of the ma...	ORPHA:920
Yunis-Varon Syndrome	Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Microgn...	ORPHA:3472
Disorder Of Bile Acid Synthesis	Rickets, Fat malabsorption	ORPHA:79168
Okur-Chung Neurodevelopmental Syndrome	High palate, Wide nasal bridge, Micrognathia, Joint hypermobility, Thin upper lip vermilion, Prot...	OMIM:617062
Leri-Weill Dyschondrosteosis	Short tibia, Short toe, High palate, Short 4th metacarpal, Hypoplasia of the radius, Hypoplasia o...	OMIM:127300
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mandibular prognathia, Rhizomelia, Relative macrocephaly, Bulbous nose, Short nose, Depressed nas...	OMIM:271510
Distal Monosomy 6P	Underdeveloped nasal alae, Wide nose, Short foot, Micrognathia, Short philtrum, Downturned corner...	ORPHA:96125
3Q29 Microduplication Syndrome	High palate, Wide nasal bridge, Deep philtrum, Ectopic anus, Biparietal narrowing, Macrocephaly, ...	ORPHA:251038
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Knee flexion contracture, Hip contracture, Small hand, Ankyloglossia, Joint laxity, Microretrogna...	ORPHA:488642
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Porencephalic cyst, Short nose, Downturned corners of mouth, Anteverted nares, Malar flattening, ...	OMIM:612394
Autosomal Recessive Spastic Paraplegia Type 18	High palate, Wide mouth, Short philtrum, Macroglossia, Hypoplasia of the corpus callosum	ORPHA:209951
Cutis Laxa, Autosomal Recessive, Type Iiia	Narrow mouth, Narrow nasal ridge	OMIM:219150
De Barsy Syndrome	High palate, Delayed eruption of teeth, Prominent nasolabial fold, Progressive microcephaly, Narr...	ORPHA:2962
Mosaic Trisomy 20	Retrognathia, Vertebral fusion, Long neck, Kyphosis, Craniofacial asymmetry, Micrognathia, Fused ...	ORPHA:1724
Dubowitz Syndrome	High palate, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, Velopharyngeal insuffici...	OMIM:223370
Acrocardiofacial Syndrome	Camptodactyly of finger, Cleft upper lip, Joint dislocation, Wide nasal bridge, Death in infancy,...	ORPHA:2008
Lacrimoauriculodentodigital Syndrome 1	Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the radius, Microdontia, Abse...	OMIM:149730
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Rhizomelia, Short ribs, Macrocephaly, Depressed nasal bridge, Limb undergrowth, Stillbirth, Micro...	OMIM:151210
Fraser Syndrome 2	Underdeveloped nasal alae, Narrow mouth	OMIM:617666
Intellectual Developmental Disorder, Autosomal Dominant 29	Wide nose, Narrow palate, High palate, Long philtrum, Ankyloglossia, Thin upper lip vermilion, Na...	OMIM:616078
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	High palate, Kyphosis, Micrognathia, Short philtrum, Malar flattening, Prominent nasal bridge	OMIM:609944
Bazex Syndrome	Furrowed tongue, Low hanging columella, Narrow nasal ridge, Underdeveloped nasal alae	OMIM:301845
Simpson-Golabi-Behmel Syndrome, Type 1	Wide nasal bridge, Exaggerated median tongue furrow, Six lumbar vertebrae, Cleft palate, Short pa...	OMIM:312870
Cardiofaciocutaneous Syndrome	Genu valgum, High palate, Long philtrum, Webbed neck, Submucous cleft hard palate, Short nose, De...	ORPHA:1340
Acrodysostosis With Multiple Hormone Resistance	Short toe, Mandibular prognathia, Short metacarpal, Absent/hypoplastic paranasal sinuses, Narrow ...	ORPHA:280651
Mucopolysaccharidosis Type 4	Wide mouth, Grayish enamel, Macrocephaly, Abnormal dental enamel morphology, Anteverted nares, Ca...	ORPHA:582
Hypercholanemia, Familial 1	Rickets, Fat malabsorption, Steatorrhea	OMIM:607748
Holoprosencephaly 4	Absent nasal septal cartilage, Median cleft lip and palate, Median cleft lip, Depressed nasal bri...	OMIM:142946
Achondrogenesis Type 2	Pierre-Robin sequence, Micromelia, Short ribs	ORPHA:93296
Osteopetrosis With Renal Tubular Acidosis	Retrognathia, Tooth malposition, Prominence of the zygomatic bone, High palate, Recurrent fractur...	ORPHA:2785
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Underdeveloped nasal alae, High palate, Micrognathia, Short nose, Low insertion of columella, Dep...	OMIM:619005
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Calvarial osteosclerosis, Cortical thickening of long bon...	ORPHA:93325
Noonan Syndrome 5	Mandibular prognathia, Wide mouth, Macrocephaly, Depressed nasal bridge, Thick vermilion border	OMIM:611553
Dend Syndrome	Downturned corners of mouth, Long philtrum, Anteverted nares, Short nose	ORPHA:79134
Peters Plus Syndrome	Micrognathia, Spina bifida occulta, Short neck, Cleft palate, Short toe, Short nose, Micromelia, ...	ORPHA:709
Astley-Kendall Dysplasia	Micromelia	ORPHA:85175
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Halperin-Birk Syndrome	Flexion contracture, High palate, Micrognathia, Hip dislocation, Death in childhood, Umbilical he...	OMIM:618651
Rabson-Mendenhall Syndrome	Wide nose, Mandibular prognathia, High palate, Prominent nasal bridge, Advanced eruption of teeth...	ORPHA:769
Hereditary Acrokeratotic Poikiloderma	Gingivitis, Abnormal pigmentation of the oral mucosa, Premature loss of primary teeth, Ankyloglos...	ORPHA:2907
Axenfeld-Rieger Syndrome, Type 1	Wide nasal bridge, Hypodontia, Microdontia, Oligodontia, Short philtrum, Anal atresia, Hypoplasia...	OMIM:180500
Pseudohypoparathyroidism Type 1A	Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Ectopic ossification, Delayed eruption...	ORPHA:79443
Naxos Disease	Cleft upper lip	ORPHA:34217
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Micrognathia, Hip di...	OMIM:271640
H Syndrome	Cleft upper lip, Recurrent fractures, Malabsorption, Recurrent pharyngitis, Camptodactyly, Chroni...	ORPHA:168569
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Wide mouth, Bulbous nose, Macroglossia, Everted lower lip vermilion, Depressed nasal bridge, Open...	OMIM:616789
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Wide mouth, Thick vermilion border, Bifid uvula, Depressed nasal bridge, P...	OMIM:618505
Trichorhinophalangeal Syndrome, Type Ii	Hip subluxation, Thoracolumbar scoliosis, Mandibular prognathia, Prominent nose, Lumbar scoliosis...	OMIM:150230
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Microcephaly, Short humerus, Aplasia/Hypoplasia of the ulna, Micromelia	ORPHA:2491
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Hypotonia-Cystinuria Syndrome	Tented upper lip vermilion, Hypocalcemia	OMIM:606407
Oligomeganephronia	Branchial cyst, Micrognathia	ORPHA:2260
Metaphyseal Anadysplasia 2	Short femoral neck, Micromelia	OMIM:613073
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Long philtrum, Short humerus, Phocomelia, Short 2nd metacarpal, ...	OMIM:171480
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Wide mouth, Macrocephaly, Megalencephaly, Periventricular white matter hyperintensities, Tented u...	ORPHA:500533
Coffin-Lowry Syndrome	Wide nose, Dental malocclusion, Mandibular prognathia, Narrow palate, High palate, Widely spaced ...	OMIM:303600
Barber-Say Syndrome	Wide nasal bridge, Wide mouth, Delayed eruption of teeth, Anteverted nares, Bulbous nose	ORPHA:1231
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom...	OMIM:618278
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Dental malocclusion, Joint contracture of the hand, Micrognathia, Camptodactyly, Malar flattening	OMIM:608257
Laron Syndrome	Limb undergrowth	OMIM:262500
Meckel Syndrome, Type 9	Limb undergrowth	OMIM:614209
Diarrhea 10, Protein-Losing Enteropathy Type	Micrognathia, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Lathosterolosis	Thick upper lip vermilion, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Short nos...	OMIM:607330
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Aplasia/Hypoplasia of the cerebellum, Microcephaly, Micromelia, Cryptorchidism	ORPHA:2772
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Wide mouth, Cerebellar hypoplasia, Diastema, Thin upper lip vermilion, Downturned corners of mout...	ORPHA:329224
Geleophysic Dysplasia 3	Long philtrum, Wide nasal bridge, Depressed nasal bridge, Limb undergrowth, Anteverted nares, Bul...	OMIM:617809
Cronkhite-Canada Syndrome	Stomach cancer, Malabsorption, Macrocephaly, Intestinal polyposis, Colon cancer, Hypogeusia, Furr...	ORPHA:2930
Ring Chromosome 22 Syndrome	Wide nasal base, Protruding tongue, Absent septum pellucidum, Microcephaly, Bulbous nose, Agenesi...	ORPHA:1446
Mandibuloacral Dysplasia Progeroid Syndrome	Osteolytic defects of the phalanges of the hand, Delayed cranial suture closure, Genu valgum, Und...	OMIM:619127
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Micromelia	ORPHA:168555
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Fontaine Progeroid Syndrome	Convex nasal ridge, Micrognathia, Microdontia, Everted lower lip vermilion, Smooth philtrum, Shor...	OMIM:612289
Isolated Exencephaly	Aplasia/Hypoplasia of the cerebellum, Hypoplasia of the frontal bone, Anterior pituitary hypoplas...	ORPHA:563612
Craniofacioskeletal Syndrome	Absent gallbladder, Short foot, Hypoplastic frontal sinuses, Small hand, Cerebellar hypoplasia, M...	OMIM:300712
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia, Glossitis	OMIM:175500
Williams Syndrome	Abnormal circulating lipid concentration, Micrognathia, Increased bone mineral density, Microdont...	ORPHA:904
Distal Monosomy 3P	High palate, Long philtrum, Micrognathia, Downturned corners of mouth, Thin vermilion border, Ant...	ORPHA:1620
Deeah Syndrome	Retrognathia, Narrow palate, Long philtrum, High palate, Malabsorption, Prominent nasal tip, Shor...	OMIM:619004
Bencze Syndrome	Submucous cleft hard palate, Open bite	ORPHA:1241
15q26 overgrowth syndrome	Camptodactyly of finger, Mandibular prognathia, High palate, Long philtrum, Wide nasal bridge, Pr...	DECIPHER:81
Chromosome 6Q24-Q25 Deletion Syndrome	High palate, Long philtrum, Small hand, Submucous cleft hard palate, Thin upper lip vermilion, An...	OMIM:612863
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth	ORPHA:156728
Distal Monosomy 15Q	Genu valgum, Bifid tongue, Small hand, Generalized joint laxity, Micrognathia, Short finger, Shor...	ORPHA:1596
Tooth Agenesis, Selective, 4	Tooth agenesis, Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality o...	OMIM:150400
Spondyloepimetaphyseal Dysplasia, Shohat Type	Vertebral hypoplasia, Short femoral neck, Short ribs, Central vertebral hypoplasia, Limb undergro...	OMIM:602557
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis...	OMIM:614837
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Mesomelia-Synostoses Syndrome	Convex nasal ridge, Tarsometatarsal synostosis, Micrognathia, Short umbilical cord, Carpometacarp...	OMIM:600383
Myopathy, Myofibrillar, 7	Flexion contracture, Multiple joint contractures, Tongue atrophy, Thoracic kyphosis, Elbow flexio...	OMIM:617114
1Q41Q42 Microdeletion Syndrome	Underdeveloped nasal alae, Submucous cleft hard palate, Depressed nasal bridge, Broad nasal tip, ...	ORPHA:250999
Fg Syndrome Type 1	Aplasia/Hypoplasia of the corpus callosum, High palate, Long philtrum, Wide mouth, Prominent nose...	ORPHA:93932
Pheochromocytoma	Hypercalcemia	OMIM:171300
Ritscher-Schinzel Syndrome 4	High palate, Narrow palate, Wide mouth, Wide nasal bridge, Cerebellar hypoplasia, Agenesis of cor...	OMIM:619435
Occipital Horn Syndrome	Delayed cranial suture closure, Hip dislocation, Abnormality of the wrist, Osteolysis, Short palm...	ORPHA:198
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Retrognathia, Widely spaced teeth, Dental crowding, Short philtrum, Short nose, Solitary median m...	OMIM:301044
Fetal Akinesia Deformation Sequence 1	High palate, Long philtrum, Cerebellar hypoplasia, Micrognathia, Narrow mouth, Stillbirth, Depres...	OMIM:208150
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Cerebral cortical atrophy, High palate, Long philtrum, Cerebellar hypoplasia, Thick lower lip ver...	OMIM:614756
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614129
Aymé-Gripp Syndrome	Cerebral cortical atrophy, Long philtrum, Oligodontia, Short nose, Thin upper lip vermilion, Depr...	ORPHA:1272
Dyschondrosteosis-Nephritis Syndrome	Microdontia, Aplasia/Hypoplasia of the radius, Micromelia	ORPHA:1765
Maternal Phenylketonuria	High palate, Long philtrum, Wide nasal bridge, Esophageal atresia, Micrognathia, Microcephaly, An...	ORPHA:2209
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Long philtrum, Wide mouth, Lactose intolerance, Macrocephaly, Depressed nasal bridge, Abnormal co...	ORPHA:457485
Richieri Costa-Da Silva Syndrome	Narrow mouth, Abnormality of the dentition	ORPHA:3101
Warburg Micro Syndrome 2	Global brain atrophy, Short nose, Secondary microcephaly, Microcephaly, Hypoplasia of the corpus ...	OMIM:614225
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Abnormal nostril morphology, Branchial anomaly, Wide nasal bridge, Wide mouth, Thin upper lip ver...	ORPHA:466950
Keppen-Lubinsky Syndrome	Underdeveloped nasal alae, Increased susceptibility to fractures, Flexion contracture, High palat...	ORPHA:435628
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Odontoma, Duodenal adenocarcinoma, Multiple gastric polyps, Supernumerary too...	ORPHA:247806
Spondyloenchondrodysplasia	Dental malocclusion, Abnormal periventricular white matter morphology, Decreased response to grow...	ORPHA:1855
Pfeiffer Syndrome Type 1	Depressed nasal bridge, High palate, Short nose	ORPHA:93258
Keppen-Lubinsky Syndrome	Underdeveloped nasal alae, Flexion contracture, High palate, Narrow naris, Micrognathia, Short ph...	OMIM:614098
Hepatocellular Carcinoma	Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia	ORPHA:88673
White-Kernohan Syndrome	Retrognathia, Underdeveloped nasal alae, Wide mouth, Short nose, Thin upper lip vermilion, Depres...	OMIM:619426
Metaphyseal Acroscyphodysplasia	Short toe, Depressed nasal ridge, Wide nasal bridge, Micromelia	ORPHA:1240
Acromesomelic Dysplasia 2C	Short tibia, Short foot, Hypoplasia of the radius, Cuboidal metacarpal, Hypoplasia of the ulna, S...	OMIM:201250
Diamond-Blackfan Anemia 21	Micrognathia, Narrow mouth, Microcephaly	OMIM:620072
Acrocapitofemoral Dysplasia	Macrocephaly, Short palm, Micromelia	ORPHA:63446
Vacterl/Vater Association	Non-midline cleft lip, Vertebral segmentation defect, Anencephaly, Anal atresia, Tracheoesophagea...	ORPHA:887
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Underdeveloped nasal alae, Choanal stenosis, Wide nasal bridge, Micrognathia, Pylor...	ORPHA:83617
Chromosome 16P13.3 Duplication Syndrome	Wide nose, Long philtrum, Wide mouth, Wide nasal bridge, Micrognathia, Microdontia, Bifid uvula, ...	OMIM:613458
Mosaic Trisomy 9	High palate, Micrognathia, Biparietal narrowing, Micromelia, Intestinal malrotation, Microcephaly...	ORPHA:99776
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia	ORPHA:99845
Mosaic Trisomy 1	Short upper lip, Wide mouth, Wide nasal bridge, Thick lower lip vermilion, Cerebellar hypoplasia,...	ORPHA:1692
Trichothiodystrophy 1, Photosensitive	Retrognathia, Malabsorption, Short nose, Intestinal obstruction, Microcephaly, Triangular mouth	OMIM:601675
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	High palate, Broad alveolar ridges, Micrognathia, Macrocephaly, Hypoplastic anterior commissure, ...	OMIM:616975
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Narrow palate, Long philtrum, Abnormal large intestine morphology, Micrognathia, Macro...	ORPHA:109
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Delayed eruption of teeth, Premature loss of primary teeth, Hypophosphatemia...	ORPHA:667
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Retrognathia, Short 5th toe, Underdeveloped nasal alae, Cleft soft palate, Kyphosis, Widely space...	ORPHA:268261
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Retrognathia, Dental malocclusion, Wide nose, Convex nasal ridge, High palate, Prominent nose, Bi...	OMIM:601552
Cholestasis, Progressive Familial Intrahepatic, 1	Rickets, Fat malabsorption, Epistaxis, Osteopenia	OMIM:211600
Al Amyloidosis	Xerostomia, Abnormal salivary gland morphology, Macroglossia	ORPHA:85443
Dent Disease	Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Elevated circulating...	ORPHA:1652
Short Stature, Microcephaly, And Endocrine Dysfunction	Convex nasal ridge, Simplified gyral pattern, Long nose, Limb undergrowth, Broad nasal tip, Micro...	OMIM:616541
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Cerebral cortical atrophy, Small hand, Wide mouth, Micrognathia, Macroceph...	ORPHA:85276
Isolated Childhood Apraxia Of Speech	Submucous cleft hard palate, High, narrow palate	ORPHA:209908
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Wide mouth, Depressed nasal bridge, Protruding tongue, Anteverted nares, Cerebral atrophy, Hypopl...	OMIM:618797
Al-Gazali Syndrome	Wrist flexion contracture, Recurrent fractures, Micrognathia, Osteopenia, Proximal radio-ulnar sy...	OMIM:609465
Lethal Congenital Contracture Syndrome 9	Micrognathia, Short umbilical cord, Ankylosis, Thin upper lip vermilion, Depressed nasal bridge, ...	OMIM:616503
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Cleft upper lip, Encephalocele, Anal atresia, Median cleft lip and palate, Hemi...	OMIM:264480
Floating-Harbor Syndrome	11 pairs of ribs, Wide mouth, Short metacarpal, Microdontia, Oligodontia, Short philtrum, Low han...	ORPHA:2044
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Familial Adenomatous Polyposis	Duodenal polyposis, Stomach cancer, Eruption failure, Adenocarcinoma of the small intestine, Colo...	ORPHA:733
Monosomy 18Q	Choanal stenosis, Mandibular prognathia, High palate, Prominent nose, Wide mouth, Cerebellar hypo...	ORPHA:1600
Renal Agenesis, Bilateral	Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Abnormal intestine morph...	ORPHA:1848
Aprosencephaly And Cerebellar Dysgenesis	Micrognathia, Bifid uvula, Craniosynostosis	OMIM:601374
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Absent thumb, Bifid uvula, Submucous cleft hard palate	OMIM:619239
Viss Syndrome	Bifid tongue, Cleft soft palate, Micrognathia, Bifid uvula, Hip dislocation, Butterfly vertebrae,...	OMIM:619472
Nicolaides-Baraitser Syndrome	Long philtrum, Wide mouth, Widely spaced teeth, Short lingual frenulum, Thick lower lip vermilion...	OMIM:601358
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Sagittal craniosynostosis, Absent thumb, Wide nasal bridge, Bifid uvula, Short philtrum, Metopic ...	ORPHA:500150
Pentalogy Of Cantrell	Non-midline cleft lip, Encephalocele, Anencephaly, Aplasia/Hypoplasia of the radius, Scoliosis, C...	ORPHA:1335
Charcot-Marie-Tooth Disease, Type 4C	Tongue fasciculations, Scoliosis, Tongue atrophy	OMIM:601596
Baller-Gerold Syndrome	Absent thumb, Aplasia of metacarpal bones, Micrognathia, Bifid uvula, Short humerus, Spina bifida...	OMIM:218600
Mietens Syndrome	Wide nose, Microcephaly, Wide nasal bridge, Short nose	ORPHA:2557
Schneckenbecken Dysplasia	Short ribs, Macrocephaly, Micromelia, Hypoplastic vertebral bodies, Cryptorchidism, Cleft palate,...	ORPHA:3144
Pfeiffer Syndrome Type 3	High palate, Anal atresia, Short nose, Intestinal malrotation, Depressed nasal bridge, Cleft pala...	ORPHA:93260
Camptodactyly Syndrome, Guadalajara Type 3	Retrognathia, Small hand, Distal shortening of limbs, Broad columella, Wide nasal base, Broad nas...	ORPHA:488434
Ring Chromosome 13 Syndrome	Aplasia/hypoplasia involving bones of the hand, Hypoplasia of the gallbladder, High palate, Abnor...	ORPHA:96176
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Enamel hypoplasia, Oral mucosal blisters, Smooth tongue	ORPHA:79396
Camptomelic Syndrome, Long-Limb Type	Micromelia	OMIM:211990
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	High palate, Micrognathia, Thin upper lip vermilion, Hypoproteinemia, Alveolar ridge overgrowth, ...	ORPHA:1655
Hypochondroplasia	Short toe, Macrocephaly, Micromelia	ORPHA:429
Cutis Laxa, Autosomal Recessive, Type Ic	Retrognathia, Long philtrum, Wide nasal bridge, Death in infancy, Micrognathia, Pyloric stenosis,...	OMIM:613177
Hutchinson-Gilford Progeria Syndrome	Convex nasal ridge, Narrow nasal tip, Delayed eruption of teeth, Short lingual frenulum, Microgna...	ORPHA:740
Spondylodysplastic Ehlers-Danlos Syndrome	Long philtrum, Micrognathia, Agenesis of pineal gland, Short nose, Optic nerve hypoplasia, Depres...	ORPHA:536471
Chromosome 15Q25 Deletion Syndrome	Cleft upper lip, Webbed neck, Tented upper lip vermilion, Short neck, Thin vermilion border, Clef...	OMIM:614294
Triopia	Cleft palate, Encephalocele, Median cleft lip	ORPHA:3374
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures	OMIM:612301
Lymphedema-Distichiasis Syndrome	Cleft palate, Cleft upper lip, Webbed neck	ORPHA:33001
Juvenile Polyposis Of Infancy	Rectal prolapse, Intussusception, Macrocephaly, Depressed nasal bridge, Narrow mouth, Intestinal ...	ORPHA:79076
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Glossitis, Macroglossia	ORPHA:2221
Meier-Gorlin Syndrome 7	High palate, Anal atresia, Duodenal stenosis, Anteriorly placed anus, Progressive microcephaly, N...	OMIM:617063
Branchiootic Syndrome 3	Branchial cyst, Commissural lip pit	OMIM:608389
Spondyloepimetaphyseal Dysplasia, X-Linked	Genu varum, Anterior wedging of T11, Short foot, Kyphosis, Short metacarpal, Hypoplasia of the od...	OMIM:300106
Ollier Disease	Multiple enchondromatosis, Abnormal cartilage morphology, Micromelia	ORPHA:296
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Retrognathia, High palate, Long philtrum, Wide nasal bridge, Narrow naris, Dental crowding, Short...	OMIM:617157
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Short ribs, Anencephaly, Cerebellar vermis hypoplasia, Depressed nasal bridge,...	OMIM:616546
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Death in childhood, Osteoporosis, Death in adolescence	OMIM:560000
Premature Ovarian Failure 6	Streak ovary, Hypoplasia of the uterus	OMIM:612310
Achondroplasia	Short nasal bridge, Rhizomelia, Macrocephaly, Short proximal phalanx of finger, Depressed nasal b...	ORPHA:15
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormality of dental morphology, Anoperineal fistula, Abnormal tongue morphology, Carious teeth,...	ORPHA:158668
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hip subluxation, Flexion contracture, Cleft soft palate, Delayed eruption of teeth, Micrognathia,...	OMIM:619503
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Neurofibroma	Macrocephaly, Multiple intestinal neurofibromatosis, Intestinal bleeding, Enlargement of parotid ...	ORPHA:252183
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, 11 pairs of ribs, Cleft upper lip, Delayed closure of the anterior fonta...	OMIM:607872
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc...	ORPHA:160
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental malocclusion, Talon cusp, Convex nasal ridge, Narrow palate, Natal tooth, Hypodontia, Supe...	ORPHA:353281
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619203
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Irregular dentition, Leukoencephalopathy, Wide mouth, Depressed nasal bridge, Cerebral atrophy, H...	OMIM:619260
Bacterial Toxic-Shock Syndrome	Septic arthritis, Osteomyelitis, Arthritis, Elevated circulating creatine kinase concentration, S...	ORPHA:36234
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hip subluxation, Cervical C2/C3 vertebral fusion, High palate, Long philtrum, Small hand, Microgn...	ORPHA:444077
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	High palate, Long philtrum, Abnormal duodenum morphology, Microretrognathia, Short nose, Intestin...	OMIM:601776
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Dental malocclusion, High palate, Aplasia of the nose, Anosmia, Cleft...	OMIM:603457
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Zimmermann-Laband Syndrome 1	Mandibular prognathia, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Wide na...	OMIM:135500
X-Linked Intellectual Disability, Cabezas Type	High palate, Prominent nose, Wide mouth, Thick lower lip vermilion, Biparietal narrowing, Short p...	ORPHA:85293
Molybdenum Cofactor Deficiency, Complementation Group A	Long philtrum, Macrocephaly, Short nose, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus...	OMIM:252150
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Enamel hypoplasia, Wrist swelling, Genu valgum, Kyphosis, Osteomalacia, ...	OMIM:309000
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Increased size of nasopharyngeal adenoids, Ossifying fibroma of the jaw, Thick vermilion border, ...	ORPHA:457395
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Short ribs, Median cleft lip, Intestinal malrotation, M...	OMIM:263520
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hyperlordosis, Flexion contracture, Macroglossia, Protruding tongue, Scoliosis, Abnormality of th...	ORPHA:258
Loeys-Dietz Syndrome	Camptodactyly of finger, Joint dislocation, High palate, Micrognathia, Bifid uvula, Scoliosis, Jo...	ORPHA:60030
Multiple Endocrine Neoplasia Type 2	Hypercalcemia, Abnormal tongue morphology, Joint laxity, Thick vermilion border	ORPHA:653
Short Rib-Polydactyly Syndrome	Short tibia, Disproportionate shortening of the tibia, Abnormal cerebral morphology, Short ribs, ...	ORPHA:1505
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hypomagnesemia, Hyperphosphatemia, Reduced bone mineral density	ORPHA:428
Campomelia, Cumming Type	Pancreatic cysts, Death in infancy, Abnormal intestine morphology, Micromelia, Cleft palate	ORPHA:1318
Paternal Uniparental Disomy Of Chromosome 6	Retrognathia, High palate, Prominent nose, Micrognathia, Macroglossia, Joint laxity, Gingival ove...	ORPHA:96191
Muir-Torre Syndrome	Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm, Adenoma sebaceum	ORPHA:587
Marbach-Schaaf Neurodevelopmental Syndrome	Torticollis, Submucous cleft hard palate, Thin upper lip vermilion, Downturned corners of mouth, ...	OMIM:619680
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Thick upper lip vermilion, Long philtrum, Wide mouth, Wide nasal bridge, Thick lower lip vermilio...	OMIM:611717
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Long philtrum, Cerebellar hypoplasia, Microretrognathia, Everted lower lip...	ORPHA:459070
Perlman Syndrome	Everted upper lip vermilion, Wide nasal bridge, Volvulus, Micrognathia, Agenesis of corpus callos...	OMIM:267000
3Mc Syndrome 3	Cleft palate, Cleft upper lip, Radioulnar synostosis	OMIM:248340
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stricture, Flexion contracture, Ankyloglossia, Esophageal stenosis, Anal fissure, Narr...	ORPHA:89842
Thoracomelic Dysplasia	Limb undergrowth, Short ribs	ORPHA:1803
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Coffin-Siris Syndrome 12	Delayed cranial suture closure, Hip subluxation, Underdeveloped nasal alae, High palate, Microgna...	OMIM:619325
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Wide nasal bridge, Thin corpus callosum, Bifid uvula, Narrow mouth, Broad nasal tip, Partial agen...	OMIM:619480
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Sialadenitis, Euthyroid goiter, Abnormality of the pituitary...	ORPHA:64744
Williams-Beuren Syndrome	Dental malocclusion, Flexion contracture, Long philtrum, Thick lower lip vermilion, Microdontia, ...	OMIM:194050
Chops Syndrome	Long philtrum, Short nose, Downturned corners of mouth, Microcephaly, Anteverted nares, High, nar...	OMIM:616368
Fibromuscular Dysplasia, Multifocal	High palate, Micrognathia, Shoulder subluxation, Joint hypermobility, Narrow nose, Scoliosis, Joi...	OMIM:619329
Colchicine Poisoning	Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo...	ORPHA:31824
Fountain Syndrome	Wide mouth, Thick lower lip vermilion, Macrocephaly, Craniofacial hyperostosis, Everted lower lip...	ORPHA:3219
Alg9-Cdg	Underdeveloped nasal alae, Convex nasal ridge, Long philtrum, Wide mouth, Villous atrophy, Microg...	ORPHA:79328
Trisomy 8P	Retrognathia, Malrotation of small bowel, Agenesis of corpus callosum, Bifid uvula, Short nose, D...	ORPHA:264450
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Wide nasal bridge, Micrognathia, Short neck, Short upper lip, Genu valgum, Macroglossia, Malar fl...	OMIM:309580
Meckel Syndrome	Pancreatic cysts, Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the corpus callosum, De...	ORPHA:564
Smith-Mccort Dysplasia 1	Short metacarpal, Hypoplasia of the odontoid process, Hypoplastic facial bones, Microcephaly, Hyp...	OMIM:607326
21Q22.11Q22.12 Microdeletion Syndrome	Thick lower lip vermilion, Thin upper lip vermilion, Downturned corners of mouth, Short proximal ...	ORPHA:261323
Congenital Disorder Of Glycosylation, Type Ig	Thin upper lip vermilion, Hypocalcemia, Short philtrum	OMIM:607143
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the radius, Micromelia, Mesomelia, Hypoplasia of the ulna	ORPHA:2249
Iniencephaly	Mandibular aplasia, Anencephaly, Anal atresia, Lissencephaly, Narrow mouth, Duodenal atresia, Dan...	ORPHA:63259
Otopalatodigital Syndrome, Type Ii	Delayed closure of the anterior fontanelle, Micrognathia, Elbow contracture, Short hallux, Short ...	OMIM:304120
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hypoplasia of the frontal lobes, Micrognathia, Short femur, Limb undergrowth, Polymicrogyria, Pro...	OMIM:210710
Menke-Hennekam Syndrome 1	Underdeveloped nasal alae, High palate, Everted upper lip vermilion, Long philtrum, Deep philtrum...	OMIM:618332
Pitt-Hopkins Syndrome	Overhanging nasal tip, Tooth malposition, Small cerebral cortex, Aplasia/Hypoplasia of the corpus...	ORPHA:2896
Jacobsen Syndrome	Micrognathia, Pyloric stenosis, Macrocephaly, Short nose, Depressed nasal bridge, Microcephaly, A...	OMIM:147791
22Q11.2 Deletion Syndrome	Long philtrum, Wide nasal bridge, Micrognathia, Aganglionic megacolon, Arrhinencephaly, Short phi...	ORPHA:567
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Igg4-Related Dacryoadenitis And Sialadenitis	Nodular goiter, Abnormality of the submandibular glands, Abnormal salivary gland morphology, Xero...	ORPHA:79078
Marfan Syndrome	Retrognathia, Meningocele, Protrusio acetabuli, Limited elbow movement, Kyphosis, Micrognathia, D...	ORPHA:558
Spondyloepiphyseal Dysplasia, Kimberley Type	Micromelia	ORPHA:93283
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Helsmoortel-Van Der Aa Syndrome	Wide nasal bridge, Microdontia, Everted lower lip vermilion, Smooth philtrum, Genu valgum, Short ...	OMIM:615873
Primary Intestinal Lymphangiectasia	Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia	ORPHA:90362
Limb-Mammary Syndrome	Hypodontia, Bifid uvula, Submucous cleft soft palate, Cleft lip, Cleft hard palate, Cleft palate,...	ORPHA:69085
Eisenmenger Syndrome	Hyperuricemia, Hypochromic microcytic anemia, Abnormal B-type natriuretic peptide concentration, ...	ORPHA:97214
Jansen-De Vries Syndrome	Thin upper lip vermilion, Anteverted nares, Wide mouth	OMIM:617450
Aica-Ribosuria Due To Atic Deficiency	Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Wide mouth	OMIM:608688
Femoral-Facial Syndrome	Hypoplastic acetabulae, Humeroradial synostosis, Aplasia/hypoplasia of the femur, Micrognathia, S...	OMIM:134780
Cranioectodermal Dysplasia 1	Enamel hypoplasia, Sagittal craniosynostosis, High palate, Widely spaced teeth, Microdontia, Hypo...	OMIM:218330
Noonan Syndrome 4	Dental malocclusion, Wide mouth, Macrocephaly, Depressed nasal bridge, Thick vermilion border	OMIM:610733
Trichohepatoenteric Syndrome 1	Wide nose, Long philtrum, Wide mouth, Depressed nasal ridge, Villous atrophy, Bifid uvula, Narrow...	OMIM:222470
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Aplasia/Hypoplasia of the cerebellum, Wide mouth, Macrocephaly, Depressed nasal bridge, Polymicro...	ORPHA:60040
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Kyphoscoliosis, Cleft soft palate, Umbilical hernia	OMIM:614557
Proboscis Lateralis	Abnormal paranasal sinus morphology, Single naris, High palate, Long philtrum, Abnormal ethmoid b...	ORPHA:141099
Femur-Fibula-Ulna Complex	Short humerus, Aplasia/Hypoplasia of the radius, Micromelia	ORPHA:2019
Pitt-Hopkins Syndrome	Deep philtrum, Wide mouth, Widely spaced teeth, Wide nasal bridge, Short philtrum, Secondary micr...	OMIM:610954
Aica-Ribosiduria	Thin upper lip vermilion, Wide mouth	ORPHA:250977
Cranioectodermal Dysplasia 2	Retrognathia, High palate, Rhizomelia, Wide nasal bridge, Widely spaced teeth, Short ribs, Microd...	OMIM:613610
Glucagonoma	Stomatitis, Hypercalcemia, Glossitis	ORPHA:97280
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Wide nasal bridge, Aplasia/hypoplasia of the femur, Micrognathia, Aplasia/Hypoplasia of the hallu...	OMIM:609945
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Depressed nasal ridge, Short ribs, Anteverted nares, Micromelia	ORPHA:1842
Boomerang Dysplasia	Aplasia/Hypoplasia of the fibula, Decreased response to growth hormone stimulation test, Micromel...	ORPHA:1263
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:619665
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Meckel Syndrome, Type 6	Cleft palate, Cleft upper lip, Anencephaly, Occipital encephalocele	OMIM:612284
Acromesomelic Dysplasia 4	Short toe, Mandibular prognathia, Rhizomelia, Short metacarpal, Wide nasal bridge, Short finger, ...	OMIM:619636
Multiple Endocrine Neoplasia Type 1	Increased susceptibility to fractures, Gingival fibromatosis, Osteolysis, Hypercalcemia, Reduced ...	ORPHA:652
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Dental malocclusion, Abnormal periventricular white matter morphology, Long philtrum, Wide mouth,...	ORPHA:487796
Wiedemann-Rautenstrauch Syndrome	Camptodactyly of finger, Convex nasal ridge, Hypoplastic vertebral bodies, Submucous cleft soft p...	ORPHA:3455
Buratti-Harel Syndrome	High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate	OMIM:619314
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ...	ORPHA:26793
Galloway-Mowat Syndrome 1	Hypoplasia of the brainstem, High palate, Narrow nasal ridge, Wide mouth, Prominent nose, Microgn...	OMIM:251300
Wiedemann-Rautenstrauch Syndrome	Convex nasal ridge, Long philtrum, Natal tooth, Delayed eruption of teeth, Narrow nasal ridge, Mi...	OMIM:264090
Benign Schwannoma	Nasal polyposis, Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid gland morp...	ORPHA:252164
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Short middle phalanx of the 5th finger, Limb undergrowth, Microcephaly, Bilateral...	ORPHA:319675
Specc1L-Related Hypertelorism Syndrome	Long philtrum, Wide nasal bridge, Advanced eruption of teeth, Short nose, Everted lower lip vermi...	ORPHA:1519
Ulbright-Hodes Syndrome	Short sternum, Convex nasal ridge, High palate, Short metacarpal, Short ribs, Hypoplasia of the r...	ORPHA:3404
Spondyloepimetaphyseal Dysplasia, Irapa Type	Upper limb undergrowth, Short metacarpal, Micromelia, Short metatarsal, Short palm	ORPHA:93351
Charge Syndrome	Micrognathia, Cleft palate, Choanal atresia, Radial head subluxation, Esophageal atresia, Absent ...	OMIM:214800
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Jejunal atresia, Long philtrum, Micrognathia, Macrocephaly, Short nose...	OMIM:618820
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental malocclusion, Talon cusp, Convex nasal ridge, High palate, Narrow palate, Natal tooth, Mic...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental malocclusion, Talon cusp, Convex nasal ridge, High palate, Narrow palate, Natal tooth, Mic...	ORPHA:353277
Pseudoachondroplasia	Hypoplasia of the odontoid process, Limb undergrowth, Shortening of all metacarpals, Short femora...	ORPHA:750
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Limb undergrowth	ORPHA:166002
Phosphoribosylpyrophosphate Synthetase Superactivity	Convex nasal ridge, High palate, Wide mouth, Short nose, Depressed nasal bridge	OMIM:300661
Semilobar Holoprosencephaly	Single naris, Flexion contracture, High palate, Depressed nasal ridge, Neural tube defect, Probos...	ORPHA:220386
Alobar Holoprosencephaly	Single naris, Flexion contracture, High palate, Depressed nasal ridge, Neural tube defect, Probos...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Single naris, Flexion contracture, High palate, Depressed nasal ridge, Neural tube defect, Probos...	ORPHA:93926
Lobar Holoprosencephaly	Single naris, Flexion contracture, High palate, Depressed nasal ridge, Neural tube defect, Probos...	ORPHA:93924
Acromesomelic Dysplasia 3	Aplasia of the proximal phalanx of the 2nd finger, Short toe, Short femoral neck, Short 1st metac...	OMIM:609441
Angelman Syndrome	Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue, Scoliosis	ORPHA:72
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Convex nasal ridge, Cleft soft palate, Short nose, Intestinal malrotation, Optic nerve hypoplasia...	OMIM:619321
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Melioidosis	Parotitis, Abnormal parotid gland morphology	ORPHA:31202
Cystinosis	Malabsorption, Rickets	ORPHA:213
Lumbar Syndrome	Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus, Hypospadias, Cryptorc...	ORPHA:83628
Pyknoachondrogenesis	Depressed nasal ridge, Increased head circumference, Short ribs, Craniofacial hyperostosis, Abnor...	ORPHA:3003
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit...	ORPHA:1031
Bifid Uvula	Submucous cleft soft palate, Bifid uvula, Cleft lip	ORPHA:99771
Aplasia Of Lacrimal And Salivary Glands	Carious teeth, Lacrimal gland hypoplasia, Xerostomia, Lacrimal gland aplasia	OMIM:180920
Opsismodysplasia	Depressed nasal bridge, Macrocephaly, Short nose	ORPHA:2746
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Ulnar Hypoplasia	Hypoplasia of the radius, Distal ulnar hypoplasia, Mesomelic arm shortening, Hypoplasia of the ulna	OMIM:191440
Ppoma	Hypercalcemia	ORPHA:97278
Hardikar Syndrome	Umbilical hernia, Thoracolumbar scoliosis, Cleft soft palate, Intestinal malrotation, Celiac dise...	OMIM:301068
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Spinal dysraphism, Absence of the sacrum, Bifid uvula, Submucous cleft hard palate, Butterfly ver...	OMIM:617660
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Enamel hypoplasia, Foot joint contracture, Flexion contracture, Esophageal ulceration, Erosion of...	ORPHA:79408
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Wide mouth, Widely spaced teeth, Grayish enamel, Thin corpus callosum, Rec...	OMIM:253010
Scleroderma	Hyperintensity of cerebral white matter on MRI, Abnormal large intestine morphology, Abnormal sto...	ORPHA:801
Psoriasis 14, Pustular	Furrowed tongue, Oligoarthritis, Polyarticular arthritis, Geographic tongue	OMIM:614204
Khan-Khan-Katsanis Syndrome	Micrognathia, Short nose, Microcephaly, Triangular mouth, Tented upper lip vermilion, Cerebellar ...	OMIM:618460
Thanatophoric Dysplasia	Depressed nasal bridge, Macrocephaly, Micromelia	ORPHA:2655
Spondylocarpotarsal Synostosis Syndrome	Enamel hypoplasia, Failure of eruption of permanent teeth, Short nose, Broad nasal tip, Anteverte...	OMIM:272460
Opsismodysplasia	Long philtrum, Macrocephaly, Short nose, Depressed nasal bridge, Anteverted nares	OMIM:258480
Tetrasomy 9P	Convex nasal ridge, Micrognathia, Bifid uvula, Short neck, Amelogenesis imperfecta, Cleft palate,...	ORPHA:3310
Cantú Syndrome	Long philtrum, Wide nasal bridge, Wide mouth, Macrocephaly, Anteverted nares, Thick vermilion border	ORPHA:1517
Loeys-Dietz Syndrome 1	Retrognathia, Eosinophilic infiltration of the esophagus, Micrognathia, Bifid uvula, Camptodactyl...	OMIM:609192
Osebold-Remondini Syndrome	Short tibia, Short toe, Hypoplasia of the radius, Hypoplasia of the ulna, Mesomelia, Fibular hypo...	OMIM:112910
Fibular Aplasia-Complex Brachydactyly Syndrome	Aplasia/Hypoplasia of the fibula, Narrow nasal bridge, Micromelia	ORPHA:2639
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Cheilitis	ORPHA:2483
Brown-Vialetto-Van Laere Syndrome 1	Ankle clonus, Kyphosis, Tongue atrophy, Scoliosis, Tongue fasciculations	OMIM:211530
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Osteomalacia, Pathologic fracture, Reduced bone mineral density	ORPHA:157215
Hypertelorism-Microtia-Facial Clefting Syndrome	Bifid nose, Bifid nasal tip, Median cleft lip and palate	ORPHA:2213
Somatostatinoma	Hypercalcemia	ORPHA:97283
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Macrocephaly, Micromelia	ORPHA:93274
Culler-Jones Syndrome	Cleft palate, Cleft upper lip	OMIM:615849
1Q21.1 Microdeletion Syndrome	High palate, Long philtrum, Wide nasal bridge, Ankyloglossia, Microcephaly, Cryptorchidism, Bulbo...	ORPHA:250989
Thoracoabdominal Syndrome	Cleft palate, Cleft upper lip, Anencephaly, Cystic hygroma	OMIM:313850
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Wide mouth, Widely spaced teeth, Grayish enamel, Recurrent upper respirato...	OMIM:253000
Fanconi Renotubular Syndrome 2	Rickets, Recurrent fractures, Osteopenia, Osteomalacia	OMIM:613388
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio...	ORPHA:94093
Constricting Bands, Congenital	Cleft palate, Cleft upper lip, Encephalocele, Scoliosis	OMIM:217100
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Geleophysic Dysplasia 2	Thin upper lip vermilion, Long philtrum, Smooth philtrum, Short nose	OMIM:614185
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Fat malabsorption, Steatorrhea	OMIM:607765
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Wide mouth, Widely spaced teeth, Thick lower lip vermilion, Wide nasal bridge, Short philtrum, De...	OMIM:280000
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Depressed nasal ridge	ORPHA:1861
Wiedemann-Steiner Syndrome	High palate, Long philtrum, Wide nasal bridge, Short nose, Thin upper lip vermilion, Abnormal cor...	ORPHA:319182
Rajab Interstitial Lung Disease With Brain Calcifications 1	Thin bony cortex, High palate, Unconjugated hyperbilirubinemia, Joint laxity, Rickets, Osteopenia...	OMIM:613658
Grfoma	Hypercalcemia	ORPHA:97261
Igg4-Related Ophthalmic Disease	Abnormality of the anterior pituitary, Sialadenitis, Abnormality of the sphenoid sinus, Colon can...	ORPHA:449563
Satoyoshi Syndrome	Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Hypoplasia of the u...	ORPHA:3130
Geleophysic Dysplasia 1	Long philtrum, Wide mouth, Short nose, Anteverted nares, Smooth philtrum	OMIM:231050
Warsaw Breakage Syndrome	High palate, Microcephaly, Wide mouth	OMIM:613398
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Fat malabsorption, Steatorrhea	ORPHA:79303
Ogden Syndrome	Thick upper lip vermilion, Everted upper lip vermilion, Wide nasal bridge, Micrognathia, Prominen...	OMIM:300855
Alzahrani-Kuwahara Syndrome	Prominent nose, Long philtrum, Cavum septum pellucidum, Hypodontia, Micrognathia, Narrow philtrum...	OMIM:619268
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Polycystic ovaries, Abnormal salivary gland morphology, Enlarged polycystic ova...	ORPHA:2298
Scheie Syndrome	Everted lower lip vermilion, Rhinitis, Wide mouth, Thick vermilion border	ORPHA:93474
Arterial Tortuosity Syndrome	Pyloric stenosis, Macrocephaly, Median cleft lip and palate, Short nose, Abnormal zygomatic bone ...	ORPHA:3342
Loeys-Dietz Syndrome 3	Retrognathia, Dental malocclusion, Protrusio acetabuli, High palate, Eosinophilic infiltration of...	OMIM:613795
Intellectual Developmental Disorder, Autosomal Dominant 68	Retrognathia, High palate, Wide mouth, Microcephaly, Bulbous nose	OMIM:619934
Cholera	Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia	ORPHA:173
Okamoto Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Exaggerated median tongue furrow, Short nose, Intes...	ORPHA:2729
Smith-Lemli-Opitz Syndrome	Hypoplasia of the frontal lobes, Global brain atrophy, Wide nasal bridge, Micrognathia, Bifid uvu...	OMIM:270400
Amed Syndrome, Digenic	Bone marrow hypocellularity, Hypoplasia of the uterus	OMIM:619151
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dentinogenesis imperfecta, High palate, Long philtrum, Micrognathia, Microdontia, Short nose, Dep...	ORPHA:536467
Jeune Syndrome	Short foot, Micromelia	ORPHA:474
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Microdontia, Narrow mouth, Widely spaced teeth, Thick vermilion border	ORPHA:324540
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Choanal stenosis, Short nose, Anteriorly placed anus, Depressed nasal bridge, Narrow mouth, Still...	ORPHA:95699
Degcags Syndrome	Micrognathia, Tracheomalacia, Smooth philtrum, Intestinal atresia, Genu valgum, Prominent nose, J...	OMIM:619488
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Macrocephaly, Depressed nasal bridge, Megalencephaly, Mesomelia, Hypoplasia of the co...	OMIM:616482
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Jacobsen Syndrome	Long philtrum, Wide nasal bridge, Abnormality of the anus, Ectopic anus, Pyloric stenosis, Macroc...	ORPHA:2308
Sotos Syndrome	Bilateral camptodactyly, Flexion contracture, Hip contracture, Hypodontia, No permanent dentition...	ORPHA:821
Spinocerebellar Ataxia 36	Tongue fasciculations, Tongue atrophy	OMIM:614153
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Bilateral Perisylvian Polymicrogyria	Distal arthrogryposis, Flexion contracture, Micrognathia, Protruding tongue, Choanal atresia	ORPHA:98889
Multiple Epiphyseal Dysplasia Type 5	Genu varum, Genu valgum, Decreased hip abduction, Abnormal hip joint morphology, Delayed proximal...	ORPHA:93311
Scleromyxedema	Narrow mouth	ORPHA:167635
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Wide nose, High palate, Midline nasal groove, Wide mouth, Short lingual frenulum, Broad nasal tip...	ORPHA:1521
Isotretinoin-Like Syndrome	Micrognathia, Hypocalcemia, Cleft palate	ORPHA:2306
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Hypocalcemia, Abnormal palate morphology, Joint hyperflexibility, Lim...	ORPHA:175
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Wide mouth, Deep philtrum, Microcephaly, Smooth philtrum, Hypoplasia of the corpus callosum, Low ...	OMIM:617260
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ambiguous genitalia, male...	ORPHA:90793
Dyggve-Melchior-Clausen Disease	Rhizomelic arm shortening, Mandibular prognathia, Short metacarpal, Hypoplasia of the odontoid pr...	OMIM:223800
Transaldolase Deficiency	Wide mouth, Deep philtrum, Short philtrum, Depressed nasal bridge, Thin vermilion border	OMIM:606003
Cornelia De Lange Syndrome	Cerebral cortical atrophy, Delayed eruption of teeth, Micrognathia, Cleft palate, Choanal atresia...	ORPHA:199
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Fibular hypoplasia, Micromelia, Hypoplasia of the ulna	ORPHA:2634
Neuroocular Syndrome	Retrognathia, Hyperextensibility of the finger joints, Widely spaced teeth, Ankyloglossia, Submuc...	OMIM:619539
Bilateral Polymicrogyria	Difficulty in tongue movements, Perisylvian polymicrogyria, Wide mouth, 4-layered lissencephaly, ...	ORPHA:268940
Pontocerebellar Hypoplasia Type 7	Thick upper lip vermilion, Hypoplasia of the brainstem, High palate, Abnormal cerebral morphology...	ORPHA:284339
Atypical Werner Syndrome	Osteolytic defects of the phalanges of the hand, Convex nasal ridge, Micrognathia, Increased bone...	ORPHA:79474
Aspartylglucosaminuria	Mandibular prognathia, Wide nasal bridge, Malabsorption, Macroglossia, Short nose, Carious teeth,...	ORPHA:93
Acrodermatitis Enteropathica	Cerebral cortical atrophy, Malabsorption, Glossitis, Furrowed tongue, Abnormality of the tongue, ...	ORPHA:37
Schinzel-Giedion Syndrome	Retrognathia, Choanal stenosis, Cerebral cortical atrophy, High palate, Wide mouth, Delayed erupt...	ORPHA:798
Hartnup Disease	Malabsorption, Gingivitis, Glossitis	ORPHA:2116
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Tongue atrophy	ORPHA:276198
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Convex nasal ridge, Flexion contracture, Wide nasal bridge, Delayed eruption of teeth, Bifid uvul...	ORPHA:261537
Sarcoidosis	Enlargement of parotid gland, Hypercalcemia, Parotitis, Bone cyst	ORPHA:797
Juvenile Nephropathic Cystinosis	Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine...	ORPHA:411634
Holoprosencephaly 14	Proboscis, Median cleft lip, Anteverted nares, Cleft lip, Cleft palate	OMIM:619895
Toriello-Lacassie-Droste Syndrome	Aganglionic megacolon, Macrocephaly, Short nose, Anteverted nares, Absent septum pellucidum, Agen...	ORPHA:3339
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the nose, Hypoplasia of the radius, Vertebral segment...	ORPHA:3186
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Decreased prealbumin level, Osteomyelitis, Abnormal blood ion concentration, Hypocalcemia, Hypoma...	ORPHA:37042
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Thin corpus callosum, Microcephaly, Micromelia, Cerebellar vermis hypoplasia	OMIM:600092
Hereditary Folate Malabsorption	Cerebral calcification, Glossitis, Cheilitis	ORPHA:90045
Fanconi Renotubular Syndrome 3	Rickets	OMIM:615605
Microphthalmia, Syndromic 6	Retrognathia, High palate, Micrognathia, Bifid uvula, Microglossia, Cleft palate, Short middle ph...	OMIM:607932
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Perrault Syndrome 4	Bicornuate uterus, Hypoplasia of the ovary, Hypoplasia of the uterus	OMIM:615300
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Short nose	OMIM:277450
Fanconi-Bickel Syndrome	Malabsorption, Osteomalacia	OMIM:227810
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cleft palate, Cleft upper lip, Death in childhood	OMIM:600460
Mayer-Rokitansky-Küster-Hauser Syndrome	Aplasia of the uterus, Hypoplasia of the vagina	ORPHA:3109
Mowat-Wilson Syndrome	Flexion contracture, Wide nasal bridge, Delayed eruption of teeth, Prominent nasal tip, Bifid uvu...	ORPHA:2152
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Septate vagina, Aplasia of the vagina, Uterus didelphys, Aplasia of the uterus	OMIM:146255
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Urogenital sinus anomaly, Midshaft hypospadias, Sex reversal, Decreased testicular size, Ambiguou...	ORPHA:168558
Walker-Warburg Syndrome	Cleft palate, Bifid uvula, Submucous cleft hard palate	ORPHA:899
Osteogenesis Imperfecta, Type Ii	Convex nasal ridge, Limb undergrowth	OMIM:166210
Chondrodysplasia-Disorder Of Sex Development Syndrome	Cerebral hypoplasia, Microcephaly, Short metacarpal, Micromelia	ORPHA:1422
Spondyloepimetaphyseal Dysplasia, Krakow Type	High palate, Rhizomelia, Allergic rhinitis, Mesomelia, Annular pancreas	OMIM:618162
Joubert Syndrome 1	Hypoplasia of the brainstem, Macrocephaly, Macroglossia, Protruding tongue, Triangular-shaped ope...	OMIM:213300
Mesomelic Dysplasia, Savarirayan Type	Short tibia, Mesomelia, Fibular aplasia	OMIM:605274
Trichohepatoneurodevelopmental Syndrome	High palate, Wide mouth, Widely spaced teeth, Cerebellar hypoplasia, Microdontia, Thin corpus cal...	OMIM:618268
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Hypoplasia of the uterus	ORPHA:247768
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Urogenital sinus anomaly, Midshaft hypospadias, Sex reversal, Decreased testicular size, Ambiguou...	ORPHA:289548
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Convex nasal ridge, Flexion contracture, Wide nasal bridge, Delayed eruption of teeth, Bifid uvul...	ORPHA:261552
Systemic Sclerosis	Abnormal large intestine morphology, Abnormal stomach morphology, Narrow mouth, Intestinal bleedi...	ORPHA:90291
Loeys-Dietz Syndrome 6	High palate, Hip osteoarthritis, Scoliosis, Intervertebral disc degeneration, Knee osteoarthritis	OMIM:619656
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Lymph node hypoplasia	ORPHA:276
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Knee flexion contracture, Microdontia, Elbow flexion contracture, Oral leukoplakia, Furrowed tongue	OMIM:148210
Juvenile Sialidosis Type 2	Protruding tongue, Gingival overgrowth, Umbilical hernia, Abnormal form of the vertebral bodies	ORPHA:93399
Schinzel-Giedion Midface Retraction Syndrome	Choanal stenosis, Macroglossia, Short nose, Depressed nasal bridge, Anteverted nares, Cerebral at...	OMIM:269150
1P36 Deletion Syndrome	Cerebral cortical atrophy, Depressed nasal ridge, Long philtrum, Wide nasal bridge, Abnormality o...	ORPHA:1606
Noonan Syndrome 14	Long philtrum, Wide mouth, Prominent nasal bridge, Prominent nasolabial fold, High, narrow palate...	OMIM:619745
Coach Syndrome 1	Wide mouth, Aplasia/Hypoplasia of the cerebellar vermis, Anteverted nares, Esophageal varix, Cere...	OMIM:216360
Coxoauricular Syndrome	Micromelia	ORPHA:1508
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	High palate, Wide nasal bridge, Short nose, Downturned corners of mouth, Broad nasal tip, Microce...	OMIM:619522
Thanatophoric Dysplasia Type 1	Depressed nasal bridge, Macrocephaly, Micromelia, Short femur	ORPHA:1860
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Ambiguous genitalia, female, Hypoplasia of the vagina, Decreased testicular size, Precocious pube...	OMIM:202010
Ablepharon-Macrostomia Syndrome	Short upper lip, Wide mouth, Short metacarpal, Abnormal nasal morphology, Anteriorly placed anus,...	OMIM:200110
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Mesomelia, Micromelia	ORPHA:2633
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Hyperbilirubinemia, Short philtrum, Thin upper lip vermi...	ORPHA:163979
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hemiballismus, Prominent nasal tip, Short nose, Thin upper lip vermilion, Smooth philtrum	ORPHA:522077
Léri-Weill Dyschondrosteosis	Short tibia, Patellar aplasia, Wide nasal bridge, Hypoplasia of the radius, Hypoplasia of the uln...	ORPHA:240
Juvenile Polyposis Syndrome	Hamartomatous stomach polyps, Stomach cancer, Juvenile colonic polyposis, Intussusception, Sponta...	ORPHA:2929
Mucopolysaccharidosis, Type Iiid	Wide mouth, Thick lower lip vermilion, Broad alveolar ridges, Macrocephaly, Macroglossia, Depress...	OMIM:252940
Down Syndrome	Short middle phalanx of the 5th finger, Aganglionic megacolon, Anal atresia, Macroglossia, Duoden...	OMIM:190685
Methylmalonic Aciduria And Homocystinuria, Cblf Type	High palate, Stomatitis, Glossitis, Tracheoesophageal fistula, Thin upper lip vermilion	OMIM:277380
Becker Nevus Syndrome	Supernumerary nipple, Micromelia	ORPHA:64755
Normosmic Congenital Hypogonadotropic Hypogonadism	Female hypogonadism, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, Male hy...	ORPHA:432
Giant Cell Arteritis	Arthritis, Recurrent pharyngitis, Glossitis, Epistaxis, Joint stiffness	ORPHA:397
Kikuchi-Fujimoto Disease	Oral ulcer, Enlargement of parotid gland	ORPHA:50918
Methylmalonic Acidemia With Homocystinuria Type Cblf	Cleft palate, Stomatitis, Glossitis	ORPHA:79284
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Ankle clonus, Talipes valgus, Flexion contracture, Submucous cleft hard palate, Narrow nose	OMIM:618891
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Charcot-Marie-Tooth Disease Type 1F	Flexion contracture of finger, Scoliosis, Tongue atrophy	ORPHA:101085
Pitt-Hopkins-Like Syndrome 2	Protruding tongue, Wide mouth	OMIM:614325
Digeorge Syndrome	High palate, Patellar dislocation, Micrognathia, Bifid uvula, Short philtrum, Recurrent sinusitis...	OMIM:188400
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Narrow mouth, Prominent nose, Microcephaly	OMIM:614748
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	High palate, Wide mouth, Widely spaced teeth, Wide nasal bridge, Micrognathia, Microdontia, Bifid...	OMIM:266920
Mesomelic Dysplasia, Kantaputra Type	Mesomelia	OMIM:156232
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Noonan Syndrome 3	Hypoplastic nasal bridge, High palate, Anteverted nares, Short nose	OMIM:609942
Nievergelt Syndrome	Mesomelia	OMIM:163400
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Purine Nucleoside Phosphorylase Deficiency	Lymph node hypoplasia, Splenomegaly	OMIM:613179
Fanconi-Bickel Syndrome	Rickets, Osteopenia	ORPHA:2088
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Abnormal salivary gland morphology, Enlarged lacrimal glands	OMIM:181000
Cowden Syndrome	Colorectal polyposis, High palate, Kyphosis, Macroglossia, Scoliosis, Bone cyst, Furrowed tongue,...	ORPHA:201
Intellectual Developmental Disorder, Autosomal Dominant 53	Wide mouth, Hyperintensity of cerebral white matter on MRI, Thick corpus callosum, Macrocephaly, ...	OMIM:617798
Steinfeld Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the nose, Hypoplasia of the radius, Bifid uvula, Miss...	OMIM:184705
Mesomelic Dysplasia, Savarirayan Type	Hypoplasia of proximal radius, Mesomelia, Fibular aplasia	ORPHA:85170
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Malabsorption, Narrow mouth	OMIM:616539
Peroxisome Biogenesis Disorder 4B	Macrocephaly, Short nose	OMIM:614863
Fibular Hemimelia	Short tibia, Short toe, Foot oligodactyly, Short femur, Limb undergrowth, Proximal femoral focal ...	ORPHA:93323
Wilson Disease	Hyposmia, Osteomalacia, Joint hypermobility, Esophageal varix, Chondrocalcinosis, Osteoporosis, O...	OMIM:277900
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Steatorrhea, Rickets, Colitis, Osteoporosis	ORPHA:309031
Charcot-Marie-Tooth Disease Type 4B2	Difficulty in tongue movements, Kyphoscoliosis, Scoliosis, Tongue atrophy	ORPHA:99956
Pallister-Hall Syndrome	Distal arthrogryposis, Short 4th metacarpal, Depressed nasal ridge, Natal tooth, Arrhinencephaly,...	ORPHA:672
Metaphyseal Chondrodysplasia, Schmid Type	Limb undergrowth	ORPHA:174
Congenital Sialidosis Type 2	Macrocephaly, Protruding tongue, Gingival overgrowth	ORPHA:93400
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Enlarged polycystic ovaries, Hypoplasia of the vagina, Decreased testicular size, Ambiguous genit...	ORPHA:90796
Yunis-Varon Syndrome	Hypoplasia of the frontal lobes, Absent thumb, Micrognathia, Hypoplastic facial bones, Absent ste...	OMIM:216340
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Prominent nose, Wide mouth, Widely spaced teeth, Prominent nasal bridge, Cerebellar hypoplasia, R...	ORPHA:466791
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Dental malocclusion, Convex nasal ridge, Rhizomelia, Delayed eruption ...	ORPHA:666
Mowat-Wilson Syndrome	Wide nasal bridge, Widely spaced teeth, Delayed eruption of teeth, Aganglionic megacolon, Pyloric...	OMIM:235730
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
X-Linked Intellectual Disability, Nascimento Type	Underdeveloped nasal alae, Hypointensity of cerebral white matter on MRI, Wide mouth, Deep philtr...	ORPHA:163956
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Thin corpus callosum, Protruding tongue, Microcephaly	OMIM:619580
Coffin-Siris Syndrome 1	Conical tooth, Delayed eruption of teeth, Microdontia, Cleft palate, Gastric ulcer, Choanal atres...	OMIM:135900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Cleft palate, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Mesomelic Dysplasia, Kantaputra Type	Mesomelia	ORPHA:1836
Pachyonychia Congenita 3	Furrowed tongue, Gingivitis, Chapped lip, Oral leukoplakia	OMIM:615726
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High palate, Wide nasal bridge, Ankyloglossia, Macrocephaly, Short philtrum, Depressed nasal tip,...	OMIM:619475
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Cerebral calcification, Short nose, Macroglossia, Thick vermilion border	ORPHA:505248
Oeis Complex	Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male, La...	OMIM:258040
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus	OMIM:615363
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia	ORPHA:31826
Adams-Oliver Syndrome 1	Cleft palate, Cleft upper lip, Encephalocele	OMIM:100300
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Short 4th metacarpal, Rhizomelia, Short 5th metacarpal, Short femoral neck, Relative macrocephaly...	OMIM:618019
Igg4-Related Kidney Disease	Abnormality of the anterior pituitary, Chronic sinusitis, Sialadenitis	ORPHA:449395
Lipodystrophy, Familial Partial, Type 7	Narrow mouth, Narrow nasal ridge, Short nose	OMIM:606721
Autosomal Dominant Cerebellar Ataxia	Tongue fasciculations, Torticollis, Tongue atrophy	ORPHA:99
Pearson Syndrome	Hyperalaninemia, Hypophosphatemia, Hypokalemia, Median cleft lip and palate, Hypocalcemia, Hypoma...	ORPHA:699
X-Linked Dystonia-Parkinsonism	Protruding tongue	ORPHA:53351
Vascular Ehlers-Danlos Syndrome	Gingivitis, Periodontitis, Microdontia, Premature loss of primary teeth, Gingival overgrowth, Abn...	ORPHA:286
Tibial Hemimelia	Short tibia, Mesomelic leg shortening, Foot oligodactyly, Aplasia of the 4th metacarpal, Absent t...	ORPHA:93322
Acrocephalopolydactylous Dysplasia	Hypoplasia of the small intestine, Hypoplastic colon, Short nose	OMIM:200995
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Micromelia	OMIM:608728
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus	OMIM:271520
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth	OMIM:251800
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Wide nasal bridge, Wide mouth, Thin upper lip vermilion, Downturned corners of mouth, Depressed n...	ORPHA:466943
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Agammaglobulinemia, X-Linked	Epididymitis, Lymph node hypoplasia, Prostatitis	OMIM:300755
Mucoepithelial Dysplasia, Hereditary	Furrowed tongue, Erythematous oral mucosa, Eosinophilia	OMIM:158310
Immunodeficiency 82 With Systemic Inflammation	Oral ulcer, Osteomyelitis, Duodenal ulcer, Villous atrophy, Osteomalacia, Arthritis, Gastritis, J...	OMIM:619381
Blau Syndrome	Abnormal salivary gland morphology, Xerostomia	ORPHA:90340
Liver Disease, Severe Congenital	Hyperalaninemia, Micrognathia, Hyperbilirubinemia, Elevated hepatic iron concentration, Joint lax...	OMIM:619991
Infection-Related Hemolytic Uremic Syndrome	Septic arthritis, Hypocalcemia, Hyperkalemia, Hyponatremia	ORPHA:544482
Gitelman Syndrome	Hypokalemia, Hypermagnesemia, Gout, Hypocalcemia, Hypomagnesemia	ORPHA:358
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Leukoencephalopathy, Stomatitis, Glossitis, Microcephaly, Periventricular white matter hyperinten...	ORPHA:79282
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Glossitis	ORPHA:35858
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus	OMIM:617914
Diets-Jongmans Syndrome	Wide mouth, Thick corpus callosum, Thin upper lip vermilion, Broad nasal tip, Low hanging columel...	OMIM:618846
Pallister-Killian Syndrome	Wide nasal bridge, Delayed eruption of teeth, Micrognathia, Bifid uvula, Everted lower lip vermil...	OMIM:601803
Floating-Harbor Syndrome	Underdeveloped nasal alae, Prominent nose, Wide mouth, Microdontia, Short philtrum, Thin upper li...	OMIM:136140
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Difficulty in tongue movements, Scoliosis, Tongue atrophy	ORPHA:99949
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Precocious puberty in females, Urogenital sinus anomaly, Ambiguous genitalia, Ambiguous genitalia...	ORPHA:90794
Aspartylglucosaminuria	Wide mouth, Hypoplastic frontal sinuses, Thick lower lip vermilion, Macroglossia, Depressed nasal...	OMIM:208400
Microphthalmia, Syndromic 9	Bicornuate uterus, Multilobulated spleen, Cryptorchidism, Hypoplastic spleen, Hypoplasia of the u...	OMIM:601186
Spondyloepimetaphyseal Dysplasia, Shohat Type	Central vertebral hypoplasia, Limb undergrowth	ORPHA:93352
Distal Renal Tubular Acidosis	Rickets, Increased susceptibility to fractures, Osteomalacia, Reduced bone mineral density	ORPHA:18
Mosaic Trisomy 16	Wide mouth, Craniofacial asymmetry, Anteriorly placed anus, Meckel diverticulum, Abnormality of t...	ORPHA:1708
Microsporidiosis	Rhinitis, Sinusitis, Glossitis, Osteomyelitis	ORPHA:2552
Sillence Syndrome	Flat acetabular roof, Short finger, Abnormal vertebral morphology, Aplasia of the middle phalanx ...	ORPHA:3168
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal cerebral white matter morphology, Periventricular leukomalacia, Microcephaly, Tongue atr...	ORPHA:466768
Agel Amyloidosis	Xerostomia, Tongue atrophy	ORPHA:85448
Meckel Syndrome 14	Aplasia of the uterus, Ambiguous genitalia	OMIM:619879
Alkaptonuria	Vertebral fusion, Kyphosis, Arthropathy, Arthritis, Limited hip movement, Limited shoulder moveme...	OMIM:203500
Acromesomelic Dysplasia 1	Short nose	OMIM:602875
Osteogenesis Imperfecta, Type Vii	Rhizomelia, Long philtrum, Micromelia, Death in infancy	OMIM:610682
Chromosome 17Q12 Deletion Syndrome	Unicornuate uterus, Aplasia of the uterus, Urethral stenosis, Cryptorchidism, Ovarian cyst, Aplas...	OMIM:614527
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Hypoplasia of the uterus	ORPHA:785
Carney Complex	Esophageal neoplasm, Neoplasm of the pancreas, Ovarian serous cystadenoma, Ovarian carcinoma, Tes...	ORPHA:1359
Fanconi Anemia, Complementation Group L	Aplasia of the uterus, Micropenis, Bone marrow hypocellularity	OMIM:614083
Thymic Aplasia	Hypocalcemic tetany, Sinusitis	ORPHA:83471
Myoectodermal Gonadal Dysgenesis Syndrome	Hypoplastic labia majora, Clitoral hypoplasia, Accessory spleen, Gonadal dysgenesis, Hypoplasia o...	OMIM:618419
Visceral Steatosis, Congenital	Hypocalcemia	OMIM:228100
Choreoacanthocytosis	Arthritis, Protruding tongue, Temporomandibular joint crepitus	ORPHA:2388
Multiple Osteochondromas	Short metacarpal, Short lower limbs, Limb undergrowth, Intestinal obstruction, Forearm undergrowt...	ORPHA:321
Kawasaki Disease	Arthritis, Recurrent pharyngitis, Glossitis, Cheilitis	ORPHA:2331
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Johanson-Blizzard Syndrome	Increased VLDL cholesterol concentration, Joint laxity, Agenesis of permanent teeth, Hypocalcemia...	OMIM:243800
Slc39A8-Cdg	Limb undergrowth, Cerebral cortical atrophy	ORPHA:468699
Woodhouse-Sakati Syndrome	Decreased testicular size, Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Hypo...	OMIM:241080
Cardiac-Urogenital Syndrome	Ambiguous genitalia, Bifid scrotum, Unilateral cryptorchidism, Aplasia of the uterus, Penoscrotal...	OMIM:618280
Cystinosis, Nephropathic	Rickets, Genu valgum, Hypophosphatemic rickets	OMIM:219800
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Hypoplasia of the uterus, Ovotestis, Micropenis, Clitoral hypertrophy, Chordee	OMIM:309801
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Woodhouse-Sakati Syndrome	Abnormal spermatogenesis, Hypogonadism, Decreased testicular size, Hypoplasia of the fallopian tu...	ORPHA:3464
Cardiospondylocarpofacial Syndrome	Long philtrum, Wide nasal bridge, Wide mouth, Hypoplastic nasal tip, Anteverted nares, Bulbous nose	OMIM:157800
Primary Fanconi Renotubular Syndrome	Increased susceptibility to fractures, Hypophosphatemic rickets, Osteomalacia	ORPHA:3337
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Hepatosplenomegaly	OMIM:274000
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteoporosis of vertebrae, Depressed nasal ridge, Osteopenia, Median cleft lip and palate	ORPHA:95494
Exstrophy-Epispadias Complex	Absent penis, Bifid scrotum, Penoscrotal transposition, Epispadias, Bifid uterus, Bifid penis, Cy...	ORPHA:322
Penile Agenesis	Anal atresia, Short nose, Tracheoesophageal fistula, Depressed nasal bridge, Rectal fistula	ORPHA:49
Renal Cysts And Diabetes Syndrome	Atretic vas deferens, Bicornuate uterus, Epididymal cyst, Hypospadias, Hypoplasia of the uterus	OMIM:137920
Plague	Enterocolitis, Abnormality of the elbow, Arthritis, Glossitis, Inflammation of the large intestin...	ORPHA:707
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Osteomalacia, Fused cervical vertebrae, Abnormal hip joint morphology, S...	ORPHA:51608
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Ambiguous genitalia, Vesicovaginal fistula, Bifid scrotum, Fused labia majora, Labial hypoplasia,...	OMIM:201750
Ehlers-Danlos Syndrome, Vascular Type	Cervical insufficiency, Uterine rupture, Cryptorchidism, Cystocele, Uterine prolapse	OMIM:130050
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Bifid uterus, Hypospadias, Cryptorchidism, Urethral valve, ...	OMIM:107480
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Cryptorchidism, Small scrotum	OMIM:276820
Pmm2-Cdg	Retrognathia, Mandibular prognathia, High palate, Long philtrum, Wide mouth, Prominent nose, Cere...	ORPHA:79318
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Polycystic ovaries, Hypergonadotropic hypogonadism, Hypoplasia of the uterus	ORPHA:572333
Norrie Disease	Uterine rupture, Cryptorchidism	ORPHA:649

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Satb2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Satb2.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Astrocyte layers in the mammalian cerebral cortex revealed by a single-cell in situ transcriptomic map.	Nature neuroscience (March 2020)	Satb2^{tm1c(KOMP)Wtsi}	32203496
Satb2 is required for the regionalization of retrosplenial cortex.	Cell death and differentiation (October 2019)	Satb2^{tm1c(KOMP)Wtsi} Satb2^{tm1a(KOMP)Wtsi}	PMC7206047
Loss of Satb2 in the Cortex and Hippocampus Leads to Abnormal Behaviors in Mice.	Frontiers in molecular neuroscience (February 2019)	Satb2^{tm1c(KOMP)Wtsi}	PMC6380165
Genes encoding SATB2-interacting proteins in adult cerebral cortex contribute to human cognitive ability.	PLoS genetics (February 2019)	Satb2^{tm1c(KOMP)Wtsi}	PMC6364870
Satb2 ablation decreases PTZ-induced seizure susceptibility and pyramidal neuronal excitability.	Brain research (May 2018)	Satb2^{tm1c(KOMP)Wtsi}	29750936
Satb2 Ablation Impairs Hippocampus-Based Long-Term Spatial Memory and Short-Term Working Memory and Immediate Early Genes (IEGs)-Mediated Hippocampal Synaptic Plasticity.	Molecular neurobiology (April 2017)	Satb2^{tm1c(KOMP)Wtsi} Satb2^{tm1a(KOMP)Wtsi}	28421537
Satb2 determines miRNA expression and long-term memory in the adult central nervous system.	eLife (November 2016)	Satb2^{tm1c(KOMP)Wtsi} Satb2^{tm1a(KOMP)Wtsi}	PMC5207769
Mutual regulation between Satb2 and Fezf2 promotes subcerebral projection neuron identity in the developing cerebral cortex.	Proceedings of the National Academy of Sciences of the United States of America (August 2015)	Satb2^{tm1c(KOMP)Wtsi} Satb2^{tm1a(KOMP)Wtsi}	PMC4577201

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele	Allele Type	Produced
Satb2^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Satb2^{tm41799(L1L2_gt1_Del_LacZ)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Satb2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Satb2^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Satb2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Satb2^em3(IMPC)Tcp	Indel	Mice, Tissue
Satb2^em2(IMPC)Mbp	Indel	Mice
Satb2^{tm41799(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Satb2 MGI:2679336

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Pathology and Tissue Collection

MicroCT E14.5-E15.5

X-ray

X-ray

X-ray

Histopathology

Eye Morphology

Eye Morphology

Human diseases caused by Satb2 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 19.0 Data