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Gene: Memo1 MGI:1924140

Gene Summary

Name:

mediator of cell motility 1

Synonyms:

0610016J10Rik, D930048L02Rik

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
unresponsive to tactile stimuli	Memo1^{tm1b(EUCOMM)Wtsi}	HET	E18.5	0.00
preweaning lethality, complete penetrance	Memo1^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
unresponsive to tactile stimuli	Memo1^{tm1b(EUCOMM)Wtsi}	HOM	E18.5	0.00
abnormal pericardium morphology	Memo1^{tm1b(EUCOMM)Wtsi}	HOM	E12.5	0.00
abnormal embryo size	Memo1^{tm1b(EUCOMM)Wtsi}	HOM	E18.5	0.00
trunk curl	Memo1^{tm1a(EUCOMM)Wtsi}	HET	Early adult	3.79×10^-07
thick ventricular wall	Memo1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.02×10^-05
preweaning lethality, complete penetrance	Memo1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
hemorrhage	Memo1^{tm1b(EUCOMM)Wtsi}	HOM	E18.5	0.00
edema	Memo1^{tm1b(EUCOMM)Wtsi}	HOM	E18.5	0.00

Download data as: TSV XLS

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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	Wholemount images	heterozygote	100% (2 of 2)
Aorta	Wholemount images	heterozygote	100% (2 of 2)
Bone	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Gall bladder	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Mammary gland	Wholemount images	heterozygote	50% (1 of 2)
Mesenteric lymph node	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Pancreas	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Prostate gland	Wholemount images	heterozygote	50% (1 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Small intestine	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thymus	Wholemount images	heterozygote	100% (2 of 2)
Thyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Trigeminal V nerve	Wholemount images	heterozygote	100% (2 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Vas deferens	Wholemount images	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	Not available
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	50% (1 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	Ambiguous
Pituitary gland	N/A	heterozygote	Not available
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	100% (2 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Heart atrium	N/A	heterozygote	100% (2 of 2)
Axial skeleton	N/A	heterozygote	100% (2 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Central nervous system ganglion	N/A	heterozygote	100% (2 of 2)
Cranium	N/A	heterozygote	100% (2 of 2)
Dorsal root ganglion	N/A	heterozygote	100% (2 of 2)
Ear	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Outer ear	N/A	heterozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Femur pre-cartilage condensation	N/A	heterozygote	100% (2 of 2)
Footplate	N/A	heterozygote	100% (2 of 2)
Forearm	N/A	heterozygote	100% (2 of 2)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	100% (2 of 2)
Fronto-nasal process	N/A	heterozygote	100% (2 of 2)
Gut	N/A	heterozygote	100% (2 of 2)
Handplate	N/A	heterozygote	100% (2 of 2)
Head mesenchyme	N/A	heterozygote	100% (2 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Heart ventricle	N/A	heterozygote	100% (2 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindlimb	N/A	heterozygote	100% (2 of 2)
Humerus pre-cartilage condensation	N/A	heterozygote	100% (2 of 2)
Inner ear	N/A	heterozygote	100% (2 of 2)
Intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	100% (2 of 2)
Lower leg	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Mandibular process	N/A	heterozygote	100% (2 of 2)
Maxillary process	N/A	heterozygote	100% (2 of 2)
Mesonephros of female	N/A	heterozygote	100% (2 of 2)
Mesonephros of male	N/A	heterozygote	100% (2 of 2)
Metanephros	N/A	heterozygote	100% (2 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Nasal septum	N/A	heterozygote	100% (2 of 2)
Nose	N/A	heterozygote	100% (2 of 2)
Notochord	N/A	heterozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	100% (2 of 2)
Outflow tract	N/A	heterozygote	100% (2 of 2)
Pancreas	N/A	heterozygote	100% (2 of 2)
	N/A	heterozygote	100% (2 of 2)
Pharynx	N/A	heterozygote	100% (2 of 2)
Radius-ulna pre-cartilage condensation	N/A	heterozygote	100% (2 of 2)
Rib pre-cartilage condensation	N/A	heterozygote	100% (2 of 2)
Skeleton	N/A	heterozygote	100% (2 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	heterozygote	100% (2 of 2)
Tail	N/A	heterozygote	100% (2 of 2)
Thoracic vertebral cartilage condensation	N/A	heterozygote	100% (2 of 2)
Tongue	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	100% (2 of 2)
Trunk mesenchyme	N/A	heterozygote	100% (2 of 2)
Umbilical artery embryonic part	N/A	heterozygote	100% (2 of 2)
Umbilical vein embryonic part	N/A	heterozygote	100% (2 of 2)
Upper arm	N/A	heterozygote	100% (2 of 2)
Upper leg	N/A	heterozygote	100% (2 of 2)
Urinary system	N/A	heterozygote	100% (2 of 2)
Vibrissa	N/A	heterozygote	100% (2 of 2)

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)
bone	0.0%
brain	0.84% (5 of 598)
brainstem	0.33% (2 of 598)
brown adipose tissue	0.0%
cartilage tissue	0.17% (1 of 598)
cerebellum	0.5% (3 of 598)
cerebral cortex	0.33% (2 of 598)
esophagus	1.66% (7 of 422)
eye	0.0%
gall bladder	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%
mesenteric lymph node	0.31% (1 of 323)
olfactory lobe	0.33% (2 of 598)
oral epithelium	0.0%
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
parathyroid gland	0.17% (1 of 576)
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)
trigeminal v nerve	0.0%
urinary bladder	0.0%
uterus	0.33% (2 of 598)
vas deferens	4.56% (18 of 395)
vascular system	0.0%
white adipose tissue	0.0%

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

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
atrium	1.67% (1 of 60)
axial skeleton	1.56% (1 of 64)
brain	1.17% (6 of 511)
central nervous system ganglion	1.37% (1 of 73)
cranium	1.56% (1 of 64)
dorsal root ganglion	1.67% (1 of 60)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
external ear	1.35% (1 of 74)
eye	0.2% (1 of 511)
femur pre-cartilage condensation	1.82% (1 of 55)
footplate	0.2% (1 of 511)
forearm	0.33% (1 of 305)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
fronto-nasal process	1.64% (1 of 61)
gut	1.69% (1 of 59)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
head mesenchyme	1.67% (1 of 60)
heart	0.2% (1 of 511)
heart ventricle	1.67% (1 of 60)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
humerus pre-cartilage condensation	1.56% (1 of 64)
inner ear	1.56% (1 of 64)
intestine	1.72% (1 of 58)
liver	0.2% (1 of 506)
lower leg	0.33% (1 of 305)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
mesonephros of female	1.82% (1 of 55)
mesonephros of male	1.82% (1 of 55)
metanephros	1.82% (1 of 55)
midbrain	0.2% (1 of 511)
nasal septum	1.67% (1 of 60)
nose	1.28% (1 of 78)
notochord	1.67% (1 of 60)
oral cavity	0.2% (1 of 506)
outflow tract	1.67% (1 of 60)
pancreas	1.82% (1 of 55)
pericardium	1.82% (1 of 55)
pharynx	1.79% (1 of 56)
radius-ulna pre cartilage condensation	1.56% (1 of 64)
rib pre-cartilage condensation	1.75% (1 of 57)
skeleton	1.28% (1 of 78)
skin	0.2% (1 of 511)
spinal cord	1.39% (1 of 72)
stomach	1.82% (1 of 55)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)
thoracic vertebral cartilage condensation	1.82% (1 of 55)
tongue	1.82% (1 of 55)
trachea	1.69% (1 of 59)
trunk mesenchyme	1.67% (1 of 60)
umbilical artery embryonic part	1.67% (1 of 60)
umbilical vein embryonic part	1.67% (1 of 60)
upper arm	0.33% (1 of 305)
upper leg	0.33% (1 of 305)
urinary system	1.69% (1 of 59)
vibrissa	1.35% (1 of 74)

28 Images

View images

MicroCT E18.5

Embryo reconstruction

2 Images

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Human diseases caused by Memo1 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 Memo1 (0 diseases)
Human diseases predicted to be associated with Memo1 (982 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Memo1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Underdeveloped nasal alae, Non-midline cleft lip, Convex nasal ridge, Wide nasal bridge, Cleft al...	ORPHA:2007
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies	Thick upper lip vermilion, Wide nasal bridge, Thick lower lip vermilion, Short philtrum, Broad na...	OMIM:600093
Orofacial Cleft 11	Cleft palate, Cleft lip	OMIM:600625
Osteolysis Syndrome, Recessive	Knee flexion contracture, Elbow flexion contracture, Hypoplasia of the maxilla, Metacarpal osteol...	OMIM:259610
Maxillonasal Dysplasia	Abnormal nostril morphology, Mandibular prognathia, Depressed nasal ridge, Microdontia, Short nos...	ORPHA:1248
Frontonasal Dysplasia 1	Conductive hearing impairment, Hypoplastic frontal sinuses, Joint contracture of the hand, Wide n...	OMIM:136760
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Osteolysis, Broad nasal tip, Abnormality of the dentition	ORPHA:2776
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Convex nasal ridge, Osteoporosis of vertebrae, Short philtrum, Hypoplasia of the maxilla, Prematu...	OMIM:156510
Split-Hand/Foot Malformation 3	High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Abnormal ...	OMIM:246560
Lujan-Fryns Syndrome	Camptodactyly of finger, High palate, Micrognathia, Dental crowding, Short philtrum, Hypoplasia o...	ORPHA:776
Aarskog-Scott Syndrome	Camptodactyly of finger, Cleft upper lip, Long philtrum, Wide nasal bridge, Delayed eruption of t...	ORPHA:915
Cleft Lip/Palate	Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Agenesis ...	ORPHA:199306
Craniofacial-Deafness-Hand Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Sensorineural hearing impairment,...	ORPHA:1529
Stickler Syndrome Type 1	Sensorineural hearing impairment, Long philtrum, Short nose, Hypoplasia of the maxilla, Joint hyp...	ORPHA:90653
20P12.3 Microdeletion Syndrome	Long philtrum, Wide nasal bridge, Microtia, Wolff-Parkinson-White syndrome, Hypoplasia of the max...	ORPHA:261295
Mandibulofacial Dysostosis-Microcephaly Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, Low-set ears, Microtia, Underdevelo...	ORPHA:79113
8Q22.1 Microdeletion Syndrome	Abnormal antihelix morphology, Camptodactyly of finger, Abnormal nostril morphology, Long philtru...	ORPHA:178303
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
Dislocation Of The Hip-Dysmorphism Syndrome	Patent ductus arteriosus, Hearing abnormality, Depressed nasal ridge, Wide nasal bridge, Prominen...	ORPHA:2412
Holoprosencephaly 7	Macrotia, Hypoplasia of the premaxilla, Bilateral cleft lip, Wide nasal bridge, Absent nasal sept...	OMIM:610828
Mandibulofacial Dysostosis With Alopecia	Conductive hearing impairment, Low-set ears, Delayed eruption of primary teeth, Microtia, Wide na...	OMIM:616367
Distal Xq28 Microduplication Syndrome	Patent ductus arteriosus, High palate, Microtia, Short lingual frenulum, Thick lower lip vermilio...	ORPHA:293939
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, High palate, Hypoplasia of the maxilla, Prominent nasal bridge, Protrudi...	ORPHA:85279
Hypomandibular Faciocranial Dysostosis	Patent ductus arteriosus, Choanal stenosis, Coronal craniosynostosis, Micrognathia, Hypoplasia of...	OMIM:241310
Congenital Disorder Of Glycosylation, Type Iib	Retrognathia, Wide nose, Sensorineural hearing impairment, Recurrent fractures, High palate, Gene...	OMIM:606056
Palatopharyngeal Incompetence	Cleft palate, Velopharyngeal insufficiency	OMIM:167500
Multicentric Carpotarsal Osteolysis Syndrome	Micrognathia, Metatarsal osteolysis, Hypertension, Hypoplasia of the maxilla, Metacarpal osteolys...	OMIM:166300
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures	Widely-spaced incisors, Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Bul...	OMIM:618737
Microphthalmia With Limb Anomalies	Cleft upper lip, High palate, Long philtrum, Hypoplasia of the premaxilla, Micrognathia, Synostos...	ORPHA:1106
Crouzon Syndrome	Conductive hearing impairment, Narrow palate, Narrow internal auditory canal, Convex nasal ridge,...	ORPHA:207
Cleft Velum	Conductive hearing impairment, Cleft soft palate, Velopharyngeal insufficiency, Recurrent otitis ...	ORPHA:99772
Nager Syndrome	Non-midline cleft lip, Wide mouth, Microtia, Abnormal nasal morphology, Micrognathia, Hypoplasia ...	ORPHA:245
Neurofaciodigitorenal Syndrome	Abnormality of the philtrum, Mandibular prognathia, Hypoplasia of the premaxilla, Abnormal tragus...	ORPHA:2673
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel...	ORPHA:83451
Holoprosencephaly 9	Dental malocclusion, Agenesis of incisor, Macrotia, Cleft upper lip, Single naris, Hypoplasia of ...	OMIM:610829
Lowry-Maclean Syndrome	Midgut malrotation, Talon cusp, Retrognathia, Convex nasal ridge, Short nasal bridge, Delayed eru...	ORPHA:2409
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperactivity, Flexion contracture, High palate, Deep philtrum, Hyperextensibility of the finger ...	OMIM:309520
X-Linked Intellectual Disability, Porteous Type	Macrotia, Mandibular prognathia, Short philtrum, Hypoplasia of the maxilla, Bulbous nose, Cupped ear	ORPHA:93945
Holoprosencephaly-Postaxial Polydactyly Syndrome	Absent nares, Polyhydramnios, Hypoplasia of the premaxilla, Micrognathia, Anal atresia, Intestina...	ORPHA:2166
Andersen-Tawil Syndrome	Polymorphic ventricular tachycardia, Torsade de pointes, Wide nasal bridge, Micrognathia, Ventric...	ORPHA:37553
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Wide nasal bridge, Protruding ear	OMIM:618302
Burn-Mckeown Syndrome	Wide nasal bridge, Short nose, Bilateral choanal atresia, Abnormal palate morphology, Prominent n...	ORPHA:1200
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Mandibular prognathia, High palate, Prominent nasal bridge	OMIM:300676
Spinal muscular atrophy, type I, with congenital bone fractures	Flexion contracture, High palate, Multiple prenatal fractures, Osteopenia, Generalized edema	OMIM:271225
Distal Limb Deficiencies-Micrognathia Syndrome	Conductive hearing impairment, High palate, Sensorineural hearing impairment, Microdontia, Micror...	ORPHA:1307
Fetal Akinesia Deformation Sequence 4	Retrognathia, Polyhydramnios, High palate, Wide nasal bridge, Micrognathia, Camptodactyly, Low-se...	OMIM:618393
Marshall Syndrome	Thick upper lip vermilion, Sensorineural hearing impairment, High palate, Long philtrum, Hypoplas...	ORPHA:560
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Macrotia, Anal atresia, Mandibular prognathia	ORPHA:93950
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Macrotia, High palate, Flexion contracture, Wide nasal bridge, Short nose, Hypoplasia of the maxilla	OMIM:218000
Melanocytic Nevus Syndrome, Congenital	Long philtrum, Deep philtrum, Narrow nasal ridge, Prominence of the premaxilla, Short nose, Evert...	OMIM:137550
Van Maldergem Syndrome 1	Irregular dentition, Dental malocclusion, Conductive hearing impairment, High palate, Wide anteri...	OMIM:601390
Dysostosis, Stanescu Type	Convex nasal ridge, Massively thickened long bone cortices, Abnormal nasal morphology, Increased ...	ORPHA:1798
Kagami-Ogata Syndrome	Retrognathia, Polyhydramnios, Patent ductus arteriosus, Flexion contracture, Pulmonary arterial h...	OMIM:608149
Keipert Syndrome	Sensorineural hearing impairment, Hypoplasia of the maxilla, Depressed nasal bridge, Tented upper...	ORPHA:2662
Treacher-Collins Syndrome	Conductive hearing impairment, Wide nasal bridge, Micrognathia, Tooth agenesis, Abnormality of bo...	ORPHA:861
Acrodysostosis	Mandibular prognathia, Depressed nasal ridge, Wide nasal bridge, Delayed eruption of teeth, Epiph...	ORPHA:950
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Palpitations, Cleft palate, Prolonged QTc interval, Malar flattening, Bulbous nose,...	OMIM:170390
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Hyperactivity, Mandibular prognathia, Crowded maxillary incisors	ORPHA:397973
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Talon cusp, Synostosis of carpals/tarsals, Tooth malposition, Pr...	ORPHA:363417
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hyperextensibility at wrists, Macrotia, High palate, Long philtrum, Flexion contracture, Joint hy...	ORPHA:481152
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Long philtrum, Wide nasal bridge, Thin upper lip vermilion, Posteriorly rotated ears, Broad nasal...	OMIM:618147
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Conductive hearing impairment, Convex nasal ridge, Hypoplasia of the maxilla, Abnormal palate mor...	ORPHA:93262
Lymphatic Malformation 6	Polyhydramnios, Lymphedema, Micrognathia, Nonimmune hydrops fetalis, Pleural effusion, Edema, Cup...	OMIM:616843
Pfeiffer Syndrome	Choanal stenosis, Mandibular prognathia, High palate, Humeroradial synostosis, Coronal craniosyno...	OMIM:101600
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Conical tooth, Patent ductus arteriosus, Cleft upper lip, Conductive hearing impairment, Wide nas...	OMIM:106260
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol...	ORPHA:2972
Trigonocephaly 2	Depressed nasal bridge, Wide nasal bridge	OMIM:614485
Pde4D Haploinsufficiency Syndrome	Hypotension, Mandibular prognathia, Prominent nose, Long philtrum, Micrognathia, Prominent nasal ...	ORPHA:439822
Aarskog-Scott Syndrome	Cleft upper lip, Hyperextensibility of the finger joints, Wide nasal bridge, Hypodontia, Joint la...	OMIM:305400
Van Maldergem Syndrome 2	Irregular dentition, Conductive hearing impairment, Wide nasal bridge, Micrognathia, Hearing impa...	OMIM:615546
Microcephaly-Capillary Malformation Syndrome	Wide nose, Short nose, Hypoplasia of the maxilla, Hearing impairment, Cleft palate, Low-set ears	OMIM:614261
Saethre-Chotzen Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, Narrow palate, Narrow internal audi...	ORPHA:794
Pycnodysostosis	Convex nasal ridge, Micrognathia, Increased bone mineral density, Increased susceptibility to fra...	ORPHA:763
Craniolenticulosutural Dysplasia	Wide nose, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Prominent nasal bri...	ORPHA:50814
Dental Anomalies And Short Stature	Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Hypoplasia of the maxilla, ...	OMIM:601216
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteopenia	OMIM:608154
Fetal Akinesia Deformation Sequence 3	Micrognathia, Generalized edema	OMIM:618389
Monosomy 5P	High palate, Recurrent fractures, Wide nasal bridge, Microretrognathia, Joint hyperflexibility, A...	ORPHA:281
Mogs-Cdg	Retrognathia, Polyhydramnios, Wide nose, High palate, Sensorineural hearing impairment, Pulmonary...	ORPHA:79330
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Hyperactivity, Macrotia, High palate, Mandibular prognathia, Flexion contracture, Prominent nasal...	OMIM:300534
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome	Micrognathia, Mandibular condyle hypoplasia, Hypoplasia of the premaxilla	ORPHA:2975
Cohen Syndrome	Convex nasal ridge, Macrodontia of permanent maxillary central incisor, Prominent nasal bridge, M...	OMIM:216550
Trisomy 18-Like Syndrome	Low-set ears, Micrognathia, Wide nasal bridge, Abnormal pinna morphology	OMIM:601161
Carpenter Syndrome 1	Patent ductus arteriosus, Sagittal craniosynostosis, Conductive hearing impairment, Sensorineural...	OMIM:201000
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Tricuspid regurgitation, Long philtrum, Microretrognathia, Hypoplasia of the maxilla, Abnormal pi...	ORPHA:228396
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Micrognathia, Short nose, Thin upper lip vermilion, Anteverted nares, Low-set, posteriorly rotate...	ORPHA:2015
Cleidocranial Dysplasia 2	Wide anterior fontanel, Delayed eruption of primary teeth, Delayed ossification of carpal bones, ...	OMIM:620099
Apert Syndrome	Morphological abnormality of the semicircular canal, Conductive hearing impairment, Narrow palate...	ORPHA:87
Crouzon Syndrome	Sagittal craniosynostosis, Conductive hearing impairment, High palate, Mandibular prognathia, Cor...	OMIM:123500
Orofaciodigital Syndrome Xi	Cleft palate, Bulbous nose, Wide nasal bridge	OMIM:612913
Cerebrofacioarticular Syndrome	Irregular dentition, Conductive hearing impairment, Bilateral choanal atresia/stenosis, Wide nasa...	ORPHA:314679
Oculodentodigital Dysplasia, Autosomal Recessive	Underdeveloped nasal alae, Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary...	OMIM:257850
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Rapp-Hodgkin Syndrome	Conical tooth, Enamel hypoplasia, Cleft upper lip, Underdeveloped nasal alae, Microdontia, Veloph...	OMIM:129400
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Convex nasal ridge, Abnormal palate morphology, Mandibular prognathia	ORPHA:1540
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Restlessness	OMIM:300266
Coffin-Lowry Syndrome	Wide nose, High palate, Narrow palate, Sensorineural hearing impairment, Delayed eruption of teet...	ORPHA:192
Axenfeld-Rieger Syndrome	Wide nasal bridge, Microdontia, Hypodontia, Everted lower lip vermilion, Hypoplasia of the maxill...	ORPHA:782
Nablus Mask-Like Facial Syndrome	Small earlobe, Retrognathia, High palate, Long philtrum, Joint contracture of the hand, Wide nasa...	OMIM:608156
Martsolf Syndrome 1	Cardiomyopathy, High palate, Long philtrum, Finger joint hypermobility, Prominent antitragus, Mic...	OMIM:212720
Hydrops Fetalis	Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ca...	ORPHA:1041
Mohr Syndrome	Lobulated tongue, Conductive hearing impairment, High palate, Bifid tongue, Tongue nodules, Micro...	OMIM:252100
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita	OMIM:601809
Intellectual Disability, Wolff Type	Hypoplastic superior helix, Non-midline cleft lip, Camptodactyly of finger, Macrotia, Wide nasal ...	ORPHA:3080
Gorlin-Chaudhry-Moss Syndrome	Patent ductus arteriosus, Conductive hearing impairment, Coronal craniosynostosis, Oligodontia, H...	ORPHA:2095
Arthrogryposis, Distal, Type 1C	Retrognathia, Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, High ...	OMIM:619110
Intellectual Developmental Disorder, X-Linked 104	Retrognathia, Hyperactivity, High palate, Wide nasal bridge, Bifid nasal tip, Abnormal pinna morp...	OMIM:300983
Atelosteogenesis, Type Iii	Micrognathia, Hypoplasia of the maxilla, Depressed nasal bridge, Cleft palate, Malar flattening	OMIM:108721
Brachytelephalangic Chondrodysplasia Punctata	Patent ductus arteriosus, Epiphyseal stippling of toe phalanges, Nasal congestion, Stippling of t...	ORPHA:79345
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Wide nasal bridge, Short philtrum, Thin upper lip vermilion, Anteverted nares, Exaggerated cupid'...	OMIM:619311
Congenital Velopharyngeal Incompetence	Abnormal palate morphology, Velopharyngeal insufficiency	ORPHA:2291
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Prominent nose, Wide anterior fontanel, Wide nasal bridge, Abnormal cor...	OMIM:614886
Shprintzen-Goldberg Craniosynostosis Syndrome	Dental malocclusion, Conductive hearing impairment, High palate, Narrow palate, Wide anterior fon...	OMIM:182212
Craniodiaphyseal Dysplasia, Autosomal Dominant	Choanal stenosis, Mandibular prognathia, Wide nasal bridge, Craniofacial hyperostosis, Diaphyseal...	OMIM:122860
Cardioacrofacial Dysplasia 1	Conical tooth, Overhanging nasal tip, Short philtrum, Diastema, Hypoplasia of the maxilla, Access...	OMIM:619142
Bifid Uvula	Submucous cleft soft palate, Bifid uvula, Cleft lip	ORPHA:99771
Lymphatic Malformation 8	Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge...	OMIM:618773
Intellectual Developmental Disorder, Autosomal Recessive 44	Long philtrum, Bifid uvula, Depressed nasal bridge, Anteverted nares, Thin vermilion border	OMIM:615942
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Patent ductus arteriosus, Macrotia, Anotia, Microtia, Micrognathia, Hypoplasia of t...	OMIM:616462
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Wide nasal bridge, Everted lower lip vermilion, Broad nasal tip, Smooth philtrum, Thin vermilion ...	ORPHA:73273
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Generalized edema	OMIM:207731
Dystonia 31	Abnormal posturing	OMIM:619565
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Wide nasal bridge, Microdontia, Hypodontia, Short philtrum, Everted lower ...	OMIM:601499
Uvula, Bifid	Bifid uvula	OMIM:192100
Coffin-Siris Syndrome 11	High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Bifid uvula, Downturned corners o...	OMIM:618779
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Depressed nasal bridge, Low-set ears, Cupped ear	OMIM:167730
Van Den Ende-Gupta Syndrome	Convex nasal ridge, Micrognathia, Elbow flexion contracture, Everted lower lip vermilion, Cleft p...	OMIM:600920
Mosaic Trisomy 14	Camptodactyly of finger, High palate, Ectopic anus, Microtia, Wide mouth, Micrognathia, Wide nasa...	ORPHA:1703
Hypomandibular Faciocranial Dysostosis	Patent ductus arteriosus, Polyhydramnios, Choanal stenosis, Aplasia/Hypoplasia of the tongue, Bif...	ORPHA:1790
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Malabsorption, Edema, Abnormal intestine morphology, Intestinal obstruction, ...	OMIM:226300
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Polyhydramnios, Wide nasal bridge, Micrognathia, Recurrent sinusitis, Cleft palate, Gingival over...	OMIM:213980
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Thin bony cortex, Narrow palate, Abnormality of dental morphology, Hypo...	OMIM:277600
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Patent ductus arteriosus, Underdeveloped nasal alae, Abnormal oral cavity morphology, Wide nasal ...	ORPHA:1516
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Abnormality of the philtrum, Patent ductus arteriosus, High palate, Wide...	ORPHA:2863
Premature Aging Syndrome, Penttinen Type	Retrognathia, Convex nasal ridge, Sensorineural hearing impairment, Recurrent fractures, Aplasia ...	OMIM:601812
Multicentric Osteolysis, Nodulosis, And Arthropathy	Wrist flexion contracture, Thin bony cortex, Hip contracture, Delayed eruption of teeth, Microgna...	OMIM:259600
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Joint laxity, Dental crowding, Hyperplasia of the maxilla, Open bite	OMIM:613671
Intellectual Developmental Disorder, Autosomal Recessive 74	Hyperactivity, Mandibular prognathia, Narrow palate, Prominent nose, Wide nasal bridge	OMIM:617169
Cohen Syndrome	Aplasia/Hypoplasia of the tongue, Sensorineural hearing impairment, Aplasia/Hypoplasia of the ear...	ORPHA:193
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Fg Syndrome 4	Wide nasal bridge	OMIM:300422
Fetal Akinesia Deformation Sequence 2	Flexion contracture, High palate, Wide nasal bridge, Micrognathia, Tented upper lip vermilion, Cl...	OMIM:618388
Frontorhiny	Camptodactyly of finger, Bifid tongue, Midline nasal groove, Hypoplastic frontal sinuses, Hypopla...	ORPHA:391474
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate	OMIM:119300
Orofaciodigital Syndrome Xix	Underdeveloped nasal alae, Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongu...	OMIM:620107
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Retrognathia, Hyperactivity, High palate, Sensorineural hearing impairment, Wide nasal bridge, Th...	OMIM:618342
Teebi Hypertelorism Syndrome 2	High palate, Wide anterior fontanel, Delayed eruption of teeth, Microdontia, Short nose, Everted ...	OMIM:619736
3Mc Syndrome 2	Cleft upper lip, High palate, Limited elbow movement, Wide nasal bridge, Prominent nasal bridge, ...	OMIM:265050
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Underdeveloped nasal alae, Conductive hearing impairment, High palate, Wide nasal bridge, Microti...	OMIM:248910
Beemer Lethal Malformation Syndrome	Wide nasal bridge	OMIM:209970
Auriculocondylar Syndrome 2	Hypoplastic superior helix, Cleft at the superior portion of the pinna, Dental malocclusion, Low-...	OMIM:614669
Combined Oxidative Phosphorylation Deficiency 25	Long philtrum, Wide nasal bridge, Short nose, Depressed nasal bridge, Anteverted nares	OMIM:616430
Gorham-Stout Disease	Mandibular pain, Osteomyelitis, Abnormal bone ossification, Abnormal ethmoid bone morphology, Abn...	ORPHA:73
Myhre Syndrome	Mandibular prognathia, Gingival cleft, Abnormal lip morphology, Bifid uvula, Submucous cleft hard...	ORPHA:2588
Shprintzen-Goldberg Syndrome	Retrognathia, Camptodactyly of finger, Conductive hearing impairment, Craniosynostosis, Micrognat...	ORPHA:2462
Zimmermann-Laband Syndrome 3	Patent ductus arteriosus, Flexion contracture, High palate, Wide nasal bridge, Thick lower lip ve...	OMIM:618658
Elsahy-Waters Syndrome	Abnormality of the anus, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, Anal stenosis...	OMIM:211380
Catifa Syndrome	Long philtrum, Delayed eruption of teeth, Microtia, Camptodactyly, Attention deficit hyperactivit...	OMIM:618761
Greenberg Dysplasia	Polyhydramnios, Absent or minimally ossified vertebral bodies, Micrognathia, Epiphyseal stippling...	OMIM:215140
Neu-Laxova Syndrome 1	Patent ductus arteriosus, Polyhydramnios, Cleft upper lip, Macrotia, Wide nose, Depressed nasal r...	OMIM:256520
Lujo Hemorrhagic Fever	Hypotension, Cerebral edema, Stiff neck, Rhinitis, Myocarditis, Generalized edema, Shock, Periorb...	ORPHA:319213
German Syndrome	Camptodactyly of finger, Hearing abnormality, High palate, Wide nasal bridge, Lymphedema, Microgn...	ORPHA:2077
Barber-Say Syndrome	Delayed eruption of teeth, Micrognathia, Gingival overgrowth, Hearing impairment, Microtia, first...	OMIM:209885
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Underdeveloped nasal alae, Depressed nasal ridge, Deep philtrum, Wide nasal bridge, Micrognathia,...	ORPHA:77300
Branchioskeletogenital Syndrome	Unilateral cleft palate, Bifid uvula, Attached earlobe, Rootless teeth, Carious teeth, Premature ...	ORPHA:1299
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Intestinal malrotation, Generalized edema, Oligohydramnios	OMIM:249210
Otodental Syndrome	Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul...	ORPHA:2791
Ear-Patella-Short Stature Syndrome	Retrognathia, Camptodactyly of finger, Mandibular aplasia, Microtia, third degree, Anotia, Low-se...	ORPHA:2554
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Skraban-Deardorff Syndrome	Thick upper lip vermilion, Widely spaced teeth, Micrognathia, Hyperplasia of the maxilla, Recurre...	OMIM:617616
Meier-Gorlin Syndrome 5	Small earlobe, Long philtrum, Microtia, Micrognathia, Submucous cleft hard palate, Hypoplasia of ...	OMIM:613805
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla	OMIM:618383
Weill-Marchesani Syndrome 2	Patent ductus arteriosus, Thin bony cortex, High palate, Narrow palate, Pulmonic stenosis, Abnorm...	OMIM:608328
Carey-Fineman-Ziter Syndrome 2	Underdeveloped nasal alae, Long philtrum, Abnormal nasal septum morphology, Velopharyngeal insuff...	OMIM:619941
Geroderma Osteodysplasticum	Increased susceptibility to fractures, Mandibular prognathia, Recurrent fractures, Periodontitis,...	OMIM:231070
Acrodysostosis 1 With Or Without Hormone Resistance	Dental malocclusion, Mandibular prognathia, Delayed eruption of teeth, Hypodontia, Epiphyseal sti...	OMIM:101800
Intellectual Developmental Disorder, Autosomal Dominant 26	Hyperactivity, Wide mouth, Deep philtrum, Wide nasal bridge, Micrognathia, Prominent nasal tip, S...	OMIM:615834
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the frontal bone, Conductive he...	ORPHA:306542
Malan Syndrome	Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, S...	OMIM:614753
Distal Monosomy 19P13.3	Conductive hearing impairment, Sensorineural hearing impairment, Short philtrum, Hypoplasia of th...	ORPHA:96129
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Micrognathia, Pleural effusion, Recurrent upper respiratory...	OMIM:618183
Ring Chromosome 1 Syndrome	Anteverted nares, Downturned corners of mouth, Long philtrum, Wide nasal bridge	ORPHA:1437
Stickler Syndrome, Type Ii	Sensorineural hearing impairment, Pierre-Robin sequence, Micrognathia, Bifid uvula, Joint hypermo...	OMIM:604841
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	High palate, Pierre-Robin sequence, Glossoptosis, Wide nasal bridge, Micrognathia, Camptodactyly,...	OMIM:613604
Angelman Syndrome	Hyperactivity, Mandibular prognathia, Wide mouth, Widely spaced teeth, Macroglossia, Hypoplasia o...	OMIM:105830
Lamb-Shaffer Syndrome	Wide nasal bridge, Bulbous nose, Depressed nasal bridge, Dental crowding, Open mouth	OMIM:616803
Cowden Syndrome 5	High palate, Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Narrow mouth, Furrowed...	OMIM:615108
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Pulmonary edema, Pericardial effusion, T-wave inversion, ST segment depression, Macr...	OMIM:261740
Primary Intestinal Lymphangiectasia	Abnormality of small intestinal villus morphology, Pericardial effusion, Pleural effusion, Edema,...	ORPHA:90362
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Cofs Syndrome	Camptodactyly of finger, Sensorineural hearing impairment, Wide nasal bridge, Abnormal nasal morp...	ORPHA:1466
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Micrognathia, Wide nasal bridge	ORPHA:3207
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Retrognathia, Mandibular prognathia, Long philtrum, Wide mouth, Wide nasal bridge, Joint hypermob...	OMIM:619595
Mulibrey Nanism	Wide nose, Enamel hypoplasia, Dental malocclusion, Hydrops fetalis, Hypoplastic frontal sinuses, ...	OMIM:253250
Zttk Syndrome	Patent ductus arteriosus, Flexion contracture, High palate, Wide nasal bridge, Craniosynostosis, ...	OMIM:617140
Orofacial Cleft 13	Oligodontia, Cleft soft palate	OMIM:613857
Stickler Syndrome	Micrognathia, Tooth agenesis, Cleft palate, Glossoptosis, Hearing impairment, Reduced bone minera...	ORPHA:828
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nose, Abnormality of cartilage of external ear, Hypoplasia of the maxilla, Recurrent upper r...	ORPHA:2399
Lissencephaly, X-Linked, 2	High palate, Wide anterior fontanel, Long philtrum, Wide nasal bridge, Micrognathia, Thin upper l...	OMIM:300215
Distal Monosomy 10P	Hearing abnormality, Non-midline cleft lip, Macrotia, Convex nasal ridge, Ectopic anus, Wide nasa...	ORPHA:1580
Perlman Syndrome	Retrognathia, Wide nasal bridge, Broad alveolar ridges, Micrognathia, Abnormal upper lip morpholo...	ORPHA:2849
Autism Spectrum Disorder Due To Auts2 Deficiency	Retrognathia, Hyperactivity, Joint contracture of the hand, Wide nasal bridge, Micrognathia, Prom...	ORPHA:352490
Cowden Syndrome 6	High palate, Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Narrow mouth, Furrowed...	OMIM:615109
Goldberg-Shprintzen Syndrome	Wide nasal bridge, Aganglionic megacolon, Oligodontia, Short philtrum, Everted lower lip vermilio...	OMIM:609460
Orofaciodigital Syndrome Type 5	Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p...	ORPHA:2919
Mullegama-Klein-Martinez Syndrome	Sensorineural hearing impairment, Long philtrum, Wide nasal bridge, Microtia, Prominent nose, Mic...	OMIM:301022
Flat Face-Microstomia-Ear Anomaly Syndrome	Abnormal antihelix morphology, Camptodactyly of finger, Underdeveloped nasal alae, Macrotia, Long...	ORPHA:1968
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Abnormal auditory evoked potentials, Malar flattening, Sensorineural h...	OMIM:109120
Zechi-Ceide Syndrome	Wide nose, Conductive hearing impairment, Mandibular prognathia, Wide nasal bridge, Microtia, Oli...	ORPHA:217017
6Q25 Microdeletion Syndrome	Camptodactyly of finger, High palate, Sensorineural hearing impairment, Long philtrum, Wide nasal...	ORPHA:251056
Nephrotic Syndrome, Type 8	Edema, Sensorineural hearing impairment, Generalized edema	OMIM:615244
Velo-Facial-Skeletal Syndrome	High, narrow palate, Wide nasal bridge, Abnormality of the dentition	ORPHA:3424
Auriculocondylar Syndrome 1	Hypoplastic superior helix, Cleft at the superior portion of the pinna, Dental malocclusion, Low-...	OMIM:602483
Distal 17P13.1 Microdeletion Syndrome	Retrognathia, High palate, Generalized joint laxity, Limited elbow movement, Limitation of knee m...	ORPHA:319171
Craniofacial-Deafness-Hand Syndrome	Sensorineural hearing impairment, Narrow naris, Short nose, Hypoplasia of the maxilla, Depressed ...	OMIM:122880
Myhre Syndrome	Patent ductus arteriosus, Vertebral fusion, Mandibular prognathia, Microtia, Pericardial effusion...	OMIM:139210
Alazami Syndrome	Wide nose, Wide mouth, Wide nasal bridge, Widely spaced teeth, Short philtrum, Depressed nasal br...	OMIM:615071
3Q13 Microdeletion Syndrome	Anteverted nares, Long philtrum, Wide nasal bridge	ORPHA:1621
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy	Retrognathia, Wide nasal bridge	OMIM:619844
Rubinstein-Taybi Syndrome 1	Polyhydramnios, Flexion contracture, Convex nasal ridge, Wide nasal bridge, Micrognathia, Spina b...	OMIM:180849
Temple-Baraitser Syndrome	Wide nose, Macrotia, High palate, Everted upper lip vermilion, Long philtrum, Delayed eruption of...	ORPHA:420561
Cardiocranial Syndrome, Pfeiffer Type	Sagittal craniosynostosis, Plantar flexion contracture, Wide nasal bridge, Temporomandibular join...	ORPHA:2872
Meier-Gorlin Syndrome 4	Microtia, Thick lower lip vermilion, Micrognathia, Hypoplasia of the maxilla, Narrow mouth, Low-s...	OMIM:613804
Sweeney-Cox Syndrome	Polyhydramnios, Wide nasal bridge, Micrognathia, Uplifted earlobe, Cupped ear, Hearing impairment...	OMIM:617746
Meier-Gorlin Syndrome 1	Flexion contracture, High palate, Low-set ears, Incomplete partition of the cochlea type II, Micr...	OMIM:224690
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Cleft soft palate, Oligodontia of primary teeth	OMIM:216300
Kahrizi Syndrome	Bulbous nose, Wide nasal bridge, Thick vermilion border	OMIM:612713
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum	Alveolar process hypoplasia, Eruption failure, Delayed eruption of primary teeth, Multiple non-er...	OMIM:273050
Warburg Micro Syndrome 1	Macrotia, Wide nasal bridge, Micrognathia, Joint hypermobility, Narrow mouth, Thin vermilion bord...	OMIM:600118
Charlie M Syndrome	Non-midline cleft lip, Wide nasal bridge, Short philtrum, Narrow mouth, Tooth agenesis, Thin verm...	ORPHA:1406
Ovarian Hyperstimulation Syndrome	Hypovolemia, Pulmonary edema, Pleural effusion, Peripheral edema, Capillary leak, Ascites, Genera...	ORPHA:64739
Marshall-Smith Syndrome	Irregular dentition, Bilateral conductive hearing impairment, Microdontia, Cholesteatoma, Gingiva...	OMIM:602535
Meier-Gorlin Syndrome 3	Microtia, Micrognathia, Tracheomalacia, Microretrognathia, Hypoplasia of the maxilla, Absent ster...	OMIM:613803
Craniodiaphyseal Dysplasia	Conductive hearing impairment, Wide nasal bridge, Craniofacial hyperostosis, Depressed nasal brid...	ORPHA:1513
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Narrow palate, Exaggerated median tongue furrow, Hyperplasia of the maxilla, Mi...	ORPHA:313892
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Hydrops fetalis, Flexion contracture, Fractured radius, Wide nasal bridge, Microg...	OMIM:616897
Eisenmenger Syndrome	Pedal edema, Aortopulmonary window, Ventricular arrhythmia, Supraventricular arrhythmia, Angina p...	ORPHA:97214
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Sensorineural hearing impairment, Long philtrum, Micrognathia, Cleft palate, Malar flattening, Gl...	ORPHA:166100
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, Conductive hearing impairment, Wide nasal bridge, Delayed eruption of teeth, Microg...	ORPHA:2780
Frank-Ter Haar Syndrome	Camptodactyly of finger, Mandibular prognathia, Wide mouth, Delayed eruption of teeth, Wide nasal...	ORPHA:137834
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, Micrognathia, Supernumerary tooth, ...	ORPHA:3145
Hypohidrotic Ectodermal Dysplasia	Thick vermilion border, Abnormality of dental morphology, Hypoplasia of the maxilla, Tooth agenes...	ORPHA:238468
Rhizomelic Syndrome, Urbach Type	High palate, Wide anterior fontanel, Micrognathia, Limitation of joint mobility, Depressed nasal ...	ORPHA:3098
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Long philtrum, Wide nasal bridge, Wide mouth, Deep philtrum, Depressed nasal bridge, Anteverted n...	ORPHA:1825
Arthrogryposis, Distal, Type 2B1	Camptodactyly of finger, Distal arthrogryposis, Mandibular prognathia, High palate, Long philtrum...	OMIM:601680
Otopalatodigital Syndrome Type 1	Hypoplastic frontal sinuses, Wide nasal bridge, Increased bone mineral density, Oligodontia, Anod...	ORPHA:90650
Cowden Syndrome 1	High palate, Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Narrow mouth, Furrowed...	OMIM:158350
Robinow Syndrome, Autosomal Recessive 2	Long philtrum, Cleft soft palate, Wide nasal bridge, Short nose, Absent uvula, Broad nasal tip, A...	OMIM:618529
Zechi-Ceide Syndrome	Underdeveloped nasal alae, Wide nose, Cleft upper lip, Wide nasal bridge, Oligodontia, Cleft palate	OMIM:612916
Ohdo Syndrome	Long philtrum, Wide nasal bridge, Microtia, Widely spaced teeth, Micrognathia, Joint laxity, Shor...	OMIM:249620
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Short nose, Broad nasal tip, Tented upper lip vermilion, Cleft palate	OMIM:614207
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Dilated cardiomyopathy, Edema, Ventricular tachycardia, Cardiomyocyte h...	OMIM:605676
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Depressed nasal bridge, Wide nasal bridge	OMIM:609528
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	High palate, Long philtrum, Wide anterior fontanel, Abnormal bone ossification, Micrognathia, Inc...	ORPHA:163649
Hamel Cerebro-Palato-Cardiac Syndrome	Wide nasal bridge, Micrognathia, Narrow mouth, Malar flattening, Bulbous nose, Cupped ear, Cleft ...	ORPHA:93946
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Thin upper lip vermilion, Hyperplasia of the maxilla	OMIM:618587
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Camptodactyly of finger, Mandibular prognathia, Long philtrum, Abnormality of the ear, Hypoplasia...	ORPHA:1101
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Hyperactivity, Macrotia, High palate, Mandibular prognathia, Wide mouth, Widely spaced teeth, Wid...	ORPHA:369891
Trigonocephaly With Short Stature And Developmental Delay	Sagittal craniosynostosis, Convex nasal ridge, High palate, Wide nasal bridge, Broad alveolar rid...	OMIM:314320
Chondrodysplasia With Joint Dislocations, Gpapp Type	Capitate-hamate fusion, Wide nasal bridge, Coronal craniosynostosis, Micrognathia, Short nose, Na...	OMIM:614078
Antley-Bixler Syndrome	Camptodactyly of finger, Long philtrum, Recurrent fractures, Elbow ankylosis, Short nose, Narrow ...	ORPHA:83
Blepharophimosis-Impaired Intellectual Development Syndrome	Flexion contracture, Wide nasal bridge, Microdontia, Posteriorly rotated ears, Underdeveloped nas...	OMIM:619293
Saethre-Chotzen Syndrome	Convex nasal ridge, Narrow palate, Prominent crus of helix, Low-set ears, Microtia, Coronal crani...	OMIM:101400
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Underdeveloped nasal alae, Wide nose, Wide nasal bridge, Thin upper lip vermilion, Downturned cor...	ORPHA:521308
Chromosome 3Pter-P25 Deletion Syndrome	Retrognathia, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Anal atresia, Low hang...	OMIM:613792
Chromosome 16Q22 Deletion Syndrome	Sensorineural hearing impairment, High palate, Wide anterior fontanel, Wide nasal bridge, Microgn...	OMIM:614541
Deafness-Craniofacial Syndrome	Underdeveloped nasal alae, Bifid tongue, Wide nasal bridge, Short lingual frenulum, Short philtru...	ORPHA:3241
Burn-Mckeown Syndrome	Underdeveloped nasal alae, Cleft upper lip, Conductive hearing impairment, Mandibular prognathia,...	OMIM:608572
Cleft Palate With Or Without Ankyloglossia, X-Linked	Cleft palate, Ankyloglossia, Bifid uvula	OMIM:303400
Gand Syndrome	Wide nasal bridge, Wide mouth, Short philtrum, Thin upper lip vermilion, Broad nasal tip	OMIM:615074
Intellectual Developmental Disorder, Autosomal Dominant 23	Long philtrum, Wide nasal bridge, Micrognathia, Dental crowding, Thin upper lip vermilion, Downtu...	OMIM:615761
Spastic Paraplegia 47, Autosomal Recessive	Flexion contracture, High palate, Wide mouth, Wide nasal bridge, Short philtrum, Bulbous nose	OMIM:614066
Cleidocranial Dysplasia	Delayed eruption of teeth, Micrognathia, Spina bifida occulta, Cleft palate, Glossoptosis, Chroni...	ORPHA:1452
Craniosynostosis, Herrmann-Opitz Type	Abnormal antihelix morphology, Convex nasal ridge, Microtia, Micrognathia, Oligohydramnios, Short...	ORPHA:2145
Orofaciodigital Syndrome Xviii	Wide nasal bridge, Short philtrum, Diastema, Cleft lip, Accessory oral frenulum, Prominent nasal ...	OMIM:617927
Potocki-Shaffer Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Short philtrum, Short nose, Downturned corners of m...	OMIM:601224
Robinow Syndrome, Autosomal Dominant 2	Conductive hearing impairment, Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Ging...	OMIM:616331
Pentasomy X	Camptodactyly of finger, Patent ductus arteriosus, Wide nasal bridge, Micrognathia, Radioulnar sy...	ORPHA:11
Multiple Epiphyseal Dysplasia, Lowry Type	Knee flexion contracture, Fixed elbow flexion, Micrognathia, Broad nasal tip, Cleft hard palate, ...	ORPHA:166016
Lethal Omphalocele-Cleft Palate Syndrome	Cleft palate, Bifid uvula, Cleft soft palate, Unilateral cleft lip	ORPHA:2736
Lymphatic Malformation 7	Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec...	OMIM:617300
Larsen-Like Syndrome	Dental malocclusion, Conductive hearing impairment, Wide anterior fontanel, Absent nasal bridge, ...	OMIM:608545
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Wide nose, Mandibular prognathia, Cleft ala nasi, Narrow nasal base, Hypoplasia of the maxilla	ORPHA:3044
Dyskeratosis Congenita	Recurrent fractures, Periodontitis, Malabsorption, Hypodontia, Taurodontia, Esophageal stenosis, ...	ORPHA:1775
Craniosynostosis And Dental Anomalies	Wide nose, Dental malocclusion, Stapes ankylosis, Conductive hearing impairment, High palate, Nar...	OMIM:614188
Ectodermal Dysplasia 13, Hair/Tooth Type	Oligodontia, Depressed nasal bridge, Wide nasal bridge, Thick vermilion border	OMIM:617392
Trisomy 8Q	Camptodactyly of finger, Non-midline cleft lip, High palate, Bifid tongue, Wide nasal bridge, Mic...	ORPHA:1752
Heart And Brain Malformation Syndrome	Camptodactyly of finger, Polyhydramnios, Wide anterior fontanel, Wide nasal bridge, Thick lower l...	OMIM:616920
Rafiq Syndrome	Wide nose, Macrotia, Flexion contracture, Prominent nose, Wide nasal bridge, Short philtrum, Join...	OMIM:614202
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Cleft palate, Bifid uvula, Submucous cleft hard palate	ORPHA:2521
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Retrognathia, Long philtrum, Wide nasal bridge, Short philtrum, Everted lower lip vermilion, Larg...	OMIM:619556
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Wide nasal bridge, Broad alveolar ridges, Patchy sclerosis of finger phala...	OMIM:218400
Leigh Syndrome With Nephrotic Syndrome	Oligohydramnios, Generalized edema	ORPHA:255249
Monosomy 18P	Abnormal antihelix morphology, Macrotia, Wide nasal bridge, Lymphedema, Hypodontia, Micrognathia,...	ORPHA:1598
Arthrogryposis, Distal, Type 2A	Polyhydramnios, Wrist flexion contracture, Wide nasal bridge, Abnormal auditory evoked potentials...	OMIM:193700
Nephrotic Syndrome, Type 22	Generalized edema	OMIM:619155
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Abnormal mandible morphology, Arthrogryposis multiplex congenita, Natal tooth	OMIM:217150
Acrofacial Dysostosis Syndrome Of Rodriguez	High palate, Wide anterior fontanel, Wide nasal bridge, Prominent nose, Micrognathia, Short philt...	OMIM:201170
Biliary, Renal, Neurologic, And Skeletal Syndrome	Polyhydramnios, Cardiac arrest, Everted lower lip vermilion, Hearing impairment, Tricuspid regurg...	OMIM:619534
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Retrognathia, Underdeveloped antitragus, Prominent nose, Cleft soft palate, Prominent nasal tip, ...	ORPHA:293725
Cutis Laxa, Autosomal Recessive, Type Ib	Convex nasal ridge, High palate, Pulmonary insufficiency, Micrognathia, Prominence of the premaxi...	OMIM:614437
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hearing abnormality, Macrotia, Narrow palate, Aplasia/Hypoplasia of the earlobes, Hypertension, A...	ORPHA:1555
Rajab Interstitial Lung Disease With Brain Calcifications 1	Thin bony cortex, High palate, Joint laxity, Oligohydramnios, Intestinal malrotation, Rickets, Os...	OMIM:613658
Tonne-Kalscheuer Syndrome	Convex nasal ridge, Prominent nose, Wide nasal bridge, Widely spaced teeth, Micrognathia, Velopha...	OMIM:300978
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Patent ductus arteriosus, Long philtrum, Wide mouth, Wide nasal bridge, Micrognathia, Joint hyper...	OMIM:618659
Spastic Paraplegia 52, Autosomal Recessive	High palate, Prominent nose, Wide nasal bridge, Wide mouth, Short philtrum, Bulbous nose, Thick v...	OMIM:614067
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Polyhydramnios, Flexion contracture, Wide nasal bridge, Micrognathia, Epiphyseal stippling, Campt...	ORPHA:96334
Glass Syndrome	Conical tooth, Micrognathia, Camptodactyly, Generalized osteoporosis, Smooth philtrum, Cleft pala...	OMIM:612313
Brachydactyly-Preaxial Hallux Varus Syndrome	Micrognathia, Abnormal palate morphology, Radial club hand, Wide nasal bridge	ORPHA:1278
Trisomy 18P	Underdeveloped nasal alae, Wide nasal bridge, Micrognathia, Pyloric stenosis, Narrow mouth, Atten...	ORPHA:1715
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Patent ductus arteriosus, Macrotia, High palate, Long philtrum, Wide nasal bridge, ...	OMIM:617061
Treacher Collins Syndrome 3	Conductive hearing impairment, Microtia, Micrognathia, Hypoplasia of the zygomatic bone, Cleft pa...	OMIM:248390
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, High palate, Prominent nose, Wide nasal bridge, Depressed nasal bridge, An...	ORPHA:2180
Structural Heart Defects And Renal Anomalies Syndrome	Low-set ears, Systolic heart murmur, Truncus arteriosus, Generalized edema	OMIM:617478
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Retrognathia, Deep philtrum, Wide nasal bridge, Short philtrum, Joint laxity, Depressed nasal bri...	OMIM:620098
Cutis Laxa, Autosomal Recessive, Type Iie	Convex nasal ridge, High palate, Long philtrum, Wide nasal bridge, Thick lower lip vermilion, Pro...	OMIM:619451
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Cleft upper lip, Wide nasal bridge, Bifid uvula, Anteverted nares, Cleft palate, Bulbous nose	OMIM:300958
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Wide mouth, Wide nasal bridge, Macroglossia, ...	OMIM:618729
Oculofaciocardiodental Syndrome	Patent ductus arteriosus, Tooth malposition, Sensorineural hearing impairment, Long philtrum, Del...	ORPHA:2712
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Micrognathia, Short philtrum, Downturned corners of mouth, Decreased skull oss...	ORPHA:93267
Orofaciodigital Syndrome Xv	Lobulated tongue, Anteverted nares, Midline notch of upper alveolar ridge, Wide nasal bridge	OMIM:617127
Infection-Related Hemolytic Uremic Syndrome	Intestinal perforation, Septic arthritis, Pleural empyema, Intussusception, Hypertension, Edema, ...	ORPHA:544482
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Polyhydramnios, Wide nasal bridge, Micrognathia, Limitation of joint mob...	ORPHA:2774
Ablepharon Macrostomia Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Wide mouth, Microtia, Microdontia, Hypoplasia...	ORPHA:920
Bamforth-Lazarus Syndrome	Retrognathia, Cleft palate, Polyhydramnios, Choanal atresia	ORPHA:1226
Intellectual Developmental Disorder, Autosomal Recessive 45	Retrognathia, Wide nasal bridge, Anteverted nares, Bulbous nose, Thick vermilion border	OMIM:615979
Glycosylphosphatidylinositol Biosynthesis Defect 11	Tented upper lip vermilion, High palate, Macroglossia, Wide nasal bridge	OMIM:616025
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Mandibular prognathia, Attention deficit hyperactivity disorder, Wide nasal bridge, Prominent nose	ORPHA:137831
Macrocephaly-Developmental Delay Syndrome	Mandibular prognathia, High palate, Wide nasal bridge, Abnormal speech discrimination, Microretro...	ORPHA:397612
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Bifid uvula, High palate, Nasal polyposis, Median cleft lip	OMIM:155145
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Conical tooth, Underdeveloped nasal alae, Rhinitis, Everted upper lip vermilion, Microdontia, Hyp...	OMIM:305100
Filippi Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Hypodontia, Microdontia, Abnormality of dental morp...	OMIM:272440
Acrocraniofacial Dysostosis	Wide nose, Conductive hearing impairment, Sensorineural hearing impairment, Natal tooth, Prominen...	OMIM:201050
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Convex nasal ridge, High palate, Broad secondary alveolar ridge, Wide nasal bridge, Multiple sutu...	ORPHA:3369
Hellp Syndrome	Hypotension, Pulmonary edema, Cerebral hemorrhage, Internal hemorrhage, Pleural effusion, General...	ORPHA:244242
Craniolenticulosutural Dysplasia	High palate, Wide anterior fontanel, Wide mouth, Delayed eruption of teeth, Long philtrum, Wide n...	OMIM:607812
Braddock-Carey Syndrome 1	Enamel hypoplasia, Macrotia, Pierre-Robin sequence, Wide nasal bridge, Camptodactyly, Everted low...	OMIM:619980
Bartsocas-Papas Syndrome 1	Underdeveloped nasal alae, Cleft upper lip, Flexion contracture, Microtia, Micrognathia, Oral syn...	OMIM:263650
Secondary Intestinal Lymphangiectasia	Lymphedema, Intussusception, Malabsorption, Volvulus, Intestinal lymphedema, Pleural effusion, Ce...	ORPHA:90363
Radio-Tartaglia Syndrome	Conductive hearing impairment, Wide nasal bridge, Micrognathia, Prominent nasal tip, Dysphagia, H...	OMIM:619312
Hemophagocytic Lymphohistiocytosis, Familial, 2	Edema, Generalized edema	OMIM:603553
Blepharonasofacial Malformation Syndrome	Underdeveloped nasal alae, Non-midline cleft lip, Wide nose, Long philtrum, Wide nasal bridge, Ex...	ORPHA:1252
Trichorhinophalangeal Syndrome Type 2	Conductive hearing impairment, Long philtrum, Deep philtrum, Wide nasal bridge, Aplasia/Hypoplasi...	ORPHA:502
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Long philtrum, Wide nasal bridge, Micrognathia, Unilambdoid synostosis, Short nose, Anteverted na...	OMIM:618577
Boomerang Dysplasia	Underdeveloped nasal alae, Neonatal death, Wide nasal bridge, Hypoplastic nasal septum	OMIM:112310
Freeman-Sheldon Syndrome	Camptodactyly of finger, Polyhydramnios, Underdeveloped nasal alae, Long philtrum, Wide nasal bri...	ORPHA:2053
Pai Syndrome	Bifid uvula, Nasal polyposis, Abnormal oral frenulum morphology, Median cleft lip, Midline defect...	ORPHA:1993
Primrose Syndrome	Flexion contracture, Wide nasal bridge, Torus palatinus, Generalized osteoporosis, Hearing impair...	OMIM:259050
Lessel-Kreienkamp Syndrome	Patent ductus arteriosus, Dental malocclusion, Hypoplastic helices, Wide nasal bridge, Pulmonic s...	OMIM:619149
Split Lower Lip	Abnormal lower lip morphology, Narrow maxilla, Lower lip pit, Abnormality of the dentition	OMIM:183400
Snijders Blok-Campeau Syndrome	Enamel hypoplasia, High palate, Prominent nose, Wide nasal bridge, Widely spaced teeth, Taurodont...	OMIM:618205
Joubert Syndrome 10	Wide nasal bridge, Deep philtrum, Thick vermilion border	OMIM:300804
Oculomaxillofacial Dysostosis	Camptodactyly of finger, Underdeveloped nasal alae, Wide nasal bridge, Micrognathia, Median cleft...	ORPHA:1794
Peters-Plus Syndrome	Polyhydramnios, Short lingual frenulum, Micrognathia, Microtia, second degree, Thin vermilion bor...	OMIM:261540
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Wide nasal bridge, Joint hyperflexibility, Smooth philtrum, Hypoplasia of ...	ORPHA:1778
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Intellectual Developmental Disorder, Autosomal Dominant 61	Wide nasal bridge, Wide mouth, Thin upper lip vermilion, Smooth philtrum, Prominent nasal bridge	OMIM:618009
Diamond-Blackfan Anemia 8	Thick upper lip vermilion, Wide nasal bridge, Short nose	OMIM:612563
Johanson-Blizzard Syndrome	Underdeveloped nasal alae, Convex nasal ridge, Colonic diverticula, Sensorineural hearing impairm...	OMIM:243800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Patent ductus arteriosus after birth at term, Ischemic stroke, Wide nasal bridge, Bifid uvula, Su...	ORPHA:500150
Acitretin/Etretinate Embryopathy	Aplasia/Hypoplasia of the maxilla, Third degree atrioventricular block, High palate, Microtia, Mi...	ORPHA:40366
Baraitser-Winter Syndrome 1	Retrognathia, Patent ductus arteriosus, Cleft upper lip, Sensorineural hearing impairment, Long p...	OMIM:243310
Mucopolysaccharidosis, Type Ix	Depressed nasal bridge, Bifid uvula, Submucous cleft hard palate	OMIM:601492
Rhizomelic Chondrodysplasia Punctata, Type 2	Flexion contracture, High palate, Wide nasal bridge, Micrognathia, Epiphyseal stippling, Submucou...	OMIM:222765
Cardiomyopathy, Dilated, 1A	Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh...	OMIM:115200
Auriculocondylar Syndrome	Micrognathia, Bifid uvula, Question mark ear, Cleft palate, Hearing impairment, Glossoptosis, Cle...	ORPHA:137888
Megalocornea-Mental Retardation Syndrome	High palate, Long philtrum, Wide nasal bridge, Micrognathia, Bifid uvula, Large fleshy ears, Depr...	OMIM:249310
Congenital Heart Defects And Skeletal Malformations Syndrome	Narrow maxilla, High palate, Camptodactyly, Anal atresia, Joint hypermobility, Intestinal malrota...	OMIM:617602
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Short nose, Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal ...	OMIM:615716
Brachycephaly, Trichomegaly, And Developmental Delay	High palate, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, Supernumerary t...	OMIM:617412
Immunodeficiency 87 And Autoimmunity	Pulmonary arterial hypertension, Atrophic gastritis, Third degree atrioventricular block, Villous...	OMIM:619573
Hemophagocytic Lymphohistiocytosis, Familial, 1	Generalized edema	OMIM:267700
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Macrotia, Wide nasal bridge, Micrognathia, Short philtrum, Oligohydramnios, Thin vermilion border...	ORPHA:261304
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	High palate, Prominent nose, Wide nasal bridge, Joint laxity, Microretrognathia, Bulbous nose	OMIM:606220
Smith-Magenis Syndrome	Hyperactivity, Mandibular prognathia, Everted upper lip vermilion, Wide nasal bridge, Velopharyng...	OMIM:182290
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Triangular mouth, Wide nasal bridge, Delayed epiphyseal ossification	ORPHA:166024
Peroxisome Biogenesis Disorder 6A (Zellweger)	Low-set ears, Neonatal death, Epiphyseal stippling, Wide nasal bridge	OMIM:614870
Van Der Woude Syndrome 2	Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate	OMIM:606713
Pfeiffer Syndrome	Mandibular prognathia, High palate, Wide nasal bridge, Synostosis of carpal bones, Short philtrum...	ORPHA:710
Chromosome 9P Deletion Syndrome	Retrognathia, Patent ductus arteriosus, High palate, Narrow palate, Long philtrum, Deep philtrum,...	OMIM:158170
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Long philtrum, Deep philtrum, Wide nasal bridge, Abnormal nasal morphology, Micrognathia, Bifid u...	ORPHA:404440
Sheldon-Hall Syndrome	High palate, Round ear, Wide nasal bridge, Micrognathia, Joint stiffness, Tarsal synostosis, Prot...	ORPHA:1147
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pedal edema, Pulmonary embolism, Hypertension, Pleural effusion, Edema, Palpebral edema, Anasarca...	ORPHA:567546
Man1B1-Cdg	Wide nose, Macrotia, Prominent nose, Wide nasal bridge, Eclabion, Short philtrum, Joint hypermobi...	ORPHA:397941
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Cleft upper lip, Conductive hearing impairment, Abnormal nasopharynx morphology, Microtia, Select...	OMIM:129900
Intellectual Developmental Disorder, Autosomal Dominant 65	Thick upper lip vermilion, Macrotia, Long philtrum, Wide nasal bridge, Micrognathia, Short philtr...	OMIM:619320
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Wide nasal bridge, Hyperextensibility of the finger joints, Micrognathia, Cleft palate, Prominent...	OMIM:618356
Brunet-Wagner Neurodevelopmental Syndrome	Wide nasal bridge, Thick vermilion border	OMIM:619690
Omodysplasia 2	Long philtrum, Wide nasal bridge, Bilateral cleft lip, Micrognathia, Limited elbow flexion/extens...	OMIM:164745
Noonan Syndrome 13	High palate, Long philtrum, Wide mouth, Lymphedema, Widely spaced teeth, Microdontia, Micrognathi...	OMIM:619087
Multiple Pterygium Syndrome, X-Linked	Polyhydramnios, Cleft upper lip, Flexion contracture, Increased susceptibility to fractures, Vert...	OMIM:312150
Holoprosencephaly 2	Aplasia of the nasal bone, Proboscis, Absent nasal septal cartilage, Bifid uvula, Submucous cleft...	OMIM:157170
Trigonocephaly 1	Long philtrum, Wide nasal bridge, Short nose, Meckel diverticulum, High, narrow palate	OMIM:190440
Bencze Syndrome	Submucous cleft hard palate, Open bite	ORPHA:1241
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Retrognathia, Flexion contracture, High palate, Aplasia/Hypoplasia of the earlobes, Wide nasal br...	ORPHA:98791
Distal Monosomy 10Q	Patent ductus arteriosus, High palate, Prominent nose, Wide nasal bridge, Prominent nasal bridge,...	ORPHA:96148
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conductive hearing impairment, Wide nasal bridge, Delayed eruption of teeth, Pericardial effusion...	OMIM:235510
Tetrasomy 12P	Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Anal atresia, Short nose, Ev...	ORPHA:884
Isotretinoin Syndrome	Microtia, Micrognathia, Abnormality of the outer ear, Spina bifida occulta, Depressed nasal bridg...	ORPHA:2305
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Hypoplasia of the zygomatic bone, Long philtrum, Anteverted nares, Wide nose	ORPHA:3074
Sandestig-Stefanova Syndrome	Retrognathia, Angulated antihelix, High palate, Convex nasal ridge, Wide nasal bridge, Underdevel...	OMIM:618804
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Cleft upper lip, Abnormal nasopharynx morphology, Microtia, Selective tooth agenesis, Microdontia...	OMIM:604292
Simosa Craniofacial Syndrome	Underdeveloped nasal alae, Hearing abnormality, Long philtrum, Wide nasal bridge, Long nose, Narr...	OMIM:182150
Treacher Collins Syndrome 2	Retrognathia, Fusion of middle ear ossicles, Choanal stenosis, Conductive hearing impairment, Ano...	OMIM:613717
Mulibrey Nanism	Wide nasal bridge	ORPHA:2576
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Congenital Disorder Of Glycosylation, Type 2V	Retrognathia, Underdeveloped nasal alae, High palate, Low-set ears, Wide nasal bridge, Short phil...	OMIM:619493
X-Linked Mandibulofacial Dysostosis	Conductive hearing impairment, High palate, Sensorineural hearing impairment, Branchial anomaly, ...	ORPHA:1131
Rhizomelic Limb Shortening With Dysmorphic Features	Long philtrum, Hyperextensibility of the finger joints, Wide nasal bridge, Micrognathia, Limited ...	OMIM:618821
Castleman Disease	Anasarca, Restrictive cardiomyopathy, Intestinal obstruction, Myelofibrosis	ORPHA:160
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Retrognathia, Macrotia, High palate, Long philtrum, Flexion contracture, Wide nasal bridge, Thin ...	OMIM:617452
Ehlers-Danlos Syndrome, Classic Type, 1	Narrow maxilla, Hyperextensibility of the finger joints, Lop ear, Recurrent sinusitis, Joint hype...	OMIM:130000
Schilbach-Rott Syndrome	Prominent nose, Bifid uvula, Submucous cleft hard palate, Narrow mouth, Long nose	OMIM:164220
Beemer-Ertbruggen Syndrome	Wide nasal bridge, Deep philtrum, Micrognathia, Increased bone mineral density, Low-set, posterio...	ORPHA:1237
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:192445
Tetrasomy 5P	Pulmonary arterial hypertension, High palate, Long philtrum, Wide anterior fontanel, Wide nasal b...	ORPHA:3309
Wiedemann-Steiner Syndrome	Patent ductus arteriosus, Wide nose, Hyperactivity, High palate, Long philtrum, Wide nasal bridge...	OMIM:605130
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Cleft upper lip, Mandibular prognathia, Sensorineural hearing impairment, Wide nasal bridge, Agan...	OMIM:239300
Agnathia-Otocephaly Complex	Wide nose, Polyhydramnios, Conductive hearing impairment, Mandibular aplasia, Micrognathia, Trach...	OMIM:202650
Lissencephaly 4	Wide nasal bridge	OMIM:614019
Trisomy 12P	Abnormal antihelix morphology, Wide nasal bridge, Micrognathia, Anal atresia, Short nose, Everted...	ORPHA:1699
Intellectual Developmental Disorder, Autosomal Recessive 13	Cleft upper lip, Wide nasal bridge, Short philtrum, Downturned corners of mouth, Smooth philtrum	OMIM:613192
Intellectual Disability, Buenos-Aires Type	Dental malocclusion, Macrotia, High palate, Mandibular prognathia, Wide nasal bridge, Abnormality...	ORPHA:3079
Van Der Woude Syndrome	Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Usher Syndrome Type 1	Abnormal dental enamel morphology, Vestibular hypofunction, Sensorineural hearing impairment, Abn...	ORPHA:231169
Chromosome 10Q26 Deletion Syndrome	Patent ductus arteriosus, Hyperactivity, Convex nasal ridge, Sensorineural hearing impairment, Hi...	OMIM:609625
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Abnormal mandible morphology, Hypodontia, Submucous cleft hard palate, A...	ORPHA:3201
Koolen-De Vries Syndrome	Underdeveloped nasal alae, Vertebral fusion, Narrow palate, Wide nasal bridge, Prominent nasal br...	ORPHA:96169
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Underdeveloped nasal alae, High palate, Wide nasal bridge, Anteverted nares, Tented upper lip ver...	OMIM:616158
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, Camptodactyly, G...	OMIM:619148
Faciocardiorenal Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Hypodontia, Narrow mouth, Smooth philtrum, Cleft pa...	ORPHA:1973
Pancreatic insufficiency, combined exocrine	Anasarca, Congestive heart failure, Anal atresia	OMIM:260450
Intellectual Developmental Disorder, Autosomal Dominant 43	Hyperactivity, High palate, Wide nasal bridge, Microtia, Prominent nasal bridge, Short philtrum, ...	OMIM:616977
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Patent ductus arteriosus, Pierre-Robin sequence, Wide anterior fontanel, Micrognathia, Tracheomal...	OMIM:217980
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Polyhydramnios, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Wide nasal bridge,...	ORPHA:2759
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Patent ductus arteriosus, Sensorineural hearing impairment, High palate, Low-set ears, Long philt...	OMIM:220500
Chromosome 2P16.1-P15 Deletion Syndrome	Retrognathia, Macrotia, High palate, Sensorineural hearing impairment, Long philtrum, Joint contr...	OMIM:612513
Non-Syndromic Metopic Craniosynostosis	Wide nasal bridge	ORPHA:3366
Frontonasal Dysplasia 3	Underdeveloped nasal alae, Cleft palate, Wide nasal bridge	OMIM:613456
Juvenile Polyposis Syndrome	Juvenile colonic polyposis, Spontaneous, recurrent epistaxis, Juvenile gastrointestinal polyposis...	ORPHA:2929
Dandy-Walker Malformation With Postaxial Polydactyly	Patent ductus arteriosus, Wide nasal bridge, Microretrognathia, Depressed nasal bridge, Aortic va...	OMIM:220220
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Retrognathia, Polyhydramnios, Patent ductus arteriosus, High palate, Wide nasal bridge, Short nos...	OMIM:618005
Diamond-Blackfan Anemia 6	Retrognathia, Patent ductus arteriosus, Cleft upper lip, Micrognathia, Bifid uvula, Tracheomalaci...	OMIM:612561
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Patent ductus arteriosus, Macrotia, High palate, Wide nasal bridge, Micrognathia, Recurrent otiti...	ORPHA:3304
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Polyhydramnios, Conductive hearing impairment, Wide nasal bridge, Mic...	OMIM:300373
Pseudoleprechaunism Syndrome, Patterson Type	Macrotia, Prominent nose, Abnormal ethmoid bone morphology, Abnormal mandible condylar process mo...	ORPHA:2976
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Cleft upper lip, Macrotia, Wide nasal bridge, Bilateral cleft lip and palate, Hypodontia, Abnorma...	ORPHA:3253
Hajdu-Cheney Syndrome	Abnormal mandible morphology, Wide nasal bridge, Micrognathia, Osteolysis, Thin vermilion border,...	ORPHA:955
Smith-Magenis Syndrome	Cleft upper lip, Conductive hearing impairment, Mandibular prognathia, Delayed eruption of primar...	ORPHA:819
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Stapes ankylosis, Long philtrum, Wide nasal bridge, Velopharyngeal insufficiency, Submucous cleft...	OMIM:614701
Acrocallosal Syndrome	Everted upper lip vermilion, Wide nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, T...	OMIM:200990
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Macrotia, Mandibular prognathia, Convex nasal ridge, Carious teeth, Narrow mouth, Downturned corn...	ORPHA:1110
Neonatal Adrenoleukodystrophy	Sensorineural hearing impairment, Wide anterior fontanel, Wide nasal bridge, Abnormal palate morp...	ORPHA:44
Craniofrontonasal Dysplasia	Camptodactyly of finger, Sensorineural hearing impairment, High palate, Wide nasal bridge, Depres...	ORPHA:1520
Oculoskeletodental Syndrome	Retrognathia, Enamel hypoplasia, Conductive hearing impairment, Sensorineural hearing impairment,...	ORPHA:557003
Congenital Disorder Of Glycosylation, Type Id	Macrotia, High palate, Flexion contracture, Villous atrophy, Joint contracture of the hand, Wide ...	OMIM:601110
Floating-Harbor Syndrome	Conductive hearing impairment, Wide mouth, Microdontia, Oligodontia, Cochlear malformation, Short...	ORPHA:2044
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Thin upper lip vermilion, Anosmia, Hypoplasia of the zyg...	ORPHA:1295
Suleiman-El-Hattab Syndrome	High palate, Long philtrum, Wide mouth, Wide nasal bridge, Thick lower lip vermilion, Microretrog...	OMIM:618950
Ring Chromosome 6 Syndrome	Wide nasal bridge	ORPHA:1448
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nose, High palate, Wide nasal bridge, Low insertion of columella, Depressed nasal bridge, Br...	OMIM:619995
Frontometaphyseal Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Wide nasal bridge, Delayed eruption of teeth,...	OMIM:305620
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Long philtrum, Wide mouth, Wide nasal bridge, Short philtrum, Downturned corners of mouth, Narrow...	OMIM:617333
Opitz Gbbb Syndrome	Cleft upper lip, High palate, Wide anterior fontanel, Low-set ears, Wide nasal bridge, Anal atres...	OMIM:300000
15Q Overgrowth Syndrome	Wide nasal bridge, Micrognathia, Bifid uvula, Contracture of the proximal interphalangeal joint o...	ORPHA:314585
Zellweger Syndrome	High palate, Wide anterior fontanel, Sensorineural hearing impairment, Wide nasal bridge, Malabso...	ORPHA:912
Histidinuria Due To A Renal Tubular Defect	Thin upper lip vermilion, Wide nasal bridge, Long philtrum, Smooth philtrum	OMIM:235830
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Flexion contracture, High palate, Long philtrum, Wide nasal bridge, Short nose, Broad columella, ...	OMIM:619383
Intellectual Developmental Disorder, Autosomal Dominant 58	High palate, Wide mouth, Wide nasal bridge, Submucous cleft hard palate, Protruding tongue, Broad...	OMIM:618106
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Enamel hypoplasia, Tracheobronchomalacia, Pierre-Robin sequence, Hypodontia, Oligodontia, Dental ...	OMIM:619184
14Q24.1Q24.3 Microdeletion Syndrome	Long philtrum, Truncus arteriosus, Wide nasal bridge, Joint laxity, Short nose, Intestinal malrot...	ORPHA:401935
Cri-Du-Chat Syndrome	Hyperactivity, High palate, Wide nasal bridge, Thick lower lip vermilion, Bifid uvula, Short phil...	OMIM:123450
Multiple Pterygium Syndrome, Lethal Type	Polyhydramnios, Increased susceptibility to fractures, Flexion contracture, Vertebral fusion, Dep...	OMIM:253290
C Syndrome	Patent ductus arteriosus, High palate, Wide mouth, Wide nasal bridge, Micrognathia, Short nose, T...	OMIM:211750
1Q41Q42 Microdeletion Syndrome	Underdeveloped nasal alae, Submucous cleft hard palate, Depressed nasal bridge, Broad nasal tip, ...	ORPHA:250999
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Knee flexion contracture, Enlarged naris, Hip contracture, Long philtrum, Wide nasal bridge, Micr...	OMIM:616266
Acrofacial Dysostosis, Catania Type	Microretrognathia, Short nose, Spina bifida occulta, Carious teeth, Abnormal palate morphology, T...	ORPHA:1786
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Micrognathia, Nonimmune hydrops fetalis, Decreased calvarial ossification, Cleft pa...	OMIM:618265
Raine Syndrome	Microdontia, Micrognathia, Increased bone mineral density, Cleft palate, Gingival overgrowth, Art...	OMIM:259775
Spondylometaphyseal Dysplasia, X-Linked	Knee flexion contracture, Hip contracture, Wide nasal bridge, Hyperextensibility of the finger jo...	OMIM:313420
Fibrous Dysplasia Of Bone	Thin bony cortex, Abnormal mandible morphology, Abnormality of the sphenoid sinus, Osteomalacia, ...	ORPHA:249
Meckel Syndrome 12	Wide nasal bridge, Micrognathia, Bifid uvula, Oligohydramnios, Anteverted nares, Low-set ears, Ar...	OMIM:616258
Toluene Embryopathy	Micrognathia, Short nose, Thin vermilion border, Smooth philtrum, Hypoplasia of the zygomatic bon...	ORPHA:1920
Hepatocellular Carcinoma	Hypotension, Pedal edema, Internal hemorrhage, Portal hypertension, Anasarca, Esophageal varix, A...	ORPHA:88673
Achondrogenesis, Type Ii	Polyhydramnios, Hydrops fetalis, Long philtrum, Absent vertebral body mineralization, Microretrog...	OMIM:200610
Chromosome 1P35 Deletion Syndrome	High palate, Sensorineural hearing impairment, Wide nasal bridge, Micrognathia, Joint hypermobili...	OMIM:617930
Microphthalmia, Syndromic 12	Retrognathia, Micrognathia, Broad nasal tip, Wide nasal bridge	OMIM:615524
Cantu Syndrome	Thick upper lip vermilion, Patent ductus arteriosus, Long philtrum, Wide nasal bridge, Lymphedema...	OMIM:239850
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Long philtrum, Wide mouth, Microtia, Wide nasal bridge, Micrognathia, Oligodontia, Recurrent otit...	OMIM:602562
Autosomal Dominant Hyper-Ige Syndrome	Gingivitis, Osteomyelitis, Recurrent fractures, Wide nasal bridge, Delayed eruption of teeth, Ost...	ORPHA:2314
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Choanal stenosis, Pierre-Robin sequence, Cleft soft palate	OMIM:620183
Pontocerebellar Hypoplasia Type 10	Underdeveloped nasal alae, Wide nasal bridge	ORPHA:411493
Orofaciodigital Syndrome Type 1	Lip pit, Wide nasal bridge, Micrognathia, Median cleft lip, Odontogenic neoplasm, Cleft palate, H...	ORPHA:2750
9P13 Microdeletion Syndrome	High palate, Wide nasal bridge, Abnormality of cartilage of external ear, Recurrent otitis media,...	ORPHA:324313
Intellectual Developmental Disorder, Autosomal Recessive 70	Retrognathia, Attention deficit hyperactivity disorder, Wide nasal bridge	OMIM:618402
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Retrognathia, Patent ductus arteriosus, High palate, Sensorineural hearing impairment, Low-set ea...	ORPHA:52055
Rubinstein-Taybi Syndrome	Polyhydramnios, Convex nasal ridge, High palate, Wide nasal bridge, Micrognathia, Attention defic...	ORPHA:783
Glutamine Deficiency, Congenital	Flexion contracture, Wide nasal bridge, Camptodactyly, Short nose, Depressed nasal bridge, Thin v...	OMIM:610015
Aicardi Syndrome	Cleft upper lip, Block vertebrae, Malabsorption, Short philtrum, Prominence of the premaxilla, In...	ORPHA:50
Congenital Disorder Of Glycosylation, Type Iig	Conductive hearing impairment, High palate, Low-set ears, Pierre-Robin sequence, Microtia, Long p...	OMIM:611209
Ring Chromosome 10 Syndrome	Abnormal antihelix morphology, Long philtrum, Wide nasal bridge, Aganglionic megacolon, Micrognat...	ORPHA:1438
Pmm2-Cdg	Multiple joint contractures, Pericardial effusion, Angina pectoris, Pericarditis, Hypertrophic ca...	ORPHA:79318
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Polyhydramnios, Microdontia, Short nose, Depressed nasal bridge, Hypoplasia of the ...	ORPHA:1812
Intellectual Developmental Disorder, Autosomal Dominant 39	Wide nasal base, Wide nasal bridge, Wide mouth	OMIM:616521
Hall-Riggs Syndrome	Prominent nose, Wide mouth, Delayed eruption of teeth, Wide nasal bridge, Downturned corners of m...	ORPHA:2107
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Perianal abscess, Long philtrum, Wide mouth, Pericardial effusion, Wide nasal bridge, Upturned co...	OMIM:614684
Intellectual Developmental Disorder With Autism And Macrocephaly	Wide nose, Open mouth, Long philtrum, Wide nasal bridge	OMIM:615032
8Q12 Microduplication Syndrome	Everted lower lip vermilion, Narrow mouth, Long philtrum, Wide nasal bridge	ORPHA:228399
Peroxisomal Acyl-Coa Oxidase Deficiency	Wide nasal bridge, Depressed nasal bridge, Bilateral sensorineural hearing impairment, Dysphagia,...	OMIM:264470
Chromosome 15Q26-Qter Deletion Syndrome	Low-set ears, Micrognathia, Wide nasal bridge	OMIM:612626
Vertebral Hypersegmentation And Orofacial Anomalies	Micrognathia, Submucous cleft hard palate, Darwin tubercle of helix, Joint hypermobility, Antever...	OMIM:619122
Hamamy Syndrome	Dental malocclusion, Enamel hypoplasia, Sensorineural hearing impairment, High palate, Long philt...	OMIM:611174
Desmosterolosis	Patent ductus arteriosus, Joint contracture of the hand, Micrognathia, Gingival fibromatosis, Art...	OMIM:602398
20Q11.2 Microduplication Syndrome	Retrognathia, Limited elbow extension, Wide nasal bridge, Microtia, Abnormal nasal bridge morphol...	ORPHA:363659
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small earlobe, Cleft mandible, Underdeveloped nasal alae, Pierre-Robin sequence, Prominence of th...	ORPHA:364577
Prolidase Deficiency	Depressed nasal ridge, Micrognathia, Abnormality of the middle ear, Depressed nasal bridge, Hypop...	ORPHA:742
Zaki Syndrome	Patent ductus arteriosus, Wide nose, High palate, Wide mouth, Wide nasal bridge, Micrognathia, Sh...	OMIM:619648
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thick upper lip vermilion, Polyhydramnios, Pica, Wide nasal bridge, Short lingual frenulum, Micro...	OMIM:617360
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Polyhydramnios, Mandibular prognathia, Wide nasal bridge, Microtia, Aganglionic megacolon, Short ...	OMIM:613603
Birk-Barel Syndrome	High palate, Bifid uvula, Short philtrum, Submucous cleft soft palate, Tented upper lip vermilion	OMIM:612292
Intellectual Developmental Disorder, Autosomal Recessive 5	Thick upper lip vermilion, Underdeveloped nasal alae, Prominent nose, Wide nasal bridge, Short ph...	OMIM:611091
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Malar flattening, Depressed nasal bridge, Short nose	ORPHA:2835
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon...	OMIM:313500
Waardenburg Syndrome, Type 3	Camptodactyly of finger, Mandibular prognathia, Sensorineural hearing impairment, Joint contractu...	OMIM:148820
Axenfeld-Rieger Syndrome, Type 1	Wide nasal bridge, Hypodontia, Microdontia, Oligodontia, Short philtrum, Anal atresia, Hypoplasia...	OMIM:180500
Robinow Syndrome, Autosomal Dominant 3	Patent ductus arteriosus, Dental malocclusion, Bifid tongue, Low-set ears, Long philtrum, Wide na...	OMIM:616894
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Pleural effusion, Edema, Anasarca, Dysphagia	OMIM:254900
Megalocornea-Intellectual Disability Syndrome	Sensorineural hearing impairment, High palate, Wide nasal bridge, Micrognathia, Short philtrum, E...	ORPHA:2479
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Knee flexion contracture, Enlarged naris, Hip contracture, Wide nasal bridge, Micrognathia, Elbow...	ORPHA:371364
Developmental And Epileptic Encephalopathy 89	Flexion contracture, Long philtrum, Wide nasal bridge, Microretrognathia, Thin upper lip vermilio...	OMIM:619124
Phelan-Mcdermid Syndrome	Patent ductus arteriosus, Dental malocclusion, Macrotia, High palate, Long philtrum, Wide nasal b...	OMIM:606232
Dpagt1-Cdg	Flexion contracture, Camptodactyly, Intracranial hemorrhage, Hearing impairment, Prolonged QT int...	ORPHA:86309
Hydrolethalus	Retrognathia, Polyhydramnios, Gingival cleft, Micrognathia, Bifid uvula, Submucous cleft hard pal...	ORPHA:2189
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Open mouth, Wide nasal bridge	OMIM:600906
Waardenburg Syndrome Type 1	Underdeveloped nasal alae, Cleft upper lip, Mandibular prognathia, Wide nasal bridge, Aganglionic...	ORPHA:894
Woods Syndrome	Thin vermilion border, Low hanging columella, Wide nasal bridge	OMIM:615236
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Long philtrum, Deep philtrum, Wide nasal bridge, Microretrognathia, Short nose, Downturned corner...	OMIM:618571
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Depressed nasal bridge, High palate, Wide nasal bridge	OMIM:615760
W Syndrome	Agenesis of maxillary central incisor, Upper lip pit, Submucous cleft hard palate, Depressed nasa...	ORPHA:2804
Bainbridge-Ropers Syndrome	Polyhydramnios, Wide nasal bridge, Micrognathia, Everted lower lip vermilion, Contracture of the ...	OMIM:615485
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Patent ductus arteriosus, Sensorineural hearing impairment, High palate, Long philtrum, Deep phil...	ORPHA:397709
Singleton-Merten Syndrome 1	Osteolytic defects of the phalanges of the hand, Eruption failure, Congestive heart failure, Pleu...	OMIM:182250
Bohring-Opitz Syndrome	Retrognathia, Polyhydramnios, Cleft upper lip, Flexion contracture, Narrow palate, Wide nasal bri...	OMIM:605039
Macs Syndrome	Irregular dentition, Recurrent aphthous stomatitis, High palate, Long philtrum, Wide nasal bridge...	OMIM:613075
Developmental And Epileptic Encephalopathy 80	High palate, Low-set ears, Long philtrum, Wide mouth, Wide nasal bridge, Micrognathia, Tented upp...	OMIM:618580
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Absent nares, Polyhydramnios, Aplasia/Hypoplasia involving the nose, Narrow internal auditory can...	ORPHA:990
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Patent ductus arteriosus, Prominent nose, Long philtrum, Wide nasal bridge, Short philtrum, Under...	OMIM:618316
2P15P16.1 Microdeletion Syndrome	Retrognathia, Polyhydramnios, Camptodactyly of finger, High palate, Long philtrum, Wide nasal bri...	ORPHA:261349
Pilodental Dysplasia With Refractive Errors	Conical incisor, Hypodontia, Wide nasal bridge	OMIM:262020
Amish Lethal Microcephaly	Cleft soft palate, Micrognathia, Limitation of joint mobility, Decreased skull ossification, Oste...	ORPHA:99742
Takenouchi-Kosaki Syndrome	Patent ductus arteriosus, Dental malocclusion, Sensorineural hearing impairment, Long philtrum, W...	OMIM:616737
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, High palate, Telangiectasia, Wide nasal bridge, Aganglionic megacolon, Mic...	ORPHA:247262
Peroxisome Biogenesis Disorder 2B	Anteverted nares, High palate, Wide nasal bridge, High, narrow palate	OMIM:202370
Ohdo Syndrome, X-Linked	High palate, Long philtrum, Wide nasal bridge, Microtia, Widely spaced teeth, Microdontia, Microg...	OMIM:300895
Severe Oculo-Renal-Cerebellar Syndrome	Macrotia, Mandibular prognathia, Wide mouth, Malar prominence, Large earlobe, Joint hyperflexibil...	ORPHA:2715
Cerebrocostomandibular Syndrome	Patent ductus arteriosus, Polyhydramnios, Conductive hearing impairment, High palate, Cleft soft ...	OMIM:117650
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Patent ductus arteriosus, Polyhydramnios, Conductive hearing impairment, Sensorineural hearing im...	OMIM:300990
Osteogenesis Imperfecta, Type Xviii	Thin bony cortex, Recurrent fractures, Wide nasal bridge, Micrognathia, Joint laxity, Joint hyper...	OMIM:617952
Cryoglobulinemia, Familial Mixed	Anasarca, Hypertension	OMIM:123550
Craniometaphyseal Dysplasia	Conductive hearing impairment, Sensorineural hearing impairment, Wide nasal bridge, Craniofacial ...	ORPHA:1522
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Polyhydramnios, Wide nasal bridge, Micrognathia, Depressed nasal bridge, Protruding ear	ORPHA:2256
Branchiootic Syndrome 1	Retrognathia, Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of ...	OMIM:602588
Tarp Syndrome	High palate, Low-set ears, Wide nasal bridge, Tongue nodules, Microtia, Micrognathia, Prominent a...	OMIM:311900
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, High palate, Wide nasal bridge, Micrognathia, Short nose, External ear ...	ORPHA:251071
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Polyhydramnios, Wide nasal bridge, Micrognathia, Hypertrophic cardiomyopathy, Narrow mouth, Antev...	OMIM:618810
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Underdeveloped nasal alae, High palate, Pierre-Robin sequence, Long philtrum, Exaggerated median ...	OMIM:608670
Vitamin D-Dependent Rickets, Type 2A	Enamel hypoplasia, Thin bony cortex, Recurrent fractures, Wide nasal bridge, Delayed eruption of ...	OMIM:277440
Waardenburg-Shah Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Aganglionic megacolon, Abnormal intestine morpholog...	ORPHA:897
Benign Samaritan Congenital Myopathy	Narrow mouth, Wide nasal bridge	ORPHA:324581
Otopalatodigital Syndrome, Type I	Conductive hearing impairment, Capitate-hamate fusion, Selective tooth agenesis, Wide nasal bridg...	OMIM:311300
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Anteverted nares, High palate, Wide nasal bridge	ORPHA:50812
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Polyhydramnios, High palate, Wide nasal bridge, Pericardial effusion, Micrognathia, Downturned co...	OMIM:620070
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Cleft soft palate, Wide nasal bridge, ...	ORPHA:2282
Oculodentodigital Dysplasia	Conductive hearing impairment, Selective tooth agenesis, Microdontia, Taurodontia, Cleft palate, ...	OMIM:164200
Craniofacial Microsomia	Transverse facial cleft, Patent ductus arteriosus, Cleft upper lip, Conductive hearing impairment...	OMIM:164210
46,Xy Sex Reversal 4	Distal symphalangism, High palate, Sensorineural hearing impairment, Long philtrum, Microtia, Pro...	OMIM:154230
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Dental malocclusion, Sensorineural hearing impairment, Wide mouth, Wide nasal bridge, Thick lower...	ORPHA:85321
Lissencephaly Syndrome, Norman-Roberts Type	Wide nose, Wide nasal bridge, Microretrognathia, Dysphagia, Low-set ears	ORPHA:89844
8P Inverted Duplication/Deletion Syndrome	Retrognathia, Macrotia, Contractures of the large joints, Long philtrum, Wide mouth, Wide nasal b...	ORPHA:96092
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Anasarca, Tracheomalacia, Ascites, Osteoporosis	OMIM:203700
Chromosome 8Q21.11 Deletion Syndrome	Underdeveloped nasal alae, Sensorineural hearing impairment, High palate, Wide nasal bridge, Micr...	OMIM:614230
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Wide nose, Esophageal atresia, Fused cervical vertebrae, Submucous cleft hard palat...	OMIM:619227
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Wide nasal b...	OMIM:618067
Chromosome 5P13 Duplication Syndrome	High palate, Wide nasal bridge, Short philtrum, Downturned corners of mouth, Low hanging columell...	OMIM:613174
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, High palate, Wide nasal bridge, Lymphedema, Ascites, Micrognathia, Thin upper lip...	OMIM:235255
Aicardi Syndrome	Cleft upper lip, Block vertebrae, Prominence of the premaxilla, Anteverted nares, Cleft palate, H...	OMIM:304050
Joubert Syndrome 37	Wide nose, High palate, Wide nasal bridge, Joint hypermobility, Anteverted nares, Low-set ears, P...	OMIM:619185
Teebi Hypertelorism Syndrome 1	Sagittal craniosynostosis, Long philtrum, Natal tooth, Wide nasal bridge, Coronal craniosynostosi...	OMIM:145420
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Non-midline cleft lip, Wide nasal bridge, Delayed eruption of teeth, Widely spaced...	ORPHA:1071
Cog5-Cdg	Retrognathia, Camptodactyly of finger, Sensorineural hearing impairment, High palate, Joint contr...	ORPHA:263487
X-Linked Intellectual Disability, Najm Type	Macrotia, Sensorineural hearing impairment, Long philtrum, Wide nasal bridge, Micrognathia	ORPHA:163937
Developmental Delay With Or Without Dysmorphic Facies And Autism	Patent ductus arteriosus, Pulmonary arterial hypertension, Wide mouth, Wide nasal bridge, Microgn...	OMIM:618454
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Patent ductus arteriosus, Prominent nose, Low-set ears, Long philtrum, Wide nasal bridge, Bifid u...	OMIM:300968
Ritscher-Schinzel Syndrome 4	Macrotia, High palate, Narrow palate, Wide mouth, Wide nasal bridge, Short philtrum, Joint hyperm...	OMIM:619435
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Patent ductus arteriosus, Lobulated tongue, Macrotia, Bifid tongue, Prominent nose, Natal tooth, ...	OMIM:616300
Hengel-Maroofian-Schols Syndrome	Tooth malposition, Wide nasal bridge, Widely spaced teeth, Short philtrum, Everted lower lip verm...	OMIM:619641
Loeys-Dietz Syndrome 5	Retrognathia, Congenital finger flexion contractures, Overhanging nasal tip, High palate, Cleft s...	OMIM:615582
Robinow Syndrome, Autosomal Dominant 1	Bifid tongue, Wide nasal bridge, Delayed eruption of teeth, Short lingual frenulum, Micrognathia,...	OMIM:180700
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Macrotia, High palate, Wide nasal bridge, Widely spaced teeth, Tented upper lip vermilion, Depres...	OMIM:300260
Orofaciodigital Syndrome Type 4	Camptodactyly of finger, Conductive hearing impairment, Microtia, third degree, Micrognathia, Bif...	ORPHA:2753
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Hypoplasia of the frontal bone, Cleft upper lip, Bifid uvula, Bifid no...	OMIM:229400
Hennekam Syndrome	Camptodactyly of finger, Conductive hearing impairment, Wide nasal bridge, Delayed eruption of te...	ORPHA:2136
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrops fetalis, Flexion contracture, Wide nasal bridge, Micrognathia, Limitation of joint mobili...	ORPHA:1865
Branchiootorenal Syndrome 1	Conductive hearing impairment, High palate, Sensorineural hearing impairment, Incomplete partitio...	OMIM:113650
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Smooth philtrum, Esophageal atresia	OMIM:614526
Al-Gazali-Bakalinova Syndrome	Wide nasal bridge, Lymphedema, Depressed nasal bridge, Triangular mouth, Low-set ears, Malar flat...	OMIM:607131
Faciocardiomelic Syndrome	Dental malocclusion, Thin bony cortex, Long philtrum, Wide mouth, Micrognathia, Hyperplasia of th...	OMIM:612731
Micro Syndrome	Macrotia, High palate, Wide nasal bridge, Micrognathia, Short philtrum, Short nose, Anteverted na...	ORPHA:2510
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Incisor macrodontia, Underdeveloped nasal alae, High palate, Wide nasal bridge, External ear malf...	ORPHA:438216
Crane-Heise Syndrome	Micrognathia, Joint stiffness, Depressed nasal bridge, Decreased skull ossification, Anteverted n...	ORPHA:1512
Branchiogenic Deafness Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os...	ORPHA:50815
Bor Syndrome	Retrognathia, Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlea...	ORPHA:107
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Micrognathia, Short philtrum, Oligohydramnios, Tra...	ORPHA:958
Chromosome 19Q13.11 Deletion Syndrome, Distal	Retrognathia, Underdeveloped nasal alae, Macrotia, Wide nasal bridge, Hypodontia, Micrognathia, S...	OMIM:613026
Zimmermann-Laband Syndrome 1	Patent ductus arteriosus, Cardiomyopathy, Mandibular prognathia, High palate, Long philtrum, Wide...	OMIM:135500
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose	OMIM:611936
Mosaic Trisomy 1	Short upper lip, Polyhydramnios, Camptodactyly of finger, Wide mouth, Wide nasal bridge, Thick lo...	ORPHA:1692
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Retrognathia, Patent ductus arteriosus, Underdeveloped nasal alae, Sensorineural hearing impairme...	ORPHA:2637
Microcephaly-Micromelia Syndrome	Wide nose, Convex nasal ridge, Humeroradial synostosis, Micrognathia, Oligohydramnios, Narrow mou...	OMIM:251230
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Thick upper lip vermilion, Long philtrum, Wide mouth, Wide nasal bridge, Thick lower lip vermilio...	ORPHA:163654
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Polyhydramnios, Mandibular prognathia, Long philtrum, Wide nasal bridge, Absent antihelix, Micror...	OMIM:300998
Al Kaissi Syndrome	Long philtrum, Wide nasal bridge, Macrodontia, Thin upper lip vermilion, Depressed nasal bridge, ...	OMIM:617694
Rauch-Steindl Syndrome	Hyperactivity, Long philtrum, Prominent crus of helix, Wide nasal bridge, Micrognathia, Short phi...	OMIM:619695
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Thin upper lip vermilion, Downturned corners of mouth, Wide nasal bridge	ORPHA:352530
Insulin-Like Growth Factor I, Resistance To	Retrognathia, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Agitation, Thin upper ...	OMIM:270450
Miller-Dieker Lissencephaly Syndrome	Thick upper lip vermilion, Polyhydramnios, Joint contracture of the hand, Delayed eruption of tee...	OMIM:247200
Momo Syndrome	Dental malocclusion, High palate, Long philtrum, Wide nasal bridge, Delayed eruption of teeth, Th...	OMIM:157980
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Retrognathia, Knee flexion contracture, Sensorineural hearing impairment, Prominent crus of helix...	OMIM:619194
Craniosynostosis 2	Cleft soft palate, Supernumerary tooth, Unicoronal synostosis, Bicoronal synostosis, Craniosynost...	OMIM:604757
Orofaciodigital Syndrome X	Retrognathia, Cleft palate, Depressed nasal bridge, Coalescence of tarsal bones	OMIM:165590
3C Syndrome	Ectopic anus, Wide nasal bridge, Micrognathia, Pulmonic stenosis, Anal atresia, Short nose, Intes...	ORPHA:7
Robinow Syndrome, Autosomal Recessive 1	Bifid tongue, Wide nasal bridge, Micrognathia, Absent uvula, Gingival overgrowth, Posteriorly rot...	OMIM:268310
Gorlin Syndrome	Vertebral fusion, Mandibular prognathia, Wide nasal bridge, Carious teeth, Abnormality of the sen...	ORPHA:377
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Wide nasal bridge, Widely spaced teeth, Depressed nasal bridge, Carious teeth, Low-set ears, Thic...	OMIM:617102
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Wide mouth, Thick lower lip vermilion, Submucous cleft hard palate, Depressed nasal bridge, Bulbo...	OMIM:619103
Hennekam-Beemer Syndrome	Camptodactyly of finger, Wide nose, Hypotension, Conductive hearing impairment, High palate, Wide...	ORPHA:2135
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Short philtrum, Short nose, Anteverted nares, Open mouth	OMIM:618437
Branchiootic Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Lip pit, Micrognathia, Abnormali...	ORPHA:52429
Aminoacylase 1 Deficiency	Bradycardia, Hyperactivity, Sensorineural hearing impairment, Wide nasal bridge	OMIM:609924
Dominant Beta-Thalassemia	High-output congestive heart failure, Malar prominence, Hyperplasia of the maxilla, Dilated cardi...	ORPHA:231226
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Anal atresia, Wide nasal bridge	OMIM:309620
Cardiofaciocutaneous Syndrome	Macrotia, High palate, Long philtrum, Lymphedema, Pulmonic stenosis, Submucous cleft hard palate,...	ORPHA:1340
Congenital Disorder Of Glycosylation, Type Ii	Sensorineural hearing impairment, High palate, Wide nasal bridge, Joint laxity, Low-set ears	OMIM:607906
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Thick upper lip vermilion, Polyhydramnios, Wide mouth, Wide nasal bridge, Thick lower lip vermili...	OMIM:611087
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Wide anterior fontanel, Ectopic anus, Wide mouth, Coronal craniosynostosis, Thick vermilion borde...	ORPHA:85199
Isolated Childhood Apraxia Of Speech	Submucous cleft hard palate, High, narrow palate	ORPHA:209908
Focal Facial Dermal Dysplasia Type Iii	Depressed nasal ridge, Wide nasal bridge, Short philtrum, Anal atresia, Downturned corners of mouth	ORPHA:1807
Hartsfield Syndrome	Wide nose, Hypoplasia of the frontal bone, Cleft upper lip, Median cleft lip, Cleft palate, Crani...	OMIM:615465
Short Syndrome	Abnormal mandible morphology, Sensorineural hearing impairment, Wide nasal bridge, Microdontia, A...	ORPHA:3163
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Wide nasal bridge	ORPHA:2229
Verheij Syndrome	Thin upper lip vermilion, Long philtrum, Wide nasal bridge, Short nose	OMIM:615583
Pyruvate Dehydrogenase E1-Alpha Deficiency	Anteverted nares, Long philtrum, Wide nasal bridge, Flared nostrils	OMIM:312170
Orofaciodigital Syndrome Type 10	Retrognathia, Long philtrum, Cleft soft palate, Micrognathia, Metatarsal synostosis, Depressed na...	ORPHA:2756
Sclerosteosis 1	Dental malocclusion, Mandibular prognathia, Facial palsy secondary to cranial hyperostosis, Wide ...	OMIM:269500
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Cleft soft palate, Wide nasal bridge, Microdontia, Broad columella, Smooth philtrum, Cleft palate...	OMIM:619950
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Absent nares, Single naris, Hyposmia, Bifid uvula, Submucous cleft hard palate, Failure of erupti...	ORPHA:2250
Chromosome 18P Deletion Syndrome	Macrotia, High palate, Depressed nasal ridge, Wide nasal bridge, Micrognathia, Anteverted nares, ...	OMIM:146390
Witteveen-Kolk Syndrome	Polyhydramnios, Wide nasal bridge, Smooth philtrum, Uplifted earlobe, Contracture of the distal i...	OMIM:613406
Restrictive Dermopathy 1	Polyhydramnios, Flexion contracture, Convex nasal ridge, Micrognathia, Ankylosis, Choanal atresia...	OMIM:275210
Fryns Syndrome	Polyhydramnios, Non-midline cleft lip, High palate, Long philtrum, Ectopic anus, Wide mouth, Wide...	ORPHA:2059
Chromosome 16P13.3 Duplication Syndrome	Wide nasal bridge, Microdontia, Micrognathia, Bifid uvula, Camptodactyly, Smooth philtrum, Poster...	OMIM:613458
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Thick lower lip vermilion, Mandibular prognathia, Anosmia, Wide nasal bridge	OMIM:210745
Huntington Disease-Like 1	Abnormal posturing	ORPHA:157941
Autosomal Dominant Spondylocostal Dysostosis	Cleft palate, Anteverted nares, Wide nasal bridge	ORPHA:1797
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Gingivitis, Flexion contracture, Wide nasal bridge, Narrow mouth, Osteopenia, Joint hyperflexibil...	ORPHA:75496
Frontometaphyseal Dysplasia	Camptodactyly of finger, Wrist flexion contracture, Conductive hearing impairment, Wide nasal bri...	ORPHA:1826
Cleidocranial Dysplasia 1	Enamel hypoplasia, Increased susceptibility to fractures, High palate, Narrow palate, Delayed eru...	OMIM:119600
Sialuria	Wide nasal bridge, Joint hypermobility, Thin upper lip vermilion, Attention deficit hyperactivity...	ORPHA:3166
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Mandibular prognathia, Wide nasal bridge, Lymphedema, Nonimmune hydrops fetalis, Facial telangiec...	OMIM:137940
Charge Syndrome	Polyhydramnios, Delayed eruption of teeth, Abnormal soft palate morphology, Abnormality of bone m...	ORPHA:138
Peroxisome Biogenesis Disorder 3A (Zellweger)	Low-set ears, Epiphyseal stippling, Wide nasal bridge	OMIM:614859
Filippi Syndrome	Underdeveloped nasal alae, Wide nose, Wide nasal bridge, Short philtrum, Broad columella, Thin ve...	ORPHA:3255
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Patent ductus arteriosus, Restrictive cardiomyopathy, Long philtrum, Wide nasal bridge, Craniosyn...	ORPHA:369837
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Wide anterior fontanel, Natal tooth, Microtia, Absent nasal bridge, Micrognathia, Anal atresia, E...	OMIM:617925
Frontonasal Dysplasia 2	Conical tooth, Aplasia of the nasal bone, Depressed nasal ridge, Wide nasal bridge, Widely spaced...	OMIM:613451
Aminopterin/Methotrexate Embryofetopathy	Non-midline cleft lip, Mandibular prognathia, Wide nasal bridge, Micrognathia, Low-set, posterior...	ORPHA:1908
Ayme-Gripp Syndrome	Mandibular prognathia, Sensorineural hearing impairment, Long philtrum, Wide nasal bridge, Microt...	OMIM:601088
Spinocerebellar Ataxia 47	High palate, Wide nasal bridge	OMIM:617931
Short Syndrome	Underdeveloped nasal alae, Dental malocclusion, Macrotia, Sensorineural hearing impairment, Wide ...	OMIM:269880
Distal Monosomy 9P	Abnormal antihelix morphology, Aplasia/Hypoplasia of the earlobes, Microtia, Wide nasal bridge, S...	ORPHA:1642
Multiple Metaphyseal Dysplasia	Depressed nasal ridge, Wide nasal bridge	ORPHA:93430
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Jejunal atresia, Wide nasal bridge, Hypodontia, Mi...	ORPHA:989
Genitopalatocardiac Syndrome	Non-midline cleft lip, Wide nasal bridge, Micrognathia, Downturned corners of mouth, Cleft palate...	ORPHA:2075
Holoprosencephaly	Abnormal antihelix morphology, Median cleft lip, Tooth agenesis, Depressed nasal tip, Intestinal ...	ORPHA:2162
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Conductive hearing impairment, Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow,...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Conductive hearing impairment, Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow,...	ORPHA:352665
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Bifid uvula, Submucous cleft hard palate	OMIM:619239
Holoprosencephaly 3	Single naris, Proboscis, Bifid uvula, Solitary median maxillary central incisor, Short columella,...	OMIM:142945
Ogden Syndrome	Thick upper lip vermilion, Torsade de pointes, Everted upper lip vermilion, Wide nasal bridge, Mi...	OMIM:300855
Opitz Gbbb Syndrome	Patent ductus arteriosus, High palate, Low-set ears, Ectopic anus, Long philtrum, Natal tooth, An...	ORPHA:2745
Okur-Chung Neurodevelopmental Syndrome	Polyhydramnios, High palate, Wide nasal bridge, Micrognathia, Joint hypermobility, Thin upper lip...	OMIM:617062
Stickler Syndrome, Type I	Pierre-Robin sequence, Bifid uvula, Submucous cleft hard palate, Depressed nasal bridge, Antevert...	OMIM:108300
49,Xxxyy Syndrome	Mandibular prognathia, Wide nasal bridge, Micrognathia, Recurrent upper respiratory tract infecti...	ORPHA:261534
Myoclonic-Astatic Epilepsy	Long philtrum, Wide mouth, Wide nasal bridge, Thick lower lip vermilion, Thin upper lip vermilion...	ORPHA:1942
Branchio-Oculo-Facial Syndrome	Non-midline cleft lip, High palate, Upper lip pit, Deep philtrum, Wide nasal bridge, Microdontia,...	ORPHA:1297
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Underdeveloped nasal alae, Aplasia of the inner ear, Sensorineural hearing impairm...	ORPHA:90024
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Underdeveloped nasal alae, High palate, Branchial anomaly, Wide nasal bridge, Oligodontia, Bifid ...	ORPHA:453499
Beta-Thalassemia Major	High-output congestive heart failure, Malar prominence, Hyperplasia of the maxilla, Dilated cardi...	ORPHA:231214
Schinzel-Giedion Syndrome	Infantile sensorineural hearing impairment, Delayed eruption of teeth, Micrognathia, Camptodactyl...	ORPHA:798
Familial Benign Copper Deficiency	Wide nasal bridge, Deep philtrum	ORPHA:1551
Baraitser-Winter Cerebrofrontofacial Syndrome	Retrognathia, Wide nose, Prominent nose, Long philtrum, Wide mouth, Wide nasal bridge, Transient ...	ORPHA:2995
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Left unicoronal synostosis, Wide nasal bridge, Aganglionic megacolon, Anal atresia, Short nose, T...	OMIM:614749
Teebi-Shaltout Syndrome	Small earlobe, Underdeveloped nasal alae, Hypoplastic helices, Prominent palatine ridges, Wide mo...	OMIM:272950
Histidinuria-Renal Tubular Defect Syndrome	Long philtrum, Wide nasal bridge	ORPHA:2158
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Micrognathia, Narrow mouth, Malar flattening, Neonatal death, Posteriorly rota...	OMIM:224410
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Lower-limb joint contracture, Everted upper lip vermilion, Widely spaced teeth, Micrognathia, Pro...	ORPHA:513456
3Q29 Microduplication Syndrome	High palate, Ectopic anus, Deep philtrum, Wide nasal bridge, Camptodactyly of toe, Hearing impair...	ORPHA:251038
Frontometaphyseal Dysplasia 2	Conductive hearing impairment, Wide nasal bridge, Bifid uvula, Camptodactyly, Elbow contracture, ...	OMIM:617137
Pontocerebellar Hypoplasia, Type 7	Thick upper lip vermilion, Macrotia, High palate, Deep philtrum, Wide nasal bridge, Micrognathia,...	OMIM:614969
Stromme Syndrome	Jejunal atresia, Wide mouth, Wide nasal bridge, Micrognathia, Intestinal malrotation, Short colum...	OMIM:243605
Chromosome 6Q24-Q25 Deletion Syndrome	High palate, Long philtrum, Submucous cleft hard palate, Thin upper lip vermilion, Anteriorly pla...	OMIM:612863
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Long philtrum, Wide nasal bridge, Hypertension, Microretrognathia, Oligohydramnios, Hypertrophic ...	OMIM:614052
Mucopolysaccharidosis Type 2	Wide nose, Cardiomyopathy, Hyperactivity, Conductive hearing impairment, Otosclerosis, Sensorineu...	ORPHA:580
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Abnormal antihelix morphology, Neoplasm of the tongue, Polyhydramnios, Retrognathia, Camptodactyl...	ORPHA:3047
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Macrotia, Sensorineural hearing impairment, High palate, Long philtrum, Wide nasal bridge, Microg...	OMIM:300749
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	High palate, Wide anterior fontanel, Wide mouth, Widely spaced teeth, Wide nasal bridge, Microdon...	OMIM:266920
Native American Myopathy	Conductive hearing impairment, High palate, Micrognathia, Bifid uvula, Camptodactyly, Joint laxit...	ORPHA:168572
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Wide nasal bridge	OMIM:610127
Aneurysm Of Sinus Of Valsalva	Bacterial endocarditis, Heart murmur, Congestive heart failure, Aortic regurgitation, Edema	ORPHA:1054
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing	OMIM:614857
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing	ORPHA:216866
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Anotia, Microtia, Micrognathia, Aplasia/Hypoplasia of the inner ear, An...	ORPHA:2306
Orofaciodigital Syndrome Type 2	Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ...	ORPHA:2751
Perlman Syndrome	Polyhydramnios, Everted upper lip vermilion, Wide nasal bridge, Volvulus, Micrognathia, Open mout...	OMIM:267000
Pyruvate Dehydrogenase Deficiency	Osteolytic defects of the middle phalanx of the 4th toe, High palate, Long philtrum, Wide nasal b...	ORPHA:765
Tolchin-Le Caignec Syndrome	Macrotia, High palate, Sensorineural hearing impairment, Wide nasal bridge, Prominent nose, Micro...	OMIM:618971
Buratti-Harel Syndrome	High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate	OMIM:619314
Marbach-Schaaf Neurodevelopmental Syndrome	Submucous cleft hard palate, Thin upper lip vermilion, Downturned corners of mouth, Depressed nas...	OMIM:619680
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Flexion contracture, Recurrent fractures, Wide nasal bridge, Micrognathia, Bifid uvula, Radioulna...	OMIM:130070
Feingold Syndrome 1	Patent ductus arteriosus, Polyhydramnios, High palate, Jejunal atresia, Wide nasal bridge, Esopha...	OMIM:164280
Spondylometaphyseal Dysplasia, Schmidt Type	Polyhydramnios, Stenosis of the external auditory canal, Micrognathia, Cleft soft palate	ORPHA:93316
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Flexion contracture, High palate, Wide nasal bridge, Camptodactyly, Thin upper lip vermilion, Lon...	OMIM:617146
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Bifid tongue, Ectopic anus, Wide nasal bridge, Micrognathia, Gingival ov...	ORPHA:1507
Cranioectodermal Dysplasia 2	Retrognathia, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, High palate, Wide nasal ...	OMIM:613610
Orofaciodigital Syndrome I	Underdeveloped nasal alae, Lobulated tongue, Cleft upper lip, Enamel hypoplasia, High palate, Bif...	OMIM:311200
Isolated Exencephaly	Polyhydramnios, Hypoplasia of the frontal bone, Depressed nasal bridge, Low-set ears, Abnormal fa...	ORPHA:563612
Arthrogryposis Multiplex Congenita 5	Polyhydramnios, Macrotia, Flexion contracture, Long philtrum, Wide nasal bridge, Micrognathia, El...	OMIM:618947
Hurler Syndrome	Cardiomyopathy, Flexion contracture, Wide nasal bridge, Microdontia, Macroglossia, Recurrent otit...	OMIM:607014
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Thick upper lip vermilion, Flexion contracture, Long philtrum, Wide mouth, Microtia, Thick lower ...	OMIM:611717
Coffin-Siris Syndrome 4	Patent ductus arteriosus, Wide nose, Everted upper lip vermilion, Long philtrum, Wide mouth, Thic...	OMIM:614609
Lymphangiectasia, Pulmonary, Congenital	Polyhydramnios, Pedal edema, Wide nasal bridge, Nonimmune hydrops fetalis, Pleural effusion, Edem...	OMIM:265300
Sialuria	High palate, Long philtrum, Wide nasal bridge, Macroglossia, Thin upper lip vermilion, Attention ...	OMIM:269921
Cardiac Valvular Dysplasia 1	Patent foramen ovale, Hydrops fetalis, Ventricular septal defect, Valvular pulmonary stenosis, Mi...	OMIM:212093
Dubowitz Syndrome	Hyperactivity, High palate, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, Velophary...	OMIM:223370
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Micrognathia, Macrotia, Gastritis, Wide nasal bridge	ORPHA:2575
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Sensorineural hearing impairment, Long philtrum, Wide nasal bridge, Pulmon...	ORPHA:488632
17Q24.2 Microdeletion Syndrome	Patent ductus arteriosus after birth at term, Otosclerosis, Wide nasal bridge, Microtia, Microgna...	ORPHA:529962
Retinitis Pigmentosa	Anteverted nares, Wide nasal bridge	ORPHA:791
Goldberg-Shprintzen Megacolon Syndrome	Cleft palate, Aganglionic megacolon, Wide nasal bridge	ORPHA:66629
Cree Mental Retardation Syndrome	Low-set ears, Micrognathia, Cleft soft palate, Posteriorly rotated ears	OMIM:606851
Duane Retraction Syndrome	Narrow internal auditory canal, Sensorineural hearing impairment, Wide nasal bridge, Micrognathia...	ORPHA:233
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Patent ductus arteriosus, Dental malocclusion, Flexion contracture, Long philtrum, Wide mouth, Ly...	ORPHA:487796
Restrictive Dermopathy 2	Convex nasal ridge, Hypoplastic facial bones, Rectal prolapse, Microretrognathia	OMIM:619793
Helsmoortel-Van Der Aa Syndrome	Wide nasal bridge, Microdontia, Everted lower lip vermilion, Smooth philtrum, Dysphagia, Cupped e...	OMIM:615873
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Wide nasal bridge, Micrognathia, Narrow nasal bridge, Depressed nasal bridge, Attention deficit h...	OMIM:620073
Leukocyte Adhesion Deficiency Type Ii	Small earlobe, Conductive hearing impairment, Narrow palate, Mandibular prognathia, Deep philtrum...	ORPHA:99843
Arthrogryposis, Distal, Type 3	High palate, Cleft palate, Bifid uvula, Submucous cleft hard palate	OMIM:114300
Ring Chromosome 7 Syndrome	Small earlobe, Mandibular prognathia, Prominent crus of helix, Wide nasal bridge, Narrow naris, H...	ORPHA:1449
Progressive Non-Infectious Anterior Vertebral Fusion	Wide mouth, Wide nasal bridge, Micrognathia, Short philtrum, Depressed nasal bridge, Thin vermili...	ORPHA:2062
Maternal Phenylketonuria	Hyperactivity, High palate, Long philtrum, Hypoplastic helices, Esophageal atresia, Wide nasal br...	ORPHA:2209
Autosomal Dominant Robinow Syndrome	Camptodactyly of finger, Bifid tongue, Wide nasal bridge, Micrognathia, Gingival overgrowth, Hear...	ORPHA:3107
Lathosterolosis	Thick upper lip vermilion, Conductive hearing impairment, High palate, Long philtrum, Wide nasal ...	OMIM:607330
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Conductive hearing impairment, Sensorineural hearing impairment, High palate, Long philtrum, Micr...	OMIM:618500
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Immunodeficiency 59 And Hypoglycemia	Recurrent aphthous stomatitis, High palate, Wide nasal bridge, Malabsorption, Micrognathia, Recur...	OMIM:233600
Metaphyseal Acroscyphodysplasia	Depressed nasal ridge, Wide nasal bridge	ORPHA:1240
Noonan Syndrome 6	Polyhydramnios, Sensorineural hearing impairment, Wide nasal bridge, Edema, Depressed nasal bridg...	OMIM:613224
Double Outlet Right Ventricle	Submucous cleft hard palate, Intestinal malrotation, Depressed nasal bridge, Narrow mouth, Cleft ...	ORPHA:3426
Mucopolysaccharidosis Type 2, Severe Form	Camptodactyly of finger, Wide nose, Cardiomyopathy, Conductive hearing impairment, Sensorineural ...	ORPHA:217085
Scarf Syndrome	Enamel hypoplasia, Long philtrum, Wide nasal bridge, Coronal craniosynostosis, Prominent nasal br...	OMIM:312830
Bohring-Opitz Syndrome	Retrognathia, Wide nasal bridge, Fixed elbow flexion, Micrognathia, Limitation of joint mobility,...	ORPHA:97297
Desmosterolosis	Bifid uvula, Submucous cleft hard palate, Short nose, Intestinal malrotation, Depressed nasal bri...	ORPHA:35107
Steel Syndrome	Sensorineural hearing impairment, Wide nasal bridge, Carpal synostosis, Anteverted nares, Limited...	OMIM:615155
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Wrist flexion contracture, Wide nasal bridge, Micrognathia, Elbow flexion contrac...	OMIM:268300
Sporadic Infantile Bilateral Striatal Necrosis	Titubation, Abnormal posturing	ORPHA:225147
Mucopolysaccharidosis Type 2, Attenuated Form	Camptodactyly of finger, Wide nose, Cardiomyopathy, Conductive hearing impairment, Sensorineural ...	ORPHA:217093
Lig4 Syndrome	Convex nasal ridge, Wide nasal bridge, Malabsorption, Micrognathia, Telangiectasia of the skin, T...	ORPHA:99812
Pancreatic Agenesis-Holoprosencephaly Syndrome	High palate, Abnormal external nose morphology, Solitary median maxillary central incisor, Abnorm...	ORPHA:556955
Deafness, X-Linked 7	Wide nasal bridge	OMIM:301018
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Abnormal palate morphology, Wide nasal bridge, Abnormality of the dentition	ORPHA:1970
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus, High palate, Long philtrum, Wide nasal bridge, Micrognathia, Macrogloss...	OMIM:613457
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Enamel hypoplasia, Wide nasal bridge, Microdontia, Oligodonti...	OMIM:618727
Waardenburg Syndrome, Type 2A	Underdeveloped nasal alae, Wide nasal bridge	OMIM:193510
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, High palate, Wide nasal bridge, Widely spaced teeth, Short nose, Thin ...	OMIM:615803
Cog1-Cdg	Pulmonary arterial hypertension, High palate, Pierre-Robin sequence, Long philtrum, Microtia, Wid...	ORPHA:263508
Usher Syndrome Type 3	Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology	ORPHA:231183
Waardenburg Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Aganglionic megacolon, Abnormal lip morphology, Apl...	ORPHA:3440
Endocrine-Cerebroosteodysplasia	Thick upper lip vermilion, Polyhydramnios, Natal tooth, Bilateral cleft lip, Wide nasal bridge, M...	OMIM:612651
Fryns Syndrome	Polyhydramnios, Wide nasal bridge, Camptodactyly, Cleft palate, Esophageal atresia, Chylothorax, ...	OMIM:229850
15q26 overgrowth syndrome	Camptodactyly of finger, Mandibular prognathia, Sensorineural hearing impairment, High palate, Lo...	DECIPHER:81
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave, Dental malocclusion, Foot joint contracture, Long philtrum, Macrodontia of perma...	ORPHA:444072
Williams Syndrome	Sudden cardiac death, Peptic ulcer, Colonic diverticula, Wide nasal bridge, Microdontia, Microgna...	ORPHA:904
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Dental malocclusion, Long philtrum, Wide nasal bridge, Micrognathia, Maxillary lateral incisor mi...	ORPHA:73223
Trichorhinophalangeal Syndrome, Type Ii	Macrotia, Mandibular prognathia, Prominent nose, Deep philtrum, Wide nasal bridge, Micrognathia, ...	OMIM:150230
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Patent ductus arteriosus, Polyhydramnios, Conductive hearing impairment, Tricuspid regurgitation,...	OMIM:614557
Treacher Collins Syndrome 1	Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth, Cleft palate, Cho...	OMIM:154500
Acrofrontofacionasal Dysostosis 1	Cleft upper lip, Mandibular prognathia, Wide mouth, Wide nasal bridge, Oligodontia, Mixed hearing...	OMIM:201180
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Mandibular prognathia, Wide nasal bridge, Long ear, Thin upper lip vermilion, Subdural hemorrhage...	OMIM:619714
Barber-Say Syndrome	Wide mouth, Delayed eruption of teeth, Wide nasal bridge, Abnormal pinna morphology, Anteverted n...	ORPHA:1231
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent ductus arteriosus, Prominent nose, Wide mouth, Widely spaced teeth, Short philtrum, Joint ...	OMIM:300967
Keutel Syndrome	Macrotia, Deep philtrum, Wide nasal bridge, Pulmonic stenosis, Epiphyseal stippling, Recurrent br...	OMIM:245150
Tarp Syndrome	Abnormal antihelix morphology, Small earlobe, Pierre-Robin sequence, Wide nasal bridge, Tongue no...	ORPHA:2886
Joubert Syndrome 28	Wide nasal bridge	OMIM:617121
B4Galt1-Cdg	Long philtrum, Wide nasal bridge, Edema, Thin upper lip vermilion, Low-set ears	ORPHA:79332
Roifman-Chitayat Syndrome	Wide nasal bridge, Arthritis, Depressed nasal bridge, Osteopenia, Thin lower lip vermilion	OMIM:613328
Velocardiofacial Syndrome	Underdeveloped nasal alae, Pierre-Robin sequence, Velopharyngeal insufficiency, Submucous cleft h...	OMIM:192430
Renpenning Syndrome 1	Macrotia, High palate, Mandibular prognathia, Joint contracture of the hand, Wide nasal bridge, M...	OMIM:309500
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing	OMIM:128100
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hearing abnormality, Wide nasal bridge, Microtia, Micrognathia, Anal atresia, Anteriorly placed a...	ORPHA:1352
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Thin upper lip vermilion, Recurrent aphthous stomatitis, Long philtrum, Wide nasal bridge	OMIM:615966
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Dental malocclusion, Wide nasal bridge, Microretrognathia, Mixed hearing impairment, Carious teet...	OMIM:615560
22Q11.2 Deletion Syndrome	Polyhydramnios, Conductive hearing impairment, Truncus arteriosus, Wide nasal bridge, Micrognathi...	ORPHA:567
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Conductive hearing impairment, Abnormality of the anus, Wide nasal bridg...	OMIM:607872
Holoprosencephaly 13, X-Linked	Patent ductus arteriosus, Low-set ears, Aplasia of the nose, Microtia, Micrognathia, Submucous cl...	OMIM:301043
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, High palate, Long philtrum, Sensorineural hearing impairment, Wide nasa...	ORPHA:250989
Joubert Syndrome 3	Anteverted nares, Open mouth, Wide nasal bridge	OMIM:608629
Spastic Paraplegia 51, Autosomal Recessive	Flexion contracture, Wide mouth, Wide nasal bridge, Short philtrum, Prominent antihelix, Long nos...	OMIM:613744
Microcephaly 26, Primary, Autosomal Dominant	Long philtrum, Wide nasal bridge, Prominent nasal bridge, Short nose, Protruding tongue, Gingival...	OMIM:619179
Cantú Syndrome	Patent ductus arteriosus, Long philtrum, Wide mouth, Wide nasal bridge, Hypertrophic cardiomyopat...	ORPHA:1517
Neonatal Marfan Syndrome	Flexion contracture, Wide nasal bridge, Crumpled ear, Heart murmur, Micrognathia, Joint hypermobi...	ORPHA:284979
Acrocardiofacial Syndrome	Camptodactyly of finger, Cleft upper lip, Truncus arteriosus, Wide nasal bridge, Mitral stenosis,...	ORPHA:2008
Cutis Laxa, Autosomal Recessive, Type Ic	Retrognathia, Long philtrum, Wide nasal bridge, Micrognathia, Pyloric stenosis, Tracheomalacia, J...	OMIM:613177
Cardiofaciocutaneous Syndrome 1	Dental malocclusion, High palate, Deep philtrum, Submucous cleft hard palate, Bulbous nose, Short...	OMIM:115150
Trichohepatoenteric Syndrome 2	Depressed nasal bridge, Wide nasal bridge, Villous atrophy, Colitis	OMIM:614602
Megalencephaly	Wide nasal bridge	ORPHA:2477
Intellectual Developmental Disorder, Autosomal Dominant 51	Low hanging columella, Wide nasal base, Wide nasal bridge	OMIM:617788
Hyperparathyroidism, Transient Neonatal	Patent ductus arteriosus, Polyhydramnios, Short nasal bridge, Recurrent fractures, Wide nasal bri...	OMIM:618188
Doors Syndrome	Polyhydramnios, Wide nasal bridge, Short lingual frenulum, Spina bifida occulta, Cleft palate, Gi...	ORPHA:79500
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged...	ORPHA:90646
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Conductive hearing impairment, Wide mouth, Widely spaced teeth, Thick lower lip vermilion, Joint ...	OMIM:280000
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	High palate, Long philtrum, Pyloric stenosis, Submucous cleft hard palate, Short nose, Thin upper...	ORPHA:457279
Fanconi Anemia, Complementation Group L	Anotia, Esophageal atresia, Microtia, Micrognathia, Wide nasal bridge, Anal atresia, Tracheoesoph...	OMIM:614083
Hurler Syndrome	Camptodactyly of finger, Cardiomyopathy, Rhinitis, Wide nasal bridge, Macroglossia, Limitation of...	ORPHA:93473
Martin-Probst Syndrome	Dental malocclusion, Telangiectasia, Sensorineural hearing impairment, Wide mouth, Wide nasal bri...	OMIM:300519
Geleophysic Dysplasia 3	Polyhydramnios, Limited elbow movement, Long philtrum, Wide nasal bridge, Depressed nasal bridge,...	OMIM:617809
Jung Syndrome	Depressed nasal bridge, Wide nasal bridge	ORPHA:2321
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Wide nasal bridge, Prominent nasolabial fold, Abnormal periodontium morphology, Cleft palate, Gin...	ORPHA:480880
Mucopolysaccharidosis-Plus Syndrome	Patent ductus arteriosus, Wide nose, Flexion contracture, Wide nasal bridge, Macroglossia, Conges...	OMIM:617303
Oculoskeletodental Syndrome	Wide nasal bridge, Oligodontia, Elbow flexion contracture, Macroglossia, Broad columella, Lacunar...	OMIM:618440
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hypoplasia of the zygomatic bone, Thin vermilion border, Long philtrum	OMIM:614800
Specc1L-Related Hypertelorism Syndrome	Patent ductus arteriosus, Long philtrum, Wide nasal bridge, Advanced eruption of teeth, Abnormal ...	ORPHA:1519
Cartilage-Hair Hypoplasia	Macrotia, Abnormal bone ossification, Convex nasal ridge, Wide nasal bridge, Depressed nasal ridg...	ORPHA:175
Cohen-Gibson Syndrome	Retrognathia, Patent ductus arteriosus, Macrotia, Flexion contracture, Wide nasal bridge, Camptod...	OMIM:617561
Multiple Synostoses Syndrome 1	Thick upper lip vermilion, Underdeveloped nasal alae, Stapes ankylosis, Conductive hearing impair...	OMIM:186500
Carpenter Syndrome 2	Retrognathia, Dental malocclusion, Knee flexion contracture, Patent ductus arteriosus, High palat...	OMIM:614976
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Dental malocclusion, Camptodactyly of finger, Patent ductus arteriosus, High palate...	ORPHA:284984
Mohr-Tranebjaerg Syndrome	Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Sensor...	ORPHA:52368
Smith-Lemli-Opitz Syndrome	Polyhydramnios, Bifid tongue, Wide nasal bridge, Micrognathia, Tooth agenesis, Cleft palate, Ging...	ORPHA:818
Wrinkly Skin Syndrome	High palate, Wide anterior fontanel, Long philtrum, Delayed eruption of teeth, Wide nasal bridge,...	OMIM:278250
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Convex nasal ridge, Cleft soft palate, Short nose, Intestinal malrotation, Downturned corners of ...	OMIM:619321
Cranioectodermal Dysplasia 1	Enamel hypoplasia, Sagittal craniosynostosis, High palate, Wide nasal bridge, Widely spaced teeth...	OMIM:218330
Deafness, Autosomal Dominant 77	Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus	OMIM:618915
Schimke Immunoosseous Dysplasia	Pulmonary arterial hypertension, Wide nasal bridge, Cerebral ischemia, Transient ischemic attack,...	OMIM:242900
Basal Cell Nevus Syndrome 1	Hamartomatous stomach polyps, Cleft upper lip, Mandibular prognathia, Odontogenic keratocysts of ...	OMIM:109400
Oculoectodermal Syndrome	Patent ductus arteriosus, Hyperactivity, Wide nasal bridge, Lymphedema, Transient ischemic attack...	OMIM:600268
Simpson-Golabi-Behmel Syndrome	Camptodactyly of finger, Polyhydramnios, Cleft upper lip, Mandibular prognathia, Vertebral fusion...	ORPHA:373
Limb-Mammary Syndrome	Hypodontia, Bifid uvula, Submucous cleft soft palate, Cleft lip, Cleft hard palate, Cleft palate	ORPHA:69085
Peroxisome Biogenesis Disorder 13A (Zellweger)	Micrognathia, Depressed nasal bridge, Neonatal death, Wide nasal bridge	OMIM:614887
Metaphyseal Acroscyphodysplasia	Malar flattening, Anteverted nares, Craniosynostosis, Wide nasal bridge	OMIM:250215
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Retrognathia, Camptodactyly of finger, Knee flexion contracture, Multiple joint contractures, Wid...	ORPHA:468631
Smith-Lemli-Opitz Syndrome	Wide nasal bridge, Micrognathia, Bifid uvula, Epiphyseal stippling, Hypertrophic cardiomyopathy, ...	OMIM:270400
Skin Creases, Congenital Symmetric Circumferential, 2	Low-set ears, Wide nasal bridge, Microtia, Microdontia, Uplifted earlobe, Micrognathia, Thin uppe...	OMIM:616734
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Delayed ossification of carpal bones, Joint laxity, Limited elbow exte...	OMIM:300106
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Small earlobe, Patent ductus arteriosus, High palate, Wide nasal bridge, Microtia, Long nose, Joi...	OMIM:619522
Aspartylglucosaminuria	Mandibular prognathia, Wide nasal bridge, Microtia, Malabsorption, Arthritis, Abnormal cortical b...	ORPHA:93
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Macrotia, Mandibular prognathia, Wide nasal bridge, Short philtrum, Delayed eruption of permanent...	ORPHA:521445
Humeroradial Synostosis	Wide nasal bridge	OMIM:236400
Wolf-Hirschhorn Syndrome	Abnormality of the philtrum, Cleft upper lip, Wide nasal bridge, Microtia, Hypodontia, Abnormal l...	ORPHA:280
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Patent ductus arteriosus, Pulmonary arterial hypertension, Oral ulcer, Sensorineural hearing impa...	OMIM:612541
Omodysplasia 1	Limited elbow flexion, Limited knee flexion/extension, Long philtrum, Wide nasal bridge, Microgna...	OMIM:258315
Branchiogenic-Deafness Syndrome	Submucous cleft hard palate	OMIM:609166
Craniofrontonasal Syndrome	Cleft upper lip, Wide nasal bridge, Coronal craniosynostosis, Joint laxity, Bifid nasal tip, Hypo...	OMIM:304110
Neu-Laxova Syndrome	Abnormality of the philtrum, Depressed nasal ridge, Bifid uvula, Submucous cleft hard palate, Eve...	ORPHA:2671
Wars2-Related Combined Oxidative Phosphorylation Defect	High palate, Wide nasal bridge, Thin upper lip vermilion, Dysphagia, Low-set ears, Cardiomyopathy	ORPHA:572798
Cutis Laxa, Autosomal Recessive, Type Iid	Retrognathia, Macrotia, Right bundle branch block, Wide nasal bridge, Narrow naris, Camptodactyly...	OMIM:617403
8Q24.3 Microdeletion Syndrome	Truncus arteriosus, Cleft maxillary alveolar ridge, Wide nasal bridge, Spina bifida occulta, Smoo...	ORPHA:508488
Proboscis Lateralis	Abnormal paranasal sinus morphology, Patent ductus arteriosus, Single naris, High palate, Long ph...	ORPHA:141099
Wiedemann-Steiner Syndrome	Hyperactivity, High palate, Long philtrum, Wide nasal bridge, Short nose, Thin upper lip vermilio...	ORPHA:319182
Fraser Syndrome 1	Conductive hearing impairment, Abnormality of the anus, Midline nasal groove, Wide nasal bridge, ...	OMIM:219000
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, High palate, Wide nasal bridge, Depressed nasal bridge, Low-set ears	OMIM:104350
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Flexion contracture, Cleft soft palate, Ischemic stroke, Delayed eruption of teeth, Micrognathia,...	OMIM:619503
Hermansky-Pudlak Syndrome 2	Long philtrum, Periodontitis, Wide nasal bridge, Recurrent otitis media, Thin upper lip vermilion...	OMIM:608233
Viss Syndrome	Polyhydramnios, Bifid tongue, Cleft soft palate, Micrognathia, Bifid uvula, Submucous cleft soft ...	OMIM:619472
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Retrognathia, Underdeveloped nasal alae, Cleft soft palate, Widely spaced teeth, Pyloric stenosis...	ORPHA:268261
Okamoto Syndrome	Underdeveloped nasal alae, Macrotia, Wide nasal bridge, Exaggerated median tongue furrow, Oligohy...	ORPHA:2729
Mucopolysaccharidosis, Type X	Long philtrum, Wide nasal bridge, Widely spaced teeth, Diastema, Open bite	OMIM:619698
Congenital Disorder Of Glycosylation, Type Iim	Enamel hypoplasia, Mandibular prognathia, High palate, Wide nasal bridge, Short philtrum, Hyperte...	OMIM:300896
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Wide nasal bridge, Micrognathia, Posteriorly rotated ears, Short upper lip, Macroglossia, Malar f...	OMIM:309580
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Retrognathia, Polyhydramnios, High palate, Long philtrum, Wide nasal bridge, Narrow naris, Short ...	OMIM:617157
Acromelic Frontonasal Dysostosis	Cleft upper lip, Wide nasal bridge, Bifid nose, Midline defect of the nose, Broad nasal tip, Bifi...	OMIM:603671
Walker-Warburg Syndrome	Cleft palate, Bifid uvula, Submucous cleft hard palate	ORPHA:899
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Long philtrum, Wide nasal bridge, Depressed nasal tip, Thin upper lip vermil...	OMIM:619306
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	High palate, Wide nasal bridge, Microretrognathia, Joint hypermobility, Depressed nasal bridge, P...	OMIM:619418
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Wide nasal bridge, Smooth philtrum, Bilateral sensorineural hearing impairment, Depressed nasal t...	OMIM:619475
Ablepharon-Macrostomia Syndrome	Short upper lip, Microtia, third degree, Wide mouth, Abnormal nasal morphology, Camptodactyly, An...	OMIM:200110
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Long philtrum, Generalized joint laxity, Truncus arteriosus, Wide nasal br...	ORPHA:508498
Prader-Willi-Like Syndrome	Pedal edema, Wide nasal bridge, Bulimia, Thin upper lip vermilion, Downturned corners of mouth, P...	ORPHA:398073
Wolf-Hirschhorn Syndrome	Short upper lip, Cleft upper lip, Conductive hearing impairment, Sensorineural hearing impairment...	OMIM:194190
Blackfan-Diamond Anemia	High palate, Adenocarcinoma of the colon, Cleft soft palate, Wide nasal bridge, Depressed nasal b...	ORPHA:124
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Prominent nose, Long philtrum, Wide nasal bridge, Wide mouth, Malar flattening	ORPHA:1292
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Wide nasal bridge, Arthritis, Depressed nasal bridge, Palpebral edema, Osteopenia, Broad nasal ti...	ORPHA:221139
Waardenburg Syndrome, Type 1	Underdeveloped nasal alae, Mandibular prognathia, Wide nasal bridge, Congenital sensorineural hea...	OMIM:193500
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Wide nasal bridge, Exaggerated median tongue furrow, Posterior helix pit, Cleft p...	OMIM:312870
Piebaldism	Aganglionic megacolon, Long philtrum, Wide nasal bridge	ORPHA:2884
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Underdeveloped nasal alae, Choanal stenosis, Wide nasal bridge, Coronal craniosynos...	ORPHA:83617
Hardikar Syndrome	Patent ductus arteriosus, Cleft soft palate, Hypertension, Vertigo, Intestinal malrotation, Celia...	OMIM:301068
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Bifid uvula, Submucous cleft hard palate	OMIM:617660
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Anteverted nares, Wide nasal bridge	ORPHA:2518
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Wide nasal bridge	OMIM:614376
Kabuki Syndrome 1	Macrotia, High palate, Low-set ears, Wide nasal bridge, Malabsorption, Micrognathia, Protruding e...	OMIM:147920
Microphthalmia, Syndromic 9	Patent ductus arteriosus, Truncus arteriosus, Wide nasal bridge, Micrognathia, Low-set ears, Pulm...	OMIM:601186
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Patent ductus arteriosus, Wide nasal bridge, Exaggerated cupid's bow, Bifid uvula, Narrow mouth, ...	OMIM:619480
Non-Distal Monosomy 10Q	Wide nasal bridge	ORPHA:1581
Pallister-Killian Syndrome	Polyhydramnios, Flexion contracture, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, ...	OMIM:601803
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Abnormal nostril morphology, Branchial anomaly, Wide mouth, Wide nasal bridge, Prominent antiheli...	ORPHA:466950
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Wide mouth, Wide nasal bridge, P...	ORPHA:466943
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Knee flexion contracture, High palate, Wide nasal bridge, Micrognathia, Short nose, Overfolded he...	OMIM:609945
Fraser Syndrome	Underdeveloped nasal alae, Dental malocclusion, Cleft upper lip, Conductive hearing impairment, H...	ORPHA:2052
Mietens Syndrome	Wide nose, Wide nasal bridge, Short nose	ORPHA:2557
Ring Chromosome 13 Syndrome	Macrotia, High palate, Abnormality of the incisor, Wide nasal bridge, Micrognathia, Short philtru...	ORPHA:96176
Blepharophimosis, Ptosis, And Epicanthus Inversus	Depressed nasal bridge, High palate, Wide nasal bridge	OMIM:110100
Genitopatellar Syndrome	Knee flexion contracture, Polyhydramnios, Wide nose, Hip contracture, Prominent nose, Malrotation...	OMIM:606170
Lenz-Majewski Hyperostotic Dwarfism	Wide mouth, Bifid uvula, Submucous cleft hard palate, Choanal atresia, Abnormal dental enamel mor...	ORPHA:2658
Cardiospondylocarpofacial Syndrome	Fusion of middle ear ossicles, Conductive hearing impairment, Long philtrum, Wide mouth, Wide nas...	OMIM:157800
Dubowitz Syndrome	High palate, Wide mouth, Delayed eruption of teeth, Malabsorption, Submucous cleft hard palate, D...	ORPHA:235
Kosaki Overgrowth Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Wide nasal bridge	OMIM:616592
Microphthalmia With Linear Skin Defects Syndrome	Cleft earlobe, Retrognathia, Wide nose, Mandibular aplasia, Tricuspid regurgitation, Abnormality ...	ORPHA:2556
Pitt-Hopkins Syndrome	Deep philtrum, Wide mouth, Widely spaced teeth, Wide nasal bridge, Short philtrum, Open mouth, Fl...	OMIM:610954
Monosomy 22Q13.3	Dental malocclusion, Hyperactivity, Macrotia, Wide nasal bridge, Lymphedema, Palpebral edema, Den...	ORPHA:48652
Humeroradial Synostosis With Craniofacial Anomalies	Small earlobe, Humeroradial synostosis, Microtia, Wide nasal bridge, Carpal synostosis, Tarsal sy...	OMIM:236410
Mowat-Wilson Syndrome	Patent ductus arteriosus, Wide nasal bridge, Delayed eruption of teeth, Widely spaced teeth, Agan...	OMIM:235730
Acromesomelic Dysplasia 4	Low-set ears, Mandibular prognathia, Third degree atrioventricular block, Wide nasal bridge	OMIM:619636
Koolen-De Vries Syndrome Due To A Point Mutation	Wide nasal bridge, Everted lower lip vermilion, Thick nasal alae, Hearing impairment, Abnormality...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Wide nasal bridge, Everted lower lip vermilion, Thick nasal alae, Hearing impairment, Abnormality...	ORPHA:363958
Jacobsen Syndrome	Abnormality of the anus, Ectopic anus, Aplasia/Hypoplasia of the earlobes, Long philtrum, Wide na...	ORPHA:2308
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Convex nasal ridge, Delayed eruption of teeth, Micrognathia, Hypoplastic fac...	OMIM:264090
Adult Syndrome	Abnormality of dental morphology, Prominent nasal bridge, Wide nasal bridge, Abnormality of the d...	ORPHA:978
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Flexion contracture, Long philtrum, Wide nasal bridge, Widely spaced teeth, Short lingual frenulu...	OMIM:619479
Mowat-Wilson Syndrome	Conductive hearing impairment, Flexion contracture, Wide nasal bridge, Delayed eruption of teeth,...	ORPHA:2152
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Underdeveloped nasal alae, Sensorineural hearing impairment, Wide nasal bridge, Microcolon, Agang...	ORPHA:163746
1P36 Deletion Syndrome	Camptodactyly of finger, Patent ductus arteriosus, Conductive hearing impairment, Sensorineural h...	ORPHA:1606
Vici Syndrome	Abnormal posturing	OMIM:242840
Lymphedema-Hypoparathyroidism Syndrome	Wide nasal bridge	OMIM:247410
Yunis-Varon Syndrome	Polyhydramnios, Micrognathia, Hypoplastic facial bones, Prominent antihelix, Absent sternal ossif...	OMIM:216340
Coffin-Siris Syndrome 12	Underdeveloped nasal alae, High palate, Velopharyngeal insufficiency, Prominent nasal tip, Submuc...	OMIM:619325
Microphthalmia, Syndromic 2	Dental malocclusion, Long philtrum, Delayed eruption of teeth, Oligodontia, Bifid uvula, Submucou...	OMIM:300166
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Flexion contracture, Convex nasal ridge, Wide nasal bridge, Delayed eruption of teeth, Bifid uvul...	ORPHA:261552
Noonan Syndrome With Multiple Lentigines	Sensorineural hearing impairment, Wide nasal bridge, Bundle branch block, Spina bifida occulta, H...	ORPHA:500
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Narrow nasal tip, Wide nasal bridge, Widely spaced teeth, Thin upper lip vermilion, Abnormal pala...	ORPHA:477993
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Narrow nose, Submucous cleft hard palate	OMIM:618891
Dahlberg-Borer-Newcomer Syndrome	Wide nasal bridge	ORPHA:1563
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Wide nasal bridge, Widely spaced teeth, Thin upper lip vermilion, Downturned corners of mouth, An...	OMIM:616728
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Hypoplastic helices, Thickened helices, Microtia, Deep philtrum, Wide nasal bridge, Oligohydramni...	OMIM:617641
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Flexion contracture, Convex nasal ridge, Wide nasal bridge, Delayed eruption of teeth, Bifid uvul...	ORPHA:261537
Shprintzen Omphalocele Syndrome	Wide nasal bridge, Anal atresia, Short columella, Thin vermilion border, Flared nostrils	OMIM:182210
Campomelic Dysplasia	Irregular dentition, High palate, Long philtrum, Depressed nasal ridge, Submucous cleft hard pala...	OMIM:114290
Craniotubular Dysplasia, Ikegawa Type	Thick upper lip vermilion, Thin bony cortex, Long philtrum, Wide nasal bridge, Thick lower lip ve...	OMIM:619727
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Pulmonary edema, Wide nasal bridge, Micrognathia, Hypertension, Anteriorly placed anus, Hypertrop...	OMIM:220111
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Long philtrum, Wide nasal bridge, Lymphedema, Pleural effusion, Edema, Chylothorax, An...	ORPHA:2526
Waardenburg Syndrome, Type 2E	Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypoplasia of the semicircul...	OMIM:611584
Monosomy 13Q14	Wide nasal bridge, Micrognathia, Low-set ears, Prominent nasal bridge, Thickened helices, Protrud...	ORPHA:1587
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Prominent nose, Bifid uvula, Submucous cleft hard palate, Long nose, Cleft palate, Bulbous nose, ...	ORPHA:2636
Marden-Walker Syndrome	Pyloric stenosis, Bifid uvula, Submucous cleft hard palate, Narrow mouth, Cleft palate	ORPHA:2461
Peroxisome Biogenesis Disorder 1B	Convex nasal ridge, Epiphyseal stippling, Sensorineural hearing impairment, Wide nasal bridge	OMIM:601539
Pontocerebellar Hypoplasia Type 7	Thick upper lip vermilion, Macrotia, High palate, Wide nasal bridge, Micrognathia, Depressed nasa...	ORPHA:284339
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Multiple joint contractures, Wide nasal bridge, Depressed nasal bridge, Dysphagia,...	ORPHA:447997
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Wide nasal bridge, Lop ear, Anal atresia, Aortic regurgitation, Thin upper lip vermilion, Bulbous...	ORPHA:140952
Unilateral Polymicrogyria	Abnormal posturing	ORPHA:268943
Wiedemann-Rautenstrauch Syndrome	Convex nasal ridge, Natal tooth, Hypodontia, Short philtrum, Submucous cleft soft palate, Thin up...	ORPHA:3455
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Depressed nasal ridge, Long philtrum, Wide nasal bridge	ORPHA:2211
Limb Body Wall Complex	Wide nasal bridge, Spina bifida occulta, Abnormal intestine morphology, Depressed nasal bridge, C...	ORPHA:2369
Hereditary Orotic Aciduria	Low-set, posteriorly rotated ears, Wide nasal bridge, Patent ductus arteriosus	ORPHA:30
Syndromic Diarrhea	Patent ductus arteriosus, Wide nasal bridge, Villous atrophy, Aortic regurgitation, Gastritis, Co...	ORPHA:84064
Xq21 Microdeletion Syndrome	Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Dilatated inte...	ORPHA:1435
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	High palate, Narrow palate, Humeroradial synostosis, Wide nasal bridge, Elbow flexion contracture...	OMIM:276820
Restrictive Dermopathy	Aplasia/Hypoplasia involving the nose, Natal tooth, Microcolon, Submucous cleft hard palate, Narr...	ORPHA:1662
Norrie Disease	Macrotia, Sensorineural hearing impairment, Abnormal cochlea morphology, Narrow nasal bridge, Att...	ORPHA:649
Neuroocular Syndrome	Widely spaced teeth, Ankyloglossia, Submucous cleft hard palate, Torus palatinus, Downturned corn...	OMIM:619539
Cardiac-Urogenital Syndrome	Patent ductus arteriosus, Wide nasal bridge, Pericardial effusion, Intestinal malrotation, Trache...	OMIM:618280

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 Memo1

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 Memo1.

No publications found that use IMPC mice or data for Memo1.

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MGI Allele	Allele Type	Produced
Memo1^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Memo1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Memo1 MGI:1924140

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Eye Morphology

X-ray

Eye Morphology

Eye Morphology

Eye Morphology

Embryo LacZ

X-ray

X-ray

MicroCT E18.5

Human diseases caused by Memo1 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data