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Gene: Ednra MGI:105923

Gene Summary

Name:

endothelin receptor type A

Synonyms:

ETa, Gpcr10, AEA001, ET-AR, Mhdaaea1

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
preweaning lethality, complete penetrance	Ednra^{tm1b(EUCOMM)Hmgu}	HOM	Early adult
abnormal facial morphology	Ednra^{tm1b(EUCOMM)Hmgu}	HOM	E18.5
abnormal craniofacial morphology	Ednra^{tm1b(EUCOMM)Hmgu}	HOM	E12.5

Download data as: TSV XLS

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Viewing: all phenotypes

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

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

Anatomy	Images	Zygosity	Mutant Expr
Embryo	N/A	heterozygote	100% (2 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Dorsal root ganglion	N/A	heterozygote	Ambiguous
Ear	N/A	heterozygote	Ambiguous
Eye	N/A	heterozygote	100% (2 of 2)
Footplate	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	Ambiguous
Handplate	N/A	heterozygote	100% (2 of 2)
Head	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)
Liver	N/A	heterozygote	Ambiguous
Lung	N/A	heterozygote	Ambiguous
Mandibular process	N/A	heterozygote	100% (2 of 2)
Maxillary process	N/A	heterozygote	100% (2 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Nose	N/A	heterozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	Ambiguous
Skin	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	heterozygote	100% (2 of 2)
Tail	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)
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)
epididymis	14.29% (21 of 147)
esophagus	1.66% (7 of 422)
eye	0.0%
heart	0.33% (2 of 598)
hippocampus	0.5% (3 of 598)
hypothalamus	0.33% (2 of 598)
kidney	4.52% (27 of 598)
large intestine	5.35% (32 of 598)
liver	0.0%
lower urinary tract	0.17% (1 of 598)
lung	0.33% (2 of 598)
lymph node	0.17% (1 of 598)
mammary gland	0.0%
midbrain	0.0%
olfactory lobe	0.33% (2 of 598)
ovary	0.17% (1 of 598)
oviduct	0.0%
pancreas	0.84% (5 of 598)
peripheral nervous system	0.33% (2 of 598)
peyers patch	0.0%
pituitary gland	0.17% (1 of 598)
prostate gland	2.17% (13 of 598)
skeletal muscle	0.0%
skin	0.17% (1 of 598)
small intestine	5.35% (32 of 598)
spinal cord	0.5% (3 of 598)
spleen	0.5% (3 of 598)
stomach	3.68% (22 of 598)
striatum	0.5% (3 of 598)
submandibular gland	1.38% (2 of 145)
testis	1% (6 of 598)
thalamus	0.0%
thymus	0.17% (1 of 598)
thyroid gland	3.01% (18 of 598)
trachea	0.5% (3 of 598)
urinary bladder	0.0%
uterus	0.33% (2 of 598)
vascular system	0.0%
vesicular gland	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)
brain	1.17% (6 of 511)
dorsal root ganglion	1.67% (1 of 60)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
fronto-nasal process	1.64% (1 of 61)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
nose	1.28% (1 of 78)
oral cavity	0.2% (1 of 506)
skin	0.2% (1 of 511)
spinal cord	1.39% (1 of 72)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

X-ray

XRay Images Skull Lateral Orientation

10 Images

View images

X-ray

XRay Images Forepaw

10 Images

View images

Adult LacZ

LacZ Images Section

37 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

MicroCT E18.5

Embryo reconstruction

6 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images

Gross Morphology Embryo E18.5

Images

3 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images

Human diseases caused by Ednra 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 Ednra (3 diseases)
Human diseases predicted to be associated with Ednra (2087 diseases)

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

Disease	Matching phenotypes	Source
Mandibulofacial Dysostosis With Alopecia	Lower eyelid coloboma, Conductive hearing impairment, Sparse eyelashes, Delayed eruption of prima...	OMIM:616367
Cystic Fibrosis	Pneumothorax, Bronchiectasis, Asthma, Airway obstruction, Sinusitis, Reduced forced expiratory vo...	ORPHA:586
Migraine With Or Without Aura, Susceptibility To, 1		OMIM:157300

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

Disease	Matching phenotypes	Source
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia...	OMIM:618780
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Bilateral conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia, Ab...	OMIM:128980
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Conotruncal Heart Malformations	Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula...	OMIM:217095
Auriculocondylar Syndrome 2	Micrognathia, Cleft palate, Glossoptosis, Hearing impairment, Posteriorly rotated ears, Overfoldi...	OMIM:614669
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, Micrognathia, Supernumerary tooth, ...	ORPHA:3145
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Low-set, posteriorly rotated ears, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruptio...	ORPHA:2972
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Treacher Collins Syndrome 3	Conductive hearing impairment, Microtia, Micrognathia, Hypoplasia of the zygomatic bone, Malar fl...	OMIM:248390
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Treacher Collins Syndrome 2	Retrognathia, Fusion of middle ear ossicles, Downslanted palpebral fissures, Conductive hearing i...	OMIM:613717
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Genitopalatocardiac Syndrome	Double outlet right ventricle, Transposition of the great arteries, Right aortic arch, Ventricula...	OMIM:231060
Heterotaxy, Visceral, 12, Autosomal	Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Left superior ven...	OMIM:619702
Distal Trisomy 14Q	Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:1705
X-Linked Mandibulofacial Dysostosis	Conductive hearing impairment, High palate, Sensorineural hearing impairment, Branchial anomaly, ...	ORPHA:1131
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Patent ductus arteriosus, Double outlet right ventricle, Macrotia, High palate, Micrognathia, Rec...	ORPHA:3304
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes,...	ORPHA:3232
Congenital Heart Defects, Multiple Types, 6	Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a...	OMIM:613854
Craniometadiaphyseal Dysplasia	Genu varum, Genu valgum, Mandibular prognathia, Abnormally large globe, Wide anterior fontanel, N...	OMIM:269300
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ...	OMIM:615779
Aorto-Ventricular Tunnel	Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn...	ORPHA:3400
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Macrotia, Arteriovenous malformation, Abnormal aortic arch morphology, Dow...	ORPHA:1110
Lethal Osteosclerotic Bone Dysplasia	Delayed cranial suture closure, Retrognathia, Mandibular aplasia, Depressed nasal ridge, Microgna...	ORPHA:1832
Diabetic Embryopathy	Abnormal aortic morphology, Spinal dysraphism, Abnormality of the neck, Ventricular septal defect...	ORPHA:1926
Camptodactyly Syndrome, Guadalajara Type 1	Camptodactyly of finger, Brachycephaly, Epicanthus, Synophrys, Midface retrusion, Telecanthus, Sh...	ORPHA:1327
You-Hoover-Fong Syndrome	Double aortic arch, Vascular ring, Coarctation of aorta	OMIM:616954
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Webbed neck, Truncus arteriosus, Ventricular septal defect	OMIM:601355
Mcdonough Syndrome	Underdeveloped nasal alae, Dental malocclusion, Short palpebral fissure, Mandibular prognathia, M...	ORPHA:2471
Lessel-Kreienkamp Syndrome	Dental malocclusion, Scaphocephaly, Hypoplastic helices, Plagiocephaly, Wide nasal bridge, Epican...	OMIM:619149
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Abnormally large globe, Plagiocephaly, Wide nasal bridge, Midface retrusion, Cleft palate, Hearin...	OMIM:239300
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal aortic morphology, Webbed neck, Truncus arteriosus, Ventricular septal defect, Short neck	ORPHA:2516
Chromosome 3Pter-P25 Deletion Syndrome	Brachycephaly, Wide nasal bridge, Epicanthus, EEG abnormality, Micrognathia, Synophrys, Thin verm...	OMIM:613792
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum	Eruption failure, Delayed eruption of primary teeth, Multiple non-erupting secondary teeth, Maxil...	OMIM:273050
Oculodentodigital Dysplasia, Autosomal Recessive	Brachycephaly, Delayed eruption of teeth, Epicanthus, Micrognathia, Large fontanelles, Thin vermi...	OMIM:257850
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Seckel Syndrome 1	Abnormally large globe, Convex nasal ridge, Selective tooth agenesis, Micrognathia, Elbow flexion...	OMIM:210600
Fetal Trimethadione Syndrome	High palate, Ventricular septal defect, Micrognathia, Midface retrusion, Atrial septal defect, Lo...	ORPHA:1913
Tricuspid Atresia	Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo...	ORPHA:1209
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Overrid...	OMIM:601927
Heterotaxy, Visceral, 6, Autosomal	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ...	OMIM:614779
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Downslanted palpebral fissures, Abnormally large globe, Macrotia, Decreased body weight, Sensorin...	OMIM:300749
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus	OMIM:611867
Autosomal Dominant Coarctation Of Aorta	Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m...	ORPHA:1455
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	ORPHA:228190
Auriculocondylar Syndrome 1	Hypoplastic superior helix, Cleft at the superior portion of the pinna, Dental malocclusion, Mand...	OMIM:602483
Temtamy Preaxial Brachydactyly Syndrome	Abnormally large globe, Optic atrophy, Micrognathia, Microdontia, Abnormal optic disc morphology,...	ORPHA:363417
Treacher-Collins Syndrome	Respiratory insufficiency, Conductive hearing impairment, Hypoplasia of the thymus, Micrognathia,...	ORPHA:861
Recombinant Chromosome 8 Syndrome	Micrognathia, Midface retrusion, Camptodactyly, Gingival overgrowth, Hearing impairment, Posterio...	OMIM:179613
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection	OMIM:613780
Pierpont Syndrome	Brachycephaly, Decreased body weight, Midface retrusion, Everted lower lip vermilion, Large flesh...	OMIM:602342
Rubinstein-Taybi Syndrome 2	Retrognathia, Talon cusp, Dental malocclusion, Convex nasal ridge, Prominent nose, Short 5th toe,...	OMIM:613684
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Stiff neck, High palate, Hypoplasia of the thymus...	OMIM:617022
Hypoplastic Left Heart Syndrome 1	Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta	OMIM:241550
22Q11.2 Duplication Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Interrupted aortic arch, Micrognathi...	ORPHA:1727
Larsen-Like Syndrome	Brachycephaly, Dental malocclusion, Flat face, Conductive hearing impairment, Joint dislocation, ...	OMIM:608545
Emanuel Syndrome	Truncus arteriosus, Micrognathia, Recurrent sinusitis, Cleft palate, Hearing impairment, Broad ja...	OMIM:609029
Non-Distal Trisomy 10Q	Brachycephaly, Downslanted palpebral fissures, Convex nasal ridge, High palate, Blepharophimosis,...	ORPHA:1695
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Conductive hearing impairment, High palate, Pierre-Robin sequence, Long philtrum, Perimembranous ...	OMIM:617877
Bent Bone Dysplasia Syndrome 1	Abnormally large globe, Natal tooth, Coronal craniosynostosis, Micrognathia, Midface retrusion, D...	OMIM:614592
Carpenter Syndrome 1	Conductive hearing impairment, Precocious puberty, Optic atrophy, Micrognathia, Midface retrusion...	OMIM:201000
17Q21.31 Microduplication Syndrome	High palate, Epicanthus, Micrognathia, Synophrys, Short philtrum, Short nose, Abnormality of the ...	ORPHA:217340
Blepharophimosis-Impaired Intellectual Development Syndrome	Plagiocephaly, Wide nasal bridge, Epicanthus, Synophrys, Microdontia, Sparse eyelashes, Thick eye...	OMIM:619293
Adenylosuccinate Lyase Deficiency	Brachycephaly, Long philtrum, Short nose, Thin upper lip vermilion, Flat occiput, Anteverted nare...	ORPHA:46
Familial Aortic Dissection	Patent ductus arteriosus, Aortic root aneurysm, Cardiomegaly, Coronary artery atherosclerosis, De...	ORPHA:229
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Double outlet right ventricle, Patent for...	ORPHA:477817
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, High palate,...	ORPHA:251071
Congenital Myopathy 13	Brachycephaly, Short palpebral fissure, Downslanted palpebral fissures, Conductive hearing impair...	OMIM:255995
Potocki-Lupski Syndrome	Dental malocclusion, Downslanted palpebral fissures, Mandibular prognathia, High palate, EEG abno...	OMIM:610883
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Patent ductus arteriosus, Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left ...	OMIM:618845
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposition of the gre...	OMIM:613751
Branchiooculofacial Syndrome	Conductive hearing impairment, Micrognathia, Elbow flexion contracture, Supraauricular pit, Super...	OMIM:113620
Emanuel Syndrome	Truncus arteriosus, Ectopic anus, Delayed eruption of teeth, Multiple joint contractures, Microgn...	ORPHA:96170
Intellectual Developmental Disorder, Autosomal Dominant 26	Brachycephaly, Short palpebral fissure, Downslanted palpebral fissures, Wide nasal bridge, Epican...	OMIM:615834
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Pierpont Syndrome	Brachycephaly, Short toe, Macrotia, Widely spaced teeth, Small for gestational age, Uplifted earl...	ORPHA:487825
Double Outlet Right Ventricle	Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia ...	ORPHA:3426
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Heterotaxy, Visceral, 8, Autosomal	Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec...	OMIM:617205
Atrial Septal Defect 4	Patent foramen ovale, Atrial septal defect, Coarctation of aorta	OMIM:611363
Trisomy 18-Like Syndrome	Wide nasal bridge, Blepharophimosis, Micrognathia, Narrow palpebral fissure, Abnormal pinna morph...	OMIM:601161
Craniosynostosis And Dental Anomalies	Dental malocclusion, Stapes ankylosis, Mandibular prognathia, Narrow palate, High palate, Conduct...	OMIM:614188
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	OMIM:604381
Muenke Syndrome	Brachycephaly, Dental malocclusion, Short middle phalanx of toe, Downslanted palpebral fissures, ...	OMIM:602849
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Retrognathia, Truncus arteriosus, Ventricular septal defect, Pineal cys...	OMIM:617516
Velocardiofacial Syndrome	Ventricular septal defect, Interrupted aortic arch, Double aortic arch, Pulmonary artery atresia,...	OMIM:192430
14Q24.1Q24.3 Microdeletion Syndrome	Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology, P...	ORPHA:401935
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Epicanthus, Micrognathia, Short nose, Thin upper lip vermilion, Anteverted nares, Low-set, poster...	ORPHA:2015
Auriculocondylar Syndrome	Micrognathia, Bifid uvula, Question mark ear, Cleft palate, Glossoptosis, Hearing impairment, Cle...	ORPHA:137888
Maxillonasal Dysplasia, Binder Type	Dental malocclusion, Short nose, Large earlobe, Short columella, Depressed nasal bridge, Short di...	OMIM:155050
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Brachycephaly, Broad jaw, Optic atrophy, Thickened calvaria, Craniosynostosis, Hearing impairment...	ORPHA:178377
Aortic Valve Disease 3	Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascending aortic dissection, A...	OMIM:618496
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Underdeveloped nasal alae, Conductive hearing impairment, High palate, Wide nasal bridge, Microti...	OMIM:248910
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Malar flattening	ORPHA:2835
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Hypoplasia of the zygomatic bone	ORPHA:3074
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, High palate, Long philtrum, Deep philtrum, Ventricular septal defect, M...	ORPHA:261120
Otosclerosis 7	Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a...	OMIM:611572
Ciliary Dyskinesia, Primary, 40	Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri...	OMIM:618300
Treacher Collins Syndrome 4	Downslanted palpebral fissures, Choanal stenosis, Conductive hearing impairment, Lower eyelid col...	OMIM:618939
Frank-Ter Haar Syndrome	Delayed cranial suture closure, Brachycephaly, Abnormally large globe, Micrognathia, Buphthalmos,...	OMIM:249420
Crouzon Syndrome	Respiratory insufficiency, Brachycephaly, Conjunctivitis, Conductive hearing impairment, Narrow i...	ORPHA:207
Coffin-Siris Syndrome 6	Retrognathia, Downslanted palpebral fissures, Conductive hearing impairment, Plagiocephaly, Deep ...	OMIM:617808
Mandibulofacial Dysostosis-Microcephaly Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, Epicanthus, Micrognathia, Absent tr...	ORPHA:79113
Fibromuscular Dysplasia, Arterial	Aortic dissection, Arterial fibromuscular dysplasia, Stroke	OMIM:135580
Van Maldergem Syndrome 1	Irregular dentition, Conductive hearing impairment, Short 4th metacarpal, Wide nasal bridge, Epic...	OMIM:601390
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Brachycephaly, Turricephaly, Long philtrum, Microtia, Blepharophimosis, Micrognathia, Radioulnar ...	ORPHA:171839
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno...	ORPHA:477781
Structural Heart Defects And Renal Anomalies Syndrome	Webbed neck, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septa...	OMIM:617478
Cleft Palate, Isolated	Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion	OMIM:119540
Hemifacial Atrophy, Progressive	Dental malocclusion, Horner syndrome, Microtia, Delayed eruption of teeth, Blepharophimosis, Tong...	OMIM:141300
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Underdeveloped nasal alae, Dental malocclusion, Downslanted palpebral fissures, Macrotia, Microgn...	ORPHA:436245
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Brachycephaly, Shoulder dislocation, Abnormally large globe, Micrognathia, Elbow flexion contract...	OMIM:245600
Scimitar Syndrome	Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep...	ORPHA:185
Holoprosencephaly	Abnormal antihelix morphology, Respiratory insufficiency, Spinal dysraphism, Optic atrophy, Anter...	ORPHA:2162
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Macrotia, Wide mouth, Macroglossia, Everted lower lip vermilion, Short neck...	OMIM:616789
Van Maldergem Syndrome 2	Hip subluxation, Irregular dentition, Conductive hearing impairment, Short 4th metacarpal, Wide n...	OMIM:615546
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Underdeveloped nasal alae, Dental malocclusion, Widely spaced teeth, Attached earlobe, Upslanted ...	OMIM:616108
Alpha-Mannosidosis	Dental malocclusion, Mandibular prognathia, Macrotia, Narrow palate, Widely spaced teeth, Arthrit...	ORPHA:61
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Epicanth...	ORPHA:90646
Craniosynostosis 3	Left unicoronal synostosis, Dental malocclusion, Sagittal craniosynostosis, Ptosis, Right unicoro...	OMIM:615314
Aortic Aneurysm, Familial Thoracic 8	Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort...	OMIM:615436
Cohen Syndrome	Aplasia/Hypoplasia of the tongue, Sensorineural hearing impairment, Ventricular septal defect, Op...	ORPHA:193
Pycnodysostosis	Delayed cranial suture closure, Convex nasal ridge, Micrognathia, Midface retrusion, Prominent no...	ORPHA:763
Flat Face-Microstomia-Ear Anomaly Syndrome	Abnormal antihelix morphology, Camptodactyly of finger, Macrotia, Long philtrum, Aplasia/Hypoplas...	ORPHA:1968
Sandestig-Stefanova Syndrome	Retrognathia, Angulated antihelix, High palate, Perimembranous ventricular septal defect, Underde...	OMIM:618804
Chromosome 9P Deletion Syndrome	Patent ductus arteriosus, Retrognathia, Narrow palate, High palate, Long philtrum, Deep philtrum,...	OMIM:158170
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Umbilical hernia, Hearing abnormality, Macrotia, Narrow palate, Optic atrophy, Aplasia/Hypoplasia...	ORPHA:1555
Intellectual Developmental Disorder, Autosomal Dominant 23	Brachycephaly, Downslanted palpebral fissures, Long philtrum, Wide nasal bridge, Micrognathia, Sy...	OMIM:615761
Congenital Disorder Of Glycosylation, Type Ih	Patent ductus arteriosus, Hypothyroidism, Anemia, Long philtrum, Death in infancy, Perimembranous...	OMIM:608104
Cornelia De Lange Syndrome 5	Brachycephaly, Micrognathia, Synophrys, Limited elbow extension, Cleft palate, Telecanthus, Heari...	OMIM:300882
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Macrotia, Prominent nose, Synophrys, Anteverted ears	OMIM:615541
Short Stature-Wormian Bones-Dextrocardia Syndrome	Patent ductus arteriosus, Abnormality of the philtrum, Camptodactyly of finger, High palate, Dela...	ORPHA:2863
Acrootoocular Syndrome	Conductive hearing impairment, Delayed eruption of teeth, Grayish enamel, Micrognathia, Epicanthu...	ORPHA:2980
Acrocraniofacial Dysostosis	Wide nose, Oxycephaly, Downslanted palpebral fissures, Conductive hearing impairment, Sensorineur...	OMIM:201050
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Patent ductus arteriosus, Wrist flexion contracture, Wrist drop, Distal lower limb amyotrophy, We...	OMIM:619519
Intellectual Developmental Disorder, Autosomal Dominant 21	Patent ductus arteriosus, Incisor macrodontia, Long philtrum, Atrial septal defect, Coarctation o...	OMIM:615502
Zechi-Ceide Syndrome	Wide nose, Short metatarsal, Short palpebral fissure, Conductive hearing impairment, Mandibular p...	ORPHA:217017
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Horizontal eyebrow, Short 5th finger, Micrognathia, Long eyelashes, Thin upper lip vermilion, Ant...	OMIM:618608
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Wi...	OMIM:619717
Chromosome 16Q22 Deletion Syndrome	Short palpebral fissure, Sensorineural hearing impairment, Wide anterior fontanel, Wide nasal bri...	OMIM:614541
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Brachycephaly, Conductive hearing impairment, Mandibular prognathia, Sensorineural hearing impair...	OMIM:618672
Primary Ciliary Dyskinesia	Asplenia, Conductive hearing impairment, Bronchiectasis, Productive cough, Airway obstruction, Ab...	ORPHA:244
Distal 17P13.1 Microdeletion Syndrome	Hypoplasia of the zygomatic bone, Retrognathia, Protruding ear	ORPHA:319171
Cebalid Syndrome	Brachycephaly, Downslanted palpebral fissures, Flat face, Plagiocephaly, Depressed nasal ridge, T...	OMIM:618774
Deafness, Progressive, With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	OMIM:601449
Progressive Deafness With Stapes Fixation	Stapes ankylosis, Bilateral conductive hearing impairment	ORPHA:3235
Deafness, X-Linked 2	Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s...	OMIM:304400
Microphthalmia, Syndromic 9	Patent ductus arteriosus, Respiratory insufficiency, Truncus arteriosus, Ventricular septal defec...	OMIM:601186
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Congenital Heart Defects, Multiple Types, 5	Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy...	OMIM:617912
Familial Cerebral Saccular Aneurysm	Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Abnormal circle of Willis morph...	ORPHA:231160
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic left...	ORPHA:2248
Amelogenesis Imperfecta	Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa...	ORPHA:88661
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Smooth philtrum, Posteriorly rotated ears, Pointed chin, Double outlet right ventricle, Patent fo...	OMIM:618316
Gomez-Lopez-Hernandez Syndrome	Brachycephaly, Downslanted palpebral fissures, Skull asymmetry, High palate, Wide anterior fontan...	OMIM:601853
Congenital Tracheomalacia	Patent ductus arteriosus, Cardiomegaly, Ventricular septal defect, Single ventricle, Atrial septa...	ORPHA:95430
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel...	ORPHA:83451
Nager Syndrome	Microtia, Micrognathia, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Low-set, pos...	ORPHA:245
Conductive Deafness-Malformed External Ear Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Abnormality of the mid...	ORPHA:3216
Moyamoya Disease 5	Ascending tubular aorta aneurysm, Moyamoya phenomenon	OMIM:614042
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Dental malocclusion, Mandibular prognathia, High palate, Fatigable weakness, Facial palsy, Ptosis...	OMIM:608931
Cleidocranial Dysplasia	Hearing abnormality, Mandibular prognathia, Delayed eruption of teeth, Dimple chin, Micrognathia,...	ORPHA:1452
Hallermann-Streiff Syndrome	Brachycephaly, Selective tooth agenesis, Micrognathia, Choreoathetosis, Everted lower lip vermili...	OMIM:234100
Aortic Aneurysm, Familial Thoracic 6	Ascending tubular aorta aneurysm, Moyamoya phenomenon, Descending aortic dissection, Aortic aneur...	OMIM:611788
Toluene Embryopathy	Hypoplasia of the zygomatic bone, Micrognathia, Low-set ears, Protruding ear	ORPHA:1920
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Brachycephaly, Plagiocephaly, Wide nasal bridge, Epicanthus, EEG abnormality, Midface retrusion, ...	ORPHA:369891
Symphalangism, Proximal, 1A	Proximal symphalangism of hands, Metacarpophalangeal synostosis, Stapes ankylosis, Conductive hea...	OMIM:185800
Charge Syndrome	Respiratory insufficiency, Aortic arch aneurysm, Optic atrophy, Delayed eruption of teeth, Anteri...	ORPHA:138
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Patent ductus arteriosus, Thick upper lip vermilion, Dental malocclusion, Retrognathia, Perimembr...	ORPHA:363444
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Hypoplasia of the zygomatic bone, Low-set ears, Mandibular prognathia, Protruding ear	ORPHA:1778
Frontonasal Dysplasia 1	Conductive hearing impairment, Joint contracture of the hand, Hypoplastic frontal sinuses, Wide n...	OMIM:136760
Truncus Arteriosus	Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Interrupted aortic arch...	ORPHA:3384
Ritscher-Schinzel Syndrome 1	Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular...	OMIM:220210
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Respiratory insufficiency, Abnormal lower lip morphology, Abnormal aortic morphology, Ventricular...	ORPHA:1166
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short palpebral fissure, Downslanted palpebral fissures, Flat face, High palate, Pierre-Robin seq...	OMIM:613604
Ciliary Dyskinesia, Primary, 37	Right aortic arch, Situs inversus totalis, Dextrocardia	OMIM:617577
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Patent ductus arteriosus, Double outlet right ventricle, Asplenia, High palate, Unbalanced atriov...	OMIM:619657
Partial Atrioventricular Septal Defect	Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B...	ORPHA:1330
Clark-Baraitser Syndrome	Brachycephaly, High palate, Long philtrum, Wide mouth, Epicanthus, Dolichocephaly, Narrow palpebr...	OMIM:617752
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Absence of acoustic reflex, Sensorineural hearing impairment...	OMIM:609129
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Brachycephaly, Stapes ankylosis, Skull asymmetry, Wide nasal bridge, Synophrys, Thin vermilion bo...	OMIM:614701
20Q11.2 Microduplication Syndrome	Brachycephaly, Wide nasal bridge, Epicanthus, Abnormal nasal bridge morphology, Abnormal shape of...	ORPHA:363659
Weiss-Kruszka Syndrome	Horizontal crus of helix, Ventricular septal defect, Microtia, Preauricular pit, Bicuspid aortic ...	OMIM:618619
Heterotaxy, Visceral, 7, Autosomal	Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,...	OMIM:616749
Potocki-Shaffer Syndrome	Underdeveloped nasal alae, Brachycephaly, Parietal foramina, Downslanted palpebral fissures, Spar...	OMIM:601224
16P13.11 Microduplication Syndrome	Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans...	ORPHA:261243
Johnson Neuroectodermal Syndrome	Patent ductus arteriosus, Retrognathia, Atresia of the external auditory canal, Conductive hearin...	OMIM:147770
Snijders Blok-Campeau Syndrome	Enamel hypoplasia, High palate, Widely spaced teeth, Perimembranous ventricular septal defect, Ta...	OMIM:618205
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Brachycephaly, Macrotia, Optic atrophy, Wide mouth, Decreased motor nerve conduction velocity, Mi...	OMIM:615419
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Cleft upper lip, Ventricular septal defect, Perimembranous ventricular septal defect, Secundum at...	OMIM:600987
Shprintzen-Goldberg Craniosynostosis Syndrome	Conductive hearing impairment, Micrognathia, Dislocated radial head, Telecanthus, Posteriorly rot...	OMIM:182212
Craniodiaphyseal Dysplasia	Conductive hearing impairment, Wide nasal bridge, Optic atrophy, Craniofacial hyperostosis, Front...	ORPHA:1513
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly, Macrotia, High palate, Wide nasal bridge, Decreased motor nerve conduction velocit...	OMIM:218000
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Kabuki Syndrome 2	Decreased body weight, Short 5th finger, Epicanthus, Micrognathia, Hip dislocation, Depressed nas...	OMIM:300867
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation	Patent ductus arteriosus, Sensorineural hearing impairment, Midface retrusion, Malar flattening, ...	OMIM:122430
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect, Vascular ring	OMIM:603387
Craniofacial-Deafness-Hand Syndrome	Camptodactyly of finger, Downslanted palpebral fissures, Aplasia/Hypoplasia involving the nose, F...	ORPHA:1529
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Respiratory insufficiency, Brachycephaly, Conductive hearing impairment, Convex nasal ridge, Turr...	ORPHA:93262
Microcephalic Primordial Dwarfism, Montreal Type	Retrognathia, Ptosis, Abnormally large globe, Convex nasal ridge	OMIM:210700
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Brachycephaly, High palate, Abnormality of the elbow, Wide anterior fontanel, Abnormality of cran...	ORPHA:163649
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect	OMIM:616589
Variant Abeta2M Amyloidosis	Intestinal perforation, Abnormal skeletal muscle morphology, Abnormal autonomic nervous system ph...	ORPHA:314652
Microcephaly-Microcornea Syndrome, Seemanova Type	Retrognathia, Brachycephaly, High palate, Epicanthus, Narrow mouth, Microphthalmia, Upslanted pal...	ORPHA:2528
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed cranial suture closure, Brachycephaly, Conductive hearing impairment, Wide nasal bridge, ...	ORPHA:2780
Robinow Syndrome, Autosomal Dominant 2	Conductive hearing impairment, Cleft soft palate, Micrognathia, Midface retrusion, Cleft palate, ...	OMIM:616331
Crouzon Syndrome	Brachycephaly, Sagittal craniosynostosis, Conjunctivitis, Mandibular prognathia, Conductive heari...	OMIM:123500
Aminopterin Syndrome Sine Aminopterin	Brachycephaly, Decreased body weight, High palate, Joint contracture of the hand, Micrognathia, O...	OMIM:600325
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, High palate, Hypoplasia of the thymus, Conotruncal defect, Microti...	ORPHA:40366
X-Linked Intellectual Disability, Sutherland-Haan Type	Brachycephaly, Macrotia, Mandibular prognathia, Decreased body weight, Small for gestational age,...	ORPHA:93950
Gaucher Disease, Type Ii	Double aortic arch	OMIM:230900
Aorta Coarctation	Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru...	ORPHA:1457
Ververi-Brady Syndrome	Macrotia, High palate, Wide mouth, Everted lower lip vermilion, Thin upper lip vermilion, Smooth ...	OMIM:617982
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Saethre-Chotzen Syndrome	Delayed cranial suture closure, Abnormal antihelix morphology, Brachycephaly, Blepharospasm, Cond...	ORPHA:794
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Delayed cranial suture closure, Hearing abnormality, Brachycephaly, Mandibular prognathia, Abnorm...	ORPHA:2511
Craniosynostosis, Herrmann-Opitz Type	Abnormal antihelix morphology, Brachycephaly, Convex nasal ridge, Turricephaly, Microtia, Microgn...	ORPHA:2145
Severe Oculo-Renal-Cerebellar Syndrome	Macrotia, Mandibular prognathia, Malar prominence, Large earlobe, Hypoplasia of the zygomatic bone	ORPHA:2715
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Aortopu...	ORPHA:99050
Pierre Robin Syndrome	Pierre-Robin sequence, Micrognathia, Upper airway obstruction, Cor pulmonale, Cleft palate, Gloss...	OMIM:261800
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Patent ductus arteriosus, Abnormal oral cavity morphology, Micrognathia, Short philtrum, Short ne...	ORPHA:1516
Saethre-Chotzen Syndrome	Narrow palate, Prominent crus of helix, Low-set ears, Microtia, Hypoplasia of the maxilla, Abnorm...	OMIM:101400
Catel-Manzke Syndrome	Camptodactyly of finger, Ventricular septal defect, Micrognathia, Oral synechia, Atrial septal de...	ORPHA:1388
Sweeney-Cox Syndrome	Brachycephaly, Wide nasal bridge, Micrognathia, Midface retrusion, Prominent metopic ridge, Uplif...	OMIM:617746
Aortic Aneurysm, Familial Thoracic 4	Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce...	OMIM:132900
Momo Syndrome	Short sternum, Dental malocclusion, Brachycephaly, Downslanted palpebral fissures, High palate, L...	OMIM:157980
Marcus-Gunn Syndrome	Abnormal fifth cranial nerve morphology, Abnormal ear morphology, Abnormal heart morphology, Clef...	ORPHA:91412
Hypomandibular Faciocranial Dysostosis	Patent ductus arteriosus, Aplasia/Hypoplasia of the tongue, Death in infancy, Bifid uvula, Midfac...	ORPHA:1790
Branchiogenic-Deafness Syndrome	Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Preauricular pit, Mixed...	OMIM:609166
Distal 22Q11.2 Microdeletion Syndrome	Camptodactyly of finger, Sensorineural hearing impairment, Truncus arteriosus, Ventricular septal...	ORPHA:261330
Radio-Tartaglia Syndrome	Conductive hearing impairment, Wide nasal bridge, Epicanthus, Micrognathia, Prominent nasal tip, ...	OMIM:619312
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Conductive hearing impairment, Epicanthus, Blepharophimosis, Aplasia/Hypoplasia of the middle ear...	ORPHA:3236
Amelogenesis Imperfecta, Type Iiia	Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion	OMIM:130900
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Brachycephaly, Downslanted palpebral fissures, Hip contracture, Prominent nose, Plagiocephaly, Ep...	OMIM:616801
Teebi Hypertelorism Syndrome 2	High palate, Wide anterior fontanel, Delayed eruption of teeth, Microdontia, Short nose, Everted ...	OMIM:619736
Mandibulofacial Dysostosis, Guion-Almeida Type	Downslanted palpebral fissures, Conductive hearing impairment, Low-set ears, Deep philtrum, Micro...	OMIM:610536
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Brachycephaly, Sagittal craniosynostosis, Downslanted palpebral fissures, Scaphocephaly, Sparse e...	ORPHA:459061
Cleft Lip/Palate	Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Unilatera...	ORPHA:199306
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Downslanted palpebral fissures, Dental malocclusion, Mandibular prognathia, High palate, Epicanth...	OMIM:618292
Acrocraniofacial Dysostosis	Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia, Abnormality ...	ORPHA:949
Gillessen-Kaesbach-Nishimura Syndrome	Retrognathia, Underdeveloped nasal alae, Brachycephaly, Convex nasal ridge, Wide anterior fontane...	OMIM:263210
Catel-Manzke Syndrome	Cleft upper lip, Pierre-Robin sequence, High palate, Low-set ears, Ventricular septal defect, Mic...	OMIM:616145
Momo Syndrome	Short sternum, Dental malocclusion, Brachycephaly, Downslanted palpebral fissures, Thick upper li...	ORPHA:2563
Acrofacial Dysostosis, Catania Type	Webbed neck, Preauricular pit, Microretrognathia, Spina bifida occulta, Abnormal palate morpholog...	ORPHA:1786
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Congenitally Uncorrected Transposition Of The Great Arteries	Patent ductus arteriosus, Levotransposition of the great arteries, Ventricular septal defect, Abn...	ORPHA:860
Facial Paresis, Hereditary Congenital, 3	Lagophthalmos, Sensorineural hearing impairment, High palate, Epicanthus, Micrognathia, Midface r...	OMIM:614744
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis med...	OMIM:618254
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Brachycephaly, Flat face, Wide nasal bridge, Short ribs, Small for gestational age, Micrognathia,...	OMIM:616897
Chromosome 3Q29 Duplication Syndrome	Short palpebral fissure, Downslanted palpebral fissures, Abnormally large globe, Wide nasal bridg...	OMIM:611936
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection	OMIM:617349
Bangstad Syndrome	Small for gestational age, Abnormally large globe, Convex nasal ridge, Retrognathia	OMIM:210740
Intellectual Disability And Myopathy Syndrome	Incisor macrodontia, Dental malocclusion, Flat face, Congenital hip dislocation, Thin upper lip v...	OMIM:619719
Acrocardiofacial Syndrome	Camptodactyly of finger, Cleft upper lip, Hyperthyroidism, Truncus arteriosus, Ventricular septal...	ORPHA:2008
Aortic Aneurysm, Familial Abdominal, 1	Abdominal aortic aneurysm	OMIM:100070
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly, Telecanthus, Downslanted palpebral fissures, Thickened helices, Epicanthus, Synoph...	OMIM:618828
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Retrognathia, Brachycephaly, Downslanted palpebral fissures, Macrotia, Decreased body weight, Hig...	OMIM:617452
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Knee flexion contracture, Mandibular prognathia, Sensorineural hearing impairment, Camptodactyly,...	ORPHA:435938
Perlman Syndrome	Retrognathia, Wide nasal bridge, Epicanthus, Micrognathia, Broad alveolar ridges, Dolichocephaly,...	ORPHA:2849
Gómez-López-Hernández Syndrome	Brachycephaly, Turricephaly, Midface retrusion, Thin vermilion border, Anteverted nares, Low-set ...	ORPHA:1532
Cornelia De Lange Syndrome 2	Brachycephaly, Downslanted palpebral fissures, High palate, Limited elbow movement, Small hand, M...	OMIM:300590
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Cleft upper lip, Macrotia, Hypogonadism, Hypodontia, Abnormality of dental morphology, Anodontia,...	ORPHA:3253
Cardiofaciocutaneous Syndrome	Macrotia, High palate, Long philtrum, Optic atrophy, Webbed neck, Pulmonic stenosis, Submucous cl...	ORPHA:1340
Burning Mouth Syndrome	Abnormality of somatosensory evoked potentials, Abnormality of taste sensation, Abnormal fifth cr...	ORPHA:353253
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Long philtrum, Wide nasal bridge, Ulnar deviation of the wrist, Mic...	OMIM:618577
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Monosomy 18P	Abnormal antihelix morphology, Brachycephaly, Macrotia, Wide nasal bridge, Epicanthus, Micrognath...	ORPHA:1598
Burn-Mckeown Syndrome	Underdeveloped nasal alae, Short palpebral fissure, Cleft upper lip, Conductive hearing impairmen...	OMIM:608572
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Three M Syndrome 2	Dental malocclusion, Short 5th finger, High palate, Long philtrum, Delayed eruption of teeth, Sma...	OMIM:612921
Heart And Brain Malformation Syndrome	Camptodactyly of finger, Wide anterior fontanel, Ventricular septal defect, Limb hypertonia, Thic...	OMIM:616920
Pde4D Haploinsufficiency Syndrome	Brachycephaly, Micrognathia, Prominent nasal tip, Hearing impairment, Posteriorly rotated ears, A...	ORPHA:439822
Cataract-Intellectual Disability-Hypogonadism Syndrome	Abnormal antihelix morphology, Brachycephaly, High palate, Furrowed tongue, Micrognathia, Midface...	ORPHA:1387
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Mandibulofacial Dysostosis With Alopecia	Lower eyelid coloboma, Conductive hearing impairment, Sparse eyelashes, Delayed eruption of prima...	OMIM:616367
Congenitally Corrected Transposition Of The Great Arteries	Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo...	ORPHA:216694
Oligodontia	Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho...	ORPHA:99798
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Conductive hearing impairment, Congenital stapes ankylosis, Proximal/middle sym...	OMIM:184460
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Retrognathia, Double outlet right ventricle, Leukopenia, Ventricular septal defect, Hypodontia, P...	OMIM:301056
Kbg Syndrome	Underdeveloped nasal alae, Vertebral fusion, Macrotia, Bilateral conductive hearing impairment, L...	ORPHA:2332
Branchiootic Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Preauricular pit, Micrognathia, ...	ORPHA:52429
Cri-Du-Chat Syndrome	Short metatarsal, Downslanted palpebral fissures, High palate, Wide nasal bridge, Short metacarpa...	OMIM:123450
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment	OMIM:601071
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Epicanthus, Short nose, Delayed eruption of permanent teeth, Anteverted nares, Trigon...	OMIM:618506
Frontometaphyseal Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Wide nasal bridge, Delayed eruption of teeth,...	OMIM:305620
Apert Syndrome	Dental malocclusion, Mandibular prognathia, Narrow palate, Ventricular septal defect, Ectopic anu...	OMIM:101200
Edinburgh Malformation Syndrome	Respiratory insufficiency, Micrognathia, Synophrys, Short nose, Frontal bossing, Failure to thriv...	ORPHA:1895
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Conductive hearing impairment, Webbed neck, Ventricular septal defect, Wide mouth, Widely spaced ...	OMIM:280000
Oculoauriculofrontonasal Syndrome	Underdeveloped nasal alae, Wide nose, Conductive hearing impairment, Microtia, Micrognathia, Limb...	ORPHA:398156
Hajdu-Cheney Syndrome	Abnormal mandible morphology, Micrognathia, Short neck, Thin vermilion border, Cleft palate, Sple...	ORPHA:955
Multiple Synostoses Syndrome 4	Otosclerosis	OMIM:617898
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Respiratory insufficiency, Sensorineural hearing impairment, Death in infancy, Peri...	OMIM:608779
Uruguay Faciocardiomusculoskeletal Syndrome	Retrognathia, Wide nose, Downslanted palpebral fissures, Prominent nose, Limited elbow movement, ...	OMIM:300280
Cardiospondylocarpofacial Syndrome	Fusion of middle ear ossicles, Conductive hearing impairment, Epicanthus, Enlarged vestibular aqu...	OMIM:157800
Potocki-Shaffer Syndrome	Underdeveloped nasal alae, Brachycephaly, Parietal foramina, Epicanthus, Micrognathia, Short phil...	ORPHA:52022
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Midface retrusion, Posteriorly rotated ears, Ventricular septal defect, Reduced alpha/beta synthe...	OMIM:301040
Mandibuloacral Dysplasia	Delayed cranial suture closure, Abnormally large globe, High palate, Micrognathia, Narrow nose, A...	ORPHA:2457
Lateral Meningocele Syndrome	Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,...	OMIM:130720
2Q32Q33 Microdeletion Syndrome	Brachycephaly, Downslanted palpebral fissures, Convex nasal ridge, High palate, Long philtrum, Mi...	ORPHA:251019
Deafness, Conductive, With Malformed External Ear	Low-set ears, Conductive hearing impairment, Abnormal pinna morphology, Abnormality of the middle...	OMIM:221300
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Atrioventricular canal defect, Micrognathia, Pulmonary artery dilatation, Pleural effus...	OMIM:265380
Hamamy Syndrome	Neck pterygia, Brachycephaly, Wide nasal bridge, Micrognathia, Everted lower lip vermilion, Smoot...	OMIM:611174
Splenogonadal Fusion With Limb Defects And Micrognathia	Micrognathia, Multiple unerupted teeth, Stillbirth	OMIM:183300
Chung-Jansen Syndrome	Macrotia, High palate, Long philtrum, Epicanthus, Micrognathia, Synophrys, Short philtrum, Short ...	OMIM:617991
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short toe, Genu valgum, Flat face, Patellar dislocation, Capitate-hamate fusion, Wide nasal bridg...	OMIM:614078
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microtia, Aganglionic megacolon, Short philtrum, Hydrocele testis, Microre...	OMIM:613603
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Optic atrophy, Micrognathia, Short nose, Recurrent pneumonia, Abnormal p...	ORPHA:1495
Short Syndrome	Underdeveloped nasal alae, Dental malocclusion, Macrotia, Sensorineural hearing impairment, Wide ...	OMIM:269880
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Convex nasal ridge, Abnormality of upper lip vermillion, Micrognathia, Microdontia, Cleft palate,...	ORPHA:251028
Grant Syndrome	Brachycephaly, Flat face, Joint dislocation, Micrognathia, Frontal bossing, Depressed nasal bridg...	ORPHA:2097
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Downslanted palpebral fissures, Abnormally large globe, High palate, Micrognathia, Midface retrus...	ORPHA:1655
Zimmermann-Laband Syndrome	Wide nose, Downslanted palpebral fissures, Sensorineural hearing impairment, High palate, Wide mo...	ORPHA:3473
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Antley-Bixler Syndrome	Delayed cranial suture closure, Camptodactyly of finger, Brachycephaly, Downslanted palpebral fis...	ORPHA:83
Apert Syndrome	Respiratory insufficiency, Conductive hearing impairment, Convex nasal ridge, Optic atrophy, Dela...	ORPHA:87
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Delayed closure of the anterior fontanelle, Conductive hearing impair...	OMIM:300373
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Downslanted palpebral fissures, Hypoventilation, Aspiration pneumonia, Sparse lateral eyebrow, EE...	ORPHA:314655
Mulibrey Nanism	Wide nose, Enamel hypoplasia, Dental malocclusion, Wide nasal bridge, Hypoplastic frontal sinuses...	OMIM:253250
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Dental malocclusion, Sensorineural hearing impairment, Wide nasal bridge, Epicanthus, Blepharophi...	ORPHA:85321
22Q11.2 Deletion Syndrome	Meningocele, Hypothyroidism, Conductive hearing impairment, Hypoplasia of the thymus, Truncus art...	ORPHA:567
Hao-Fountain Syndrome	Delayed cranial suture closure, Central sleep apnea, Large fontanelles, Trigonocephaly, Low-set ears	OMIM:616863
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Pulmonary arterial hypertension, Retrognathia, Downslanted palpebral fissures, Mandibular prognat...	ORPHA:391372
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Al Kaissi Syndrome	Brachycephaly, Downslanted palpebral fissures, Decreased body weight, Small hand, Wide nasal brid...	OMIM:617694
Oculocerebrofacial Syndrome, Kaufman Type	Brachycephaly, Optic atrophy, Epicanthus, Micrognathia, Abnormal lip morphology, Microdontia, Smo...	ORPHA:2707
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Au-Kline Syndrome	Lagophthalmos, Plagiocephaly, Bifid tongue, Bifid uvula, Prominent metopic ridge, Cleft palate, D...	OMIM:616580
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Brachycephaly, Hooded eyelid, Delayed closure of the anterior fontanelle, Short 5th finger, Plagi...	OMIM:610759
Tetrasomy 5P	Pulmonary arterial hypertension, Flat face, High palate, Wide anterior fontanel, Wide nasal bridg...	ORPHA:3309
Intellectual Disability, Buenos-Aires Type	Dental malocclusion, Downslanted palpebral fissures, Macrotia, Mandibular prognathia, High palate...	ORPHA:3079
Pontocerebellar Hypoplasia, Type 3	Brachycephaly, Macrotia, Decreased body weight, High palate, Optic atrophy, Long philtrum, Long p...	OMIM:608027
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Hypoplasia of the thymus, Joint contracture of the hand, Micrognathia, Cam...	OMIM:214110
Trisomy 13	Patent ductus arteriosus, Abnormal antihelix morphology, Sensorineural hearing impairment, Long p...	ORPHA:3378
Brooke-Spiegler Syndrome	Abnormality of the neck, Abnormality of the sublingual glands, Abnormality of the auditory canal,...	ORPHA:79493
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Decreased body weight, Wide nasal bridge, Epicanthus, Micrognathia, Everted lower lip vermilion, ...	OMIM:618342
Intellectual Developmental Disorder, X-Linked 91	Short 5th finger, Short foot, Small hand, Epicanthus, High palate, Short nose, Cubitus valgus, Ob...	OMIM:300577
Chromosome 5P13 Duplication Syndrome	Brachycephaly, Short palpebral fissure, High palate, Turricephaly, Wide nasal bridge, Epicanthus,...	OMIM:613174
Congenital Heart Defects, Multiple Types, 2	Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A...	OMIM:614980
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Dental malocclusion, Mandibular prognathia, EEG abnormality, Short distal phalanx of finger, Abno...	ORPHA:1858
Trichorhinophalangeal Syndrome Type 2	Genu valgum, Conductive hearing impairment, Joint dislocation, Long philtrum, Wide nasal bridge, ...	ORPHA:502
Kleefstra Syndrome 1	Brachycephaly, Tracheobronchomalacia, Mandibular prognathia, Flat face, Natal tooth, Synophrys, M...	OMIM:610253
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Dental malocclusion, Downslanted palpebral fissures, Conductive hearing impairment, Joint contrac...	OMIM:608257
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Micrognathia, Short philtrum, Tracheoesophageal fi...	ORPHA:958
Turnpenny-Fry Syndrome	Brachycephaly, Conductive hearing impairment, Decreased body weight, Plagiocephaly, Microdontia, ...	OMIM:618371
Heterotaxy, Visceral, 1, X-Linked	Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Right atrial isomerism, Dou...	OMIM:306955
Acrocephalopolydactyly	Oxycephaly, Depressed nasal ridge, Microtia, Epicanthus, Short nose, Premature closure of fontane...	ORPHA:221054
Brachycephaly, Trichomegaly, And Developmental Delay	Conductive hearing impairment, High palate, Epicanthus, Thick lower lip vermilion, Synophrys, Bif...	OMIM:617412
Halperin-Birk Syndrome	Flexion contracture, High palate, Optic atrophy, Perimembranous ventricular septal defect, Aspira...	OMIM:618651
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Patent ductus arteriosus, Macrotia, Widely spaced teeth, Thick lower lip vermilion, Delayed erupt...	OMIM:619797
German Syndrome	Camptodactyly of finger, Hearing abnormality, Brachycephaly, Abnormal eyebrow morphology, Downsla...	ORPHA:2077
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Underdeveloped nasal alae, Brachycephaly, Upslanted palpebral fissure, Conical tooth, Coronal cra...	ORPHA:228390
Digeorge Syndrome	Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Micrognathia, Bifid uvula, Recurren...	OMIM:188400
Lujan-Fryns Syndrome	Camptodactyly of finger, Brachycephaly, High palate, Micrognathia, Dental crowding, Short philtru...	ORPHA:776
Abruzzo-Erickson Syndrome	Short toe, Flat face, Macrotia, Sensorineural hearing impairment, Conductive hearing impairment, ...	ORPHA:921
Marshall Syndrome	Thick upper lip vermilion, High palate, Long philtrum, Hypoplastic frontal sinuses, Sensorineural...	ORPHA:560
Chromosome 18Q Deletion Syndrome	Ascending tubular aorta aneurysm, Conductive hearing impairment, Optic atrophy, Bifid uvula, Midf...	OMIM:601808
Smith-Magenis Syndrome	Brachycephaly, Mandibular prognathia, Everted upper lip vermilion, Wide nasal bridge, EEG abnorma...	OMIM:182290
Carey-Fineman-Ziter Syndrome 2	Underdeveloped nasal alae, Abnormal nasal septum morphology, Hooded upper eyelid, Long philtrum, ...	OMIM:619941
Recombinant 8 Syndrome	Camptodactyly of finger, Abnormality of the anus, Micrognathia, Abnormal oral frenulum morphology...	ORPHA:96167
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Abnormal vestib...	OMIM:616515
Distal Monosomy 17Q	Patent ductus arteriosus, Abnormality of the philtrum, Respiratory insufficiency, Optic atrophy, ...	ORPHA:1597
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Retrognathia, Wide nose, Brachycephaly, Macrotia, Decreased body weight, Downslanted palpebral fi...	ORPHA:505237
Autosomal Recessive Omodysplasia	Rhizomelia, Long philtrum, Micrognathia, Pterygium, Micromelia, Elbow dislocation, Short nose, Hy...	ORPHA:93329
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal antihelix morphology, Mandibular prognathia, Conductive hearing impairment, Aplasia/Hypo...	ORPHA:3082
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Retrognathia, High palate, Sensorineural hearing impairment, Broad neck...	OMIM:300472
Chromosome 2P16.1-P15 Deletion Syndrome	Brachycephaly, Wide nasal bridge, Epicanthus, EEG abnormality, Prominent nasal tip, Optic nerve h...	OMIM:612513
Ring Chromosome 8 Syndrome	Round ear, Epicanthus, Frontal bossing, Short nose, Abnormal palate morphology, Anteverted nares	ORPHA:1450
Trichorhinophalangeal Syndrome, Type I	Dental malocclusion, Macrotia, Sparse lateral eyebrow, Narrow palate, Short metacarpal, Delayed e...	OMIM:190350
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Hypothyroidism, Ascending tubular aorta aneurysm, Abnormal autonom...	ORPHA:453499
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Cleft mandible, Prominence of the zygomatic bone, Synophrys, Everted lower lip vermilion, Promine...	ORPHA:364577
Osteogenesis Imperfecta, Type Xx	Retrognathia, Brachycephaly, Mandibular prognathia, Plagiocephaly, Sparse lateral eyebrow, Narrow...	OMIM:618644
Orofaciodigital Syndrome Type 1	Pancreatic cysts, Lobulated tongue, Lip pit, Vascular dilatation, High palate, Tongue nodules, Br...	ORPHA:2750
Intellectual Developmental Disorder, Autosomal Dominant 66	Aortic root aneurysm, Secundum atrial septal defect, Cerebral cavernous malformation, Low-set ear...	OMIM:619910
Cooper-Jabs Syndrome	Respiratory insufficiency, Camptodactyly of finger, Brachycephaly, Conductive hearing impairment,...	ORPHA:1488
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Brachycephaly, Downslanted palpebral fissures, High palate, Long philtrum, Midface retrusion, Sho...	OMIM:615539
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Wide nasal bridge, Optic atrophy, Frontal bossing, Depressed nasal bridge, Bilater...	OMIM:264470
Keppen-Lubinsky Syndrome	Respiratory insufficiency, Underdeveloped nasal alae, Abnormally large globe, High palate, Narrow...	ORPHA:435628
Branchiootorenal Syndrome 1	Conductive hearing impairment, Hypoplasia of the cochlea, Microdontia, Bifid uvula, Cholesteatoma...	OMIM:113650
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Hypothyroidism, Microdontia, Supernumerary nipple, Cryptorchidism, Hypoplasia of th...	ORPHA:1812
Meacham Syndrome	Aplasia of the left hemidiaphragm, Ventricular septal defect, Atrial septal defect, Aplasia of th...	OMIM:608978
16P11.2P12.2 Microdeletion Syndrome	Camptodactyly of finger, Downslanted palpebral fissures, Flat face, Absent nasal bridge, Epicanth...	ORPHA:261211
Frontonasal Dysplasia 2	Brachycephaly, Conical tooth, Aplasia of the nasal bone, Wide nasal bridge, Broad columella, Depr...	OMIM:613451
Postaxial Acrofacial Dysostosis	Camptodactyly of finger, Downslanted palpebral fissures, Non-midline cleft lip, Conductive hearin...	ORPHA:246
Prolidase Deficiency	Micrognathia, Abnormality of the middle ear, Hypoplasia of the zygomatic bone, Carious teeth, Hea...	ORPHA:742
Noonan Syndrome 4	Dental malocclusion, Downslanted palpebral fissures, Sparse eyebrow, Bilateral ptosis, Epicanthus...	OMIM:610733
Fanconi Anemia, Complementation Group S	Underdeveloped nasal alae, Dental malocclusion, Thick upper lip vermilion, Narrow palate, Epicant...	OMIM:617883
Otopalatodigital Syndrome, Type I	Delayed closure of the anterior fontanelle, Conductive hearing impairment, Short 4th metacarpal, ...	OMIM:311300
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Brachycephaly, Horizontal eyebrow, Wide nasal bridge, Epicanthus, Synophrys, Large fleshy ears, T...	ORPHA:352530
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Retrognathia, High palate, Sensorineural hearing impairment, Low-set ea...	ORPHA:52055
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Macrotia, Aplasia/Hypoplasia of the eyebrow, Abnormality of the elbow, Deep philtrum, Epicanthus,...	ORPHA:2701
Bor Syndrome	Retrognathia, Abnormality of the middle ear ossicles, Facial palsy, Hypoplasia of the cochlea, En...	ORPHA:107
Microphthalmia With Limb Anomalies	Hip dislocation, Metatarsal synostosis, Abnormal eyelash morphology, Cleft palate, Posteriorly ro...	OMIM:206920
Absence Of The Pulmonary Artery	Patent ductus arteriosus, Patent foramen ovale, Cardiomegaly, Truncus arteriosus, Abnormal cardia...	ORPHA:980
Baraitser-Winter Syndrome 1	Retrognathia, Cleft upper lip, Sensorineural hearing impairment, Long philtrum, Wide nasal bridge...	OMIM:243310
Char Syndrome	Patent ductus arteriosus, Short philtrum, Triangular mouth, Low-set ears, Protruding ear	OMIM:169100
Ayme-Gripp Syndrome	Delayed cranial suture closure, Brachycephaly, Wide nasal bridge, Broad eyebrow, Midface retrusio...	OMIM:601088
Ohdo Syndrome	Sparse eyebrow, Long philtrum, Wide nasal bridge, Microtia, Epicanthus, Micrognathia, Blepharophi...	OMIM:249620
Keppen-Lubinsky Syndrome	Respiratory insufficiency, Underdeveloped nasal alae, Abnormally large globe, High palate, Narrow...	OMIM:614098
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op...	OMIM:125500
Thakker-Donnai Syndrome	Macrotia, Webbed neck, Ventricular septal defect, Rectovaginal fistula, Anal atresia, Tracheoesop...	ORPHA:1780
Lateral Meningocele Syndrome	Downslanted palpebral fissures, Conductive hearing impairment, Sensorineural hearing impairment, ...	ORPHA:2789
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Brachycephaly, Downslanted palpebral fissures, Macrotia, High palate, Frontal bossing, Thin upper...	ORPHA:314575
Faciodigitogenital Syndrome, Autosomal Recessive	Brachycephaly, Dental malocclusion, Vertebral fusion, Downslanted palpebral fissures, Narrow pala...	OMIM:227330
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Patent ductus arteriosus, Retrognathia, Macrotia, High palate, Ventricular septal defect, Dimple ...	OMIM:618142
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Raine Syndrome	Brachycephaly, Plagiocephaly, Micrognathia, Microdontia, Midface retrusion, Large fontanelles, Cl...	OMIM:259775
Williams-Beuren Region Duplication Syndrome	Brachycephaly, Horizontal eyebrow, High palate, Small for gestational age, Micrognathia, Long eye...	OMIM:609757
9P13 Microdeletion Syndrome	Brachycephaly, High palate, Wide nasal bridge, Epicanthus, Hand tremor, Microretrognathia, Abnorm...	ORPHA:324313
Chromosome 22Q11.2 Duplication Syndrome	Downslanted palpebral fissures, High palate, Depressed nasal ridge, Epicanthus, Micrognathia, Vel...	OMIM:608363
Stevenson-Carey Syndrome	Underdeveloped nasal alae, Brachycephaly, Downslanted palpebral fissures, Pierre-Robin sequence, ...	OMIM:611961
Developmental And Epileptic Encephalopathy 63	Conductive hearing impairment, EEG with generalized epileptiform discharges, Long philtrum, Midfa...	OMIM:617976
Lambert Syndrome	Branchial anomaly, Wide mouth, Ventricular septal defect, Preauricular skin tag, Malar flattening	ORPHA:1296
Dysostosis, Stanescu Type	Midface retrusion, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Carious teeth, Ab...	ORPHA:1798
Transaldolase Deficiency	Patent ductus arteriosus, Patent foramen ovale, Splenomegaly, Anemia, Wide anterior fontanel, Dee...	OMIM:606003
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Anemia, Conductive hearing impairment, Low-set ears, Broad neck, Microt...	OMIM:613309
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Retrognathia, Downslanted palpebral fissures, Short nose, Broad nasal tip, Malar flattening, Open...	OMIM:613670
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Brachycephaly, Wide nasal bridge, Micrognathia, Bifid uvula, Abnormal oral frenulum morphology, S...	ORPHA:404440
Down Syndrome	Atrioventricular canal defect, Hypothyroidism, Conductive hearing impairment, Redundant neck skin...	OMIM:190685
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Double outlet right ventricle, High palate, Long philtrum, Ventricular sept...	OMIM:616652
Aortic Aneurysm, Familial Thoracic 12	Aortic root aneurysm, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Ascending aortic d...	OMIM:619825
Pfeiffer Syndrome	Hypoplasia of the zygomatic bone, Mandibular prognathia	ORPHA:710
Cardiofaciocutaneous Syndrome 1	Epicanthus, Micrognathia, Hearing impairment, Posteriorly rotated ears, Dolichocephaly, Short nos...	OMIM:115150
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Mosaic Trisomy 14	Camptodactyly of finger, High palate, Wide nasal bridge, Microtia, Blepharophimosis, Micrognathia...	ORPHA:1703
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Retrognathia, Sensorineural hearing impairment, Ventricular septal defe...	OMIM:612938
Congenital Myopathy 17	Respiratory insufficiency, Dental malocclusion, Downslanted palpebral fissures, Mandibular progna...	OMIM:618975
Cutis Laxa, Autosomal Recessive, Type Iia	Downslanted palpebral fissures, Flat face, High palate, Wide anterior fontanel, Long philtrum, Mi...	OMIM:219200
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Downslanted palpebral fissures, Conductive hearing impairment, High palate, Rhizomelia, Micrognat...	OMIM:602471
Trichothiodystrophy 9, Nonphotosensitive	Dental malocclusion, High, narrow palate, Sparse eyebrow, Epicanthus	OMIM:619692
Multiple Pterygium-Malignant Hyperthermia Syndrome	Camptodactyly of finger, Abnormal mandible morphology, Prominence of the zygomatic bone, Conducti...	ORPHA:2215
Hennekam-Beemer Syndrome	Respiratory insufficiency, Delayed cranial suture closure, Camptodactyly of finger, Conductive he...	ORPHA:2135
Aortic Arch Interruption	Patent ductus arteriosus, Double outlet right ventricle, Abnormal ascending aorta morphology, Aor...	ORPHA:2299
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal antihelix morphology, Downslanted palpebral fissures, Mandibular prognathia, Epicanthus,...	ORPHA:261144
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Brachycephaly, Genu valgum, Mandibular prognathia, Plagiocephaly, Long philtrum, Midface retrusio...	OMIM:619721
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Hypothyroidism, Conductive hearing impairment, Bifid tongue, Exaggerated median tongue furrow, Bi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Hypothyroidism, Conductive hearing impairment, Bifid tongue, Exaggerated median tongue furrow, Bi...	ORPHA:352665
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Abnormally large globe, High palate, Optic atrophy, Synophrys, Broad alveolar ridges, Protruding ear	OMIM:300004
Phenobarbital Embryopathy	Mandibular prognathia, Abnormal mitral valve morphology, Malar flattening, Tetralogy of Fallot, L...	ORPHA:1919
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Brachycephaly, Choanal stenosis, Wide anterior fontanel, Humeroradial synostosis, Long philtrum, ...	OMIM:207410
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Delayed cranial suture closure, Downslanted palpebral fissures, Micrognathia, Midface retrusion, ...	ORPHA:1129
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Brachycephaly, Flat face, Sensorineural hearing impairment, Abnormal auditory evoked potentials, ...	OMIM:109120
Codas Syndrome	Flat face, Sensorineural hearing impairment, Short metacarpal, Delayed eruption of teeth, Crumple...	ORPHA:1458
Takenouchi-Kosaki Syndrome	Wide nasal bridge, Optic atrophy, Synophrys, Midface retrusion, Smooth philtrum, Eversion of late...	OMIM:616737
Craniofrontonasal Dysplasia	Camptodactyly of finger, Brachycephaly, Downslanted palpebral fissures, Sensorineural hearing imp...	ORPHA:1520
Johnson Neuroectodermal Syndrome	Downslanted palpebral fissures, Conductive hearing impairment, Microtia, Absent eyelashes, Facial...	ORPHA:2316
Charge Syndrome	Hypothyroidism, Gonadotropin deficiency, Micrognathia, Secundum atrial septal defect, Lop ear, Pa...	OMIM:214800
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Bilateral conductive hearing impairment, Natal tooth, Micrognathia, Long eyelashes, Interictal ep...	OMIM:617802
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Atrioventricular canal defect, Mandibular prognathia, Long philtrum, Truncus arteriosus, Ventricu...	ORPHA:508498
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Otosclerosis, Hearing impairment	OMIM:166220
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Camptodactyly of finger, Dental malocclusion, Downslanted palpebral fissures, High palate, Short ...	OMIM:612350
Mosaic Variegated Aneuploidy Syndrome 2	Short palpebral fissure, Downslanted palpebral fissures, Round ear, Rhizomelia, Epicanthus, Small...	OMIM:614114
Cerebrooculonasal Syndrome	Brachycephaly, Sparse eyebrow, Abnormal nostril morphology, Macrotia, Upslanted palpebral fissure...	ORPHA:66625
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve stenosis, P...	OMIM:615415
Pentasomy X	Patent ductus arteriosus, Camptodactyly of finger, Abnormal cardiac septum morphology, Micrognath...	ORPHA:11
Igg4-Related Aortitis	Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, Dilated left subclav...	ORPHA:449400
Meier-Gorlin Syndrome 6	Conductive hearing impairment, Midface retrusion, Cleft palate, Posteriorly rotated ears, Short n...	OMIM:616835
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Delayed cranial suture closure, Brachycephaly, Plagiocephaly, Micrognathia, Large posterior fonta...	ORPHA:85199
2P15P16.1 Microdeletion Syndrome	Camptodactyly of finger, Brachycephaly, Patellar dislocation, Wide nasal bridge, Epicanthus, Opti...	ORPHA:261349
Cardiocranial Syndrome, Pfeiffer Type	Sagittal craniosynostosis, Plantar flexion contracture, Downslanted palpebral fissures, Wide nasa...	ORPHA:2872
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Ventricular septal defect, Recurrent otitis media, Dextrotransposition of the great ...	OMIM:619995
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Dental malocclusion, High palate, Optic atrophy, Deep philtrum, EEG with burst suppression, Micro...	ORPHA:329178
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Ascending tubular aorta aneurysm, Truncus arteriosus, Microdontia, Micrognathia, Bifid uvula, Cam...	OMIM:612474
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Downslanted palpebral fissures, High palate, Long philtrum, Epicanthus, Micrognathia, Synophrys, ...	ORPHA:480907
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, High palate, Progressive hearing impairment, Brachyturricephaly, Delay...	OMIM:613849
Severe X-Linked Intellectual Disability, Gustavson Type	Small fontanelle, Macrotia, Optic atrophy, Small for gestational age, Micrognathia, Apneic episod...	ORPHA:3078
6Q25 Microdeletion Syndrome	Camptodactyly of finger, Downslanted palpebral fissures, Upslanted palpebral fissure, Sensorineur...	ORPHA:251056
Arthrogryposis, Distal, Type 2A	Wrist flexion contracture, Wide nasal bridge, Epicanthus, Abnormal auditory evoked potentials, El...	OMIM:193700
Agnathia-Otocephaly Complex	Wide nose, Downslanted palpebral fissures, Conductive hearing impairment, Mandibular aplasia, Mic...	OMIM:202650
Skin Creases, Congenital Symmetric Circumferential, 1	Brachycephaly, Short palpebral fissure, Flat face, High palate, Long philtrum, Epicanthus, Blepha...	OMIM:156610
Oculofaciocardiodental Syndrome	Patent ductus arteriosus, Tooth malposition, Sensorineural hearing impairment, Long philtrum, Abn...	ORPHA:2712
Oculoauriculovertebral Spectrum With Radial Defects	Atresia of the external auditory canal, Non-midline cleft lip, Atrioventricular canal defect, Con...	ORPHA:2549
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Hypoplasia of the zygomatic bone	ORPHA:1295
Non-Distal Trisomy 13Q	Abnormal antihelix morphology, High palate, Long philtrum, Aplasia/Hypoplasia of the earlobes, Mi...	ORPHA:1702
Li-Campeau Syndrome	Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Long philtrum, Ventricular septal...	OMIM:619189
Chromosome 6Q11-Q14 Deletion Syndrome	High palate, Long philtrum, Epicanthus, Micrognathia, Short nose, Thin upper lip vermilion, Broad...	OMIM:613544
8Q12 Microduplication Syndrome	Brachycephaly, Sensorineural hearing impairment, Long philtrum, Wide nasal bridge, Epicanthus, Lo...	ORPHA:228399
Trisomy 10P	Epicanthus, Micrognathia, Abnormal auditory evoked potentials, Abnormal lip morphology, Thin verm...	ORPHA:171929
Acrodysostosis 1 With Or Without Hormone Resistance	Brachycephaly, Dental malocclusion, Mandibular prognathia, Short metacarpal, Delayed eruption of ...	OMIM:101800
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Episodic tachypnea, Micrognathia, Apneic episodes in infancy, Short nose, Frontal b...	ORPHA:163961
Desanto-Shinawi Syndrome	Brachycephaly, Sensorineural hearing impairment, Synophrys, Midface retrusion, Thin upper lip ver...	OMIM:616708
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Periorbital dermoid cyst, Dental malocclusion, Lacrimal duct stenosis, Conjunctivitis, Wide nasal...	OMIM:615560
Cerebrooculonasal Syndrome	Brachycephaly, Conductive hearing impairment, Epicanthus, Optic nerve hypoplasia, Sparse eyelashe...	OMIM:605627
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Distal Trisomy 18Q	Camptodactyly of finger, High palate, Micrognathia, Abnormality of dental morphology, Dolichoceph...	ORPHA:1716
Smith-Magenis Syndrome	Brachycephaly, Conductive hearing impairment, Wide nasal bridge, EEG abnormality, Micrognathia, S...	ORPHA:819
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Conjunctivitis, Downslanted palpebral fissures, Flat face, Long philtrum, Wide nasal bridge, Micr...	OMIM:602562
Hajdu-Cheney Syndrome	Conductive hearing impairment, Epicanthus, Micrognathia, Synophrys, Dislocated radial head, Thick...	OMIM:102500
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormally large globe, Macrotia, Increased overbite	OMIM:618504
Chromosome 2Q37 Deletion Syndrome	Wide nose, Short toe, Short metatarsal, Brachycephaly, Sensorineural hearing impairment, Short me...	OMIM:600430
Acrodysostosis	Brachycephaly, Short toe, Mandibular prognathia, Depressed nasal ridge, Wide nasal bridge, Delaye...	ORPHA:950
Congenital Myopathy 19	Respiratory insufficiency, High palate, Depressed nasal ridge, Micrognathia, Triangular face, Pto...	OMIM:618578
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
7Q11.23 Microduplication Syndrome	Brachycephaly, Short lingual frenulum, Micrognathia, Abnormal optic disc morphology, Thin vermili...	ORPHA:96121
Pseudodiastrophic Dysplasia	Brachycephaly, Rhizomelia, Micrognathia, Hypoplasia of the odontoid process, Midface retrusion, E...	OMIM:264180
Bartsocas-Papas Syndrome 2	Wide anterior fontanel, Small hand, Ankyloblepharon, Micrognathia, Prominent occiput, Axillary pt...	OMIM:619339
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Patent ductus arteriosus, Double outlet right ventricle, Umbilical hernia, Thickened nuchal skin ...	OMIM:618164
Chromosome 13Q33-Q34 Deletion Syndrome	Brachycephaly, Irregular dentition, Wide nasal bridge, Delayed eruption of teeth, Epicanthus, Mic...	OMIM:619148
Auriculocondylar Syndrome 3	Retrognathia, Bilateral conductive hearing impairment, Micrognathia, Bifid uvula, Question mark e...	OMIM:615706
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Elsahy-Waters Syndrome	Brachycephaly, Wide nasal bridge, Delayed eruption of teeth, Synophrys, Bifid uvula, Midface retr...	OMIM:211380
Distal Monosomy 10Q	Brachycephaly, Wide nasal bridge, Epicanthus, Micrognathia, Hip dislocation, Morphological abnorm...	ORPHA:96148
Glycine Encephalopathy With Normal Serum Glycine	Retrognathia, Exaggerated startle response, Hip contracture, Optic atrophy, Elbow flexion contrac...	OMIM:617301
Oculoskeletodental Syndrome	Retrognathia, Enamel hypoplasia, Conductive hearing impairment, Sensorineural hearing impairment,...	ORPHA:557003
Multiple Pterygium Syndrome, Escobar Variant	Neck pterygia, Conductive hearing impairment, Epicanthus, Micrognathia, Dysplastic patella, Hip d...	OMIM:265000
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Patent ductus arteriosus, High palate, Long philtrum, Optic atrophy, Sensorineural hearing impair...	OMIM:220500
Mullegama-Klein-Martinez Syndrome	Sensorineural hearing impairment, Long philtrum, Abnormal cardiac septum morphology, Microtia, Pr...	OMIM:301022
Alazami Syndrome	Wide nose, Short palpebral fissure, Decreased body weight, Wide nasal bridge, Widely spaced teeth...	OMIM:615071
Rubinstein-Taybi Syndrome 1	Premature thelarche, Flexion contracture, Micrognathia, Spina bifida occulta, Aortic isthmus hypo...	OMIM:180849
Frontoocular Syndrome	Short palpebral fissure, High palate, Epicanthus, Coronal craniosynostosis, Micrognathia, Blephar...	OMIM:605321
17P11.2 Microduplication Syndrome	Downslanted palpebral fissures, EEG abnormality, Wide mouth, Micrognathia, Abnormality of dental ...	ORPHA:1713
Ogden Syndrome	Thick upper lip vermilion, Everted upper lip vermilion, Micrognathia, Secundum atrial septal defe...	OMIM:300855
Maxillonasal Dysplasia	Abnormal nostril morphology, Mandibular prognathia, Flat face, Depressed nasal ridge, Microdontia...	ORPHA:1248
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Metacarpal synostosis, Midface retrusion, Hearing impairment	ORPHA:35099
Phelan-Mcdermid Syndrome	Dental malocclusion, Macrotia, High palate, Long philtrum, Wide nasal bridge, Epicanthus, Widely ...	OMIM:606232
Williams Syndrome	Peptic ulcer, Hypothyroidism, Aortic arch aneurysm, Colonic diverticula, Precocious puberty, Abno...	ORPHA:904
Multiple Synostoses Syndrome 1	Thick upper lip vermilion, Stapes ankylosis, Conductive hearing impairment, Bilateral conductive ...	OMIM:186500
48,Xxxy Syndrome	Brachycephaly, Pulmonary embolism, Upslanted palpebral fissure, Mandibular prognathia, Depressed ...	ORPHA:96263
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Diamond-Blackfan Anemia 6	Patent ductus arteriosus, Retrognathia, Cleft upper lip, Ventricular hypertrophy, Ventricular sep...	OMIM:612561
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Downslanted palpebral fissures, Conductive hearing impairment, Microtia, Micrognathia, Midface re...	OMIM:300946
Achondrogenesis, Type Ii	Brachycephaly, Abnormally large globe, Long philtrum, Short ribs, Microretrognathia, Frontal boss...	OMIM:200610
Myopathy, Myofibrillar, 8	Dental malocclusion, High palate, Micrognathia, Ptosis, Restrictive ventilatory defect, Reduced v...	OMIM:617258
3P25.3 Microdeletion Syndrome	Brachycephaly, Epicanthus, Micrognathia, Cleft palate, Prominent nose, Blepharophimosis, Congenit...	ORPHA:435638
Aortic Aneurysm, Familial Thoracic 9	Aortic tortuosity, Mitral valve prolapse, Ascending aortic dissection, Thoracic aortic aneurysm	OMIM:616166
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Incisor macrodontia, Underdeveloped nasal alae, Exaggerated startle response, High palate, Wide n...	ORPHA:438216
Cree Mental Retardation Syndrome	Brachycephaly, Downslanted palpebral fissures, Cleft soft palate, Micrognathia, Aplasia/Hypoplasi...	OMIM:606851
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus, Ventricular septal defect, Oligodontia, Atrial septal defect, Thin uppe...	OMIM:618330
Leukodystrophy, Hypomyelinating, 10	Downslanted palpebral fissures, Long philtrum, Prominent eyelashes, Short nose, Triangular face, ...	OMIM:616420
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Pulmonary arterial hypertension, Wide nose, Deep philtrum, Microtia, Small for gestational age, S...	OMIM:613320
X-Linked Intellectual Disability, Porteous Type	Hypoplasia of the maxilla, Macrotia, Mandibular prognathia, Cupped ear	ORPHA:93945
Schinzel-Giedion Syndrome	Central hypothyroidism, Infantile sensorineural hearing impairment, Delayed eruption of teeth, Mi...	ORPHA:798
Maternal Phenylketonuria	Double outlet right ventricle, High palate, Long philtrum, Hypoplastic helices, Esophageal atresi...	ORPHA:2209
Rhizomelic Chondrodysplasia Punctata, Type 1	Respiratory insufficiency, Flat face, Sensorineural hearing impairment, Rhizomelia, Micrognathia,...	OMIM:215100
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Abnormal palate morphology, Short neck, Overfolded helix, Low-set ears,...	ORPHA:251046
Kaufman Oculocerebrofacial Syndrome	Brachycephaly, Epicanthus, Micrognathia, Smooth philtrum, Telecanthus, Blepharophimosis, Short no...	OMIM:244450
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Conductive hearing impairment, Abnormal eyelid morphology, Euryblepharon, Carious ...	ORPHA:1997
Branchiogenic Deafness Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os...	ORPHA:50815
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Long philtrum, Optic atrophy, Hyposegmentation of neutrophil nuclei, Short neck, Hypoplasia of th...	OMIM:614800
White-Sutton Syndrome	Brachycephaly, Micrognathia, Bifid uvula, Optic nerve hypoplasia, Hypoplastic cervical vertebrae,...	OMIM:616364
49,Xxxxy Syndrome	Brachycephaly, Delayed eruption of teeth, Epicanthus, Taurodontia, Hip dislocation, Elbow disloca...	ORPHA:96264
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
17P13.3 Microduplication Syndrome	Wide nose, Downslanted palpebral fissures, High palate, Frontal bossing, Short nose, Congenital h...	ORPHA:217385
Ventricular Septal Defect 1	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall...	OMIM:614429
Fatty Acyl-Coa Reductase 1 Deficiency	Macrotia, Long philtrum, Short nose, Ptosis, Depressed nasal bridge, Thin upper lip vermilion, Sm...	ORPHA:438178
Xq21 Microdeletion Syndrome	Stapes ankylosis, Conductive hearing impairment, Decreased response to growth hormone stimulation...	ORPHA:1435
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Conotruncal defect, Anotia, Microtia, Micrognathia, Bicuspid aortic val...	ORPHA:2306
Ravine Syndrome	Apnea, Failure to thrive, Decreased body weight, Abnormal auditory evoked potentials	ORPHA:99852
Martsolf Syndrome 1	Brachycephaly, Short toe, Downslanted palpebral fissures, Talipes valgus, High palate, Long philt...	OMIM:212720
Robinow Syndrome, Autosomal Dominant 3	Bifid tongue, Wide nasal bridge, Epicanthus, Micrognathia, Midface retrusion, Cleft palate, Gingi...	OMIM:616894
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Delayed cranial suture closure, Plagiocephaly, High palate, Wide nasal bridge, Epicanthus, Optic ...	OMIM:619383
Isolated Dandy-Walker Malformation	Tetralogy of Fallot, Encephalocele	ORPHA:217
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect, No permanent dentition, Short philtrum, Supe...	ORPHA:46627
Nabais Sa-De Vries Syndrome, Type 2	Failure to thrive in infancy, Sparse eyebrow, Prominent nose, High palate, Microtia, Prominent na...	OMIM:618829
Shprintzen-Goldberg Syndrome	Camptodactyly of finger, Conductive hearing impairment, Micrognathia, Elbow dislocation, Telecant...	ORPHA:2462
Trisomy 12P	Abnormal antihelix morphology, Flat face, Turricephaly, Wide nasal bridge, Epicanthus, Micrognath...	ORPHA:1699
Congenital Disorder Of Glycosylation, Type Iy	Joint dislocation, Macrotia, Wide mouth, Widely spaced teeth, Micrognathia, Respiratory distress,...	OMIM:300934
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio...	OMIM:204700
Parenti-Mignot Neurodevelopmental Syndrome	Microtia, Prominent nasal bridge, Micrognathia, Prominent nasal tip, Epicanthus, Synophrys, Short...	OMIM:619873
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Sensorineural hearing impairment, Torus palatinus	OMIM:144750
Acrofrontofacionasal Dysostosis 2	Wide nose, Brachycephaly, Downslanted palpebral fissures, High palate, Wide anterior fontanel, Pt...	OMIM:239710
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Double outlet right ventricle, Narrow palate, Decreased response to gro...	OMIM:618223
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Wide nose, Downslanted palpebral fissures, Decreased body weight, Long philtrum, Microtia, Microg...	ORPHA:357175
Craniofacioskeletal Syndrome	Patent ductus arteriosus, Absent gallbladder, Ventricular septal defect, Hypoplastic frontal sinu...	OMIM:300712
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val...	ORPHA:284169
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Midface retrusion	ORPHA:2776
Neurooculocardiogenitourinary Syndrome	Patent ductus arteriosus, Patent foramen ovale, Cardiomegaly, Sensorineural hearing impairment, V...	OMIM:618652
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Wide nasal bridge, Epicanthus, Micrognathia, Synophrys, Midface retrusion, Thick eyebrow, Short n...	OMIM:617061
17Q24.2 Microdeletion Syndrome	Wide nasal bridge, Micrognathia, Synophrys, Abnormality of the wrist, Midface retrusion, Abnormal...	ORPHA:529962
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Respiratory insufficiency, Hypoplasia of the thymus, Perianal abscess, Secundum atrial septal def...	OMIM:612541
Heart Defects, Congenital, And Other Congenital Anomalies	Patent ductus arteriosus, Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Pe...	OMIM:600001
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Patent ductus arteriosus, Ventricular septal defect, Optic atrophy, Preauricular pit, Microretrog...	ORPHA:457193
Noonan Syndrome 2	Atrioventricular canal defect, Micrognathia, Midface retrusion, Hypertrophic cardiomyopathy, Shor...	OMIM:605275
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Flat face, Bronchiectasis, Epicanthus, Micrognathia, Macroglossia, Short nose, Failure to thrive,...	OMIM:242860
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Retrognathia, High palate, Epicanthus, Short nose, Depressed nasal bridge, Recurrent upper respir...	OMIM:614069
Congenital Disorder Of Glycosylation, Type Ie	Patent ductus arteriosus, Knee flexion contracture, Optic atrophy, Muscular dystrophy, Micrognath...	OMIM:608799
Barber-Say Syndrome	Delayed eruption of teeth, Micrognathia, Sparse eyelashes, Gingival overgrowth, Telecanthus, Hear...	OMIM:209885
Otosclerosis 10	Otosclerosis	OMIM:615589
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short palpebral fissure, Pierre-Robin sequence, Wide anterior fontanel, Blepharophimosis, Microgn...	OMIM:217980
Phosphoribosylpyrophosphate Synthetase Superactivity	Abnormal aortic morphology, Cardiomyopathy	ORPHA:3222
Intellectual Developmental Disorder, Autosomal Dominant 1	Brachycephaly, Micrognathia, Microdontia, Midface retrusion, Everted lower lip vermilion, Thick e...	OMIM:156200
Sotos Syndrome	Conductive hearing impairment, Posteriorly rotated ears, Genu valgum, Narrow palate, Dolichocepha...	OMIM:117550
Intellectual Developmental Disorder, Autosomal Recessive 35	Wide nose, Downslanted palpebral fissures, Decreased body weight, Long philtrum, Microtia, Microg...	OMIM:615162
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Synophrys, Dental crowding, Short nose, Tented upper lip vermilion, Upslan...	OMIM:300143
Right Atrial Isomerism	Right atrial isomerism, Asplenia, Ventricular septal defect, Common atrium, Polysplenia, Atrial s...	OMIM:208530
Schuurs-Hoeijmakers Syndrome	Patent ductus arteriosus, Patent foramen ovale, Macrotia, Wide mouth, Abnormal cardiac septum mor...	OMIM:615009
Down Syndrome	Brachycephaly, Conductive hearing impairment, Epicanthus, Microdontia, Abnormality of the fontane...	ORPHA:870
Cdags Syndrome	Delayed cranial suture closure, Sagittal craniosynostosis, Brachycephaly, Parietal foramina, Sens...	OMIM:603116
Feingold Syndrome 1	Patent ductus arteriosus, Asplenia, High palate, Jejunal atresia, Ventricular septal defect, Esop...	OMIM:164280
Distal 22Q11.2 Microduplication Syndrome	Abnormal antihelix morphology, Camptodactyly of finger, Micrognathia, Smooth philtrum, Optic disc...	ORPHA:261337
Schwartz-Jampel Syndrome	Respiratory insufficiency, Wrist flexion contracture, Blepharospasm, Decreased body weight, Micro...	ORPHA:800
Distal 7Q11.23 Microdeletion Syndrome	Patent ductus arteriosus, Atrial septal defect	ORPHA:254351
Trisomy 17P	Patent ductus arteriosus, Flexion contracture, High palate, Low-set ears, Wide mouth, Thick vermi...	ORPHA:261290
White-Kernohan Syndrome	Epicanthus, Synophrys, Midface retrusion, Thick eyebrow, Broad medial eyebrow, Telecanthus, Short...	OMIM:619426
X-Linked Intellectual Disability Due To Gria3 Mutations	Brachycephaly, Short upper lip, Mandibular prognathia, Macrotia, Macrodontia of permanent maxilla...	ORPHA:364028
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Short palpebral fissure, Macrotia, Micrognath...	ORPHA:2083
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia, Lower limb muscle weakness, Abnormality of the seventh cranial nerve, Dyspn...	ORPHA:90117
Congenital Disorder Of Glycosylation, Type Iia	Retrognathia, Brachycephaly, Downslanted palpebral fissures, Macrotia, Sensorineural hearing impa...	OMIM:212066
Coffin-Lowry Syndrome	Delayed closure of the anterior fontanelle, Decreased body weight, Broad columella, Everted lower...	OMIM:303600
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Patent ductus arteriosus, Maternal diabetes, Abnormal tricuspid valve morphology, Pulmonary arter...	ORPHA:1208
Li-Ghorbani-Weisz-Hubshman Syndrome	Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Downturned corners of ...	OMIM:618974
Chromosome 6Pter-P24 Deletion Syndrome	Patent ductus arteriosus, Patent foramen ovale, Cleft upper lip, High palate, Sensorineural heari...	OMIM:612582
Zimmermann-Laband Syndrome 3	Patent ductus arteriosus, Flexion contracture, High palate, Thick lower lip vermilion, Bifid uvul...	OMIM:618658
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Dental malocclusion, Conductive hearing impairment, High palate, Apla...	OMIM:603457
Trisomy 20P	Camptodactyly of finger, Abnormal antihelix morphology, Brachycephaly, Plagiocephaly, Epicanthus,...	ORPHA:261318
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Brachycephaly, Macrotia, Decreased body weight, High palate, Wide nasal bridge, Epicanthus, Widel...	OMIM:300260
Contractural Arachnodactyly, Congenital	Aortic root aneurysm, Patent ductus arteriosus, Wrist flexion contracture, Knee flexion contractu...	OMIM:121050
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect	ORPHA:3405
Regional Odontodysplasia	Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta...	ORPHA:83450
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Horizontal eyebrow, Mandibular prognathia, Flat face, High palate, Epicanthus, Thi...	OMIM:615828
Bainbridge-Ropers Syndrome	Wide nasal bridge, Epicanthus, Micrognathia, Synophrys, Everted lower lip vermilion, Large fontan...	OMIM:615485
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Otosclerosis, Hearing impairment	OMIM:166200
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Respiratory insufficiency, Death in infa...	ORPHA:1120
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Brachycephaly, Thick upper lip vermilion, Mandibular prognathia, Wide mouth, Thick lower lip verm...	OMIM:309545
Intellectual Developmental Disorder, Autosomal Dominant 65	Thick upper lip vermilion, Macrotia, Short foot, Wide nasal bridge, Turricephaly, Long philtrum, ...	OMIM:619320
Wieacker-Wolff Syndrome, Female-Restricted	Brachycephaly, Hip contracture, Long philtrum, Hip dislocation, Microretrognathia, Cleft palate, ...	OMIM:301041
Intellectual Disability, Birk-Barel Type	Incisor macrodontia, Congenital finger flexion contractures, High, narrow palate, Micrognathia, L...	ORPHA:166108
Mesoaxial Hexadactyly And Cardiac Malformation	Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Everted l...	OMIM:249670
Gorlin-Chaudhry-Moss Syndrome	Brachycephaly, Conductive hearing impairment, Abnormal eyelid morphology, Coronal craniosynostosi...	ORPHA:2095
Giant Cell Arteritis	Abdominal aortic aneurysm, Diabetes insipidus, Conductive hearing impairment, Optic atrophy, Glos...	ORPHA:397
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Downslanted palpebral fissures, Sparse eyebrow, Sensorineural hearing impairment, Microtia, Epica...	OMIM:606164
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Flat face, Conductive hearing impairment, Epicanthus, Short nose, Depressed nasal bridge, Low-set...	OMIM:616910
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Subvalvular aortic stenosis, Flexion contracture, Ischemic stroke, Cleft soft palate, Ascending a...	OMIM:619503
Osteoglophonic Dysplasia	Midface retrusion, Limb undergrowth, Short palm, Eruption failure, Respiratory distress, Short no...	OMIM:166250
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Wide mouth, Synophrys, Short philtrum, Short nose, Everted lower lip vermi...	ORPHA:2429
Distal Trisomy 5Q	Downslanted palpebral fissures, Absent thumb, Macrotia, Flat face, Long philtrum, Epicanthus, Pro...	ORPHA:96097
Peho-Like Syndrome	Retrognathia, Optic atrophy, Epicanthus, Hypsarrhythmia, Short nose, Open mouth	OMIM:617507
Craniosynostosis 6	Delayed cranial suture closure, Brachycephaly, Parietal foramina, Sensorineural hearing impairmen...	OMIM:616602
Ramon Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Narrow palate, Delayed eruption ...	ORPHA:3019
Congenital Disorder Of Glycosylation, Type Iig	Conductive hearing impairment, Wide nasal bridge, Micrognathia, Midface retrusion, Cholesteatoma,...	OMIM:611209
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology, Bifid tongue, Micrognathia, Intestinal malr...	ORPHA:2001
Periventricular Nodular Heterotopia 7	Knee flexion contracture, Sensorineural hearing impairment, Pierre-Robin sequence, Micrognathia, ...	OMIM:617201
Robinow Syndrome	Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Midface retrusion, Mesom...	ORPHA:97360
Dislocation Of The Hip-Dysmorphism Syndrome	Patent ductus arteriosus, Hearing abnormality, Abnormal cardiac septum morphology, Prominence of ...	ORPHA:2412
Chromosome 1P36 Deletion Syndrome, Proximal	Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Coronary ...	OMIM:619343
Chromosome 15Q26-Qter Deletion Syndrome	Wide nasal bridge, Small for gestational age, Micrognathia, Blepharophimosis, Triangular face, Fa...	OMIM:612626
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Sensorineural hearing impairment, Microphthalmia, Respiratory insufficien...	OMIM:615249
Isolated Pierre Robin Syndrome	Micrognathia, Upper airway obstruction, Neonatal respiratory distress, Cleft palate, Glossoptosis	ORPHA:718
Odontotrichoungual-Digital-Palmar Syndrome	Dental malocclusion, Mandibular prognathia, Short first metatarsal, Short 1st metacarpal, Natal t...	OMIM:601957
Baller-Gerold Syndrome	Brachycephaly, Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, High palate, Abnor...	ORPHA:1225
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Diabetes insipidus, Conductive hearing impairment, High palate, Long philtrum...	OMIM:618500
Combined Oxidative Phosphorylation Deficiency 2	Patent ductus arteriosus, Low-set ears, Neonatal death, Redundant neck skin	OMIM:610498
Nestor-Guillermo Progeria Syndrome	Pulmonary arterial hypertension, Dental malocclusion, Delayed closure of the anterior fontanelle,...	OMIM:614008
Chime Syndrome	Pulmonary valve atresia, Ventricular septal defect, Abnormality of the dentition, Microdontia, Ab...	ORPHA:3474
Autosomal Recessive Multiple Pterygium Syndrome	Camptodactyly of finger, Conductive hearing impairment, Epicanthus, Micrognathia, Cleft palate, A...	ORPHA:2990
Distal Xq28 Microduplication Syndrome	Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, High palate, Microtia, Short ling...	ORPHA:293939
Kallmann Syndrome-Heart Disease Syndrome	Double outlet right ventricle, Dilated cardiomyopathy, Pulmonary artery hypoplasia, Anomalous ori...	ORPHA:2326
Neurofaciodigitorenal Syndrome	Brachycephaly, Downslanted palpebral fissures, Abnormality of the philtrum, Mandibular prognathia...	ORPHA:2673
Branchioskeletogenital Syndrome	Brachycephaly, Unilateral cleft palate, Synophrys, Bifid uvula, Amelia involving the lower limbs,...	ORPHA:1299
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Brachycephaly, Plagiocephaly, Optic atrophy, Epicanthus, Micrognathia, Synophrys, Midface retrusi...	OMIM:619512
8Q24.3 Microdeletion Syndrome	Atrioventricular canal defect, Truncus arteriosus, Cleft maxillary alveolar ridge, Optic nerve hy...	ORPHA:508488
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Optic disc pallor, Limb hypertonia, Perimembranous ventricular septal defect	OMIM:619170
Lowry-Maclean Syndrome	Retrognathia, Talon cusp, Downslanted palpebral fissures, Convex nasal ridge, Short nasal bridge,...	ORPHA:2409
Carpenter Syndrome 2	Broad neck, Midface retrusion, Supernumerary nipple, Camptodactyly, Short neck, Posteriorly rotat...	OMIM:614976
Frontonasal Dysplasia 3	Underdeveloped nasal alae, Brachycephaly, Wide nasal bridge, Upper eyelid coloboma, Absent eyebro...	OMIM:613456
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Patent ductus arteriosus, Flexion contracture, Ventricular septal defect, Interphalangeal thumb j...	OMIM:613870
Fetal Akinesia Deformation Sequence 2	Respiratory insufficiency, Downslanted palpebral fissures, High palate, Wide nasal bridge, Microg...	OMIM:618388
6Q16 Microdeletion Syndrome	Retrognathia, Microtia, Micrognathia, Almond-shaped palpebral fissure, Thick eyebrow, Depressed n...	ORPHA:171829
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,...	OMIM:204650
Hyperphosphatasia-Intellectual Disability Syndrome	Brachycephaly, Plagiocephaly, Wide nasal bridge, Epicanthus, EEG with polyspike wave complexes, M...	ORPHA:247262
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Epicanthus, Open mouth, Midface retrusion, Short nose, Frontal boss...	OMIM:618430
Xq28 (MECP2) duplication	Brachycephaly, Macrotia, Failure to thrive, Depressed nasal bridge, Narrow mouth, Malar flattening	DECIPHER:45
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Downslanted palpebral fissures, Mandibular prognathia, High palate, Long philtrum, Protruding ear...	OMIM:620001
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Microtia, Micrognathia, Short nose, Frontal bossing, Microphthalmia	ORPHA:2547
10Q22.3Q23.3 Microduplication Syndrome	Abnormality of the philtrum, Microretrognathia, Full cheeks, Low-set ears, Tetralogy of Fallot, C...	ORPHA:276422
Muenke Syndrome	Brachycephaly, Sensorineural hearing impairment, Short foot, Plagiocephaly, Coronal craniosynosto...	ORPHA:53271
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Patent ductus arteriosus, Congenital shortened small intestine, Pyloric stenosis, Increased size ...	OMIM:300048
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Sensorineural hearing impairment,...	ORPHA:1307
Temtamy Syndrome	Short toe, Genu varum, Convex nasal ridge, Thick lower lip vermilion, Micrognathia, Dolichocephal...	ORPHA:1777
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent ductus arteriosus, Patent foramen ovale, Tracheobronchomalacia, Sensorineural hearing impa...	ORPHA:500159
Marshall-Smith Syndrome	Retrognathia, Conductive hearing impairment, Optic atrophy, Gingival overgrowth, Short nose, Fail...	ORPHA:561
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ...	OMIM:616221
Kagami-Ogata Syndrome	Patent ductus arteriosus, Retrognathia, Pulmonary arterial hypertension, Flexion contracture, Dia...	OMIM:608149
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Patent ductus arteriosus, Long philtrum, Wide mouth, Micrognathia, Midface retrusion, Prominent e...	OMIM:618659
Chromosome 3Q13.31 Deletion Syndrome	Brachycephaly, Macrotia, Plagiocephaly, High palate, Epicanthus, Dolichocephaly, Short philtrum, ...	OMIM:615433
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Developmental Delay With Variable Neurologic And Brain Abnormalities	Knee flexion contracture, Wide nose, Upslanted palpebral fissure, Macrotia, Sparse lateral eyebro...	OMIM:619694
Craniodigital-Intellectual Disability Syndrome	Brachycephaly, Micrognathia, Long eyelashes, Short nose, Narrow nasal bridge, Thick eyebrow	ORPHA:1514
Nablus Mask-Like Facial Syndrome	Wide nasal bridge, Everted lower lip vermilion, Short hallux, Smooth philtrum, Sparse eyelashes, ...	OMIM:608156
Craniometaphyseal Dysplasia	Conductive hearing impairment, Sensorineural hearing impairment, Wide nasal bridge, Craniofacial ...	ORPHA:1522
Whistling Face Syndrome, Recessive Form	Knee flexion contracture, Underdeveloped nasal alae, Short palpebral fissure, High palate, Long p...	OMIM:277720
Fetal Alcohol Syndrome	Non-midline cleft lip, Epicanthus, Micrognathia, Microdontia, Biparietal narrowing, Short nose, P...	ORPHA:1915
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, High palate, Hypoxemia, Solitar...	ORPHA:556955
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Plagiocephaly, High palate, Optic atrophy, Deep philtrum, Exaggera...	OMIM:619833
Hypomandibular Faciocranial Dysostosis	Patent ductus arteriosus, Micrognathia, Atrial septal defect, Hypoplasia of the maxilla, Pursed l...	OMIM:241310
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Brachycephaly, Optic atrophy, Micrognathia, Cupped ear, Hearing impairment, Posteriorly rotated e...	OMIM:309590
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Patent ductus arteriosus, Patent foramen ovale, Increased variability in muscle fiber diameter, F...	OMIM:616866
Warburg Micro Syndrome 3	Brachycephaly, Macrotia, Ankle clonus, Narrow palate, Optic atrophy, Blepharophimosis, Micrognath...	OMIM:614222
Distal Tetrasomy 15Q	Patent ductus arteriosus, Retrognathia, Flexion contracture, High palate, Sensorineural hearing i...	ORPHA:314588
Okamoto Syndrome	Underdeveloped nasal alae, Abnormally large globe, Macrotia, Wide nasal bridge, Exaggerated media...	ORPHA:2729
Holoprosencephaly 13, X-Linked	Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Low-set ears, Vent...	OMIM:301043
Trisomy 9P	Brachycephaly, Downslanted palpebral fissures, Non-midline cleft lip, Macrotia, Abnormal nasal mo...	ORPHA:236
Orofaciodigital Syndrome Type 6	Lobulated tongue, Conductive hearing impairment, High palate, Episodic tachypnea, Epicanthus, Mic...	ORPHA:2754
Neuronal Intestinal Pseudoobstruction	Patent ductus arteriosus, Abnormal cardiac septum morphology, Natal tooth, Malabsorption, Congeni...	ORPHA:99811
Peroxisome Biogenesis Disorder 1A (Zellweger)	Epicanthus, Micrognathia, Hearing impairment, Posteriorly rotated ears, Flat face, Macroglossia, ...	OMIM:214100
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Horizontal eyebrow, Long philtrum, Wide nasal bridge, Epicanthus, Deep philtrum, Dolichocephaly, ...	OMIM:618571
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri...	OMIM:610338
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Abnormal pinna morphology, Microretrognathia	OMIM:246560
Oculodentodigital Dysplasia	Conductive hearing impairment, Epicanthus, Selective tooth agenesis, Microdontia, Taurodontia, Hi...	OMIM:164200
Chromosome 19Q13.11 Deletion Syndrome, Distal	Retrognathia, Underdeveloped nasal alae, Short palpebral fissure, Macrotia, Sparse eyebrow, Wide ...	OMIM:613026
Distal Monosomy 15Q	Bifid tongue, Abnormal cardiac septum morphology, Micrognathia, Abnormal aortic arch morphology, ...	ORPHA:1596
Neu-Laxova Syndrome 1	Broad neck, Micrognathia, Camptodactyly, Short neck, Cleft palate, Patent foramen ovale, Ventricu...	OMIM:256520
19P13.12 Microdeletion Syndrome	Brachycephaly, Conductive hearing impairment, Sensorineural hearing impairment, Long philtrum, Ep...	ORPHA:254346
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Wide nasal bridge, Epicanthus, Synophrys, Midface retrusion, Smooth philtrum, Cleft palate, Thick...	OMIM:620098
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Conductive hearing impairment, Short 5th finger, Microtia, Micrognathia, Bifid n...	OMIM:239800
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Conical tooth, Cleft upper lip, Conductive hearing impairment, Ventricu...	OMIM:106260
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect, Pyloric stenosis, Midface retrusion, Abnorma...	OMIM:218350
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Brachycephaly, Wide nasal bridge, Epicanthus, Micrognathia, Synophrys, Recurrent sinusitis, Cleft...	OMIM:213980
Perlman Syndrome	Everted upper lip vermilion, Low-set ears, Volvulus, Interrupted aortic arch, Micrognathia, Pancr...	OMIM:267000
Cenani-Lenz Syndrome	Convex nasal ridge, Hip dislocation, Elbow dislocation, Hearing impairment, Abnormal dental ename...	ORPHA:3258
Acrofrontofacionasal Dysostosis 1	Brachycephaly, S-shaped palpebral fissures, Cleft upper lip, Mandibular prognathia, Wide nasal br...	OMIM:201180
Aortic Valve Disease 2	Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Calcification of the aorta, Aorti...	OMIM:614823
20P12.3 Microdeletion Syndrome	Microtia, Hypoplasia of the maxilla, Full cheeks, Malar flattening, Thickened helices	ORPHA:261295
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Ventricular septal defect, Anal atresia, Atrial septal defect, Anter...	OMIM:309801
Dandy-Walker Malformation With Postaxial Polydactyly	Patent ductus arteriosus, Vascular dilatation, Microretrognathia, Aortic valve stenosis, Low-set ...	OMIM:220220
Intellectual Disability-Strabismus Syndrome	Patent ductus arteriosus, Hypothyroidism, Congenital finger flexion contractures, Macrotia, High ...	ORPHA:363528
Neuropathy, Congenital Hypomyelinating, 3	Respiratory insufficiency, High palate, Epicanthus, Micrognathia, Gingival overgrowth, Cachexia, ...	OMIM:618186
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conductive hearing impairment, Wide nasal bridge, Delayed eruption of teeth, Epicanthus, Pleural ...	OMIM:235510
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Patent ductus arteriosus, Patent foramen ovale, Macrotia, Ventricular septal defect, Wide mouth, ...	ORPHA:329224
X-Linked Intellectual Disability, Nascimento Type	Broad neck, Midface retrusion, Abnormal vena cava morphology, Peripheral pulmonary artery stenosi...	ORPHA:163956
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Increased axial length of the globe, Sparse lateral eyebrow, Everted upper lip vermilion, Widely ...	ORPHA:513456
Linear Skin Defects With Multiple Congenital Anomalies 2	Pulmonary arterial hypertension, Ventricular hypertrophy, Long philtrum, Optic disc pallor, Atria...	OMIM:300887
Mohr Syndrome	Lobulated tongue, Conductive hearing impairment, Bifid tongue, High palate, Tongue nodules, Micro...	OMIM:252100
Patent Ductus Arteriosus 2	Patent ductus arteriosus	OMIM:617035
Marfanoid Habitus With Situs Inversus	Aortic root aneurysm, Mitral valve prolapse, Situs inversus totalis, Persistent left superior ven...	OMIM:609008
Distal Monosomy 3P	Brachycephaly, High palate, Long philtrum, Epicanthus, Blepharophimosis, Micrognathia, Triangular...	ORPHA:1620
Cutis Laxa, Autosomal Recessive, Type Iiia	Brachycephaly, Macrotia, Narrow nasal ridge, Hip dislocation, Frontal bossing, Failure to thrive,...	OMIM:219150
Cutis Laxa, Autosomal Recessive, Type Ic	Hypoplasia of the thymus, Morgagni diaphragmatic hernia, Micrognathia, Midface retrusion, Periphe...	OMIM:613177
Marshall-Smith Syndrome	Irregular dentition, Bilateral conductive hearing impairment, Decreased body weight, Recurrent as...	OMIM:602535
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Conductive hearing impairment, Microtia, Orofacial cleft, Cleft palate, Sh...	OMIM:141400
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Jejunal atresia, Death in infancy, Hypodontia, Mic...	ORPHA:989
Trisomy 1Q	Patent ductus arteriosus, Camptodactyly of finger, Ventricular septal defect, Anal atresia, Micro...	ORPHA:261344
Cardiac Diverticulum	Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu...	ORPHA:1686
Distal 7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Aortic aneurysm, Congenital diaphragmatic hernia, Cryptorchidism, Front...	ORPHA:261102
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr...	OMIM:108900
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Underdeveloped nasal alae, Short palpebral fissure, High palate, Delayed eruption of teeth, Open ...	OMIM:615866
Opitz Gbbb Syndrome	Ectopic anus, Recurrent aspiration pneumonia, Micrognathia, Thyroglossal cyst, Tracheomalacia, Cl...	ORPHA:2745
Hadziselimovic Syndrome	Ventricular hypertrophy, High palate, Ventricular septal defect, Thick lower lip vermilion, Anal ...	OMIM:612946
Aortic Valve Disease 1	Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp...	OMIM:109730
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Downslanted palpebral fissures, Macrotia, Decreased body weight, Sensorineural hearing...	ORPHA:391408
Kleefstra Syndrome Due To A Point Mutation	Brachycephaly, Plagiocephaly, Natal tooth, Thick lower lip vermilion, Uplifted earlobe, Midface r...	ORPHA:261652
Meacham Syndrome	Patent ductus arteriosus, Conotruncal defect, Ventricular septal defect, Atrial septal defect, Co...	ORPHA:3097
Restrictive Dermopathy	Camptodactyly of finger, Ascending tubular aorta aneurysm, Multiple joint contractures, Microcolo...	ORPHA:1662
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Shoulder dislocation, Genu varum, Conductive hearing impairment, Aplasia/Hypoplasia of the thumb,...	OMIM:171480
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel...	OMIM:618386
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat...	OMIM:620135
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Patent ductus arteriosus, Absent gallbladder, Anemia, Respiratory insufficiency, Ventricular sept...	ORPHA:163979
Kapur-Toriello Syndrome	Patent ductus arteriosus, Atresia of the external auditory canal, Ventricular septal defect, Inte...	ORPHA:2328
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Even-Plus Syndrome	Brachycephaly, High palate, Depressed nasal ridge, Microtia, Synophrys, Hypodontia, Midface retru...	OMIM:616854
Beaulieu-Boycott-Innes Syndrome	Short palpebral fissure, Dental malocclusion, Upslanted palpebral fissure, Micrognathia, Velophar...	OMIM:613680
Monosomy 9P	Abnormal antihelix morphology, Brachycephaly, Epicanthus, Micrognathia, Synophrys, Calvarial skul...	ORPHA:261112
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Sensorineural hearing impairment, Abnormal salivary gland morphology	ORPHA:3225
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Bardet-Biedl Syndrome 19	Patent ductus arteriosus, Ventricular septal defect, Hypogonadism, Atrial septal defect, Hypoplas...	OMIM:615996
Fibrochondrogenesis 1	Cleft palate, Widely patent coronal suture, Short palm, Flat face, Short ribs, Short nose, Fronta...	OMIM:228520
Feingold Syndrome Type 1	Patent ductus arteriosus, Conductive hearing impairment, Sensorineural hearing impairment, Jejuna...	ORPHA:391641
Harrod Syndrome	Dental malocclusion, High palate, Failure to thrive, Narrow mouth, Long nose, Protruding ear	ORPHA:2115
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent ductus arteriosus, Patent foramen ovale, Increased variability in muscle fiber diameter, F...	OMIM:616867
Gapo Syndrome	Delayed cranial suture closure, Sparse eyebrow, Delayed closure of the anterior fontanelle, Erupt...	OMIM:230740
Kapur-Toriello Syndrome	Patent ductus arteriosus, Camptodactyly of finger, Cleft upper lip, Conductive hearing impairment...	OMIM:244300
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Plagiocephaly, Wide nasal bridge, EEG abnormality, Micrognathia, Elbow flexion contracture, Cache...	ORPHA:371364
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Protruding ear	OMIM:618302
Autosomal Recessive Faciodigitogenital Syndrome	Brachycephaly, High palate, Long philtrum, Wide mouth, Deep philtrum, Micrognathia, Long palpebra...	ORPHA:1974
Fontaine Progeroid Syndrome	Respiratory insufficiency, Brachycephaly, Conductive hearing impairment, Pneumothorax, Convex nas...	OMIM:612289
Kleefstra Syndrome	Brachycephaly, Delayed eruption of teeth, Synophrys, Tracheomalacia, Everted lower lip vermilion,...	ORPHA:261494
Cerebellar-Facial-Dental Syndrome	Dental malocclusion, S-shaped palpebral fissures, Sparse eyebrow, Macrodontia of permanent maxill...	ORPHA:444072
Adams-Oliver Syndrome 4	Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Umbilical hernia	OMIM:615297
Pierre Robin Sequence With Facial And Digital Anomalies	Cleft palate, Micrognathia, Pierre-Robin sequence, Glossoptosis	OMIM:311895
Sclerosteosis 1	Dental malocclusion, Mandibular prognathia, Tooth malposition, Facial palsy secondary to cranial ...	OMIM:269500
Developmental And Epileptic Encephalopathy 73	Sensorineural hearing impairment, Midface retrusion, Short nose, Failure to thrive, Narrow nasal ...	OMIM:618379
Pseudo-Torch Syndrome 1	Patent ductus arteriosus, Patent foramen ovale, High palate, Long philtrum, Microretrognathia, Cl...	OMIM:251290
Microcephaly-Capillary Malformation Syndrome	Wide nose, Optic atrophy, Small for gestational age, Short nose, Hypoplasia of the maxilla, Failu...	OMIM:614261
Laurence-Moon Syndrome	Brachycephaly, Sensorineural hearing impairment, Epicanthus, Abnormal antitragus morphology, Low-...	ORPHA:2377
Sifrim-Hitz-Weiss Syndrome	Patent ductus arteriosus, Ventricular septal defect, Bifid uvula, Atrial septal defect, Coarctati...	OMIM:617159
Mucopolysaccharidosis Type 2	Conductive hearing impairment, Optic atrophy, Abnormal nasal mucus secretion, Papilledema, Gingiv...	ORPHA:580
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, Bicuspid aortic valve, Cor...	OMIM:617168
Fraser Syndrome 1	Conductive hearing impairment, Cryptophthalmos, Midline nasal groove, Wide nasal bridge, Malforme...	OMIM:219000
Baker-Gordon Syndrome	EEG abnormality, Epicanthus, Prominent nasal tip, Choreoathetosis, Short nose, Thin upper lip ver...	OMIM:618218
Cerebrooculofacioskeletal Syndrome 4	Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, Decreased body weig...	OMIM:610758
Symphalangism With Multiple Anomalies Of Hands And Feet	Conductive hearing impairment, Finger symphalangism, Symphalangism of the 4th finger, Symphalangi...	ORPHA:3246
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Sensorineural hearing impairment, High palate, EEG abnormality, Absent brainstem auditory respons...	OMIM:617519
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Camptodactyly of finger, Downslanted palpebral fissures, Flat face, Microtia, Epicanthus, Microre...	ORPHA:2994
Patent Ductus Arteriosus 3	Patent ductus arteriosus	OMIM:617039
Patent Ductus Arteriosus 1	Patent ductus arteriosus	OMIM:607411
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism, Ascending tubular aorta aneurysm, High palate, Ventricular septal defect, Deep ph...	OMIM:309520
Six2-Related Frontonasal Dysplasia	Wide anterior fontanel, Small for gestational age, Absent/hypoplastic paranasal sinuses, Prematur...	ORPHA:488437
Chopra-Amiel-Gordon Syndrome	Brachycephaly, Pierre-Robin sequence, EEG abnormality, Midface retrusion, Short philtrum, Almond-...	OMIM:619504
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hip subluxation, Conductive hearing impairment, Plagiocephaly, Micrognathia, Synophrys, Hypoplasi...	ORPHA:444077
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Ventricular septal defect, Hypogonadism, Esophageal atresia, Death in i...	OMIM:300514
Cat Eye Syndrome	Micrognathia, Cleft palate, Hearing impairment, Rectal fistula, Ventricular septal defect, Atrial...	OMIM:115470
Hennekam Syndrome	Respiratory insufficiency, Camptodactyly of finger, Retrognathia, Conductive hearing impairment, ...	ORPHA:2136
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Patent ductus arteriosus, Cardiomegaly, Ischemic...	ORPHA:91387
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Wide nasal bridge, Micrognathia, Short philtrum, Frontal bossing, Platybasia, Cloverl...	ORPHA:93267
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures	Hypoplasia of the maxilla, Midface retrusion, Protruding ear	OMIM:618737
Monosomy 18Q	Hypothyroidism, Bilateral conductive hearing impairment, Secundum atrial septal defect, Left aort...	ORPHA:1600
Gm1 Gangliosidosis	Patent ductus arteriosus, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall muscu...	ORPHA:354
Campomelic Dysplasia	Irregular dentition, Conductive hearing impairment, Epicanthus, Micrognathia, Hip dislocation, Tr...	OMIM:114290
Baller-Gerold Syndrome	Brachycephaly, Absent thumb, Conductive hearing impairment, Aplasia of metacarpal bones, Epicanth...	OMIM:218600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the frontal bone, Conductive he...	ORPHA:306542
Kohlschutter-Tonz Syndrome-Like	Brachycephaly, Decreased body weight, EEG abnormality, Delayed eruption of teeth, Midface retrusi...	OMIM:619229
Mucopolysaccharidosis Type 2, Severe Form	Camptodactyly of finger, Conductive hearing impairment, Flexion contracture, Optic atrophy, Hepat...	ORPHA:217085
Osteogenesis Imperfecta, Type Iii	Pulmonary arterial hypertension, Protrusio acetabuli, Dentinogenesis imperfecta, Wide anterior fo...	OMIM:259420
Martin-Probst Syndrome	Dental malocclusion, Sensorineural hearing impairment, Wide nasal bridge, Epicanthus, Thick lower...	OMIM:300519
19P13.13 Microdeletion Syndrome	Brachycephaly, Downslanted palpebral fissures, Macrotia, High palate, Optic atrophy, Epicanthus, ...	ORPHA:357001
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Atresia of the external auditory canal, Median cleft lip, Abnormality of the ...	ORPHA:3186
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Tracheobronchomalacia, Sensorineural hearing impairment, Ventricular se...	OMIM:617751
Microphthalmia, Syndromic 2	Hypothyroidism, Flexion contracture, Delayed eruption of teeth, Adrenal insufficiency, Bifid uvul...	OMIM:300166
Gorlin Syndrome	Brachycephaly, Vertebral fusion, Mandibular prognathia, Wide nasal bridge, Epicanthus, Frontal bo...	ORPHA:377
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Broad neck, Bifid uvula, Optic nerve hypoplasia, Short neck, Peripheral pulmonary artery stenosis...	OMIM:617506
Congenital Disorder Of Glycosylation, Type Il	Brachycephaly, Long philtrum, Wide mouth, Hip dislocation, Short nose, Frontal bossing, Failure t...	OMIM:608776
Mucopolysaccharidosis Type 2, Attenuated Form	Camptodactyly of finger, Conductive hearing impairment, Flexion contracture, Optic atrophy, Hepat...	ORPHA:217093
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Wide nasal bridge, Optic atrophy, Facial palsy, Broad alveolar ridges, Fac...	OMIM:218400
Ciliary Dyskinesia, Primary, 38	Rhinitis, Decreased nasal nitric oxide, Conductive hearing impairment, Bronchiectasis, Productive...	OMIM:618063
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Respiratory insufficiency, Flexion contracture, Encephalocele, Optic atrophy, Calf muscle hypertr...	OMIM:253800
Noonan Syndrome 8	Patent ductus arteriosus, Webbed neck, Ventricular septal defect, Left ventricular hypertrophy, A...	OMIM:615355
De Barsy Syndrome	Brachycephaly, Downslanted palpebral fissures, Delayed closure of the anterior fontanelle, Small,...	ORPHA:2962
Mass Syndrome	Mitral valve prolapse, Aortic aneurysm, Ascending aortic dissection	OMIM:604308
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Brachycephaly, Ankle clonus, High palate, Long philtrum, Deep philtrum, Multifocal epileptiform d...	OMIM:615398
16P12.1P12.3 Triplication Syndrome	Retrognathia, Short palpebral fissure, Short 5th finger, Long philtrum, Wide mouth, Epicanthus, L...	ORPHA:485405
Chromosome 6Q24-Q25 Deletion Syndrome	Patent ductus arteriosus, High palate, Long philtrum, Right ventricular dilatation, Mitral valve ...	OMIM:612863
Richieri-Costa/Guion-Almeida Syndrome	Brachycephaly, Downslanted palpebral fissures, Cleft upper lip, Mandibular prognathia, Ptosis, Ey...	OMIM:268850
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,...	ORPHA:261183
Heterotaxy, Visceral, 5, Autosomal	Patent ductus arteriosus, Double outlet right ventricle, Atrioventricular canal defect, Ascending...	OMIM:270100
Mend Syndrome	High palate, Wide anterior fontanel, Abnormal nasal bridge morphology, Micrognathia, Abnormal aud...	ORPHA:401973
Pfeiffer Syndrome	Downslanted palpebral fissures, Choanal stenosis, Mandibular prognathia, Short middle phalanx of ...	OMIM:101600
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Mitral valve pro...	ORPHA:371428
Postaxial Acrofacial Dysostosis	Conical tooth, Downslanted palpebral fissures, Cleft upper lip, Conductive hearing impairment, Hy...	OMIM:263750
Premature Aging Syndrome, Penttinen Type	Delayed cranial suture closure, Convex nasal ridge, Aplasia of the nasal bone, Delayed eruption o...	OMIM:601812
Zellweger Syndrome	Respiratory insufficiency, Flat face, Sensorineural hearing impairment, Wide anterior fontanel, W...	ORPHA:912
Trisomy 8P	Abnormal atrioventricular connection, Conductive hearing impairment, Multiple joint contractures,...	ORPHA:264450
Hallermann-Streiff Syndrome	Respiratory insufficiency, Brachycephaly, Convex nasal ridge, Micrognathia, Abnormality of the fo...	ORPHA:2108
Craniofacial Microsomia	Conductive hearing impairment, Micrognathia, Hypoplasia of facial musculature, Cleft palate, Atre...	OMIM:164210
Acrocallosal Syndrome	Everted upper lip vermilion, Wide nasal bridge, Epicanthus, Optic atrophy, Bifid uvula, Prominent...	OMIM:200990
Myopathy, Centronuclear, X-Linked	Dental malocclusion, High palate, Dolichocephaly, Neonatal respiratory distress, Respiratory fail...	OMIM:310400
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Supernumerary nipple, Posterior helix pit, Cleft palate, Gingiv...	OMIM:312870
Robinow Syndrome, Autosomal Recessive 1	Delayed cranial suture closure, Bifid tongue, Wide nasal bridge, Micrognathia, Midface retrusion,...	OMIM:268310
Tetrasomy 12P	Thick upper lip vermilion, Sparse eyebrow, Long philtrum, Delayed eruption of teeth, Cachexia, Fr...	ORPHA:884
Aymé-Gripp Syndrome	Delayed cranial suture closure, Brachycephaly, Plagiocephaly, EEG abnormality, Large fontanelles,...	ORPHA:1272
Zaki Syndrome	Patent ductus arteriosus, Patent foramen ovale, High palate, Wide mouth, Micrognathia, Short phil...	OMIM:619648
9Q33.3Q34.11 Microdeletion Syndrome	Wide nose, Brachycephaly, Telecanthus, Patellar hypoplasia, Patellar dislocation, Patellar aplasi...	ORPHA:495818
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Death in childhood, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Ring Chromosome 10 Syndrome	Abnormal antihelix morphology, Downslanted palpebral fissures, Long philtrum, Wide nasal bridge, ...	ORPHA:1438
Congenital Rubella Syndrome	Patent ductus arteriosus, Anemia, Sensorineural hearing impairment, Ventricular septal defect, Ab...	ORPHA:290
Branchiootic Syndrome 1	Retrognathia, Sensorineural hearing impairment, Dilatated internal auditory canal, Microtia, Prea...	OMIM:602588
Chromosome 10Q26 Deletion Syndrome	Patent ductus arteriosus, High palate, Long philtrum, Sensorineural hearing impairment, Webbed ne...	OMIM:609625
Intellectual Developmental Disorder, Autosomal Dominant 64	Plagiocephaly, High palate, Epicanthus, Micrognathia, Synophrys, Short philtrum, Prominent metopi...	OMIM:619188
Oculodentodigital Dysplasia	Camptodactyly of finger, Non-midline cleft lip, Conductive hearing impairment, Optic atrophy, Epi...	ORPHA:2710
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Sagittal craniosynostosis, Downslanted palpebral fissures, Scaphocephaly, Sparse eyebrow, Natal t...	OMIM:616901
Amelogenesis Imperfecta, Type Ie	Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp...	OMIM:301200
Robinow Syndrome, Autosomal Dominant 1	Bifid tongue, Wide nasal bridge, Delayed eruption of teeth, Epicanthus, Micrognathia, Short lingu...	OMIM:180700
Igg4-Related Ophthalmic Disease	Abnormality of the orbital region, Abnormal morphology of bony orbit of skull, Abnormal eyelid mo...	ORPHA:449563
Developmental Delay With Or Without Dysmorphic Facies And Autism	Micrognathia, Supernumerary nipple, Smooth philtrum, Cleft palate, Optic disc coloboma, Hearing i...	OMIM:618454
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Dextr...	OMIM:314390
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Patent ductus arteriosus, Cleft upper lip, Macrotia, Hypoplastic helices, Ventricular septal defe...	OMIM:600460
Alg9-Cdg	Delayed cranial suture closure, Brachycephaly, Convex nasal ridge, Micrognathia, Bifid uvula, Lar...	ORPHA:79328
Simosa Craniofacial Syndrome	Underdeveloped nasal alae, Hearing abnormality, Sparse eyebrow, Flat face, Long philtrum, Wide na...	OMIM:182150
C Syndrome	High palate, Wide nasal bridge, Short metacarpal, Epicanthus, Micrognathia, Wide mouth, Hip dislo...	OMIM:211750
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy	OMIM:601382
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Hypoplasia of right ventricle, Pulmonary artery stenosis, Double out...	ORPHA:2255
Frontofacionasal Dysplasia	Brachycephaly, Non-midline cleft lip, Aplasia/Hypoplasia of the eyebrow, Depressed nasal ridge, B...	ORPHA:1791
Cerebrofacioarticular Syndrome	Irregular dentition, Conductive hearing impairment, Bilateral choanal atresia/stenosis, Wide nasa...	ORPHA:314679
Ritscher-Schinzel Syndrome 4	Brachycephaly, Downslanted palpebral fissures, Macrotia, Plagiocephaly, Narrow palate, Wide nasal...	OMIM:619435
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Patent ductus arteriosus, Retrognathia, Patent foramen ovale, High palate, Ventricular septal def...	OMIM:620113
Odontochondrodysplasia	Patent ductus arteriosus, Dentinogenesis imperfecta, Retrognathia, Death in infancy, Delayed erup...	ORPHA:166272
Ssr4-Cdg	Patent ductus arteriosus, Macrotia, Abnormality of upper lip vermillion, Wide mouth, Widely space...	ORPHA:370927
Larsen Syndrome	Respiratory insufficiency, Flat face, Accessory carpal bones, Conductive hearing impairment, Larg...	ORPHA:503
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Macrotia, Aplasia/Hypoplasia of the eyebrow, Wide nasal bridge, Micrognathia, Short philtrum, Res...	ORPHA:261304
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Cleft upper lip, Depressed nasal ridge, Brachyturricephaly, Frontal bossing, Optic nerve hypoplas...	OMIM:607597
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Brachycephaly, Macrotia, Mandibular prognathia, Wide nasal bridge, Short philtrum, Buphthalmos, T...	ORPHA:521445
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Enamel hypoplasia, Dental malocclusion, Wide nasal bridge, Unilateral narrow palpe...	OMIM:618727
Cornelia De Lange Syndrome 1	Brachycephaly, Conductive hearing impairment, Optic atrophy, Delayed eruption of teeth, Micrognat...	OMIM:122470
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta	ORPHA:1923
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Brachycephaly, Horizontal eyebrow, Wide mouth, Depressed nasal bridge, Protruding tongue, Flat oc...	OMIM:618797
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Mohr-Tranebjaerg Syndrome	Postlingual sensorineural hearing impairment, Ankle clonus, Sensorineural hearing impairment, Pre...	ORPHA:52368
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Skull asymmetry, Short femoral neck, Short metacarpal, Microtia, Epicanthus, Carpal bone hypoplas...	OMIM:616723
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Brachycephaly, Wide nasal bridge, Micrognathia, Hearing impairment, Central sleep apnea, Prematur...	ORPHA:369837
Oliver Syndrome	Camptodactyly of finger, Dental malocclusion, Knee flexion contracture, Mandibular prognathia, Sm...	ORPHA:2920
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Epicanthus, Micrognathia, Microdontia, Prominent antihelix, Sparse eye...	OMIM:268400
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Double outlet right ventricle, Wide anterior fontanel, Prominence of th...	OMIM:614886
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of Fallot	ORPHA:2184
Osteolysis Syndrome, Recessive	Hypoplasia of the maxilla	OMIM:259610
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Slender build, Brachycephaly, Interictal epileptiform activity, Limb tremor	OMIM:300699
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Conductive hearing impairment, Pneumonia	ORPHA:85179
Cleft Velum	Hypoplasia of the maxilla, Conductive hearing impairment, Recurrent otitis media	ORPHA:99772
Al Amyloidosis	Anemia, Howell-Jolly bodies, Abnormal cardiac atrium morphology, Abnormal autonomic nervous syste...	ORPHA:85443
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Brachycephaly, Wide anterior fontanel, Natal tooth, Microtia, Absent nasal bridge, M...	OMIM:617925
Dentinogenesis Imperfecta	Yellow-brown discoloration of the teeth, Abnormal dental root morphology, Selective tooth agenesi...	ORPHA:49042
Chromosome 16P13.3 Duplication Syndrome	Wide nasal bridge, Epicanthus, Micrognathia, Synophrys, Bifid uvula, Hip dislocation, Midface ret...	OMIM:613458
Trigonocephaly 1	Long philtrum, Wide nasal bridge, Epicanthus, High, narrow palate, Synophrys, Short nose, Trigono...	OMIM:190440
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Wide nasal bridge, Optic atrophy, Synophrys, Midface retrusion, Smooth philtrum, Eversion of late...	ORPHA:487796
Distal Monosomy 12Q	Brachycephaly, Bilateral conductive hearing impairment, Micrognathia, Elbow flexion contracture, ...	ORPHA:96149
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Delayed eruption of teeth, Spina bifida occulta, Gingival overgrowth, Splen...	OMIM:135500
Donnai-Barrow Syndrome	Short sternum, Downslanted palpebral fissures, Sensorineural hearing impairment, Wide anterior fo...	OMIM:222448
Cockayne Syndrome B	Dental malocclusion, Mandibular prognathia, Sensorineural hearing impairment, Delayed eruption of...	OMIM:133540
Pfeiffer Syndrome Type 1	Brachycephaly, Aplasia/Hypoplasia of the thumb, High palate, Short foot, Midface retrusion, Short...	ORPHA:93258
Inflammatory Skin And Bowel Disease, Neonatal, 2	Coarctation of aorta	OMIM:616069
Noonan Syndrome 10	Patent ductus arteriosus, High palate, Webbed neck, Ventricular septal defect, Mitral stenosis, M...	OMIM:616564
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Long philtrum, Microtia, Micrognathia, Radioulnar synostosis, Sh...	ORPHA:1988
Robinow Syndrome, Autosomal Recessive 2	Cleft soft palate, Wide nasal bridge, Long philtrum, Micrognathia, Midface retrusion, Long eyelas...	OMIM:618529
Craniosynostosis 2	Brachycephaly, Turricephaly, Cleft soft palate, Supernumerary tooth, Frontal bossing, Unicoronal ...	OMIM:604757
Ablepharon Macrostomia Syndrome	Camptodactyly of finger, Wide mouth, Microtia, Microdontia, Hypoplasia of the maxilla, Hearing im...	ORPHA:920
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Patent ductus arteriosus, Ventricular septal defect, Increased size of nasopharyngeal adenoids, A...	OMIM:619769
Multiple Synostoses Syndrome	Short palm, Conductive hearing impairment	ORPHA:3237
Teebi Hypertelorism Syndrome 1	Sagittal craniosynostosis, Downslanted palpebral fissures, Small hand, Wide nasal bridge, Natal t...	OMIM:145420
Rhizomelic Dysplasia, Patterson-Lowry Type	Wide nose, Genu valgum, Mandibular prognathia, Flat face, Depressed nasal ridge, Rhizomelia, Shor...	ORPHA:2831
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect	OMIM:601322
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Elbow dislocation, Short hall...	ORPHA:90652
Mesomelia-Synostoses Syndrome	Convex nasal ridge, Micrognathia, Abnormality of the wrist, Metatarsal synostosis, Abnormal oral ...	ORPHA:2496
Kniest Dysplasia	Genu varum, Conductive hearing impairment, Hip contracture, Rhizomelia, Hip dislocation, Respirat...	OMIM:156550
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Pulmonary arterial hypertension, Micrognathia, Atrial septal defect, Co...	OMIM:614857
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Bifid uvula, Conductive hearing impairment	ORPHA:2669
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Depressed nasal ridge, Short foot, Rhizomelia, Wide mouth, Micrognathia, Short philtrum, Short no...	ORPHA:163966
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Patent ductus arteriosus, Lobulated tongue, Respiratory insufficiency, Macrotia, Bifid tongue, En...	OMIM:616300
Combined Oxidative Phosphorylation Deficiency 25	Long philtrum, Wide nasal bridge, Short nose, Depressed nasal bridge, Anteverted nares, Low-set ears	OMIM:616430
15Q Overgrowth Syndrome	Wide nasal bridge, Micrognathia, Bifid uvula, Contracture of the proximal interphalangeal joint o...	ORPHA:314585
Stickler Syndrome, Type I	Conductive hearing impairment, Sensorineural hearing impairment, Pierre-Robin sequence, Arthropat...	OMIM:108300
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Brachycephaly, Downslanted palpebral fissures, Flat face, Long philtrum, Microtia, Shallow orbits...	OMIM:601353
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Brachycephaly, Cleft soft palate, Wide nasal bridge, Epicanthus, Microdontia, Broad columella, Sm...	OMIM:619950
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Brachycephaly, Short palpebral fissure, Prominent nose, Small hand, Wide nasal bridge, Long philt...	OMIM:300968
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Patent ductus arteriosus, High palate, Long philtrum, Deep philtrum, Sensorineural hearing impair...	ORPHA:397709
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Patent foramen ovale, Long philtrum, Low-set ears, Ventricular septal defect, Recurrent otitis me...	OMIM:618494
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Patent ductus arteriosus, Retrognathia, Anemia, Vascular dilatation, Sensorineural hearing impair...	ORPHA:2637
Paternal Uniparental Disomy Of Chromosome 5	Rhizomelic arm shortening, Short lower limbs, Abnormally large globe, Posterior plagiocephaly	ORPHA:96190
Osteogenesis Imperfecta, Type Xvi	Conductive hearing impairment, Rhizomelia, Small for gestational age, Microretrognathia, Tooth ag...	OMIM:616229
Intellectual Developmental Disorder, X-Linked 30	Thick upper lip vermilion, Flat face, Macrotia, High palate, Short nose, Thin upper lip vermilion...	OMIM:300558
Diamond-Blackfan Anemia 7	Patent ductus arteriosus, Neutropenia, Ventricular septal defect, Secundum atrial septal defect, ...	OMIM:612562
Kimura Disease	Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia	ORPHA:482
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, High palate, Long philtrum, Sensorineural hearing impairment, Abnormal ...	ORPHA:250989
Thanatophoric Dysplasia	Patent ductus arteriosus, Respiratory insufficiency, Midface retrusion, Atrial septal defect, Low...	ORPHA:2655
Progeria-Short Stature-Pigmented Nevi Syndrome	Dental malocclusion, Selective tooth agenesis, Small for gestational age, Central sleep apnea, Mi...	ORPHA:2959
Subaortic Stenosis-Short Stature Syndrome	Respiratory insufficiency, Epicanthus, Micrognathia, Synostosis of carpal bones, Microdontia, Mic...	ORPHA:3191
Fryns Syndrome	Non-midline cleft lip, Ectopic anus, Abnormal cardiac septum morphology, Micrognathia, Abnormal a...	ORPHA:2059
Tatton-Brown-Rahman Syndrome	Aortic root aneurysm, Patent ductus arteriosus, Mandibular prognathia, Myeloid leukemia, Deep phi...	ORPHA:404443
Congenital Disorder Of Glycosylation, Type Iu	High palate, Optic atrophy, Micrognathia, Respiratory distress, Short nose, Thin upper lip vermil...	OMIM:615042
Proximal 16P11.2 Microdeletion Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Micrognathia, Choreoathetosis, M...	ORPHA:261197
Wiedemann-Steiner Syndrome	Short 5th finger, Wide nasal bridge, Epicanthus, Micrognathia, Synophrys, Depressed nasal tip, Ev...	OMIM:605130
Ritscher-Schinzel Syndrome 2	Patent ductus arteriosus, Broad neck, Ventricular septal defect, Short philtrum, Camptodactyly, A...	OMIM:300963
Crisponi/Cold-Induced Sweating Syndrome 1	Retrognathia, Wide nose, High palate, Long philtrum, Micrognathia, Elbow flexion contracture, Dep...	OMIM:272430
Transaldolase Deficiency	Biventricular hypertrophy, Atrial septal defect, Coarctation of aorta	ORPHA:101028
Intermediate Osteopetrosis	Dental malocclusion, Cranial nerve compression, Optic atrophy from cranial nerve compression, Abn...	ORPHA:210110
Marshall Syndrome	Thick upper lip vermilion, Sensorineural hearing impairment, Macrodontia of permanent maxillary c...	OMIM:154780
Phaver Syndrome	Myelomeningocele, Ventricular septal defect, Coarctation of aorta, Hypoplastic aortic arch, Pulmo...	ORPHA:2876
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome	Small earlobe, Downslanted palpebral fissures, Low-set ears, EEG abnormality, Craniosynostosis, M...	ORPHA:412069
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Multifocal epileptiform discharges, Narrow palpebral fissure, Short nose, ...	OMIM:618087
Chondrodysplasia, Blomstrand Type	Preductal coarctation of the aorta	OMIM:215045
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enamel hypoplasia, Enterocolitis, Jejunal atresia, Hypoplasia of the thymus, Death in infancy, De...	OMIM:243150
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Recurrent aspiration pneumonia, Large fleshy ears, Short neck, Peripheral pulmonary artery stenos...	ORPHA:280633
Timothy Syndrome	Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Microd...	OMIM:601005
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Brachycephaly, Cleft upper lip, Decreased body weight, Wide nasal bridge, Bifid uvula, Anteverted...	OMIM:300958
Testicular Anomalies With Or Without Congenital Heart Disease	Tetralogy of Fallot	OMIM:615542
Blepharoptosis, Myopia, And Ectopia Lentis	Increased axial length of the globe, Congenital ptosis	OMIM:110150
Shashi-Pena Syndrome	Patent ductus arteriosus, Retrognathia, Limb hypertonia, Dilation of Virchow-Robin spaces, Atrial...	OMIM:617190
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly, Downslanted palpebral fissures, Bilateral ptosis, Deep philtrum, Downturned corner...	OMIM:618859
Diaphanospondylodysostosis	Respiratory insufficiency, Depressed nasal ridge, Epicanthus, Micrognathia, Missing ribs, Respira...	OMIM:608022
3Mc Syndrome 1	Conductive hearing impairment, Short 5th finger, Skull asymmetry, Synophrys, Cleft palate, Lambdo...	OMIM:257920
Fg Syndrome Type 1	Broad neck, Abnormal large intestine morphology, Micrognathia, Optic nerve hypoplasia, Small pitu...	ORPHA:93932
Mitochondrial Myopathy And Sideroblastic Anemia	High palate, Long philtrum, Micrognathia, Short nose, Distichiasis	ORPHA:2598
17Q23.1Q23.2 Microdeletion Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Widely spaced teeth, Atrial septal def...	ORPHA:261279
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Respiratory insufficiency, 11 pairs of ribs, Congenital laryngeal stridor, Wide nasal bridge, Glo...	OMIM:618356
Poikiloderma With Neutropenia	Retrognathia, Underdeveloped nasal alae, Conjunctivitis, Sparse eyebrow, Sparse lateral eyebrow, ...	OMIM:604173
Silver-Russell Syndrome 3	Patent ductus arteriosus, Retrognathia, Elbow contracture, Unilateral cryptorchidism, Low-set ears	OMIM:616489
Congenital Disorder Of Glycosylation, Type Iil	Patent ductus arteriosus, Enamel hypoplasia, Retrognathia, Ventricular septal defect, Optic atrop...	OMIM:614576
Adenylosuccinase Deficiency	Brachycephaly, Long philtrum, Wide mouth, Short nose, Thin upper lip vermilion, Anteverted nares,...	OMIM:103050
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements	Conductive hearing impairment, Choreoathetosis, Dystonia, Anteverted nares	OMIM:618497
Kbg Syndrome	Brachycephaly, Synophrys, Thick eyebrow, Short palm, Telecanthus, Posteriorly rotated ears, Verte...	OMIM:148050
Alagille Syndrome	Brachycephaly, Downslanted palpebral fissures, Flat face, Micrognathia, Short philtrum, Hypoplasi...	ORPHA:52
Distal Monosomy 10P	Hearing abnormality, Downslanted palpebral fissures, Macrotia, Convex nasal ridge, Abnormality of...	ORPHA:1580
Lacrimoauriculodentodigital Syndrome	Conductive hearing impairment, Microdontia, Micrognathia, Bifid uvula, Cupped ear, Orofacial clef...	ORPHA:2363
Myhre Syndrome	Respiratory insufficiency, Pericardial effusion, Midface retrusion, Camptodactyly, Short neck, Sk...	OMIM:139210
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Atresia of the external auditory canal, Conductive hearing impairment, Ptosis, Chronic otitis med...	OMIM:221320
Desmosterolosis	Downslanted palpebral fissures, Rhizomelia, Joint contracture of the hand, Epicanthus, Micrognath...	OMIM:602398
Brachytelephalangic Chondrodysplasia Punctata	Patent ductus arteriosus, Ventricular septal defect, Asthma, Atrial septal defect, Optic nerve hy...	ORPHA:79345
Chromosome 14Q11-Q22 Deletion Syndrome	Hip subluxation, Short palpebral fissure, Plagiocephaly, High palate, Wide nasal bridge, Epicanth...	OMIM:613457
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Genu valgum, Conductive hearing impairment, Flat face, Narrow mouth	OMIM:132450
Temtamy Syndrome	Downslanted palpebral fissures, Convex nasal ridge, Long philtrum, Micrognathia, Lop ear, Hip dis...	OMIM:218340
Marfan Syndrome	Retrognathia, Protrusio acetabuli, Downslanted palpebral fissures, Increased axial length of the ...	ORPHA:558
Kury-Isidor Syndrome	Brachycephaly, Downslanted palpebral fissures, High palate, Long philtrum, Widely spaced teeth, R...	OMIM:619762
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Short sternum, Brachycephaly, Long philtrum, Epicanthus, Small for gestational age, Mi...	OMIM:257300
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Bilateral conductive hearing impairment, Oligodontia of primary teeth, Abnormality of the ankle, ...	ORPHA:2010
Cerebrocostomandibular Syndrome	Conductive hearing impairment, Cleft soft palate, Micrognathia, Elbow flexion contracture, Cleft ...	OMIM:117650
Feingold Syndrome	Patent ductus arteriosus, Sensorineural hearing impairment, Esophageal atresia, Micrognathia, Ext...	ORPHA:1305
Ciliary Dyskinesia, Primary, 33	Conductive hearing impairment, Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chro...	OMIM:616726
Aica-Ribosuria Due To Atic Deficiency	Brachycephaly, Optic atrophy, Wide mouth, Frontal bossing, Thin upper lip vermilion, Anteverted n...	OMIM:608688
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Respiratory insufficiency, Ventricular septal defect, Hypoplastic left ...	OMIM:616276
Peho Syndrome	Macrotia, Optic atrophy, Epicanthus, EEG abnormality, Hypsarrhythmia, Biparietal narrowing, Midfa...	ORPHA:2836
Femoral-Facial Syndrome	Truncus arteriosus, Long philtrum, Ventricular septal defect, Micrognathia, Pulmonic stenosis, Ma...	OMIM:134780
Chops Syndrome	Patent ductus arteriosus, Patent foramen ovale, Splenomegaly, Aspiration pneumonia, Long philtrum...	OMIM:616368
Viss Syndrome	Aortic tortuosity, Hypothyroidism, Ascending tubular aorta aneurysm, Bifid tongue, Cleft soft pal...	OMIM:619472
Alopecia Antibody Deficiency	Aplasia/Hypoplasia of the eyebrow, Conductive hearing impairment, Abnormality of dental color, Ab...	ORPHA:1006
Mulchandani-Bhoj-Conlin Syndrome	Retrognathia, Epicanthus, Dolichocephaly, Triangular face, Failure to thrive, Posteriorly rotated...	OMIM:617352
Hypoglossia With Situs Inversus	Asplenia, High palate, Hypodontia, Micrognathia, Polysplenia, Respiratory distress, Narrow mouth,...	OMIM:612776
Harel-Yoon Syndrome	Mandibular prognathia, Optic atrophy, Micrognathia, Frontal bossing, Short nose, Upslanted palpeb...	OMIM:617183
Waardenburg Syndrome Type 1	Underdeveloped nasal alae, Cleft upper lip, Mandibular prognathia, Wide nasal bridge, Synophrys, ...	ORPHA:894
Orofaciodigital Syndrome Xvii	Retrognathia, Median cleft lip, Short neck, Low-set ears, Tetralogy of Fallot, High, narrow palat...	OMIM:617926
Desmosterolosis	Patent ductus arteriosus, Retrognathia, Splenomegaly, Micrognathia, Bifid uvula, Submucous cleft ...	ORPHA:35107
Smith-Kingsmore Syndrome	Downslanted palpebral fissures, Wide anterior fontanel, Rhizomelia, Wide mouth, Long philtrum, Mi...	OMIM:616638
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Brachycephaly, Hypoplasia of the frontal bone, S-shaped palpebral fiss...	OMIM:229400
Frontometaphyseal Dysplasia 2	Conductive hearing impairment, Bifid uvula, Camptodactyly, Elbow contracture, Cleft palate, Short...	OMIM:617137
Holoprosencephaly 9	Dental malocclusion, Agenesis of incisor, Macrotia, Single naris, Anophthalmia, Hypoplasia of the...	OMIM:610829
Achalasia-Microcephaly Syndrome	Macrotia, Mandibular prognathia, Prominent nose, Epicanthus, Micrognathia	ORPHA:929
Boudin-Mortier Syndrome	Aortic root aneurysm, Mitral valve prolapse	OMIM:619543
Melkersson-Rosenthal Syndrome	Furrowed tongue, Facial palsy	OMIM:155900
Osteopetrosis, Autosomal Dominant 1	Mandibular pain, Conductive hearing impairment, Calvarial osteosclerosis, Torus palatinus, Thicke...	OMIM:607634
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Bicuspid aortic valve, Atrial septal d...	OMIM:613355
14Q22Q23 Microdeletion Syndrome	Underdeveloped nasal alae, Brachycephaly, Downslanted palpebral fissures, Short 4th metacarpal, S...	ORPHA:264200
Lissencephaly, X-Linked, 2	High palate, Wide anterior fontanel, Wide nasal bridge, Long philtrum, Micrognathia, Thin upper l...	OMIM:300215
Fragile X Syndrome	Macroorchidism, Ascending tubular aorta aneurysm, Mandibular prognathia, Mitral valve prolapse, S...	ORPHA:908
Fetal Hydantoin Syndrome	Hearing abnormality, Depressed nasal ridge, Wide mouth, Epicanthus, Short nose, Everted lower lip...	ORPHA:1912
Wiedemann-Rautenstrauch Syndrome	Brachycephaly, Delayed closure of the anterior fontanelle, Convex nasal ridge, Delayed eruption o...	OMIM:264090
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Sensorineural hearing impairment, Long philtrum, Micrognathia, Malar flattening, Glossoptosis, Os...	ORPHA:166100
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Brachycephaly, Short palpebral fissure, Short foot, Wide nasal bridge, Microgna...	OMIM:620073
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Abnormal nostril morphology, Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Long...	ORPHA:2878
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Downslanted palpebral fissures, Delayed closure of the anterior fontanelle, High palate, Long phi...	ORPHA:357074
Treacher Collins Syndrome 1	Conductive hearing impairment, Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, ...	OMIM:154500
Pallister-Hall Syndrome	Precocious puberty, Decreased circulating cortisol level, Cleft palate, Preductal coarctation of ...	OMIM:146510
Stickler Syndrome Type 1	Sensorineural hearing impairment, Long philtrum, Short nose, Hypoplasia of the maxilla, Cleft pal...	ORPHA:90653
Trichohepatoneurodevelopmental Syndrome	Brachycephaly, Decreased body weight, Plagiocephaly, EEG abnormality, Epicanthus, Synophrys, Micr...	OMIM:618268
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Patent ductus arteriosus, Anteriorly placed anus, Hypoplastic left heart, Low-set ears	OMIM:617661
Leukocyte Adhesion Deficiency Type Ii	Conductive hearing impairment, Wide nasal bridge, Broad eyebrow, Limb undergrowth, Gingival overg...	ORPHA:99843
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Subvalvular aortic stenosis, Complete atrioventricular canal defect, Coarctation of aorta	OMIM:217085
Craniofaciofrontodigital Syndrome	Abnormal cerebral vascular morphology, Pericardial effusion, Gingival overgrowth, Ventricular sep...	ORPHA:363705
Renpenning Syndrome 1	Brachycephaly, Wide nasal bridge, Epicanthus, Micrognathia, Synostosis of the proximal phalanx of...	OMIM:309500
Mosaic Trisomy 9	Patent ductus arteriosus, Asplenia, Camptodactyly of finger, High palate, Webbed neck, Ventricula...	ORPHA:99776
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Brachycephaly, Mandibular prognathia, Lip pit, Hypodontia, Large earlobe...	ORPHA:1236
Stickler Syndrome, Type Ii	Sensorineural hearing impairment, Pierre-Robin sequence, Arthropathy, Micrognathia, Bifid uvula, ...	OMIM:604841
Charcot-Marie-Tooth Disease, Type 4C	Segmental peripheral demyelination, Tongue atrophy, Peripheral axonal degeneration, Decreased mot...	OMIM:601596
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly, Central sleep apnea, Multifocal epileptiform discharges, EEG with abnormally slow ...	ORPHA:70472
Donnai-Barrow Syndrome	Downslanted palpebral fissures, Sensorineural hearing impairment, Wide anterior fontanel, Short n...	ORPHA:2143
Distal Monosomy 7Q36	Non-midline cleft lip, Flat face, Macrotia, Optic atrophy, Wide mouth, Micrognathia, Abnormal cal...	ORPHA:1636
Thoracoabdominal Syndrome	Patent ductus arteriosus, Cleft upper lip, Anencephaly, Ectopia cordis, Congenital diaphragmatic ...	OMIM:313850
Congenital Heart Defects And Ectodermal Dysplasia	Brachycephaly, Medial flaring of the eyebrow, Widely spaced teeth, Microdontia, Premature loss of...	OMIM:617364
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Brachycephaly, Sparse eyebrow, Thickened calvaria, Mandibular prognathia, High, narrow palate, Th...	OMIM:309583
Facioscapulohumeral Muscular Dystrophy 1	Sensorineural hearing impairment, Calf muscle hypertrophy, Tongue atrophy, Restrictive ventilator...	OMIM:158900
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Brachycephaly, Downslanted palpebral fissures, Delayed closure of the anterior fontanelle, Optic ...	OMIM:618736
Otofaciocervical Syndrome	Abnormal antihelix morphology, Macrotia, Conductive hearing impairment, High palate, Depressed na...	ORPHA:2792
Short-Rib Thoracic Dysplasia 12	Patent ductus arteriosus, Lobulated tongue, Patent foramen ovale, Neonatal death, Respiratory ins...	OMIM:269860
Miller-Dieker Lissencephaly Syndrome	Thick upper lip vermilion, Joint contracture of the hand, Recurrent aspiration pneumonia, Delayed...	OMIM:247200
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Patent ductus arteriosus, Patent foramen ovale, Increased variability in muscle fiber diameter, F...	ORPHA:17
Cheilitis Glandularis	Thick lower lip vermilion, Abnormal salivary gland morphology	ORPHA:1221
Branchio-Oculo-Facial Syndrome	Non-midline cleft lip, Upslanted palpebral fissure, Conductive hearing impairment, High palate, W...	ORPHA:1297
2Q37 Microdeletion Syndrome	Underdeveloped nasal alae, Sparse eyebrow, Upslanted palpebral fissure, Conductive hearing impair...	ORPHA:1001
Asparagine Synthetase Deficiency	Respiratory insufficiency, Exaggerated startle response, Macrotia, EEG with burst suppression, Mi...	OMIM:615574
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Sensorineural hearing impairment, Short 5th metacarpal, Pierre-Robin sequence, Micrognathia, Midf...	OMIM:215150
Musculocontractural Ehlers-Danlos Syndrome	Downslanted palpebral fissures, Macrotia, Pneumothorax, High palate, Long philtrum, Prominent nas...	ORPHA:2953
Acrofacial Dysostosis, Cincinnati Type	Patent ductus arteriosus, Retrognathia, Macrotia, Anotia, Microtia, Micrognathia, Midface retrusi...	OMIM:616462
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Ventricular septal defect, Death in infancy, Malabsorption, Aganglionic...	ORPHA:452
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Conductive hearing impairment, Short 5th finger, Epicanthus, Congenital hip dislocation, Atresia ...	OMIM:133705
Congenital Myopathy 11	Patent ductus arteriosus, Patent foramen ovale, Apneic episodes in infancy, Atrial septal defect,...	OMIM:619967
Mosaic Trisomy 16	Patent ductus arteriosus, Ventricular septal defect, Wide mouth, Craniofacial asymmetry, Maternal...	ORPHA:1708
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Conductive hearing impairment, Sensorineural hearing impairment, Fused cervical ...	OMIM:214300
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Patent ductus arteriosus, Patent foramen ovale, Long philtrum, Ventricular septal defect, Midface...	OMIM:618870
Aarskog-Scott Syndrome	Camptodactyly of finger, Cleft upper lip, Long philtrum, Delayed eruption of teeth, Everted lower...	ORPHA:915
Desbuquois Dysplasia 1	Advanced ossification of carpal bones, Midface retrusion, Smooth philtrum, Radioulnar dislocation...	OMIM:251450
Vitamin K Antagonist Embryofetopathy	Respiratory insufficiency, Optic atrophy, Microtia, Macroglossia, Short nose, Depressed nasal bri...	ORPHA:1914
8P11.2 Deletion Syndrome	Patent ductus arteriosus, High palate, Hemolytic anemia, Hypogonadism, Preauricular pit, Microgna...	ORPHA:251066
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Patent ductus arteriosus, Anal stenosis, High palate, Long philtrum, Low-set ears, Micrognathia, ...	OMIM:614080
Loeys-Dietz Syndrome 5	Retrognathia, Congenital finger flexion contractures, Overhanging nasal tip, Brachycephaly, Downs...	OMIM:615582
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Macrotia, Optic atrophy, Epicanthus, Keratoconjunctivitis sicca, Short nose, Microp...	OMIM:234050
Polyvalvular Heart Disease Syndrome	Prominent nose, High palate, Micrognathia, Dolichocephaly, Dental crowding, Short philtrum, Ptosi...	ORPHA:228410
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Underdeveloped nasal alae, Thick upper lip vermilion, Epicanthus, Thick lower lip vermilion, Midf...	OMIM:608624
Cutis Laxa, Autosomal Recessive, Type Iib	Downslanted palpebral fissures, High palate, Narrow nasal ridge, Long philtrum, Protruding ear, M...	OMIM:612940
Inverted Duplicated Chromosome 15 Syndrome	Brachycephaly, Downslanted palpebral fissures, High palate, Epicanthus, Synophrys, Short philtrum...	ORPHA:3306
Immunodeficiency 9	Recurrent aphthous stomatitis, Hypoplasia of the thymus, Death in infancy, Stomatitis, Myopathy, ...	OMIM:612782
Warburg-Cinotti Syndrome	Wrist flexion contracture, Conductive hearing impairment, Pneumothorax, Epicanthus, Elbow flexion...	OMIM:618175
Koolen-De Vries Syndrome	Aortic root aneurysm, Patent ductus arteriosus, Cleft upper lip, Macrotia, Narrow palate, High pa...	OMIM:610443
Cerebellofaciodental Syndrome	Dental malocclusion, Genu valgum, Sparse eyebrow, Macrodontia of permanent maxillary central inci...	OMIM:616202
Ring Chromosome 7 Syndrome	Brachycephaly, Short 5th finger, Plagiocephaly, Wide nasal bridge, Epicanthus, Bifid uvula, Cleft...	ORPHA:1449
Noonan Syndrome 9	Webbed neck, Ventricular septal defect, Coarctation of aorta, Short neck, Pulmonic stenosis	OMIM:616559
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Patent ductus arteriosus, Patent foramen ovale, Anemia, Conductive hearing impairment, Sensorineu...	OMIM:300990
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Brachycephaly, Plagiocephaly, High palate, Interictal epileptiform activity, Thin upper lip vermi...	OMIM:618862
Frontorhiny	Camptodactyly of finger, Bifid tongue, Midline nasal groove, Hypoplastic frontal sinuses, Epicant...	ORPHA:391474
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Respiratory insufficiency, Decreased response to growth hormone stimula...	OMIM:617260
Neurofibroma	Spinal neurofibromas, Atypical neurofibromatosis, Peripheral nerve compression, Multiple intestin...	ORPHA:252183
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Retrognathia, Short toe, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, High ...	ORPHA:98791
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Short toe, Delayed closure of the anterior fontanelle, Downslanted palpebral fissures, Blepharoch...	OMIM:225410
Cockayne Syndrome A	Dental malocclusion, Enamel hypoplasia, Mandibular prognathia, Hip contracture, Delayed eruption ...	OMIM:216400
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Non-midline cleft lip, Mandibular prognathia, Spinal dysraphism, Encephalocele, Vent...	ORPHA:1908
Xia-Gibbs Syndrome	Small earlobe, Downslanted palpebral fissures, Micrognathia, Failure to thrive, Snoring, Depresse...	OMIM:615829
Cardiac Valvular Dysplasia 1	Patent foramen ovale, Left aortic arch with cervical origin of the right subclavian artery, Ventr...	OMIM:212093
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Patent ductus arteriosus, Respiratory insufficiency, Ventricular septal defect, Sideroblastic ane...	OMIM:617021
Congenital Gerbode Defect	Pulmonary arterial hypertension, Vascular dilatation, Bacterial endocarditis, Ventricular septal ...	ORPHA:99095
Tarp Syndrome	High palate, Low-set ears, Optic atrophy, Tongue nodules, Microtia, Micrognathia, Prominent antih...	OMIM:311900
Trisomy 18P	Underdeveloped nasal alae, Wide nasal bridge, High, narrow palate, Blepharophimosis, Micrognathia...	ORPHA:1715
Ogden Syndrome	Delayed cranial suture closure, Underdeveloped nasal alae, Downslanted palpebral fissures, Macrot...	ORPHA:276432
Acrofacial Dysostosis 1, Nager Type	Absent thumb, Conductive hearing impairment, Micrognathia, Hip dislocation, Midface retrusion, Li...	OMIM:154400
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Optic atrophy, Epicanthus, Micrognathia, Short nose, Large earlobe, Failure to thrive,...	OMIM:615851
Autosomal Dominant Omodysplasia	Patellar dislocation, Rhizomelia, Short 1st metacarpal, Long philtrum, Micrognathia, Short nose, ...	ORPHA:93328
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Dental malocclusion, Rhizomelia, Short metacarpal, Short finger, Recurrent otitis media	OMIM:608940
8P23.1 Duplication Syndrome	Ventricular septal defect, Long philtrum, Adrenal insufficiency, Pulmonic stenosis, Tetralogy of ...	ORPHA:251076
Lethal Faciocardiomelic Dysplasia	Patent ductus arteriosus, Microretrognathia, Hypoplastic left heart, Narrow mouth, Microglossia	ORPHA:1972
Bone Dysplasia, Lethal Holmgren Type	Patent ductus arteriosus, Hearing abnormality, Anemia, Respiratory insufficiency, Redundant neck ...	ORPHA:1842
Orofaciodigital Syndrome Xix	Cleft soft palate, Wide nasal bridge, Epicanthus, Microdontia, Additional crus of antihelix, Cupp...	OMIM:620107
Osteoglosphonic Dysplasia	Failure to thrive in infancy, Rhizomelia, Micrognathia, Multiple unerupted teeth, Tooth agenesis,...	ORPHA:2645
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Stapes ankylosis, Conductive hearing impairment, Pericardial effusion, M...	ORPHA:51608
Van Der Woude Syndrome 2	Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate	OMIM:606713
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, High palate, Long philtrum, Low posterior hairline, Short philtrum...	OMIM:618929
Trichorhinophalangeal Syndrome Type 1 And 3	Camptodactyly of finger, Sparse eyebrow, Macrotia, Sparse eyelashes, High palate, Short metacarpa...	ORPHA:77258
Dyssegmental Dysplasia, Silverman-Handmaker Type	Respiratory insufficiency, Flat face, Wide nasal bridge, Micrognathia, Pterygium, Narrow mouth, M...	OMIM:224410
Acromicric Dysplasia	Abnormal eyebrow morphology, Small hand, Short metacarpal, Long philtrum, Thick lower lip vermili...	ORPHA:969
3C Syndrome	Atrioventricular canal defect, Ectopic anus, Optic atrophy, Micrognathia, Short neck, Cleft palat...	ORPHA:7
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Lobulated tongue, Short philtrum, Short nose, Thin upper lip vermilion, Depressed nasal bridge, D...	OMIM:613443
Oculopharyngodistal Myopathy 3	Conductive hearing impairment, Ptosis, Tremor, Sensorineural hearing impairment	OMIM:619473
Autosomal Dominant Robinow Syndrome	Camptodactyly of finger, Bifid tongue, Wide nasal bridge, Epicanthus, Micrognathia, Hip dislocati...	ORPHA:3107
Achondrogenesis	Flat face, Long philtrum, Micrognathia, Frontal bossing, Short nose, Anteverted nares, Micromelia	ORPHA:932
Chromosome Xq21 Deletion Syndrome	Incomplete partition of the cochlea, Conductive hearing impairment, Progressive sensorineural hea...	OMIM:303110
Paternal Uniparental Disomy Of Chromosome 6	Patent ductus arteriosus, Retrognathia, Precocious puberty, High palate, Ventricular septal defec...	ORPHA:96191
Acrofacial Dysostosis, Palagonia Type	Abnormal eyelid morphology, Short 4th metacarpal, Small hand, Sparse eyelashes, Sparse lateral ey...	ORPHA:1787
Achondroplasia	Genu varum, Choanal stenosis, Conductive hearing impairment, Rhizomelia, Short femoral neck, Shor...	OMIM:100800
Cardiomyopathy, Familial Restrictive, 3	Restrictive cardiomyopathy, Aortic aneurysm, Right atrial enlargement, Myocardial sarcomeric disa...	OMIM:612422
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Respiratory insufficiency, Underdeveloped nasal alae, Hearing abnormality, Blepharophimosis, Bipa...	ORPHA:2031
Coffin-Lowry Syndrome	Optic atrophy, Delayed eruption of teeth, Everted lower lip vermilion, Narrow palate, Abnormal mi...	ORPHA:192
Fibrodysplasia Ossificans Progressiva	Respiratory insufficiency, Conductive hearing impairment, Sensorineural hearing impairment, Short...	OMIM:135100
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Retrognathia, Flat face, Patellar hypoplasia, Sensorineural hearing impairment, Depressed nasal r...	ORPHA:464288
Cherubism	Dental malocclusion, Narrow palate, Marcus Gunn pupil, Jaw swelling, Oligodontia, Alveolar ridge ...	OMIM:118400
Achondrogenesis Type 1A	Flat face, Short foot, Long philtrum, Micrognathia, Short nose, Frontal bossing, Anteverted nares...	ORPHA:93299
Heterotaxy, Visceral, 2, Autosomal	Double outlet right ventricle, Asplenia, Atrioventricular canal defect, Left atrial isomerism, Bi...	OMIM:605376
Dental Anomalies And Short Stature	Hypoplasia of the maxilla, Amelogenesis imperfecta, Mandibular prognathia	OMIM:601216
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
X-Linked Intellectual Disability, Armfield Type	Brachycephaly, Downslanted palpebral fissures, Mandibular prognathia, Macrotia, Abnormality of th...	ORPHA:85276
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Underdeveloped nasal alae, High palate, Long philtrum, Micrognathia, Acetabular dysplasia, Everte...	OMIM:616549
Three M Syndrome 1	Mandibular prognathia, Joint dislocation, Short 5th finger, Long philtrum, Short ribs, Small for ...	OMIM:273750
Multisystemic Smooth Muscle Dysfunction Syndrome	Patent ductus arteriosus, Common carotid artery aneurysm, Aortic arch aneurysm, Vascular dilatati...	OMIM:613834
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, 11 pairs of ribs, Prominent nose, Wide anterior fontanel, Wide nasal bridge, High pa...	OMIM:201170
Holoprosencephaly 7	Wide nasal bridge, Synophrys, Midface retrusion, Median cleft lip, Hypoplastic nasal septum, Depr...	OMIM:610828
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Failure to thrive, Thin upper lip vermilion, Narrow mouth, Anteverted nares, Upslante...	OMIM:613735
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Ventricular septal defect, Atrial septal defect	OMIM:301039
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Thin vermilion border, Narrow mouth, Short nose	ORPHA:2370
Cardiospondylocarpofacial Syndrome	Conductive hearing impairment, Synostosis of carpal bones, Failure of eruption of permanent teeth...	ORPHA:3238
Osteogenesis Imperfecta	Brachycephaly, Convex nasal ridge, Delayed eruption of teeth, Micrognathia, Prominent occiput, Di...	ORPHA:666
Microcephaly-Deafness-Intellectual Disability Syndrome	Sensorineural hearing impairment, Epicanthus, Micrognathia, Everted lower lip vermilion, Abnormal...	ORPHA:2533
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Sparse eyebrow, Non-midline cleft lip, Conductive hearing impairment, Wide nasal b...	ORPHA:1071
Achondrogenesis Type 1B	Flat face, Long philtrum, Micrognathia, Short nose, Frontal bossing, Anteverted nares, Micromelia...	ORPHA:93298
Glass Syndrome	Conical tooth, Micrognathia, Midface retrusion, Smooth philtrum, Cleft palate, Gingival overgrowt...	OMIM:612313
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Underdeveloped nasal alae, Short palpebral fissure, Decreased body weight, Plagiocephaly, EEG abn...	OMIM:619005
Faundes-Banka Syndrome	Underdeveloped nasal alae, Downslanted palpebral fissures, Conductive hearing impairment, Plagioc...	OMIM:619376
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Macrodontia of permanent maxillary central incisor, Central sleep a...	OMIM:620114
Congenital Disorder Of Glycosylation, Type Iit	Brachycephaly, Downslanted palpebral fissures, Conductive hearing impairment, Small hand, Short p...	OMIM:618885
Retinitis Pigmentosa	Conductive hearing impairment, Sensorineural hearing impairment, Wide nasal bridge, Optic atrophy...	ORPHA:791
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Patent ductus arteriosus, Neoplasm of the tongue, Retrognathia, Abnormal antihelix morphology, At...	ORPHA:3047
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Acromelic Frontonasal Dysplasia	Brachycephaly, Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Wide mouth, Bifid nose, Medi...	ORPHA:1827
Lathosterolosis	Downslanted palpebral fissures, High palate, Long philtrum, Epicanthus, Micrognathia, Biparietal ...	ORPHA:46059
Gaucher Disease, Perinatal Lethal	Retrognathia, Decreased body weight, Everted upper lip vermilion, Microtia, Micrognathia, Open mo...	OMIM:608013
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla	OMIM:156510
Spinocerebellar Ataxia-Dysmorphism Syndrome	Optic atrophy, Epicanthus, Dolichocephaly, Short nose, Ptosis, Downturned corners of mouth, Antev...	ORPHA:1185
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly, Wide mouth, Synophrys, Ptosis, Upslanted palpebral fissure, Overfolded helix	OMIM:616083
Aarskog-Scott Syndrome	Downslanted palpebral fissures, Cleft upper lip, Short 5th finger, Short foot, Wide nasal bridge,...	OMIM:305400
Deafness-Craniofacial Syndrome	Patent ductus arteriosus, Bifid tongue, Sensorineural hearing impairment, Short lingual frenulum,...	ORPHA:3241
Alazami Syndrome	Wide nose, Short palpebral fissure, Abnormality of the orbital region, Sparse eyebrow, Wide mouth...	ORPHA:319671
Monosomy 9Q22.3	Downslanted palpebral fissures, Odontogenic keratocysts of the jaw, Long philtrum, Delayed erupti...	ORPHA:77301
Atresia Of External Auditory Canal And Conductive Deafness	Stenosis of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the...	OMIM:108760
Cleidocranial Dysplasia 1	Hypoplastic frontal sinuses, Wide nasal bridge, Short middle phalanx of the 2nd finger, Micrognat...	OMIM:119600
Plaa-Associated Neurodevelopmental Disorder	Respiratory insufficiency, Exaggerated startle response, Sensorineural hearing impairment, High p...	ORPHA:521426
Orofaciodigital Syndrome Type 4	Camptodactyly of finger, Conductive hearing impairment, Microtia, third degree, Micrognathia, Bif...	ORPHA:2753
Ramos-Arroyo Syndrome	Patent ductus arteriosus, Long philtrum, Aganglionic megacolon, Abnormal autonomic nervous system...	ORPHA:1051
Doors Syndrome	Brachycephaly, Short 5th finger, Wide nasal bridge, Epicanthus, EEG abnormality, Optic atrophy, S...	ORPHA:79500
Bartsocas-Papas Syndrome	Underdeveloped nasal alae, Absent thumb, Aplasia/Hypoplasia of the eyebrow, Ankyloblepharon, Micr...	ORPHA:1234
Ohdo Syndrome, X-Linked	Decreased body weight, Wide nasal bridge, Epicanthus, Micrognathia, Microdontia, Smooth philtrum,...	OMIM:300895
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, High palate, Decreased testicular size, Hypoplasia of the maxilla, Crypt...	ORPHA:85279
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Cleft mandible, Exaggerated median tongue furrow, Micrognathia, Synophrys, Everted lower lip verm...	OMIM:608670
Cap Myopathy	Aortic root aneurysm, Mitral valve prolapse	ORPHA:171881
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Brachycephaly, Dental crowding, Central apnea	ORPHA:320385
Rubinstein-Taybi Syndrome	Respiratory insufficiency, Downslanted palpebral fissures, Convex nasal ridge, High palate, Nasol...	ORPHA:783
Seckel Syndrome 5	Retrognathia, Enamel hypoplasia, 11 pairs of ribs, Convex nasal ridge, Downslanted palpebral fiss...	OMIM:613823
Opsismodysplasia	Respiratory insufficiency, Short foot, Rhizomelia, Short metacarpal, Long philtrum, Hypoplasia of...	OMIM:258480
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Tooth malposition, Calvarial osteosclerosis, Bony paranasal bossing, Mixed...	OMIM:123000
Arboleda-Tham Syndrome	Optic atrophy, Recurrent aspiration pneumonia, Secundum atrial septal defect, Midface retrusion, ...	OMIM:616268
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Patent ductus arteriosus, Anemia, High palate, Megaloblastic anemia, Microtia, Glossitis, Stomati...	OMIM:277380
Short Rib-Polydactyly Syndrome	Intestinal malrotation, Situs inversus totalis, Abnormal heart morphology, Cleft lip, Respiratory...	ORPHA:1505
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Wide anterior fontanel, Decreased proportion of CD8-positive T cells, M...	OMIM:617241
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Downslanted palpebral fissures, Plagiocephaly, Wide anterior fontanel, High palate, Long philtrum...	ORPHA:457279
Megabladder, Congenital	Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,...	OMIM:618719
X-Linked Intellectual Disability, Snyder Type	Brachycephaly, EEG abnormality, Synophrys, Everted lower lip vermilion, Smooth philtrum, Cleft pa...	ORPHA:3063
Histiocytosis-Lymphadenopathy Plus Syndrome	Camptodactyly of finger, Elbow flexion contracture, Camptodactyly, Hepatosplenomegaly, Cervical l...	OMIM:602782
Mucopolysaccharidosis-Plus Syndrome	Patent ductus arteriosus, Leukopenia, Anemia, Flexion contracture, Optic atrophy, Macroglossia, A...	OMIM:617303
Acrodysostosis 2 With Or Without Hormone Resistance	Short metatarsal, Mandibular prognathia, Advanced ossification of carpal bones, Short metacarpal,...	OMIM:614613
Distal Monosomy 9P	Abnormal antihelix morphology, Upslanted palpebral fissure, Aplasia/Hypoplasia of the earlobes, M...	ORPHA:1642
Larsen Syndrome	Conductive hearing impairment, Hip dislocation, Midface retrusion, Tracheomalacia, Elbow dislocat...	OMIM:150250
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory insufficiency, Plagiocephaly, Micrognathia, Microdontia, Midface retrusion, Posterior...	ORPHA:536467
Alkuraya-Kucinskas Syndrome	Plagiocephaly, High palate, Micrognathia, Short nose, Pleural effusion, Depressed nasal bridge, A...	OMIM:617822
Craniofacial-Deafness-Hand Syndrome	Downslanted palpebral fissures, Flat face, Sensorineural hearing impairment, Narrow naris, Short ...	OMIM:122880
Cardiomyopathy, Dilated, 1S	Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Perimembranous ventricular septal...	OMIM:613426
Alpha-Mannosidosis, Infantile Form	Brachycephaly, Genu valgum, Talipes valgus, Mandibular prognathia, Abnormality of the sphenoid si...	ORPHA:309282
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Brachycephaly, Dental crowding, Central apnea	OMIM:615031
Congenital Disorder Of Glycosylation, Type Ig	Patent ductus arteriosus, Patent foramen ovale, Sensorineural hearing impairment, Short philtrum,...	OMIM:607143
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Brachycephaly, Downslanted palpebral fissures, Aplasia/Hypoplasia of the...	ORPHA:1784
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Brachycephaly, Prominent nose, Long philtrum, Wide nasal bridge, Epicanthus, Wide mouth, Bipariet...	ORPHA:1292
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Patent ductus arteriosus, Atrioventricular canal defect, Cyst of the ductus choledochus, Spina bi...	OMIM:619480
Mungan Syndrome	Barrett esophagus, Perimembranous ventricular septal defect, Megaduodenum, Pulmonic stenosis, Abn...	OMIM:611376
Orofaciodigital Syndrome V	Optic disc coloboma, Lobulated tongue, Bifid tongue, High palate, Low-set ears, Ventricular septa...	OMIM:174300
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Flat face, Rhizomelia, Long philtrum, Hypoplasia of the radius, Micrognathia, Short nose, Apnea, ...	OMIM:602613
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev...	OMIM:616648
Menke-Hennekam Syndrome 1	Everted upper lip vermilion, Epicanthus, Micrognathia, Prominent inferior crus of antihelix, Clef...	OMIM:618332
Frontometaphyseal Dysplasia	Camptodactyly of finger, Wrist flexion contracture, Conductive hearing impairment, Wide nasal bri...	ORPHA:1826
Benign Schwannoma	Hearing abnormality, Abnormal parotid gland morphology, Scleral schwannoma, Intestinal polyposis,...	ORPHA:252164
Tenosynovial Giant Cell Tumor	Abnormality of the knee, Conductive hearing impairment, Synovial hypertrophy, Abnormality of the ...	ORPHA:66627
Mogs-Cdg	Retrognathia, Wide nose, Short palpebral fissure, Hypoventilation, Sensorineural hearing impairme...	ORPHA:79330
Loeys-Dietz Syndrome 4	Aortic tortuosity, Aortic root aneurysm, Ascending tubular aorta aneurysm, Bicuspid aortic valve,...	OMIM:614816
Alg12-Cdg	Patent ductus arteriosus, Patent foramen ovale, Sensorineural hearing impairment, B lymphocytopen...	ORPHA:79324
Fraser Syndrome	Conductive hearing impairment, Cryptophthalmos, Midline nasal groove, Wide nasal bridge, Bifid to...	ORPHA:2052
Ablepharon-Macrostomia Syndrome	Short upper lip, Microtia, third degree, Wide mouth, Camptodactyly, Anteriorly placed anus, Micro...	OMIM:200110
Criss-Cross Heart	Respiratory insufficiency, Ventricular septal defect, Abnormal mitral valve morphology, Mitral st...	ORPHA:1461
Monosomy 22Q13.3	Dental malocclusion, Macrotia, Wide nasal bridge, Epicanthus, Dolichocephaly, Long eyelashes, Den...	ORPHA:48652
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Flat face, Epicanthus, Multiple pterygia, Pterygium, Microretrognathia, Frontal bossing, Narrow m...	OMIM:177980
Hunter-Macdonald Syndrome	Delayed cranial suture closure, Brachycephaly, Short palpebral fissure, Conductive hearing impair...	OMIM:611962
Tetraamelia Syndrome 2	Hypoplastic pulmonary veins, Low-set ears, Ventricular septal defect, Bilateral cleft lip, Ankylo...	OMIM:618021
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Retrognathia, Dental malocclusion, Wide nose, Convex nasal ridge, Prominent nose, Downslanted pal...	OMIM:601552
Orofaciodigital Syndrome Type 2	Short tibia, Conductive hearing impairment, Bifid tongue, Wide nasal bridge, Micrognathia, Taurod...	ORPHA:2751
Noonan Syndrome 1	Dental malocclusion, Downslanted palpebral fissures, Sensorineural hearing impairment, High palat...	OMIM:163950
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Shortening of all distal phalanges of the fingers, Short nose, Large earlobe, ...	OMIM:615716
Prune Belly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Decreased testicular size, Volvulus, Anal at...	ORPHA:2970
Dermotrichic Syndrome	Macrotia, EEG abnormality, Blepharophimosis, Aganglionic megacolon, Frontal bossing, Short nose, ...	ORPHA:99688
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Bifid tongue, Wide nasal bridge, Epicanthus, Micrognathia, Midface retru...	ORPHA:1507
Adnp Syndrome	Brachycephaly, Plagiocephaly, Bilateral ptosis, Aspiration, Microtia, Advanced eruption of teeth,...	ORPHA:404448
Contractures-Developmental Delay-Pierre Robin Syndrome	Wrist flexion contracture, Microtia, Micrognathia, Lop ear, Atrial septal defect, Peripheral pulm...	ORPHA:436003
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Respiratory insufficiency, Exaggerated startle response, High palate, Long philtrum, Optic atroph...	OMIM:617527
2Q23.1 Microdeletion Syndrome	Brachycephaly, Synophrys, Everted lower lip vermilion, Tented upper lip vermilion, Malar flatteni...	ORPHA:228402
Thanatophoric Dysplasia Type 2	Patent ductus arteriosus, Respiratory insufficiency, Encephalocele, Atrial septal defect, Increas...	ORPHA:93274
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Retrognathia, Downslanted palpebral fissures, Epicanthus, Micrognathia, Prominent nasal tip, Midf...	OMIM:617101
Trisomy 18	Camptodactyly of finger, Non-midline cleft lip, Pointed helix, Narrow palate, Epicanthus, Blephar...	ORPHA:3380
Codas Syndrome	Enamel hypoplasia, Genu valgum, Conductive hearing impairment, Sensorineural hearing impairment, ...	OMIM:600373
Marfan Syndrome	Retrognathia, Protrusio acetabuli, Downslanted palpebral fissures, Increased axial length of the ...	OMIM:154700
Baraitser-Winter Cerebrofrontofacial Syndrome	Delayed cranial suture closure, Wide nasal bridge, Epicanthus, Micrognathia, Large fontanelles, D...	ORPHA:2995
Fixed Subaortic Stenosis	Patent ductus arteriosus, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Bacter...	ORPHA:3092
Weill-Marchesani Syndrome 2	Patent ductus arteriosus, High palate, Narrow palate, Ventricular septal defect, Flexion contract...	OMIM:608328
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Sensorineural hearing impairment, Hypodontia, Interictal EEG abnormality, Midface retrusion, Resp...	ORPHA:544503
Congenital Disorder Of Glycosylation, Type Iq	Brachycephaly, Optic atrophy, Failure to thrive, Depressed nasal bridge, Microphthalmia, Low-set ...	OMIM:612379
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:397973
Cockayne Syndrome Type 1	Conjunctivitis, Enamel hypoplasia, Mandibular prognathia, Macrotia, Delayed eruption of primary t...	ORPHA:90321
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Delayed cranial suture closure, Brachycephaly, Downslanted palpebral fissures, Joint dislocation,...	OMIM:601776
Metaphyseal Chondrodysplasia, Jansen Type	Knee flexion contracture, Brachycephaly, Choanal stenosis, Tooth malposition, Hip contracture, Sh...	OMIM:156400
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Underdeveloped nasal alae, Genu valgum, Mandibular prognathia, Sensorineural hearing impairment, ...	OMIM:616007
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pancreatic hypoplasia, Retrognathia, Biliary hyperplasia, Low-set ears, B lymphocytopenia, Perime...	ORPHA:83617
Braddock Syndrome	Pulmonary arterial hypertension, Epicanthus, Blepharophimosis, Micrognathia, Missing ribs, Failur...	ORPHA:52047
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Brachycephaly, Hypsarrhythmia, Choreoathetosis, Failure to thrive, Athetosis	OMIM:309541
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent ductus arteriosus, Patent foramen ovale, High palate, Sensorineural hearing impairment, Op...	OMIM:616975
Microgastria-Limb Reduction Defect Syndrome	Truncus arteriosus, Esophageal atresia, Arrhinencephaly, Perineal fistula, Congenital muscular to...	ORPHA:2538
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Wide nasal bridge, Epicanthus, Aplasia/hypoplasia of the femur, Micrognathia, Hip dislocation, Di...	OMIM:609945
Phace Association	Patent ductus arteriosus, Anomalous branches of internal carotid artery, Vascular dilatation, Hor...	OMIM:606519
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Delayed cranial suture closure, Brachycephaly, Downslanted palpebral fissures, Depressed nasal ri...	ORPHA:2211
Arthrogryposis, Distal, Type 2B1	Camptodactyly of finger, Downslanted palpebral fissures, Mandibular prognathia, High palate, Long...	OMIM:601680
White-Sutton Syndrome	Brachycephaly, Sensorineural hearing impairment, High palate, Optic atrophy, EEG abnormality, Mid...	ORPHA:468678
Periventricular Nodular Heterotopia	Patent ductus arteriosus, Pyloric stenosis, Aortic aneurysm, Abnormal heart valve morphology	ORPHA:98892
Bohring-Opitz Syndrome	Wide nasal bridge, Epicanthus, Micrognathia, Dislocated radial head, Prominent metopic ridge, Pos...	OMIM:605039
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Midface retrusion, Craniosynostosis, Choanal atresia	OMIM:612247
Khan-Khan-Katsanis Syndrome	Delayed closure of the anterior fontanelle, Sensorineural hearing impairment, Epiblepharon, Micro...	OMIM:618460
Lig4 Syndrome	Brachycephaly, Convex nasal ridge, Wide nasal bridge, Epicanthus, Micrognathia, Biparietal narrow...	ORPHA:99812
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Oligomeganephronia	Micrognathia, Secundum atrial septal defect, Congenital diaphragmatic hernia, Pulmonary venous oc...	ORPHA:2260
Blau Syndrome	Camptodactyly of finger, Pulmonary arterial hypertension, Anemia, Large vessel vasculitis, Aortic...	ORPHA:90340
Mucolipidosis Type Ii	Knee flexion contracture, Flat face, Conductive hearing impairment, Hip contracture, Sensorineura...	ORPHA:576
Ctcf-Related Neurodevelopmental Disorder	Epicanthus, Synophrys, Microdontia, Midface retrusion, Cleft palate, Thick eyebrow, Cupped ear, S...	ORPHA:363611
Holt-Oram Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ...	ORPHA:392
Multicentric Osteolysis, Nodulosis, And Arthropathy	Brachycephaly, Wrist flexion contracture, Delayed closure of the anterior fontanelle, Protrusio a...	OMIM:259600
Glutamine Deficiency, Congenital	Wide nasal bridge, Short nose, Apnea, Depressed nasal bridge, Thin vermilion border, Anteverted n...	OMIM:610015
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Conductive hearing impairment, Convex nasal ridge, Patellar dislocation, EEG abnormality, Microgn...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Conductive hearing impairment, Convex nasal ridge, Patellar dislocation, EEG abnormality, Microgn...	ORPHA:353277
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Osteogenesis Imperfecta, Type Xiii	Dentinogenesis imperfecta, Decreased body weight, Long philtrum, Protruding ear, Long palpebral f...	OMIM:614856
Pterygium Colli, Isolated	Epicanthus, Protruding ear, Short nose	OMIM:177990
Prolidase Deficiency	High palate, Asthma, Micrognathia, Short nose, Recurrent pneumonia, Failure to thrive, Concave na...	OMIM:170100
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Left unicoronal synostosis, Plagiocephaly, Wide nasal bridge, Shortening of all distal phalanges ...	OMIM:614749
Cantu Syndrome	Patent ductus arteriosus, Thick upper lip vermilion, Congenital hypertrophy of left ventricle, Lo...	OMIM:239850
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis	ORPHA:79094
Ohdo Syndrome, Sbbys Variant	Patellar dislocation, Blepharophimosis, Micrognathia, Microdontia, Prominent occiput, Thin upper ...	OMIM:603736
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Mandibular prognathia, Macrotia, Midface retrusion, Short philtrum,...	OMIM:617864
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Posteriorly rotated ears, Abnormal pinna morphology, Microretrognathia	ORPHA:228396
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	EEG abnormality, Synophrys, Midface retrusion, Smooth philtrum, Cleft palate, Posteriorly rotated...	OMIM:301044
8Q22.1 Microdeletion Syndrome	Abnormal antihelix morphology, Camptodactyly of finger, Long philtrum, Hypogonadism, Submucous cl...	ORPHA:178303
Melanocytic Nevus Syndrome, Congenital	Full cheeks, Prominence of the premaxilla	OMIM:137550
Localized Scleroderma	Dental malocclusion, Abnormality of the dentition, Arthritis, Abnormal upper lip morphology, Shor...	ORPHA:90289
Focal Dermal Hypoplasia	Patent ductus arteriosus, Camptodactyly of finger, Diastasis recti, Ventricular septal defect, Ab...	ORPHA:2092
Orofaciodigital Syndrome Vi	11 pairs of ribs, Lobulated tongue, Cleft upper lip, Conductive hearing impairment, High palate, ...	OMIM:277170
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect, Glossoptosis, Death in infancy	OMIM:614876
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly, Choanal stenosis, Flat face, Missing ribs, Short nose, Bilateral choanal atresia, ...	OMIM:619859
Wiskott-Aldrich Syndrome	Hypoplasia of the thymus, Thrombocytopenia, Chronic pulmonary obstruction, Neutropenia, Microcyti...	ORPHA:906
Laubry-Pezzi Syndrome	Patent ductus arteriosus, Patent foramen ovale, Elevated pulmonary artery pressure, Ascending tub...	ORPHA:99094
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Flat face, Glossoptosis, Micrognathia, Delayed ossification of carpal bones, Abnormal respiratory...	ORPHA:93346
Van Den Ende-Gupta Syndrome	Convex nasal ridge, Micrognathia, Elbow flexion contracture, Dislocated radial head, Everted lowe...	OMIM:600920
Stuve-Wiedemann Syndrome 1	Respiratory insufficiency, Short tibia, Micrognathia, Elbow flexion contracture, Abnormal autonom...	OMIM:601559
Myopia 23, Autosomal Recessive	Increased axial length of the globe	OMIM:615431
Pseudoaminopterin Syndrome	Hip subluxation, Short 4th metacarpal, Epicanthus, Micrognathia, Microdontia, Orofacial cleft, Bl...	ORPHA:221120
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly, Downslanted palpebral fissures, Flat face, Wide nasal bridge, Wide mouth, Microgna...	ORPHA:2062
Roberts Syndrome	Knee flexion contracture, Wrist flexion contracture, Underdeveloped nasal alae, Aplasia/Hypoplasi...	ORPHA:3103
Cartilage-Hair Hypoplasia	Respiratory insufficiency, Brachycephaly, Convex nasal ridge, Wide nasal bridge, Epicanthus, EEG ...	ORPHA:175
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Mandibular prognathia	OMIM:300676
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Flat face, Sensorineural hearing impairment, Elbow flexion contracture, Shallow orbits, Short nos...	OMIM:612394
Disorder Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Microtia, Synophrys, Short philtrum, Short nose, Downturned corners of mouth, Severe...	ORPHA:2983
Specc1L-Related Hypertelorism Syndrome	Patent ductus arteriosus, Long philtrum, Ventricular septal defect, Preauricular pit, Advanced er...	ORPHA:1519
Congenital Heart Defects, Multiple Types, 3	Abnormal heart morphology, Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal...	OMIM:614954
Meckel Syndrome, Type 1	Camptodactyly of finger, Asplenia, Abnormal cardiac septum morphology, Micrognathia, Short neck, ...	OMIM:249000
Isolated Cleft Lip	Supernumerary maxillary incisor, Non-midline cleft lip, Conductive hearing impairment, Bilateral ...	ORPHA:199302
Angelman Syndrome	Brachycephaly, Mandibular prognathia, EEG abnormality, Widely spaced teeth, Wide mouth, Macroglos...	OMIM:105830
Ehlers-Danlos Syndrome, Classic-Like, 2	Aortic root aneurysm, Carotid artery stenosis, Webbed neck, Mitral valve prolapse, Prominent supe...	OMIM:618000
Tetrasomy 18P	Downslanted palpebral fissures, Long philtrum, Epicanthus, Short nose, Narrow mouth, Low-set, pos...	ORPHA:3307
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy,...	OMIM:125250
Kabuki Syndrome	Conductive hearing impairment, Short 5th finger, Lip pit, EEG abnormality, Microdontia, Hip dislo...	ORPHA:2322
Jacobsen Syndrome	Nasolacrimal duct obstruction, Optic atrophy, Epicanthus, Micrognathia, Missing ribs, Short nose,...	OMIM:147791
Syndromic Diarrhea	Patent ductus arteriosus, Hypothyroidism, Hypoplasia of the thymus, Ventricular septal defect, Vi...	ORPHA:84064
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Small for gestational age, Continuous spike and waves during slow sleep, EEG with centrotemporal ...	OMIM:245570
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Brachycephaly, Delayed closure of the anterior fontanelle, Conductive he...	OMIM:607872
Congenital Alveolar Capillary Dysplasia	Patent ductus arteriosus, Absent gallbladder, Asplenia, Atrioventricular canal defect, Pulmonary ...	ORPHA:210122
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Microdontia, Short distal phalanx of toe, Short nose, Delayed eruption of permanent...	OMIM:619356
Congenital Total Pulmonary Venous Return Anomaly	Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Cardiac total anomalous ...	ORPHA:99125
Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory insufficiency, Patellar dislocation, Micrognathia, Elbow flexion contracture, Optic n...	ORPHA:536471
Non-Syndromic Genetic Deafness	Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine...	ORPHA:87884
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Flexion contracture, Microdontia, Micrognathia, Elbow flexion contracture, Short neck, Gingival o...	OMIM:300868
Malan Syndrome	Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Midface retrusion, Hyperplasia o...	OMIM:614753
Myopia 27, Autosomal Dominant	Increased axial length of the globe	OMIM:618827
Orofaciodigital Syndrome Xiv	Patent ductus arteriosus, Lobulated tongue, Bifid tongue, Ventricular septal defect, Natal tooth,...	OMIM:615948
Hypertelorism-Microtia-Facial Clefting Syndrome	Conductive hearing impairment, Microtia, Bifid nose, Median cleft lip and palate, Bifid nasal tip...	ORPHA:2213
Noonan Syndrome 3	Patent ductus arteriosus, Patent foramen ovale, High palate, Webbed neck, Ventricular septal defe...	OMIM:609942
Cornelia De Lange Syndrome	Brachycephaly, Conductive hearing impairment, Delayed eruption of teeth, Micrognathia, Synophrys,...	ORPHA:199
Osteopetrosis With Renal Tubular Acidosis	Pulmonary arterial hypertension, Retrognathia, Brachycephaly, Conductive hearing impairment, Prom...	ORPHA:2785
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Narrow mouth, Anteverted nares	ORPHA:1355
Paganini-Miozzo Syndrome	Downslanted palpebral fissures, Mandibular prognathia, Microtia, Triangular face, Downturned corn...	OMIM:301025
Primary Pulmonary Hypoplasia	Pneumothorax, Abnormal breath sound, Patellar hypoplasia, Epicanthus, Asthma, Micrognathia, Hypox...	ORPHA:2257
Fanconi Anemia	Abnormal testis morphology, Abnormal carotid artery morphology, Abnormal cardiac septum morpholog...	ORPHA:84
Hyperparathyroidism, Transient Neonatal	Brachycephaly, Short nasal bridge, Wide nasal bridge, Short ribs, Respiratory distress, Short fem...	OMIM:618188
Arterial Tortuosity Syndrome	Aortic tortuosity, Aortic root aneurysm, Ventricular hypertrophy, Macrotia, High palate, Ischemic...	OMIM:208050
Congenital Heart Defects And Skeletal Malformations Syndrome	Narrow maxilla, Upslanted palpebral fissure, Medial flaring of the eyebrow, High palate, Repeated...	OMIM:617602
3Q29 Microdeletion Syndrome	Patent ductus arteriosus, Subvalvular aortic stenosis, Pulmonary arterial hypertension, Macrotia,...	ORPHA:65286
Cerebrofaciothoracic Dysplasia	Brachycephaly, Wide nose, Downslanted palpebral fissures, Cleft upper lip, Wide mouth, Epicanthus...	ORPHA:1394
Peho Syndrome	Retrognathia, Optic atrophy, Epicanthus, Hypsarrhythmia, Short nose, Tented upper lip vermilion, ...	OMIM:260565
Eec Syndrome	Hypoplasia of the thymus, Decreased response to growth hormone stimulation test, Sensorineural he...	ORPHA:1896
Neurodevelopmental Disorder With Spasticity And Poor Growth	Patent ductus arteriosus, Patent foramen ovale, Knee flexion contracture, Limb hypertonia, Microt...	OMIM:618076
Cole-Carpenter Syndrome 2	Dentinogenesis imperfecta, Downslanted palpebral fissures, High palate, Turricephaly, Coronal cra...	OMIM:616294
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Midface retrusion	ORPHA:1540
Marbach-Rustad Progeroid Syndrome	Eruption failure, Convex nasal ridge, Delayed eruption of primary teeth, Micrognathia, Hypodontia...	OMIM:619322
Melnick-Needles Syndrome	Respiratory insufficiency, Delayed cranial suture closure, Delayed eruption of teeth, Micrognathi...	ORPHA:2484
Microphthalmia, Syndromic 6	Brachycephaly, Plagiocephaly, Micrognathia, Bifid uvula, Midface retrusion, Cleft palate, Uplifte...	OMIM:607932
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Micrognathia, Cleft upper lip, Conductive hearing impairment, Cleft palate	OMIM:601076
Omodysplasia 2	Rhizomelic arm shortening, Long philtrum, Wide nasal bridge, Short 1st metacarpal, Bilateral clef...	OMIM:164745
Bartter Syndrome, Type 2, Antenatal	Abnormally large globe, Macrotia, Small for gestational age, Frontal bossing, Triangular face, Fa...	OMIM:241200
Developmental And Epileptic Encephalopathy 80	Overfolded helix, High palate, Long philtrum, Wide mouth, Low-set ears, Death in infancy, Microgn...	OMIM:618580
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Abnormal left ventricular outflow tract morphology, ...	ORPHA:402075
Pfeiffer Syndrome Type 2	High palate, Short foot, Small hand, Choanal atresia, Respiratory distress, Short nose, Cloverlea...	ORPHA:93259
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Pericardial effusion, Patent urachus, Unilateral cryptorchidism, Biventri...	OMIM:618280
Alg3-Cdg	Coarctation of the descending aortic arch, Neural tube defect, Cardiomyopathy	ORPHA:79321
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl...	OMIM:300400
Keipert Syndrome	Hypoplasia of the maxilla, Sensorineural hearing impairment	ORPHA:2662
8P Inverted Duplication/Deletion Syndrome	Retrognathia, Macrotia, Precocious puberty, Long philtrum, Wide mouth, Aplasia/Hypoplasia of the ...	ORPHA:96092
Trichothiodystrophy 1, Photosensitive	Retrognathia, Macrotia, Asthma, Small for gestational age, Keratoconjunctivitis sicca, Short nose...	OMIM:601675
Beck-Fahrner Syndrome	Brachycephaly, Lacrimal duct stenosis, High palate, Long philtrum, EEG abnormality, Ptosis, Open ...	OMIM:618798
Gabriele-De Vries Syndrome	Patent foramen ovale, Distal arthrogryposis, Pierre-Robin sequence, High palate, Thick lower lip ...	OMIM:617557
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly, Enlarged interphalangeal joints, Ptosis, Epicanthus inversus, Upslanted palpebral ...	ORPHA:2988
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Sensorineural hearing impairment	OMIM:608154
Left Ventricular Noncompaction 1	Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ...	OMIM:604169
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa...	ORPHA:320401
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Low-set ears, Depressed nasal bridge, Craniosynostosis, Short nose	OMIM:614732
Otopalatodigital Syndrome, Type Ii	Respiratory insufficiency, Delayed closure of the anterior fontanelle, Conductive hearing impairm...	OMIM:304120
Pallister-Hall-Like Syndrome	Short ribs, Micrognathia, Hip dislocation, Short nose, Median cleft lip, Depressed nasal bridge, ...	OMIM:241800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal antihelix morphology, Brachycephaly, Conductive hearing impairment, Humeroradial synosto...	ORPHA:95699
Tarp Syndrome	Abnormal antihelix morphology, Small earlobe, Pierre-Robin sequence, Optic atrophy, Tongue nodule...	ORPHA:2886
Cranioectodermal Dysplasia 2	Microdontia, Micrognathia, Midface retrusion, Everted lower lip vermilion, Short neck, Smooth phi...	OMIM:613610
Klippel-Trénaunay Syndrome	Patent ductus arteriosus, Respiratory insufficiency, Pulmonary embolism, Abnormality of the pulmo...	ORPHA:90308
Intellectual Developmental Disorder, X-Linked 98	Underdeveloped nasal alae, Downslanted palpebral fissures, Macrotia, Mandibular prognathia, Hypsa...	OMIM:300912
Neurodegeneration With Brain Iron Accumulation 2A	Optic atrophy, Micrognathia, Frontal bossing, Short nose, Decreased nerve conduction velocity, He...	OMIM:256600
Cleidocranial Dysplasia 2	Genu valgum, Aplastic clavicle, Delayed eruption of primary teeth, Wide anterior fontanel, Plagio...	OMIM:620099
Kleefstra Syndrome Due To 9Q34 Microdeletion	Brachycephaly, Synophrys, Midface retrusion, Macroglossia, Short nose, Everted lower lip vermilio...	ORPHA:96147
Cohen Syndrome	Leukopenia, Decreased response to growth hormone stimulation test, Macrodontia of permanent maxil...	OMIM:216550
Zttk Syndrome	Patent ductus arteriosus, Absent gallbladder, Flexion contracture, High palate, Ventricular septa...	OMIM:617140
Spondyloenchondrodysplasia	Dental malocclusion, Juvenile rheumatoid arthritis, Delayed eruption of teeth, Arthritis, Midface...	ORPHA:1855
Warsaw Breakage Syndrome	High palate, Ventricular septal defect, Wide mouth, Hypoplasia of the cochlea, Cupped ear, Tetral...	OMIM:613398
Degcags Syndrome	Plagiocephaly, Micrognathia, Synophrys, Tracheomalacia, Abnormal eyelash morphology, Smooth philt...	OMIM:619488
Ventricular Septal Defect 3	Patent ductus arteriosus, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect	OMIM:614432
Deafness, Autosomal Dominant 23	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:605192
Spondylocarpotarsal Synostosis Syndrome	Enamel hypoplasia, Vertebral fusion, C2-C3 subluxation, Sensorineural hearing impairment, Capitat...	OMIM:272460
Fibrochondrogenesis	Respiratory insufficiency, Camptodactyly of finger, Hearing abnormality, Downslanted palpebral fi...	ORPHA:2021
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta, Upper limb undergrowth, Dolichocephaly, Concave nasal ridge, Short foo...	ORPHA:166277
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortic root aneurysm, Short chin, Pulmonary arterial hypertension, Webbed neck, Aortopulmonary wi...	OMIM:620025
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Patent ductus arteriosus, Elliptocytosis, Abnormal aortic valve morphology, Supernumerary tooth, ...	ORPHA:86818
Frias Syndrome	Downslanted palpebral fissures, Micrognathia, Ptosis, Cupped ear, Posteriorly rotated ears	OMIM:609640
Chronic Intestinal Pseudoobstruction	Patent ductus arteriosus, Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology...	ORPHA:2978
Metaphyseal Acroscyphodysplasia	Genu varum, Short toe, Thickened calvaria, Flat face, Wide nasal bridge, Short metacarpal, Epican...	OMIM:250215
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Respiratory insufficiency, Hypothyroidism, Microdontia, Micrognathia, Smooth philtrum, Thrombocyt...	OMIM:620005
Robin Sequence-Oligodactyly Syndrome	Cleft palate, Micrognathia, Glossoptosis, Abnormality of the dentition	ORPHA:3104
Myofibrillar Myopathy 11	Increased variability in muscle fiber diameter, Z-band streaming, Centrally nucleated skeletal mu...	OMIM:619178
Mucopolysaccharidosis Type 3	Conductive hearing impairment, Flexion contracture, Optic atrophy, Abnormality of the middle ear ...	ORPHA:581
Helsmoortel-Van Der Aa Syndrome	Wide nasal bridge, Epicanthus, Microdontia, Midface retrusion, Everted lower lip vermilion, Thin ...	OMIM:615873
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Downslanted palpebral fissures, High palate, Long philtrum, Epicanthus, Short philtrum, Short nos...	OMIM:614105
Partial Deletion Of The Short Arm Of Chromosome 7	Retrognathia, Patent ductus arteriosus after birth at term, Broad neck, Bilateral cryptorchidism,...	ORPHA:261911
Mgat2-Cdg	Patent ductus arteriosus, Ventricular septal defect, Respiratory distress, Prominent antihelix, A...	ORPHA:79329
Humeroradial Synostosis With Craniofacial Anomalies	Small earlobe, Brachycephaly, Plagiocephaly, Humeroradial synostosis, Microtia, Wide nasal bridge...	OMIM:236410
Pontocerebellar Hypoplasia, Type 17	Patent ductus arteriosus, Respiratory insufficiency, Ventricular septal defect, Limb hypertonia, ...	OMIM:619909
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Cleft soft palate, Microtia, Micrognat...	ORPHA:2282
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	High palate, Optic atrophy, Epicanthus, Wide mouth, Short nose, Thin upper lip vermilion, Depress...	OMIM:618590
Intellectual Developmental Disorder, Autosomal Dominant 29	Wide nose, Brachycephaly, Short palpebral fissure, Downslanted palpebral fissures, Narrow palate,...	OMIM:616078
Dubowitz Syndrome	Respiratory insufficiency, Delayed cranial suture closure, Abnormal antihelix morphology, Delayed...	ORPHA:235
Atrial Septal Defect 2	Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal...	OMIM:607941
Micro Syndrome	Macrotia, High palate, Wide nasal bridge, Optic atrophy, Micrognathia, Short philtrum, Short nose...	ORPHA:2510
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, High palate, Macrotia, Flexion contracture, Distal lower limb amyotrophy, ...	OMIM:300534
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Ascending tubular aorta aneurysm, Micrognathia, Bifid uvula, Camptodactyly,...	OMIM:610168
Axenfeld-Rieger Syndrome, Type 3	Patent ductus arteriosus, Sensorineural hearing impairment, Hypodontia, Microdontia, Midface retr...	OMIM:602482
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental malocclusion, Talon cusp, Conductive hearing impairment, Sensorineural hearing impairment,...	ORPHA:353281
Chromosome 18P Deletion Syndrome	Macrotia, High palate, Depressed nasal ridge, Wide nasal bridge, Epicanthus, Small for gestationa...	OMIM:146390
Pericardial And Diaphragmatic Defect	Patent ductus arteriosus, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absence o...	ORPHA:2847
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Delayed cranial suture closure, Midface retrusion, Macroglossia, Short nose, Frontal bossing, Fai...	OMIM:613038
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, High palate, Plagiocephaly, Failure to thrive, Cleft palate, Tooth malposition	OMIM:618603
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Wide nasal bridge, Epicanthus, A...	ORPHA:466943
Autosomal Recessive Cutis Laxa Type 2A	Delayed cranial suture closure, Downslanted palpebral fissures, Wide anterior fontanel, Long phil...	ORPHA:357058
8Q21.11 Microdeletion Syndrome	Camptodactyly of finger, Underdeveloped nasal alae, Wide nose, Downslanted palpebral fissures, Hi...	ORPHA:284160
Neurocardiofaciodigital Syndrome	Patent ductus arteriosus, Retrognathia, High palate, Optic disc pallor, Atrial septal defect, Dou...	OMIM:619869
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Patent ductus arteriosus, Atrioventricular canal defect, Hypodontia, Supernumerary tooth, Aplasia...	OMIM:617088
Developmental And Epileptic Encephalopathy 89	Downslanted palpebral fissures, Sparse eyebrow, Flat face, Long philtrum, Wide nasal bridge, EEG ...	OMIM:619124
10Q22.3Q23.3 Microdeletion Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Breast aplasia, Microretrognathia, Intes...	ORPHA:276413
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Brachycephaly, Plagiocephaly, Optic atrophy, EEG abnormality, Dolichocep...	ORPHA:272
Spondyloepiphyseal Dysplasia, Nishimura Type	Small hand, Midface retrusion, Short nose, Inspiratory stridor, Osteoarthritis	OMIM:618618
Ciliary Dyskinesia, Primary, 1	Conductive hearing impairment, Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinu...	OMIM:244400
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, High palate, Ventricular septal defect, Death in infancy, Thyroid lymphangiectasia,...	OMIM:235255
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Microdontia, Hypodontia, Short philtrum, Everted lower lip vermilion, Hypo...	OMIM:601499
Rhiny	Thin vermilion border, Anteverted nares, Short nose	OMIM:180360
Fibrochondrogenesis 2	Short ribs, Micrognathia, Midface retrusion, Short nose, Frontal bossing, Anteverted nares, Malar...	OMIM:614524
Hutchinson-Gilford Progeria Syndrome	Conductive hearing impairment, Convex nasal ridge, Narrow nasal tip, Delayed eruption of teeth, S...	ORPHA:740
Seckel Syndrome	Downslanted palpebral fissures, Convex nasal ridge, Absent earlobe, Micrognathia, Cachexia, Tooth...	ORPHA:808
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Lobulated tongue, Bifid tongue, Webbed neck, Ventricular septal defect,...	ORPHA:434179
Blomstrand Lethal Chondrodysplasia	Aplastic clavicle, Rhizomelia, Natal tooth, Short ribs, Short metacarpal, Micrognathia, Long phil...	ORPHA:50945
Fanconi Anemia, Complementation Group I	Absent thumb, Conductive hearing impairment, Decreased body weight, Short 1st metacarpal, Hypopla...	OMIM:609053
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Ventric...	ORPHA:141127
Wiedemann-Steiner Syndrome	Short palpebral fissure, Flat face, High palate, Abnormality of the elbow, Wide nasal bridge, Rhi...	ORPHA:319182
3M Syndrome	Abnormality of the elbow, Long philtrum, Delayed eruption of teeth, Midface retrusion, Dolichocep...	ORPHA:2616
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Wide nasal bridge, Epicanthus, Smooth philtrum, Uplifted earlobe, ...	OMIM:613406
Carey-Fineman-Ziter Syndrome 1	Retrognathia, Respiratory insufficiency, Pulmonary arterial hypertension, Flexion contracture, Pi...	OMIM:254940
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Mandibular aplasia, Narrow internal auditory canal, Respiratory distress, Synotia, Narrow mouth, ...	ORPHA:990
Monosomy 13Q34	Downslanted palpebral fissures, Horizontal eyebrow, Prominent nose, Epicanthus, Micrognathia, Epi...	ORPHA:96168
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Long philtrum, Cachexia, Microretrognathia, Short nose, Abnormal palate morphology	ORPHA:1389
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Low-set ears, Cupped ear	OMIM:167730
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Widely spaced teeth, Advanced eruption of teeth, Short nose, Broad columella, Failure to thrive, ...	OMIM:617865
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly, Prominent nose, High palate, Long philtrum, Broad eyebrow, Short philtrum, Thin up...	OMIM:619244
Immunodeficiency 42	Recurrent aphthous stomatitis, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Familial Expansile Osteolysis	Conductive hearing impairment, Fragile teeth, Premature loss of teeth	OMIM:174810
Floating-Harbor Syndrome	Conductive hearing impairment, Short middle phalanx of the 2nd finger, Microdontia, Dislocated ra...	OMIM:136140
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	High palate, Short femoral neck, Optic disc pallor, Hypoplasia of the odontoid process, Short fin...	OMIM:300232
Bartsocas-Papas Syndrome 1	Absent thumb, Micrognathia, Limb undergrowth, Cleft palate, Cupped ear, Blepharophimosis, Pterygi...	OMIM:263650
Burn-Mckeown Syndrome	Short palpebral fissure, Wide nasal bridge, Short nose, Bilateral choanal atresia, Abnormal palat...	ORPHA:1200
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Depressed nasal ridge, Rhizomelia, Distal shortening of limbs, Short nose, Fron...	OMIM:300863
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Brachycephaly, Wide nasal bridge, Epicanthus, Thin vermilion border, Optic disc coloboma, Short p...	OMIM:617157
Johanson-Blizzard Syndrome	Underdeveloped nasal alae, Abnormal nostril morphology, Sensorineural hearing impairment, Absent ...	ORPHA:2315
Meckel Syndrome, Type 8	Cleft upper lip, Anophthalmia, Depressed nasal ridge, Short nose, Microphthalmia, Low-set ears, C...	OMIM:613885
Fetal Akinesia Deformation Sequence	Respiratory insufficiency, Camptodactyly of finger, Micrognathia, Pterygium, Depressed nasal brid...	ORPHA:994
Dend Syndrome	Long philtrum, Bilateral ptosis, Thickened ears, Hypsarrhythmia, Short nose, Downturned corners o...	ORPHA:79134
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Downslanted palpebral fissures, High palate, Wide anterior fontanel, Th...	ORPHA:85184
Short Syndrome	Abnormal mandible morphology, Sensorineural hearing impairment, Weight loss, Wide nasal bridge, A...	ORPHA:3163
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Plagiocephaly, Short metacarpal, Optic atrophy, Deep philtrum, Synophrys, Microdontia...	OMIM:605282
Native American Myopathy	Respiratory insufficiency, Downslanted palpebral fissures, Conductive hearing impairment, High pa...	ORPHA:168572
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic root aneurysm, Aortic atherosclerotic lesion, Ventricular hypertrophy, Intracranial hemorr...	ORPHA:363618
Weaver Syndrome	Patent ductus arteriosus, Retrognathia, Mandibular prognathia, Macrotia, Long philtrum, Joint con...	OMIM:277590
Faciocardiomelic Syndrome	Dental malocclusion, Long philtrum, Wide mouth, Micrognathia, Hyperplasia of the maxilla, Large f...	OMIM:612731
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Micrognathia	OMIM:166300
Ehlers-Danlos Syndrome, Classic Type, 1	Aortic root aneurysm, Mitral valve prolapse, Umbilical hernia	OMIM:130000
Jaberi-Elahi Syndrome	Sparse eyebrow, Optic atrophy, Choreoathetosis, Short nose, Failure to thrive, Depressed nasal br...	OMIM:617988
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Ossifying fibroma of the jaw, Epicanthus, Short fourth metatarsal, Limited elbow extension, Short...	ORPHA:457395
Gapo Syndrome	Mandibular prognathia, Long philtrum, Optic atrophy, Delayed eruption of teeth, Abnormal cerebral...	ORPHA:2067
Microcephaly-Micromelia Syndrome	Wide nose, Short tibia, Absent thumb, Convex nasal ridge, Short palpebral fissure, Humeroradial s...	OMIM:251230
Menke-Hennekam Syndrome 2	Short palpebral fissure, Flat face, Deep philtrum, Epicanthus, Blepharophimosis, Micrognathia, Ag...	OMIM:618333
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect, Anotia, Microtia, Micrognathia, Cleft palate	OMIM:243440
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal antihelix morphology, Vertebral fusion, Mandibular prognathia, Plagiocephaly, Patellar d...	ORPHA:2916
Encephalocraniocutaneous Lipomatosis	Pulmonary arterial hypertension, Abnormal aortic morphology, Interrupted aortic arch, Craniofacia...	ORPHA:2396
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Patent ductus arteriosus	ORPHA:1952
Coffin-Siris Syndrome 12	Delayed cranial suture closure, Hip subluxation, Epicanthus, Micrognathia, Prominent nasal tip, S...	OMIM:619325
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aplasia of the 1st metacarpal, Eruption failure, Unilateral radial aplasia, High palate, Long phi...	ORPHA:476126
3Q27.3 Microdeletion Syndrome	Small earlobe, Downslanted palpebral fissures, Mandibular prognathia, Convex nasal ridge, Dental ...	ORPHA:397695
Robinow-Sorauf Syndrome	Downslanted palpebral fissures, Flat face, Plagiocephaly, Pansynostosis, Bilateral ptosis, Narrow...	OMIM:180750
Meier-Gorlin Syndrome 3	Micrognathia, Absent sternal ossification, Posteriorly rotated ears, Aplasia/Hypoplasia of the pa...	OMIM:613803
Neurotrophic Keratopathy	Diabetes mellitus, Abnormal fifth cranial nerve morphology	ORPHA:137596
Atelosteogenesis, Type Iii	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Midface retrusion	OMIM:108721
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Brachycephaly, Sensorineural hearing impairment, Joint contracture of the hand, EEG abnormality, ...	ORPHA:456312
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, W...	OMIM:614450
Stickler Syndrome	Epicanthus, Micrognathia, Cachexia, Hip dislocation, Midface retrusion, Tooth agenesis, Slender b...	ORPHA:828
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Cleft upper lip, Webbed neck, Ventricular septal defect, Micrognathia, ...	OMIM:153400
Meier-Gorlin Syndrome 5	Small earlobe, Patellar aplasia, Long philtrum, Microtia, Micrognathia, Submucous cleft hard pala...	OMIM:613805
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Vascular dilatation, Decreased muscle mass, Muscle fiber atrophy, Wrist drop, Mitral valve prolap...	ORPHA:1900
Holoprosencephaly 14	Double outlet right ventricle, Aortic valve atresia, Macrotia, Ventricular septal defect, Median ...	OMIM:619895
Omodysplasia 1	Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Wide nasal br...	OMIM:258315
Loeys-Dietz Syndrome 1	Aortic root aneurysm, Patent ductus arteriosus, Retrognathia, Pulmonary artery aneurysm, Dilatati...	OMIM:609192
Mosaic Trisomy 1	Short upper lip, Camptodactyly of finger, Ventricular septal defect, Wide mouth, Thick lower lip ...	ORPHA:1692
Coffin-Siris Syndrome 4	Patent ductus arteriosus, Mitral atresia, Everted upper lip vermilion, Long philtrum, Wide mouth,...	OMIM:614609
Acromelic Frontonasal Dysostosis	Short tibia, Brachycephaly, Parietal foramina, Downslanted palpebral fissures, Patellar hypoplasi...	OMIM:603671
D-Bifunctional Protein Deficiency	Delayed cranial suture closure, Retrognathia, Scaphocephaly, High palate, Long philtrum, Epicanth...	OMIM:261515
Fetal Valproate Spectrum Disorder	Long philtrum, Depressed nasal ridge, Epicanthus, Short nose, Downturned corners of mouth, Narrow...	ORPHA:1906
Miller-Dieker Syndrome	EEG abnormality, Epicanthus, Abnormal upper lip morphology, Short nose, Anteverted nares	ORPHA:531
Coffin-Siris Syndrome	Patent ductus arteriosus, Aspiration pneumonia, Ventricular septal defect, Wide mouth, Delayed er...	ORPHA:1465
Smith-Lemli-Opitz Syndrome	Atrioventricular canal defect, Bifid tongue, Optic atrophy, Micrognathia, Short neck, Tooth agene...	ORPHA:818
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Congenital Disorder Of Glycosylation, Type It	Pulmonary arterial hypertension, Cardiomegaly, Pierre-Robin sequence, Ventricular septal defect, ...	OMIM:614921
Thanatophoric Dysplasia Type 1	Patent ductus arteriosus, Respiratory insufficiency, Wide anterior fontanel, Atrial septal defect...	ORPHA:1860
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Patent ductus arteriosus, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Short chin...	OMIM:616501
Schilbach-Rott Syndrome	Prominent nose, Microtia, Epicanthus, Micrognathia, Blepharophimosis, Bifid uvula, Submucous clef...	OMIM:164220
Fanconi Anemia, Complementation Group F	Patent ductus arteriosus, Leukopenia, Anemia, Conductive hearing impairment, Decreased response t...	OMIM:603467
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Macrotia, High palate, Long philtrum, Low-set ears, Flexion contracture, Limb hypertonia, Hypopla...	ORPHA:481152
Encephalopathy Due To Sulfite Oxidase Deficiency	Thick vermilion border, Abnormal pattern of respiration, Long philtrum, Short nose	ORPHA:833
Aneurysm Of Sinus Of Valsalva	Stroke, Bacterial endocarditis, Dilatation of the sinus of Valsalva	ORPHA:1054
Atelosteogenesis, Type I	Vertebral hypoplasia, Micrognathia, Midface retrusion, Elbow dislocation, Short femur, Limb under...	OMIM:108720
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Downslanted palpebral fissures, High palate, Long philtrum, Abnormal auditory evoked potentials, ...	OMIM:617523
Pycnodysostosis	Prominent nose, Delayed eruption of primary teeth, Aplastic clavicle, Narrow palate, Micrognathia...	OMIM:265800
Dyssegmental Dysplasia, Silverman-Handmaker Type	Respiratory insufficiency, Flat face, Wide nasal bridge, Short ribs, Micrognathia, Pterygium, Lim...	ORPHA:1865
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Patent ductus arteriosus, Aortic rupture, Conductive hearing impairment, Cleft soft palate, Type ...	OMIM:614557
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Cleft palate, Short palm, Short palpebral fissure, Blepharophimosis, Triangular fac...	OMIM:170390
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism, Mandibular prognathia, Macrotia, Contractures of the large joints, Abnormal atrio...	ORPHA:324410
Deeah Syndrome	Retrognathia, Short palpebral fissure, Decreased body weight, Narrow palate, EEG abnormality, Epi...	OMIM:619004
Holoprosencephaly-Craniosynostosis Syndrome	Brachycephaly, Short palpebral fissure, Plagiocephaly, Epicanthus, Hypoplastic vertebral bodies, ...	ORPHA:2163
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Patent ductus arteriosus	OMIM:615147
1P36 Deletion Syndrome	Camptodactyly of finger, Hypothyroidism, Aortic arch aneurysm, Conductive hearing impairment, Abn...	ORPHA:1606
Alagille Syndrome 2	Tetralogy of Fallot, Atrial septal defect, Pulmonic stenosis, Peripheral pulmonary artery stenosis	OMIM:610205
Pfeiffer Syndrome Type 3	High palate, Low-set ears, Small hand, Brachyturricephaly, Midface retrusion, Respiratory distres...	ORPHA:93260
Mowat-Wilson Syndrome	Delayed eruption of teeth, Supernumerary nipple, Pulmonary artery sling, Pulmonary artery stenosi...	OMIM:235730
Intellectual Developmental Disorder, Autosomal Dominant 53	Brachycephaly, Downslanted palpebral fissures, Genu valgum, EEG abnormality, Microtia, Epicanthus...	OMIM:617798
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Sensorineural hearing impairment, Rhizomelia, Micrognathia, Midface retrusion, Short femur, Front...	ORPHA:440354
Arthrogryposis And Ectodermal Dysplasia	Brachycephaly, Cleft upper lip, Entropion, Joint contracture of the hand, Blepharophimosis, Oligo...	OMIM:601701
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Retrognathia, Downslanted palpebral fissures, Macrotia, Long philtrum, Deep philtrum, Epicanthus,...	OMIM:613563
Gm1-Gangliosidosis, Type Ii	Patent ductus arteriosus, Sea-blue histiocytosis, Optic atrophy, Narrow mouth, Protruding tongue,...	OMIM:230600
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Patent ductus arteriosus, Narrow palate, Long philtrum, Thick lower lip vermilion, Micrognathia, ...	ORPHA:555877
Nicolaides-Baraitser Syndrome	Short lingual frenulum, Everted lower lip vermilion, Smooth philtrum, Enlarged joints, Posteriorl...	OMIM:601358
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Micrognathia, Frontal bossing, Microphthalmia, Shallow orbits, Posteriorly rotated ears	OMIM:617306
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Underdeveloped nasal alae, Downslanted palpebral fissures, Sparse eyebrow, Macrotia, Short metaca...	OMIM:250410
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Patent ductus arteriosus, Leukopenia, Anemia, Patent foramen ovale, Flexion contracture, Pulmonar...	ORPHA:505248
Prader-Willi Syndrome Due To Translocation	Micrognathia, Bifid uvula, Everted lower lip vermilion, Short neck, Alveolar ridge overgrowth, Cl...	ORPHA:177907
Ivic Syndrome	Patent ductus arteriosus, Anal atresia, Intestinal malrotation, Hypoplasia of deltoid muscle, Tet...	OMIM:147750
Meier-Gorlin Syndrome 1	Micrognathia, Osteochondritis dissecans, Microdontia, Elbow dislocation, Absent sternal ossificat...	OMIM:224690
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed cranial suture closure, High palate, Narrow nasal ridge, Micrognathia, Short nose, Narrow...	OMIM:608612
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Plagiocephaly, Hip dislocation, Elbow dislocation, Knee dislocation, Radial head subluxation, Ble...	OMIM:620083
Sarcoidosis, Susceptibility To, 1	Pulmonary arterial hypertension, Bronchiectasis, Pericardial effusion, Hypoxemia, Generalized lym...	OMIM:181000
Van Der Woude Syndrome	Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Aica-Ribosiduria	Brachycephaly, Low-set ears, Thin upper lip vermilion, Wide mouth	ORPHA:250977
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly, Wide anterior fontanel, Long philtrum, Micrognathia, Ptosis, Thin upper lip vermil...	OMIM:618548
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Cleft upper lip, Conductive hearing impairment, Decreased response to growth hormone stimulation ...	OMIM:129900
Warburg Micro Syndrome 4	Brachycephaly, Long philtrum, Optic atrophy, Decreased motor nerve conduction velocity, Ptosis, N...	OMIM:615663
Peters Plus Syndrome	Conductive hearing impairment, Optic atrophy, Abnormal cardiac septum morphology, Anterior hypopi...	ORPHA:709
Phace Syndrome	Aortic root aneurysm, Abnormal cerebral artery morphology, Abnormal cardiac septum morphology, Ab...	ORPHA:42775
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Brachycephaly, Aspiration pneumonia, Plagiocephaly, Postural tremor, Delayed eruption of teeth, W...	OMIM:301072
Phosphoribosylpyrophosphate Synthetase Superactivity	Downslanted palpebral fissures, Convex nasal ridge, Sensorineural hearing impairment, High palate...	OMIM:300661
Al-Raqad Syndrome	Flat face, Short nose, Thin upper lip vermilion, Narrow mouth, Low-set ears	OMIM:616459
Tolchin-Le Caignec Syndrome	Short palpebral fissure, Oxycephaly, Hooded eyelid, Macrotia, Sensorineural hearing impairment, P...	OMIM:618971
Schinzel-Giedion Midface Retraction Syndrome	Short sternum, Hypoplasia of first ribs, Metopic suture patent to nasal root, Choanal stenosis, S...	OMIM:269150
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment	OMIM:601455
Intellectual Developmental Disorder, Autosomal Dominant 68	Patent ductus arteriosus, Retrognathia, High palate, Wide mouth, Full cheeks, Joint contracture o...	OMIM:619934
Cockayne Syndrome	Enamel hypoplasia, Dental malocclusion, Convex nasal ridge, Abnormal number of teeth, Delayed eru...	ORPHA:191
Juvenile Sialidosis Type 2	Optic atrophy, Hepatosplenomegaly, Protruding tongue, Abnormal heart morphology, Umbilical hernia...	ORPHA:93399
Immunodeficiency 49	Short palpebral fissure, Natal tooth, Micrognathia, Short philtrum, Wormian bones, Upslanted palp...	OMIM:617237
Distal Monosomy 19P13.3	Pulmonary valve atresia, Conductive hearing impairment, Sensorineural hearing impairment, Ventric...	ORPHA:96129
Trisomy 8Q	Camptodactyly of finger, Non-midline cleft lip, Bifid tongue, High palate, Myelomeningocele, Dimp...	ORPHA:1752
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Macrotia, Aspiration pneumonia, Long philtrum, Gingival overgrowth,...	ORPHA:79255
Mandibuloacral Dysplasia Progeroid Syndrome	Delayed cranial suture closure, Underdeveloped nasal alae, Genu valgum, Brachycephaly, Sparse eye...	OMIM:619127
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Leukopenia, Abnormality of the neck, Oral ulcer, Anemia, Neutrope...	ORPHA:50918
Orofaciodigital Syndrome Type 5	Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p...	ORPHA:2919
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Mandibular aplasia, Microtia, third degree, Micrognathia, Bifid uvula, E...	ORPHA:2554
20Q13.33 Microdeletion Syndrome	Abnormal cardiac ventricle morphology, Hypoplastic aortic arch, Atrial septal defect, Dilation of...	ORPHA:261311
46,Xy Sex Reversal 4	Distal symphalangism, Sensorineural hearing impairment, Prominent nose, Depressed nasal ridge, Mi...	OMIM:154230
Monosomy 22	Retrognathia, Contractures of the large joints, High palate, Long philtrum, Schwannoma, Hepatospl...	ORPHA:96123
Chromosome 8Q21.11 Deletion Syndrome	Underdeveloped nasal alae, Short palpebral fissure, Downslanted palpebral fissures, Sensorineural...	OMIM:614230
Focal Dermal Hypoplasia	Short 4th metacarpal, Optic atrophy, Delayed eruption of teeth, Cleft palate, Anophthalmia, Short...	OMIM:305600
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Retrognathia, Hypothyroidism, High palate, Atrial septal defect, Neutro...	OMIM:618005
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Optic atrophy, Micrognathia, Short nose, Optic nerve hypoplasia, Upslanted...	ORPHA:496790
Cleft Palate, Deafness, And Oligodontia	Bilateral conductive hearing impairment, Cleft soft palate, Oligodontia of primary teeth, No perm...	OMIM:216300
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Female hypogonadism, Enamel hypoplasia, Tympanosclerosis, Atrophic gastritis, Asplenia, Hypothyro...	OMIM:240300
Chilton-Okur-Chung Neurodevelopmental Syndrome	Micrognathia, Smooth philtrum, Uplifted earlobe, Cystic hygroma, Patent foramen ovale, Agenesis o...	OMIM:619841
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, High palate, Mitral valve prolapse, Absent nipple, Low-set ears, Umbili...	OMIM:104350
Humeroradial Synostosis	Small earlobe, Brachycephaly, Wide nasal bridge, Humeroradial synostosis, Microtia	OMIM:236400
Vertebral Hypersegmentation And Orofacial Anomalies	Epicanthus, Micrognathia, Midface retrusion, Darwin tubercle of helix, Prominent occiput, Submuco...	OMIM:619122
Silver-Russell Syndrome	Delayed cranial suture closure, Micrognathia, Cachexia, Dental crowding, Triangular face, Downtur...	ORPHA:813
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Limb undergrowth, Conductive hearing impairment, Depressed nasal ridge	ORPHA:1861
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Midface retrusion, Hearing impairment	ORPHA:782
Hardikar Syndrome	Cleft soft palate, Hepatosplenomegaly, Celiac disease, Pulmonary artery stenosis, Thrombocytopeni...	OMIM:301068
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Midface retrusion	OMIM:619142
Osteogenesis Imperfecta, Type Xi	Brachycephaly, Dentinogenesis imperfecta, Protrusio acetabuli, Triangular face, Abnormality of th...	OMIM:610968
Beckwith-Wiedemann Syndrome	Hypothyroidism, Large intestinal polyposis, Midface retrusion, Hypertrophic cardiomyopathy, Poste...	ORPHA:116
Cerebrocostomandibular Syndrome	Meningocele, Conductive hearing impairment, Myelomeningocele, Webbed neck, Ventricular septal def...	ORPHA:1393
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly, Short lingual frenulum, Bifid nose, Short philtrum, Widely-spaced maxillary centra...	OMIM:608980
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Patent ductus arteriosus, Ventricular septal defect, Coronary artery fistula, Atrial septal defec...	OMIM:620024
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Respiratory insufficiency, Flat face, Long philtrum, Wide nasal bridge, Small for gestational age...	OMIM:614052
Waardenburg Syndrome	Underdeveloped nasal alae, Conductive hearing impairment, Abnormal eyebrow morphology, Wide nasal...	ORPHA:3440
Arthrogryposis Multiplex Congenita 5	11 pairs of ribs, Upslanted palpebral fissure, Macrotia, Long philtrum, Wide nasal bridge, Microg...	OMIM:618947
Microphthalmia With Limb Anomalies	Cleft upper lip, High palate, Long philtrum, Hypoplasia of the premaxilla, Optic atrophy, Death i...	ORPHA:1106
Say-Barber-Miller Syndrome	Convex nasal ridge, Optic atrophy, Micrognathia, Elbow flexion contracture, Hip dislocation, Ankl...	ORPHA:3132
Thrombocytopenia-Absent Radius Syndrome	Patent ductus arteriosus, Pancreatic cysts, Anemia, Atrioventricular canal defect, Ventricular se...	OMIM:274000
Mosaic Variegated Aneuploidy Syndrome	Subvalvular aortic stenosis, Stomach cancer, Abnormal aortic morphology, Hypothyroidism, Muscular...	ORPHA:1052
Warburg Micro Syndrome 2	Brachycephaly, Macrotia, Optic atrophy, Short nose, Asymmetry of the ears, Microphthalmia, Promin...	OMIM:614225
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho...	OMIM:619313
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Patent ductus arteriosus, Death in childhood, Neonatal respiratory distress	OMIM:618961
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistul...	ORPHA:77298
Aneurysm-Osteoarthritis Syndrome	Abdominal aortic aneurysm, Patent ductus arteriosus, Dental malocclusion, Vascular dilatation, Hi...	ORPHA:284984
Juvenile Polyposis Of Infancy	Patent ductus arteriosus, Anemia, High, narrow palate, Intussusception, Atrial septal defect, Nar...	ORPHA:79076
Septopreoptic Holoprosencephaly	Ethmoidal encephalocele, Precocious puberty, Anterior hypopituitarism, Coarctation of aorta, Cent...	ORPHA:280195
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Cleft upper lip, Decreased response to growth hormone stimulation test, Selective tooth agenesis,...	OMIM:604292
C Syndrome	Epicanthus, Micrognathia, Biparietal narrowing, Dislocated radial head, Smooth philtrum, Cleft pa...	ORPHA:1308
Loeys-Dietz Syndrome 3	Aortic tortuosity, Ventricular hypertrophy, Pneumothorax, Bifid uvula, Camptodactyly, Ascending a...	OMIM:613795
Atelosteogenesis Type Ii	Plagiocephaly, Epicanthus, Micrognathia, Elbow flexion contracture, Midface retrusion, Elbow disl...	ORPHA:56304
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Bicuspid aortic valve, Stroke, Cerebral hemorrhage	OMIM:300049
Tenorio Syndrome	Delayed cranial suture closure, Wide nose, Mandibular prognathia, Recurrent aphthous stomatitis, ...	OMIM:616260
Oculocerebrorenal Syndrome Of Lowe	Respiratory insufficiency, Gingivitis, Patellar dislocation, EEG abnormality, Delayed eruption of...	ORPHA:534
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect	OMIM:617044
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Craniosynostosis, Humeroradial synostosis	OMIM:614416
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Brachycephaly, Patellar subluxation, Wide nasal bridge, Prominent nasolabial fold, Abnormal perio...	ORPHA:480880
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Beemer-Ertbruggen Syndrome	Respiratory insufficiency, Wide nasal bridge, Deep philtrum, Micrognathia, Low-set, posteriorly r...	ORPHA:1237
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Pulmonary arterial hypertension, High palate, Ventricular septal defect, Uplifted e...	OMIM:616449
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Downslanted palpebral fissures, Cleft upper lip, Sensorineural hearing i...	ORPHA:261236
Dysosteosclerosis	Short sternum, Delayed closure of the anterior fontanelle, High palate, Natal tooth, Delayed erup...	OMIM:224300
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Endocardial fibroelastosis, Coarctation of abdominal aorta, Cardiomyopathy	OMIM:226100
Brachydactyly, Type B1	Delayed cranial suture closure, Hypoplastic sacrum, Vertebral fusion, Wide anterior fontanel, Joi...	OMIM:113000
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Irregular dentition, Sensorineural hearing impairment, Wide mouth, Abnormal auditory evoked poten...	OMIM:619260
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Sagittal craniosynostosis, Sensorineural hearing impairment, Wide anterior fontanel, Long philtru...	OMIM:610199
D-Glyceric Aciduria	Patent ductus arteriosus, Sensorineural hearing impairment, Neonatal respiratory distress, Optic ...	OMIM:220120
Meier-Gorlin Syndrome 4	Patellar aplasia, Microtia, Thick lower lip vermilion, Micrognathia, Emphysema, Hypoplasia of the...	OMIM:613804
Wolf-Hirschhorn Syndrome	Conductive hearing impairment, Convex nasal ridge, Wide nasal bridge, Epicanthus, EEG abnormality...	OMIM:194190
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Ptosis, Long philtrum, Tented upper lip vermilion	OMIM:619972
Arterial Tortuosity Syndrome	Short palpebral fissure, Macrotia, Blepharophimosis, Hip dislocation, Respiratory distress, Media...	ORPHA:3342
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Hearing abnormality, Wide nasal b...	ORPHA:1352
Craniofrontonasal Syndrome	Brachycephaly, Downslanted palpebral fissures, Cleft upper lip, Wide nasal bridge, Coronal cranio...	OMIM:304110
Cowden Syndrome 5	Hypothyroidism, Colonic diverticula, High palate, Hyperthyroidism, Micrognathia, Thyroiditis, Hyd...	OMIM:615108
Oculoectodermal Syndrome	Patent ductus arteriosus, Transient ischemic attack, Pineal cyst, Giant cell granuloma of mandibl...	OMIM:600268
Joubert Syndrome 18	Retrognathia, Lobulated tongue, Ventricular septal defect, Arrhinencephaly, Camptodactyly, Cleft ...	OMIM:614815
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Micrognathia, Microdontia, Peg-shap...	OMIM:610706
Non-Functioning Paraganglioma	Pulsatile tinnitus, Conductive hearing impairment, Cranial nerve compression, Weight loss, Tremor...	ORPHA:94080
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Limb undergrowth, Mesomelia, Wormian bones...	OMIM:601356
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Pulmonary arterial hypertension, Mandibular prognathia, Low-set ears, Ventricular s...	ORPHA:464738
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Patent ductus arteriosus, Hamartoma of tongue, Subvalvular aortic stenosis, Cryptorchidism	ORPHA:1338
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Underdeveloped nasal alae, Downslanted palpebral fissures, Aplasia of the inner ear, Conical toot...	ORPHA:90024
Opitz-Kaveggia Syndrome	Downslanted palpebral fissures, Delayed closure of the anterior fontanelle, Cleft upper lip, Sens...	OMIM:305450
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Ventricular septal defect, Supernumera...	ORPHA:2519
Carey-Fineman-Ziter Syndrome	Downslanted palpebral fissures, Aplasia/Hypoplasia of the tongue, High palate, Pierre-Robin seque...	ORPHA:1358
Buschke-Ollendorff Syndrome	Abnormal aortic morphology, Flexion contracture, Generalized limb muscle atrophy, Hearing impairm...	ORPHA:1306
Pallister-Hall Syndrome	Respiratory insufficiency, Atrioventricular canal defect, Precocious puberty, Gonadotropin defici...	ORPHA:672
Yunis-Varon Syndrome	Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Microgn...	ORPHA:3472
Skin Creases, Congenital Symmetric Circumferential, 2	Wide nasal bridge, Epicanthus, Micrognathia, Synophrys, Microdontia, Uplifted earlobe, Cleft pala...	OMIM:616734
Mycophenolate Mofetil Embryopathy	Atresia of the external auditory canal, Ventricular septal defect, Anotia, Microtia, Micrognathia...	ORPHA:268249
Kyphoscoliotic Ehlers-Danlos Syndrome	Shoulder dislocation, Downslanted palpebral fissures, Conductive hearing impairment, Sensorineura...	ORPHA:536545
Lathosterolosis	Thick upper lip vermilion, Downslanted palpebral fissures, Conductive hearing impairment, High pa...	OMIM:607330
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Conductive hearing impairment, Sensorineural hearing impairment	OMIM:610738
Blackfan-Diamond Anemia	Acute myeloid leukemia, Cleft soft palate, Micrognathia, Short neck, Thrombocytopenia, Normochrom...	ORPHA:124
Branchiootic Syndrome 3	Sensorineural hearing impairment, Preauricular pit, Commissural lip pit, Preauricular skin tag, B...	OMIM:608389
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Conductive hearing impairment, Sensorineural hearing impairment,...	OMIM:118100
Coronary Arterial Fistula	Patent ductus arteriosus, Patent foramen ovale, Pulmonary arterial hypertension, Vascular dilatat...	ORPHA:2041
Smith-Lemli-Opitz Syndrome	Precocious puberty, Micrognathia, Bifid uvula, Hypertrophic cardiomyopathy, Cleft palate, Splenom...	OMIM:270400
Coffin-Siris Syndrome 1	Conical tooth, Delayed eruption of teeth, Microdontia, Spina bifida occulta, Cleft palate, Short ...	OMIM:135900
Congenital-Onset Steinert Myotonic Dystrophy	Patent ductus arteriosus, Abnormal cardiac septum morphology, Facial hypotonia, Neonatal respirat...	ORPHA:589821
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta, Anterior radial head dislocation, Triangular face, Limited pronation/s...	OMIM:610967
Roberts-Sc Phocomelia Syndrome	Brachycephaly, Wrist flexion contracture, Absent thumb, Wide nasal bridge, Micrognathia, Elbow fl...	OMIM:268300
Meier-Gorlin Syndrome 2	Underdeveloped nasal alae, Patellar aplasia, Microtia, Micrognathia, Dolichocephaly, Failure to t...	OMIM:613800
Wolcott-Rallison Syndrome	Central hypothyroidism, Double outlet right ventricle, Hypothyroidism, Neonatal insulin-dependent...	ORPHA:1667
Mesomelic Dysplasia, Nievergelt Type	Camptodactyly of finger, Genu varum, Genu valgum, Brachycephaly, Abnormality of the wrist, Radiou...	ORPHA:2633
Carpenter Syndrome	Patent ductus arteriosus, Polysplenia, Umbilical hernia, Cryptorchidism	ORPHA:65759
Silver-Russell Syndrome 1	Delayed cranial suture closure, Short middle phalanx of the 5th finger, Small for gestational age...	OMIM:180860
Restrictive Dermopathy 1	Patent ductus arteriosus, Flexion contracture, Wide anterior fontanel, Natal tooth, Temporomandib...	OMIM:275210
Nephronophthisis 16	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve steno...	OMIM:615382
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta, Hearing impairment, Wormian bones	OMIM:619795
Brown-Vialetto-Van Laere Syndrome 1	Respiratory insufficiency, Sensorineural hearing impairment, Nocturnal hypoventilation, Tongue at...	OMIM:211530
Chromosome 15Q25 Deletion Syndrome	Cleft upper lip, Webbed neck, Ventricular septal defect, Abnormal cardiac septum morphology, Coro...	OMIM:614294
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Delayed closure of the anterior fontanelle, Pierre-Robin sequence, Aspiration, Small for gestatio...	ORPHA:96182
Transketolase Deficiency	Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Type I diabetes mellit...	ORPHA:488618
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Spinal dysraphism, Flexion contracture, Micrognathia, Camptodactyly, Redundant neck skin, Abnorma...	ORPHA:96334
Myasthenic Syndrome, Congenital, 10	Tongue atrophy, Weakness of facial musculature, Reduced vital capacity, Proximal amyotrophy, Dist...	OMIM:254300
Cowden Syndrome 6	Hypothyroidism, Colonic diverticula, High palate, Hyperthyroidism, Micrognathia, Thyroiditis, Hyd...	OMIM:615109
Aural Atresia, Congenital	Conductive hearing impairment, Hyposmia, Atresia of the external auditory canal	OMIM:607842
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Branchial anomaly, Wide mouth, Asthma, Broad chin, Prominent antihelix, Thin upper lip vermilion,...	ORPHA:466950
Diffuse Neonatal Hemangiomatosis	Patent ductus arteriosus, Anemia, Thrombocytopenia	ORPHA:2123
Ruvalcaba Syndrome	Downslanted palpebral fissures, Convex nasal ridge, Abnormality of the elbow, Short metacarpal, S...	ORPHA:3121
X-Linked Intellectual Disability, Wilson Type	Brachycephaly, Mandibular prognathia, Wide mouth, Thick vermilion border	ORPHA:85290
Andersen-Tawil Syndrome	Hyperaldosteronism, High palate, Micrognathia, Oligodontia, Dilated cardiomyopathy, Hypoplasia of...	ORPHA:37553
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Aortic root aneurysm, Mitral valve prolapse	ORPHA:449291
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Coronal craniosynostosis, Micrognathia, Microdontia, Midface retrusion...	OMIM:112240
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Dental malocclusion, Long philtrum, Wide nasal bridge, Epicanthus, EEG abnormality, Micrognathia,...	ORPHA:73223
Meester-Loeys Syndrome	Aortic root aneurysm, Ascending tubular aorta aneurysm, Pulmonary artery aneurysm, Mitral valve p...	OMIM:300989
Pseudotrisomy 13 Syndrome	Cleft upper lip, Encephalocele, Ventricular septal defect, Anal atresia, Median cleft lip and pal...	OMIM:264480
Autosomal Dominant Polycystic Kidney Disease	Aortic root aneurysm, Dilatation of the cerebral artery, Abnormal systemic arterial morphology, M...	ORPHA:730
Peters-Plus Syndrome	Broad neck, Short lingual frenulum, Micrognathia, Microtia, second degree, Short neck, Conical in...	OMIM:261540
Rabson-Mendenhall Syndrome	Hypothyroidism, Precocious puberty, Furrowed tongue, Fasting hyperinsulinemia, Gingival overgrowt...	ORPHA:769
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of molar, Aplasia of the maxilla, Agenesis of lateral incisor	OMIM:313500
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Limb hypertonia, Aganglionic megacolon, Oligodontia, Short philtrum, E...	OMIM:609460
Prune Belly Syndrome	Patent ductus arteriosus, Anal atresia, Aplasia of the abdominal wall musculature, Xerostomia, Cr...	OMIM:100100
Microcephaly 26, Primary, Autosomal Dominant	Long philtrum, Wide nasal bridge, Gingival overgrowth, Long palpebral fissure, Prominent eyelashe...	OMIM:619179
Charcot-Marie-Tooth Disease Type 4B2	Respiratory insufficiency, Difficulty in tongue movements, Sensorineural hearing impairment, Opti...	ORPHA:99956
Fgfr2-Related Bent Bone Dysplasia	Metopic depression, Natal tooth, Coronal craniosynostosis, Micrognathia, Overfolding of the super...	ORPHA:313855
Cutis Laxa, Autosomal Dominant 3	Delayed cranial suture closure, Hip dislocation, Triangular face, Wormian bones, Low-set ears, Pr...	OMIM:616603
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hip subluxation, Micrognathia, Elbow flexion contracture, Midface retrusion, Short palm, Short ri...	OMIM:271665
Orofaciodigital Syndrome I	Bifid tongue, Median cleft lip, Alveolar ridge overgrowth, Ovarian cyst, Cleft palate, Hearing im...	OMIM:311200
Myhre Syndrome	Mandibular prognathia, Precocious puberty, Abnormal cardiac septum morphology, Hypogonadism, Ging...	ORPHA:2588
Pgm3-Cdg	Conductive hearing impairment, Sensorineural hearing impairment, Mild neurosensory hearing impair...	ORPHA:443811
X Small Rings	Aortic root aneurysm, Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Short ne...	ORPHA:96201
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Narrow palate, Ventricular septal defect, Abnormality of dental morphol...	OMIM:277600
Congenital Disorder Of Deglycosylation 1	Brachycephaly, Decreased body weight, Short foot, Small hand, Central sleep apnea, Midface retrus...	OMIM:615273
Macrocephaly/Autism Syndrome	High palate, Long philtrum, Epicanthus, Biparietal narrowing, Midface retrusion, Large for gestat...	OMIM:605309
Kawasaki Disease	Ascending tubular aorta aneurysm, Abnormal heart valve morphology, Pericarditis, Myocarditis, Dou...	ORPHA:2331
Rapp-Hodgkin Syndrome	Conical tooth, Enamel hypoplasia, Cleft upper lip, Microdontia, Hypodontia, Bifid uvula, Taurodon...	OMIM:129400
Loeys-Dietz Syndrome	Patent ductus arteriosus, Camptodactyly of finger, Vascular dilatation, High palate, Micrognathia...	ORPHA:60030
16P13.2 Microdeletion Syndrome	Brachycephaly, Plagiocephaly, Small hand, Asthma, Failure to thrive, Overweight, Sleep apnea, Sho...	ORPHA:500055
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Micrognathia, Elbow flexion contracture, Limb undergrowth, Aplasia/hypoplasia involving bones of ...	ORPHA:508533
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Short 5th finger, Wide nasal bridge, Epicanthus, Telecanthus, Posteriorly rotated ears, Short nos...	OMIM:619522
Campomelic Dysplasia	Respiratory insufficiency, 11 pairs of ribs, Tracheobronchomalacia, Flat face, Low-set ears, Micr...	ORPHA:140
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta	Dentinogenesis imperfecta, Delayed closure of the anterior fontanelle, Dolichocephaly, Limited el...	OMIM:604922
Rhombencephalosynapsis	Septo-optic dysplasia, Aganglionic megacolon, Microretrognathia, Short nose, Narrow mouth, Anteve...	ORPHA:59315
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm	Celiac artery compression	OMIM:116870
Mccune-Albright Syndrome	Dental malocclusion, Abnormal facial skeleton morphology, Hearing impairment, Nasal congestion	ORPHA:562
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Horizontal eyebrow, Abnormal location of the eyebrow, EEG with series of focal spikes, Brachyturr...	ORPHA:522077
Duplication Of The Pituitary Gland	Retrognathia, Decreased body weight, Brachyturricephaly, Wide mouth, Midface retrusion, Supernume...	ORPHA:314621
Rhyns Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Short femoral neck, Ptosis, Thic...	OMIM:602152
Mckusick-Kaufman Syndrome	Patent ductus arteriosus, High palate, Ventricular septal defect, Ectopic anus, Aganglionic megac...	ORPHA:2473
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Abnormal ...	ORPHA:2759
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Knee flexion contracture, Enamel hypoplasia, Mandibular prognathi...	OMIM:151050
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Nodular goiter, Thyroiditis, Myositis, Abnormality of the submandibular ...	ORPHA:79078
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu varum, Genu valgum, Mandibular prognathia, Rhizomelia, Delayed ossification of carpal bones,...	OMIM:271510
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Low-set ears, Cupped ear, Abnormality of cartilage of external ear	ORPHA:2399
Menkes Disease	Brachycephaly, Hypsarrhythmia, Wormian bones	OMIM:309400
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent ductus arteriosus, Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Wide mou...	OMIM:300967
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ankle clonus, Optic atrophy, Cachexia, Respirator...	ORPHA:206436
Developmental And Epileptic Encephalopathy 75	Optic atrophy, Wide nasal bridge, Hypsarrhythmia, Short philtrum, Short nose, Anteverted nares, U...	OMIM:618437
Abcd Syndrome	Total intestinal aganglionosis, Abnormal auditory evoked potentials, White eyelashes, White eyebr...	OMIM:600501
Orofaciodigital Syndrome Xv	Lobulated tongue, Low-set ears, Midline notch of upper alveolar ridge	OMIM:617127
Cole-Carpenter Syndrome	Downslanted palpebral fissures, Turricephaly, Delayed eruption of teeth, Micrognathia, Midface re...	ORPHA:2050
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Patent ductus arteriosus, Peripheral arterial stenosis, Varicose veins, Ventricular septal defect	OMIM:126320
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic root aneurysm, Mitral valve prolapse, Left ventricular hypertrophy, Atrial septal defect, ...	ORPHA:230851
Congenital Sialidosis Type 2	Optic atrophy, Hepatosplenomegaly, Protruding tongue, Abnormal heart morphology, Umbilical hernia...	ORPHA:93400
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Underdeveloped nasal alae, Sparse eyebrow, Conical tooth, Rhinitis, Everted upper lip vermilion, ...	OMIM:305100
1P21.3 Microdeletion Syndrome	Wide mouth, Micrognathia, Short nose, Long ear, Broad nasal tip, Upslanted palpebral fissure, Obe...	ORPHA:293948
Williams-Beuren Syndrome	Medial flaring of the eyebrow, Epicanthus, Microdontia, Midface retrusion, Blepharophimosis, Recu...	OMIM:194050
Rhizomelic Chondrodysplasia Punctata, Type 2	Flexion contracture, High palate, Micrognathia, Submucous cleft hard palate, Midface retrusion, O...	OMIM:222765
Igg4-Related Kidney Disease	Abnormality of the anterior pituitary, Lymphadenitis, Abnormal aortic morphology, Interstitial pn...	ORPHA:449395
Cowden Syndrome 1	Hypothyroidism, Colonic diverticula, High palate, Hyperthyroidism, Micrognathia, Thyroiditis, Hyd...	OMIM:158350
Floating-Harbor Syndrome	Conductive hearing impairment, Microdontia, Dislocated radial head, Enlarged joints, Triangular f...	ORPHA:2044
Restrictive Dermopathy 2	Hypoplastic facial bones, Microretrognathia	OMIM:619793
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Knee flexion contracture, Bilateral conductive hearing impairment, Hip contracture, Small hand, A...	ORPHA:488642
Primrose Syndrome	Brachycephaly, Wide nasal bridge, Epicanthus, Synophrys, Midface retrusion, Torus palatinus, Hear...	OMIM:259050
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Long philtrum, EEG abnormality, Respiratory distress, Short nose, Failure to th...	ORPHA:50810
Oxoglutaric Aciduria	Skeletal muscle atrophy, Abnormal salivary gland morphology	ORPHA:31
Genitourinary And/Or Brain Malformation Syndrome	Short palpebral fissure, Flat face, Aplasia of the nasal bone, Long philtrum, Epicanthus, Microgn...	OMIM:618820
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of the premaxilla, Abnormal cardiac septum morphology, Micrognathia, Ad...	ORPHA:2166
Acrocephalopolydactylous Dysplasia	Oxycephaly, Epicanthus, Short nose, Abnormal pinna morphology, Micromelia, Upslanted palpebral fi...	OMIM:200995
15q26 overgrowth syndrome	Camptodactyly of finger, Downslanted palpebral fissures, Mandibular prognathia, Sensorineural hea...	DECIPHER:81
5Q14.3 Microdeletion Syndrome	Short philtrum, Optic nerve hypoplasia, Short nose, Anteverted nares, Upslanted palpebral fissure...	ORPHA:228384
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Macrotia, Narrow palate, Long philtrum, Micrognathia, Cachexia, Dolichocephaly, Short ...	ORPHA:109
Opsismodysplasia	Respiratory insufficiency, Hypoplastic vertebral bodies, Short nose, Frontal bossing, Depressed n...	ORPHA:2746
Insulin-Resistance Syndrome Type B	Leukopenia, Hyperinsulinemia, Increased serum testosterone level, Enlarged polycystic ovaries, Di...	ORPHA:2298
Moebius Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Death in infancy, Aplasia of the pectoralis major ...	ORPHA:570
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Depressed nasal bridge, Anosmia, Short distal phalanx of finger, Short nasal septum, ...	OMIM:302950
Dyrk1A-Related Intellectual Disability Syndrome	Patent ductus arteriosus, Anterior pituitary hypoplasia, Macrotia, Ventricular septal defect, Mul...	ORPHA:464306
Wrinkly Skin Syndrome	Delayed cranial suture closure, Downslanted palpebral fissures, Delayed closure of the anterior f...	OMIM:278250
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Knee flexion contracture, Upper limb amyotrophy, Tongue atrophy, Proximal muscle weakness in uppe...	ORPHA:496689
Cohen-Gibson Syndrome	Patent ductus arteriosus, Retrognathia, Macrotia, Flexion contracture, Camptodactyly, Long ear, C...	OMIM:617561
Cutis Laxa, Autosomal Recessive, Type Iid	Retrognathia, Downslanted palpebral fissures, Macrotia, Pneumothorax, Entropion, Wide nasal bridg...	OMIM:617403
Atypical Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Tongue atrophy	ORPHA:216873
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta, Short lower limbs, Decreased calvarial ossification, Wormian bones	OMIM:259440
Analbuminemia	Patent ductus arteriosus	OMIM:616000
Van Esch-O'Driscoll Syndrome	Retrognathia, Short palpebral fissure, Wide mouth, Microtia, Bifid uvula, Short nose, Depressed n...	OMIM:301030
Middle Ear Neuroendocrine Tumor	Sensorineural hearing impairment, Abnormality of the auditory canal, Unilateral conductive hearin...	ORPHA:100084
Icf Syndrome	Flat face, Epicanthus, Micrognathia, Macroglossia, Depressed nasal bridge, Protruding tongue, Low...	ORPHA:2268
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Te...	OMIM:618748
Cantú Syndrome	Patent ductus arteriosus, Long philtrum, Wide mouth, Hypertrophic cardiomyopathy, Short neck, Low...	ORPHA:1517
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Lower limb muscle weakness, Tongue atrophy, Foot dorsiflexor weakness, Upper limb muscle weakness...	OMIM:616155
Diabetes Insipidus, Neurohypophyseal	Wide nose, Long philtrum, Short nose	OMIM:125700
Phocomelia, Schinzel Type	Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Micromelia, F...	ORPHA:2879
Achondrogenesis, Type Ia	Hypoplastic sacrum, Flat face, Turricephaly, Short ribs, Hypoplasia of the radius, Short nose, Hy...	OMIM:200600
Igg4-Related Thyroid Disease	Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Graves disease, ...	ORPHA:64744
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Sparse eyebrow, Long philtrum, Micrognathia, Synophrys, Keratoconjunctivitis sicca, Broad eyebrow...	ORPHA:495875
Combined Oxidative Phosphorylation Deficiency 3	Patent ductus arteriosus, Patent foramen ovale, Respiratory insufficiency, Rhabdomyolysis, Optic ...	OMIM:610505
Grant Syndrome	Micrognathia, Wormian bones	OMIM:138930
Vater/Vacterl Association	Patent ductus arteriosus, Ventricular septal defect, Esophageal atresia, Spina bifida, Patent ura...	OMIM:192350
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Respiratory failure, ...	ORPHA:3240
Galloway-Mowat Syndrome 3	High palate, Micrognathia, Midface retrusion, Camptodactyly, Coarctation of aorta, Narrow mouth, ...	OMIM:617729
Spondyloepimetaphyseal Dysplasia, Krakow Type	Patent ductus arteriosus, Knee flexion contracture, High palate, Allergic rhinitis, Asthma, Elbow...	OMIM:618162
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth, Mixed hearing impairment, Thickened calvaria	OMIM:126550
Igg4-Related Submandibular Gland Disease	Sialadenitis, Abnormality of the submandibular glands, Lymphadenopathy, Abnormal salivary gland m...	ORPHA:449432
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Patent ductus arteriosus, Ventricular septal defect, Posterior pituitary hypoplasia, Duodenal atr...	ORPHA:464311
Cockayne Syndrome Type 3	Enamel hypoplasia, Macrotia, Conductive hearing impairment, Adult onset sensorineural hearing imp...	ORPHA:90324
Toriello-Lacassie-Droste Syndrome	Short palpebral fissure, Abnormal conjunctiva morphology, Epicanthus, Blepharophimosis, Abnormali...	ORPHA:3339
Sponastrime Dysplasia	Hip subluxation, Aplasia of the nasal bone, Epicanthus, Microdontia, Hip dislocation, Midface ret...	ORPHA:93357
Alzahrani-Kuwahara Syndrome	Patent foramen ovale, Macrotia, Long philtrum, Ventricular septal defect, Coronary sinus enlargem...	OMIM:619268
Charcot-Marie-Tooth Disease Type 1F	Sensorineural hearing impairment, Distal lower limb amyotrophy, Tongue atrophy, Hand muscle atrop...	ORPHA:101085
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent thumb, Wide nasal bridge, Epicanthus, Optic atrophy, Bifid uvula, Optic nerve hypoplasia, ...	ORPHA:500150
X-Linked Agammaglobulinemia	Anemia, Sensorineural hearing impairment, Glossoptosis, Malabsorption, Abnormality of the lymphat...	ORPHA:47
Melnick-Needles Syndrome	Pulmonary arterial hypertension, Delayed cranial suture closure, Genu valgum, Obtuse angle of man...	OMIM:309350
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Bilateral ptosis, Ab...	ORPHA:1215
Achard Syndrome	Brachycephaly, Micrognathia, Broad skull	OMIM:100700
Mirage Syndrome	Patent ductus arteriosus, Leukopenia, Anemia, Esophageal stricture, Aspiration pneumonia, Decreas...	OMIM:617053
Thrombocytopenia-Absent Radius Syndrome	Sensorineural hearing impairment, Abnormal cardiac septum morphology, Micrognathia, Low-set, post...	ORPHA:3320
Mend Syndrome	High palate, Micrognathia, Midface retrusion, Narrow palpebral fissure, Microretrognathia, Failur...	OMIM:300960
Absent Eyebrows And Eyelashes With Mental Retardation	Absent eyelashes, Convex nasal ridge, Absent eyebrow, Short nose	OMIM:200130
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Anterior pituitary hypoplasia, Sensorineural hearing impairment, Ventri...	OMIM:206900
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome	Micrognathia, Mandibular condyle hypoplasia, Hypoplasia of the premaxilla	ORPHA:2975
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Aortic root aneurysm	OMIM:615349
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Wide nose, Brachycephaly, Advanced ossification of carpal bones, Short femoral neck, Epicanthus, ...	OMIM:610442
Noonan Syndrome With Multiple Lentigines	Brachycephaly, Sensorineural hearing impairment, Wide nasal bridge, Triangular face, Ptosis, Seve...	ORPHA:500
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Short nose, Broad nasal tip, Tented upper lip vermilion, Hearing impairment, C...	OMIM:614207
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Abnormal nasolacrimal system morphology, Mandibular prognathia, M...	ORPHA:2658
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Supernumerary nipple, Patent foramen ovale, Ventricular septal defect, Left ventricular hypertrop...	ORPHA:466791
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Cleft upper lip, Webbed neck, Diabetes mellitus, Cleft palate, Varicose...	ORPHA:33001
Pseudo-Torch Syndrome 2	Patent ductus arteriosus, Respiratory insufficiency, Cerebral hemorrhage, Secundum atrial septal ...	OMIM:617397
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Anemia, Reticulocytopenia, Esophageal atresia, Leukemia, Pancytopenia, ...	OMIM:227646
Immunodeficiency 23	Aortic root aneurysm, Vasculitis in the skin	OMIM:615816
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Flat face, Joint dislocation, Wide nasal bridge, Micrognathia, Bifid uvula, Radioulnar synostosis...	OMIM:130070
Proteus-Like Syndrome	Splenomegaly, Mandibular prognathia, Venous insufficiency, Polycystic ovaries, Abnormality of the...	ORPHA:2969
Camptodactyly Syndrome, Guadalajara Type 3	Retrognathia, Flat face, Small hand, Distal shortening of limbs, Symblepharon, Broad columella, T...	ORPHA:488434
Pallister-Killian Syndrome	Flexion contracture, Delayed eruption of teeth, Micrognathia, Bifid uvula, Supernumerary nipple, ...	OMIM:601803
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Decreased body weight, Plagiocephaly, Wide nasal bridge, EEG abnormality, Synophrys, Broad eyebro...	OMIM:619475
Orofaciodigital Syndrome Iv	Lobulated tongue, High palate, Tongue nodules, Micrognathia, Accessory oral frenulum, Cleft palat...	OMIM:258860
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Downslanted palpebral fissures, Sparse eyebrow, Macrotia, Mandibular prognathia, High palate, Lar...	OMIM:617011
Lacrimoauriculodentodigital Syndrome 1	Enamel hypoplasia, Delayed eruption of primary teeth, Microtia, Microdontia, Absence of Stensen d...	OMIM:149730
Schneckenbecken Dysplasia	Advanced ossification of carpal bones, Short ribs, Flat acetabular roof, Midface retrusion, Short...	OMIM:269250
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue, Facial palsy	ORPHA:2743
Sotos Syndrome	Hypothyroidism, Conductive hearing impairment, Flexion contracture, No permanent dentition, Acute...	ORPHA:821
Verheij Syndrome	Vertebral fusion, Short 5th finger, Long philtrum, Wide nasal bridge, Hip dislocation, Short nose...	OMIM:615583
Isolated Exencephaly	Low-set ears, Hypoplasia of the frontal bone, Abnormal facial skeleton morphology	ORPHA:563612
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Gingival recession, Retrognathia, Vascular dilatation, Micrognathia, Pulmonic stenosis, Dental cr...	OMIM:618343
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypothyroidism, Precocious puberty, Optic disc pallor, Breathing dysregulation, Patent foramen ov...	ORPHA:438213
Solar Urticaria	Abnormal lip morphology, Vertigo, Dyspnea, Abnormal tongue morphology, Wheezing	ORPHA:97230
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Cerebral arteriovenous malformation, Pulmonary arteriovenous ...	OMIM:175050
Hartnup Disorder	Glossitis	OMIM:234500
Microtia, Hearing Impairment, And Cleft Palate	Microtia, Increased incisura length, Mixed hearing impairment, Cleft palate, Stenosis of the exte...	OMIM:612290
Hypermethioninemia Due To Adenosine Kinase Deficiency	Sensorineural hearing impairment, Secundum atrial septal defect, Coarctation of aorta, Skeletal m...	OMIM:614300
Cutis Laxa, Autosomal Recessive, Type Ib	Aortic root aneurysm, Pulmonary artery aneurysm, Vascular tortuosity, Pulmonary artery dilatation...	OMIM:614437
Keutel Syndrome	Macrotia, Ventricular septal defect, Deep philtrum, Pulmonic stenosis, Midface retrusion, Chronic...	OMIM:245150
Acute Bilirubin Encephalopathy	Abnormal conjunctiva morphology, Sensorineural hearing impairment, Abnormal auditory evoked poten...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Abnormal conjunctiva morphology, Sensorineural hearing impairment, Abnormal auditory evoked poten...	ORPHA:529808
Renal-Hepatic-Pancreatic Dysplasia 1	Patent ductus arteriosus, Pancreatic cysts, Asplenia, Neonatal death, Preauricular pit, Polysplen...	OMIM:208540
Classical-Like Ehlers-Danlos Syndrome Type 2	Aortic root aneurysm, Carotid artery stenosis, Webbed neck, Pericardial effusion, Mitral valve pr...	ORPHA:536532
Acro-Renal-Ocular Syndrome	Short palpebral fissure, Vertebral fusion, Conductive hearing impairment, Sensorineural hearing i...	ORPHA:959
Oculocerebral Hypopigmentation Syndrome, Cross Type	Sensorineural hearing impairment, EEG abnormality, Microdontia, Dolichocephaly, Short nose, Depre...	ORPHA:2719
Otofaciocervical Syndrome 1	Conductive hearing impairment, High palate, Hypoplasia of the cochlea, Narrow nose, Mixed hearing...	OMIM:166780
Microtia With Meatal Atresia And Conductive Deafness	Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Anotia, Microtia	OMIM:251800
Hereditary Orotic Aciduria	Patent ductus arteriosus, Anemia, Low-set, posteriorly rotated ears, Splenomegaly	ORPHA:30
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Apnea, Bronchospasm, Cardiorespiratory arrest, Abnormal pattern of ...	OMIM:608800
Mowat-Wilson Syndrome	Asplenia, Conductive hearing impairment, Flexion contracture, Abnormal cardiac septum morphology,...	ORPHA:2152
Jacobsen Syndrome	Short toe, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Long philtrum, Wide...	ORPHA:2308
Marfanoid-Progeroid-Lipodystrophy Syndrome	Aortic root aneurysm, Mitral valve prolapse	OMIM:616914
Osteogenesis Imperfecta, Type Ii	Respiratory insufficiency, Convex nasal ridge, Small for gestational age, Limb undergrowth, Large...	OMIM:166210
Adult-Onset Autosomal Dominant Leukodystrophy	Aspiration pneumonia, Sensorineural hearing impairment, Abnormality of somatosensory evoked poten...	ORPHA:99027
Cutis Marmorata Telangiectatica Congenita	Patent ductus arteriosus, Hypothyroidism, Arteriovenous malformation, Micrognathia, Arterial sten...	ORPHA:1556
9q subtelomeric deletion syndrome	Synophrys, Midface retrusion, Short nose, Protruding tongue, Anteverted nares	DECIPHER:52
Melioidosis	Abnormal parotid gland morphology, Parotitis, Abnormality of the spleen, Pneumonia, Splenic absce...	ORPHA:31202
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Oral ulcer, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell re...	OMIM:602450
Otospondylomegaepiphyseal Dysplasia	Sensorineural hearing impairment, Micrognathia, Bifid uvula, Midface retrusion, Short neck, Cleft...	ORPHA:1427
Esophageal Atresia	Ventricular septal defect, Aspiration, Abnormality of the ear, Pyloric stenosis, Maternal diabete...	ORPHA:1199
Proteus Syndrome	Pulmonary embolism, Downslanted palpebral fissures, Macrotia, Narrow internal auditory canal, Ret...	ORPHA:744
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Camptodactyly of finger, Mandibular prognathia, Long philtrum, Abnormality of the ear, Tricuspid ...	ORPHA:1101
Chromosome 13Q14 Deletion Syndrome	High palate, Deep philtrum, Epicanthus, Micrognathia, Hip dislocation, Dolichocephaly, Frontal bo...	OMIM:613884
Orofaciodigital Syndrome Type 3	Irregular dentition, Lobulated tongue, Bifid uvula, Low-set ears, Hamartoma of tongue, Cherry red...	ORPHA:2752
Mandibuloacral Dysplasia With Type B Lipodystrophy	Convex nasal ridge, Micrognathia, Aplasia/Hypoplasia of the clavicles, Short nose, Narrow mouth, ...	ORPHA:90154
Camptodactyly Syndrome, Guadalajara, Type Iii	Retrognathia, Flat face, Joint contracture of the hand, Torticollis, Symblepharon, Abnormal pinna...	OMIM:611929
Yunis-Varon Syndrome	Short 2nd finger, Absent thumb, Epicanthus, Micrognathia, Hypoplastic facial bones, Hip dislocati...	OMIM:216340
Bardet-Biedl Syndrome 8	Brachycephaly, Obesity	OMIM:615985
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Brachycephaly, Downslanted palpebral fissures, Wide nasal bridge, Widely spaced teeth, Synophrys,...	OMIM:616728
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft mandible, Hip subluxation, Short tibia, Short 5th finger, Micrognathia, Cleft lower alveola...	OMIM:268305
Liver Disease, Severe Congenital	Subvalvular aortic stenosis, Micrognathia, Cholesteatoma, Hyperinsulinemic hypoglycemia, Thromboc...	OMIM:619991
Fucosidosis	Brachycephaly, Failure to thrive, Hearing impairment, Abnormality of the dentition	ORPHA:349
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Flexion contracture, Optic atrophy, Delayed eruption of teeth, Bifid uvula, Camptodacty...	ORPHA:261552
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Patent ductus arteriosus, Elevated pulmonary artery pressure, Sensorineural hearing impairment, M...	OMIM:619351
Orofaciodigital Syndrome Iii	Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth, Low-set ears	OMIM:258850
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Wide nasal bridge, Epicanthus, Micrognathia, Ptosis, Microphthal...	ORPHA:1587
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Retrognathia, High palate, Micrognathia, Synophrys, Narrow palpebral fissure, Narrow mouth, Long ...	OMIM:301091
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Limb-girdle muscle weakness, Tongue atrophy, Sensory axonal neuropathy, Distal amyotrophy, Upper ...	ORPHA:466768
Kabuki Syndrome 1	Premature thelarche, Recurrent aspiration pneumonia, Micrognathia, Anoperineal fistula, Cleft pal...	OMIM:147920
Sarcoidosis	Abnormal lymph node morphology, Hypothyroidism, Pneumothorax, Bronchiectasis, Pleural effusion, I...	ORPHA:797
Bruck Syndrome	Respiratory insufficiency, Pterygium, Wormian bones, Triangular face	ORPHA:2771
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thick lower lip vermilion, Short nose, Thin upper lip vermilion, Anteverted nares, Tented upper l...	OMIM:619854
Geleophysic Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Upslanted palpebral fissure, Short foot, Join...	OMIM:231050
Myopathy, Myofibrillar, 7	Increased variability in muscle fiber diameter, Z-band streaming, Flexion contracture, Multiple j...	OMIM:617114
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Aortic root aneurysm, Atrial septal defect	OMIM:618891
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Long philtrum, Synophrys, Keratoconjunctivitis sicca, Long eyelashes, Tented philtrum, Buphthalmo...	OMIM:618479
Proboscis Lateralis	Patent ductus arteriosus, Abnormal paranasal sinus morphology, Optic disc coloboma, High palate, ...	ORPHA:141099
Spastic Tetraplegia And Axial Hypotonia, Progressive	Low-set ears, Exaggerated startle response, Ankle clonus, Posteriorly rotated ears	OMIM:618598
Neonatal Marfan Syndrome	Aortic root aneurysm, Ascending tubular aorta aneurysm, Mitral valve prolapse, Abnormal cardiac v...	ORPHA:284979
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion, Cranial hyperostosis, Optic nerve compression	OMIM:259730
Whim Syndrome	Lymphadenitis, Neutropenia, Abnormality of neutrophil morphology, Bronchiectasis, Severe periodon...	ORPHA:51636
Atrial Septal Defect 1	Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi...	OMIM:108800
45,X/46,Xy Mixed Gonadal Dysgenesis	Hypothyroidism, High palate, Webbed neck, Micrognathia, Bilateral cryptorchidism, Bicuspid aortic...	ORPHA:1772
Osteogenesis Imperfecta, Type Xviii	Wide nasal bridge, Micrognathia, Long eyelashes, Wormian bones, Abnormality of the dentition	OMIM:617952
Omenn Syndrome	Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E...	OMIM:603554
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Respiratory insufficiency, Cardiomyopathy, Pulmonary arterial hypertension, Flexion contracture, ...	ORPHA:258
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu varum, Genu valgum, Conductive hearing impairment, Short foot, Short ribs, Carpal bone hypop...	OMIM:250420
Diamond-Blackfan Anemia 1	Retrognathia, Cleft upper lip, High palate, Webbed neck, Reticulocytopenia, Ventricular septal de...	OMIM:105650
Wrinkly Skin Syndrome	Downslanted palpebral fissures, Delayed closure of the anterior fontanelle, High palate, Long phi...	ORPHA:2834
Pagod Syndrome	Meningocele, Abnormal aortic morphology, Encephalocele, Optic atrophy, Abnormal testis morphology...	ORPHA:991
Leopard Syndrome 1	Mandibular prognathia, Sensorineural hearing impairment, Limited elbow movement, Depressed nasal ...	OMIM:151100
Late-Infantile/Juvenile Krabbe Disease	EEG with persistent abnormal rhythmic activity, Prolonged brainstem auditory evoked potentials, D...	ORPHA:206443
Meckel Syndrome, Type 7	Patent ductus arteriosus, Pancreatic cysts, Atrial septal defect, Hepatosplenomegaly, Situs inver...	OMIM:267010
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Adrenal gland agenesis, Congenital diaphragmatic hernia, Pulmonary art...	OMIM:611812
Combined Immunodeficiency-Enteropathy Spectrum	Hypoplasia of the thymus, Ventricular septal defect, Type I diabetes mellitus, Intestinal malrota...	ORPHA:436252
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Brachycephaly, Optic nerve dysplasia, Plagiocephaly, Short philtrum, Frontal bossing, Dental crow...	OMIM:617296
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Small for gestational age, EEG with multifocal slow activity, Short nose	ORPHA:289266
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Wide nose, Brachycephaly, Choanal stenosis, Conductive hearing impairment, Joint contracture of t...	OMIM:201750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cleft upper lip, Optic atrophy, Microtia, Micrognathia, Optic nerve hypoplasia, Buphthalmos, Micr...	OMIM:236670
Arthrogryposis, Distal, Type 5D	Decreased muscle mass, Tongue atrophy, Micrognathia, Elbow flexion contracture, Camptodactyly, Na...	OMIM:615065
Simpson-Golabi-Behmel Syndrome	Camptodactyly of finger, Short toe, Vertebral fusion, Mandibular prognathia, Downslanted palpebra...	ORPHA:373
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, High palate, Wide nasal bridge, Widely spaced teeth, Synophrys, Bulbou...	OMIM:615803
Ataxia-Telangiectasia	Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Bronchiectasis, Acute lymphobla...	OMIM:208900
Common Variable Immunodeficiency	Brachycephaly, Bronchiectasis, Recurrent bronchitis, Emphysema, Restrictive ventilatory defect, O...	ORPHA:1572
Aromatic L-Amino Acid Decarboxylase Deficiency	Exaggerated startle response, Blepharospasm, Nasal congestion, Limb dystonia, Torticollis, Choreo...	OMIM:608643
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Retrognathia, Underdeveloped nasal alae, Short 5th toe, Cleft soft palate, Widely spaced teeth, S...	ORPHA:268261
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue, Camptodactyly of finger, Decreased nerve conduction velocity	ORPHA:2928
Kyphomelic Dysplasia	Flat face, Cleft upper lip, Short metacarpal, Micrognathia, Flat acetabular roof, Pterygium, Shor...	OMIM:211350
Renal And Mullerian Duct Hypoplasia	Frontal bossing, Micrognathia, Short nose	OMIM:266810
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pulsatile tinnitus, Conductive hearing impairment, Cranial nerve compression, Weight loss, Tremor...	ORPHA:276621
Cog1-Cdg	Pulmonary arterial hypertension, Downslanted palpebral fissures, High palate, Rhizomelia, Wide na...	ORPHA:263508
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy	OMIM:616881
Pentalogy Of Cantrell	Absent gallbladder, Non-midline cleft lip, Abnormal pericardium morphology, Encephalocele, Ventri...	ORPHA:1335
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Biliary, Renal, Neurologic, And Skeletal Syndrome	Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Secundum atrial septal d...	OMIM:619534
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Downslanted palpebral fissures, Macrotia, Conductive hearing impairment, Hip contracture, Plagioc...	ORPHA:3042
Microcephaly 3, Primary, Autosomal Recessive	Widely spaced teeth, Sensorineural hearing impairment, Mixed hearing impairment, Prominent nose	OMIM:604804
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Wide nasal bridge, Epicanthus, Optic atrophy, Micrognathia, Midface retrusion, Posteriorly rotate...	OMIM:309580
Craniolenticulosutural Dysplasia	High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Microdontia, Hypoplasia of the...	ORPHA:50814
3-Methylglutaconic Aciduria, Type Viii	Patent ductus arteriosus, Respiratory failure, Sensorineural hearing impairment, Neutropenia, Dea...	OMIM:617248
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Hypoplasia of the maxilla, Mandibular prognathia	ORPHA:3044
Thymic Aplasia	Hypothyroidism, T lymphocytopenia, Malabsorption, Coombs-positive hemolytic anemia, Thyroiditis, ...	ORPHA:83471
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary arterial hypertension, Pulmonary embolism, Megaloblastic anemia, Optic atrophy, Stomati...	ORPHA:79282
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, High palate, Long philtrum, Apnea, Truncal titubation, Tremor, Thin...	OMIM:618056
Agel Amyloidosis	Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Tongue atrophy, Abnormal sp...	ORPHA:85448
Cartilage-Hair Hypoplasia	Brachycephaly, Sparse eyebrow, Aganglionic megacolon, Hypoplasia of the odontoid process, Limited...	OMIM:250250
Aspartylglucosaminuria	Mandibular prognathia, Wide nasal bridge, Microtia, Arthritis, Macroglossia, Short nose, Thickene...	ORPHA:93
Eisenmenger Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary arterial hypertension, Bacteri...	ORPHA:97214
Hyperekplexia 1	Apnea, Exaggerated startle response, Hip dislocation, Aspiration	OMIM:149400
Meckel Syndrome	Pancreatic cysts, Asplenia, Aplasia/Hypoplasia of the tongue, Encephalocele, Optic atrophy, Micro...	ORPHA:564
Geroderma Osteodysplasticum	Hypoplasia of the maxilla, Malar flattening, Mandibular prognathia	OMIM:231070
Townes-Brocks Syndrome	Patent ductus arteriosus, Hypothyroidism, Wide mouth, Abnormal tragus morphology, Microtia, Abnor...	ORPHA:857
Holzgreve Syndrome	Macrotia, Aplasia/Hypoplasia of the tongue, Bifid tongue, Webbed neck, Low-set, posteriorly rotat...	ORPHA:2167
Hereditary Pheochromocytoma-Paraganglioma	Pulsatile tinnitus, Conductive hearing impairment, Cranial nerve compression, Weight loss, Retina...	ORPHA:29072
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Aortic valve atresia, Mitral atresia, Low-set ears, Death in infancy, Micrognathia, Bilateral sup...	OMIM:220111
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Abnormal mandible morphology, Hypodontia, Submucous cleft hard palate, H...	ORPHA:3201
Kinsship Syndrome	Mandibular prognathia, Wide mouth, Widely spaced teeth, Thick lower lip vermilion, Ankyloglossia,...	OMIM:619297
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Brachycephaly, Sensorineural hearing impairment, Midface retrusion, Hip dislocation, Failure to t...	OMIM:616263
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Death in infancy, Type 2 muscle fiber predominance, Micrognathia, Type 1 muscle fiber atrophy, Ty...	OMIM:619036
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Genu varum, Conductive hearing impairment, Short femoral neck, Recurrent otitis media, Antecubita...	ORPHA:2502
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Patent ductus arteriosus, High palate	OMIM:259100
Charcot-Marie-Tooth Disease Type 4C	Decreased number of peripheral myelinated nerve fibers, Difficulty in tongue movements, Respirato...	ORPHA:99949
Knobloch Syndrome	Patent ductus arteriosus, Pyloric stenosis, Midface retrusion, Dextrocardia, Occipital encephaloc...	ORPHA:1571
Leprosy	Testicular mass, Abnormal autonomic nervous system physiology, Enlarged peripheral nerve, Epistax...	ORPHA:548
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplastic aortic arch	ORPHA:457284
Trichohepatoenteric Syndrome 1	Long philtrum, Villous atrophy, Wide mouth, Microtia, Ventricular septal defect, Pulmonic stenosi...	OMIM:222470
Pontocerebellar Hypoplasia, Type 1B	Respiratory insufficiency, Flexion contracture, Tongue atrophy, Skeletal muscle atrophy, Tongue f...	OMIM:614678
Turner Syndrome Due To Structural X Chromosome Anomalies	Aortic arch aneurysm, Broad neck, Micrognathia, Increased circulating gonadotropin level, Celiac ...	ORPHA:99413
Mosaic Monosomy X	Aortic arch aneurysm, Broad neck, Micrognathia, Increased circulating gonadotropin level, Celiac ...	ORPHA:99228
Monosomy X	Aortic arch aneurysm, Broad neck, Micrognathia, Increased circulating gonadotropin level, Celiac ...	ORPHA:99226
Turner Syndrome	Aortic arch aneurysm, Broad neck, Micrognathia, Increased circulating gonadotropin level, Celiac ...	ORPHA:881
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Respiratory insufficiency, Flexion contracture, Micrognathia, Elbow flexion contracture, Short ne...	OMIM:210710
Ebstein Malformation Of The Tricuspid Valve	Patent ductus arteriosus, Imperforate tricuspid valve, Respiratory insufficiency, Abnormal cardia...	ORPHA:1880
Microform Holoprosencephaly	Asthma, Short philtrum, Short nose, Midnasal stenosis, Narrow nasal bridge, Solitary median maxil...	ORPHA:280200
Wiedemann-Rautenstrauch Syndrome	Camptodactyly of finger, Lagophthalmos, Convex nasal ridge, Optic atrophy, Synophrys, Short femur...	ORPHA:3455
Dyskeratosis Congenita	Splenomegaly, Anemia, Periodontitis, Abnormal testis morphology, Malabsorption, Hypodontia, Neopl...	ORPHA:1775
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Precocious puberty, Ventricular septal defect, Cerebral hemorrhage, Vol...	OMIM:616682
Hyperekplexia 3	Apnea, Respiratory arrest, Exaggerated startle response	OMIM:614618
Lipodystrophy, Familial Partial, Type 7	Pulmonary arterial hypertension, Narrow nasal ridge, Small for gestational age, Short nose, Pleur...	OMIM:606721
X-Linked Intellectual Disability, Cantagrel Type	Tented upper lip vermilion, Short philtrum, Short nose	ORPHA:85277
Greenberg Dysplasia	Retrognathia, Neonatal death, Micrognathia, Midface retrusion, Pancreatic islet-cell hyperplasia,...	OMIM:215140
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, High palate, Absent eyelashes, Aplasia/Hypoplasia of the clavicles, ...	ORPHA:90153
Okur-Chung Neurodevelopmental Syndrome	High palate, Micrognathia, Thin upper lip vermilion, Protruding tongue, Abnormal heart morphology...	OMIM:617062
Spondyloepiphyseal Dysplasia Congenita	Glossoptosis, Micrognathia, Abnormal respiratory system physiology, Laryngotracheomalacia, Short ...	ORPHA:94068
Cerebellar Ataxia-Hypogonadism Syndrome	Brachycephaly, Optic atrophy	ORPHA:1173
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Respiratory failure, Tongue atrophy	OMIM:613435
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Delayed cranial suture closure, High palate, Hyposmia, Epicanthus, Narrow palpebral fissure, Fron...	OMIM:618653
Congenital Disorder Of Glycosylation, Type Iiw	Anemia, Ventricular septal defect, Ankyloglossia, Micrognathia, Supernumerary tooth, Recurrent ot...	OMIM:619525
Tay-Sachs Disease	Exaggerated startle response, Ankle clonus, Aspiration pneumonia, Optic atrophy, Limited knee ext...	ORPHA:845
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Sensorineural hearing impairment, Absent brainstem auditory responses, Torticollis, White eyelash...	OMIM:609136
Vascular Ehlers-Danlos Syndrome	Respiratory insufficiency, Gingivitis, Ascending tubular aorta aneurysm, Pneumothorax, Microdonti...	ORPHA:286
17Q11 Microdeletion Syndrome	Precocious puberty, Plexiform neurofibroma, Hypertrophic cardiomyopathy, Multiple mucosal neuroma...	ORPHA:97685
Cronkhite-Canada Syndrome	Stomach cancer, Anemia, Malabsorption, Intestinal polyposis, Colon cancer, Hypogeusia, Furrowed t...	ORPHA:2930
Cerebrotendinous Xanthomatosis	Abnormal eyelid morphology, Abnormality of the elbow, Resting tremor, Abnormality of somatosensor...	ORPHA:909
Paragangliomas 1	Pulsatile tinnitus, Conductive hearing impairment	OMIM:168000
Knobloch Syndrome 2	Patent ductus arteriosus, Enamel hypoplasia, Encephalocele, Micrognathia, Pyloric stenosis	OMIM:618458
Alport Syndrome	Renal glomerular foam cells, Aortic aneurysm, Abnormal aortic morphology	ORPHA:63
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Respiratory distress	OMIM:618201
Holt-Oram Syndrome	Patent ductus arteriosus, Ventricular septal defect, Aplasia of the pectoralis major muscle, Secu...	OMIM:142900
Ulbright-Hodes Syndrome	Convex nasal ridge, Pneumothorax, Humeroradial synostosis, Micrognathia, Prominent occiput, Phoco...	ORPHA:3404
Fanconi Anemia, Complementation Group U	Patent ductus arteriosus, Unilateral facial palsy	OMIM:617247
Spinocerebellar Ataxia Type 36	Tongue atrophy, Vertigo, Skeletal muscle atrophy, Tongue fasciculations, Hearing impairment	ORPHA:276198
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Abnormal heart morphology, Cryptorchidism	ORPHA:531151
Mietens Syndrome	Wide nose, Wide nasal bridge, Hypoplasia of the radius, Elbow ankylosis, Hip dislocation, Short n...	ORPHA:2557
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Spinocerebellar Ataxia 36	Tongue fasciculations, Skeletal muscle atrophy, Hearing impairment, Tongue atrophy	OMIM:614153
Lelis Syndrome	Mandibular prognathia, Hypodontia, Midface retrusion, Carious teeth, Furrowed tongue	ORPHA:140936
Knobloch Syndrome 1	Patent ductus arteriosus, Peripapillary atrophy, Pyloric stenosis, Midface retrusion, Spina bifid...	OMIM:267750
Bilateral Perisylvian Polymicrogyria	Distal arthrogryposis, Flexion contracture, Limb hypertonia, Abnormality of masticatory muscle, A...	ORPHA:98889
Hypohidrotic Ectodermal Dysplasia	Abnormality of dental morphology, Breast aplasia, Hypoplasia of the maxilla, Tooth agenesis, Xero...	ORPHA:238468
Hartsfield Syndrome	Diabetes insipidus, Cleft upper lip, Hypoplasia of the frontal bone, Gonadotropin deficiency, Med...	OMIM:615465
Singleton-Merten Syndrome 1	Subvalvular aortic stenosis, Eruption failure, Cardiomegaly, Muscle fiber atrophy, Tendon rupture...	OMIM:182250
3Mc Syndrome 2	Prominence of the premaxilla, Hearing impairment	OMIM:265050
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy, Glossitis, Macroglossia	ORPHA:2221
Brittle Cornea Syndrome	Cleft palate, Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the...	ORPHA:90354
Diamond-Blackfan Anemia 8	Thick upper lip vermilion, Wide nasal bridge, Short nose	OMIM:612563
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality	ORPHA:206448
Muir-Torre Syndrome	Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm, Adenoma sebaceum	ORPHA:587
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Ankle clonus, Exaggerated startle response, Optic disc pallor, Optic atrophy	OMIM:609541
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response, EEG with temporal focal spikes	ORPHA:163985
Mucoepithelial Dysplasia, Hereditary	Cor pulmonale, Erythematous oral mucosa, Recurrent pneumonia, Rhinorrhea, Eosinophilia, Furrowed ...	OMIM:158310
Melkersson-Rosenthal Syndrome	Abnormal autonomic nervous system physiology, Macroglossia, Lymphadenopathy, Furrowed tongue, Che...	ORPHA:2483
Paget Disease Of Bone 2, Early-Onset	Bilateral conductive hearing impairment, Premature loss of teeth, Short femur	OMIM:602080
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Short nose, Short distal phalanx of finger, Joint hemorrhage	OMIM:277450
Autosomal Dominant Cerebellar Ataxia	Sensorineural hearing impairment, Tongue atrophy, Torticollis, Sensory axonal neuropathy, Periphe...	ORPHA:99
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pulmonary arterial hypertension, Brachycephaly, Sensorineural hearing impairment, Spontaneous, re...	ORPHA:2072
Adams-Oliver Syndrome 1	Pulmonary arterial hypertension, Cleft upper lip, Encephalocele, Ventricular septal defect, Bicus...	OMIM:100300
Isolated Anencephaly	Maternal diabetes, Congenital diaphragmatic hernia, Cleft lip, Thymus hyperplasia, Adrenal hypopl...	ORPHA:563609
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Flexion contracture, Delayed eruption of teeth, Bifid uvula, Camptodactyly, Abnormality...	ORPHA:261537
Tay-Sachs Disease	Exaggerated startle response, Aspiration	OMIM:272800
Smith-Mccort Dysplasia 1	Hypoplastic facial bones	OMIM:607326
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Glossitis, Stomatitis, Abnormal heart morphology, Cleft palate, Intraventri...	ORPHA:79284
Alpha-Mannosidosis, Adult Form	Pneumonia, Macroglossia, Mixed hearing impairment, Optic disc pallor	ORPHA:309288
Autosomal Recessive Cutis Laxa Type 1	Respiratory insufficiency, Delayed cranial suture closure, Downslanted palpebral fissures, Pneumo...	ORPHA:90349
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta, Wide anterior fontanel, Short metacarpal, Decreased calvarial ossifica...	OMIM:610915
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia, Aspiration	OMIM:272750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Short nasal bridge, Optic atrophy, EEG abnormality, Micrognathia, Midface retrusion, Everted lowe...	OMIM:253280
Autosomal Dominant Cutis Laxa	Dilatation of the ventricular cavity, Bronchiectasis, Aortic aneurysm, Small bowel diverticula, R...	ORPHA:90348
Lipoid Proteinosis	High palate, Tongue nodules, Thick lower lip vermilion, Abnormal oral mucosa morphology, Microglo...	ORPHA:530
Developmental Delay, Hypotonia, And Impaired Language	Recurrent pneumonia, Mixed hearing impairment	OMIM:620012
Alagille Syndrome 1	Macrotia, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Renal artery ste...	OMIM:118450
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Congenital sensorineural hearing impairment, Mixed hearing impairment	ORPHA:2698
Geleophysic Dysplasia 2	Respiratory insufficiency, Pulmonary arterial hypertension, Short foot, Long philtrum, Short nose...	OMIM:614185
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Asthma, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Au...	OMIM:102700
Classical Ehlers-Danlos Syndrome	Aortic root aneurysm, Umbilical hernia, Mitral valve prolapse, Arterial dissection, Arteriovenous...	ORPHA:287
Aicardi Syndrome	Prominence of the premaxilla, Protruding ear	ORPHA:50
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Optic disc pallor, Optic atrophy	ORPHA:320406
Multiple Endocrine Neoplasia Type 2	Proximal amyotrophy, Ganglioneuromatosis, Parathyroid adenoma, Aganglionic megacolon, Parathyroid...	ORPHA:653
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure, Buphthalmos, Microphthalmia	OMIM:616538
Neuroocular Syndrome	Retrognathia, Patent foramen ovale, Widely spaced teeth, Ankyloglossia, Submucous cleft hard pala...	OMIM:619539
Carney Complex	Precocious puberty, Esophageal neoplasm, Neoplasm of the pancreas, Follicular thyroid carcinoma, ...	ORPHA:1359
Acromesomelic Dysplasia 1	Short toe, Short metacarpal, Hypoplasia of the radius, Short nose, Frontal bossing, Limited elbow...	OMIM:602875
T-Cell Immunodeficiency With Thymic Aplasia	T lymphocytopenia, Bronchiectasis, Lymphopenia, Abnormally low T cell receptor excision circle le...	OMIM:242700
Townes-Brocks Syndrome 1	Hypothyroidism, Lop ear, Satyr ear, Ventricular septal defect, Overfolding of the superior helice...	OMIM:107480
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Hypermobile Ehlers-Danlos Syndrome	Gingivitis, Joint dislocation, Epicanthus, Microdontia, Osteoarthritis, Keratoconjunctivitis sicc...	ORPHA:285
Stüve-Wiedemann Syndrome	Camptodactyly of finger, Hypothyroidism, Knee flexion contracture, Flexion contracture, Asthma, A...	ORPHA:3206
Dyggve-Melchior-Clausen Disease	Hypoplastic facial bones, Mandibular prognathia	OMIM:223800
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Brachycephaly, Disproportionate shortening of the tibia, Short ribs, Median cleft lip, Microgloss...	OMIM:263520
Plummer-Vinson Syndrome	Esophageal web, Tongue atrophy, Glossitis, Hypochromic microcytic anemia, Narrow mouth, Intra-ora...	ORPHA:54028
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Knee flexion contracture, Sensorineural hearing impairment, Microdontia, Elbow flexion contractur...	OMIM:148210
Hereditary Mucoepithelial Dysplasia	Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue	ORPHA:1839
Peroxisome Biogenesis Disorder 4B	Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Short nose	OMIM:614863
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:192445
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Sandhoff Disease	Orthostatic hypotension, Exaggerated startle response, Macroglossia	OMIM:268800
Holoprosencephaly 2	Diabetes insipidus, Absent nasal septal cartilage, Bifid uvula, Submucous cleft hard palate, Midf...	OMIM:157170
Molybdenum Cofactor Deficiency, Complementation Group B	Long philtrum, Frontal bossing, Short nose, Opisthotonus, Thick vermilion border	OMIM:252160
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Genu valgum, Convex nasal ridge, Cleft soft palate, Optic atrophy, Short nose, Optic nerve hypopl...	OMIM:619321
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Trigonocephaly	OMIM:300607
Molybdenum Cofactor Deficiency, Complementation Group A	Long philtrum, Frontal bossing, Short nose, Opisthotonus, Thick vermilion border	OMIM:252150
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Megaloblastic anemia, Anisopoikilocytosis, Glossitis, Reticulocytosis, Pancyto...	ORPHA:35858
Deafness, Autosomal Recessive 88	Mixed hearing impairment	OMIM:615429
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Malabsorption, Glossitis, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy	OMIM:175500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Hereditary Folate Malabsorption	Megaloblastic anemia, Glossitis, Pancytopenia, Skeletal muscle atrophy, Eosinophilia, Thrombocyto...	ORPHA:90045
Norrie Disease	Buphthalmos, Sensorineural hearing impairment, Microphthalmia, Optic atrophy	OMIM:310600
Microsporidiosis	Lymphadenitis, Endocarditis, Rhinitis, Thyroiditis, Glossitis, Myositis, Sinusitis, Adrenocortica...	ORPHA:2552
Aspartylglucosaminuria	Brachycephaly, Hypoplastic frontal sinuses, Wide mouth, Thick lower lip vermilion, Macroglossia, ...	OMIM:208400
Bazex Syndrome	Furrowed tongue	OMIM:301845
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Duodenal atresia, Aplasia of the thymus	ORPHA:3004
Aicardi Syndrome	Prominence of the premaxilla	OMIM:304050
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Psoriasis 14, Pustular	Furrowed tongue, Leukocytosis, Neutrophilia, Geographic tongue	OMIM:614204
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Cowden Syndrome	Colorectal polyposis, High palate, Enlarged polycystic ovaries, Adenoma sebaceum, Macroglossia, N...	ORPHA:201
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cleft upper lip, Macroglossia, Buphthalmos, Microphthalmia, Cleft palate	OMIM:613150
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, EEG with focal spike waves	ORPHA:370997
Hartnup Disease	Malabsorption, Gingivitis, Glossitis	ORPHA:2116
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Anemia, Distal lower limb amyotrophy, Oral mucosal blisters, Smooth tongue	ORPHA:79396
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Patent ductus arteriosus, Persistent cloaca	ORPHA:1112
Odontoonychodermal Dysplasia	Hypodontia, Widely spaced primary teeth, Agenesis of permanent teeth, Smooth tongue, Conical inci...	OMIM:257980
Tetrasomy 9P	Juxtaductal coarctation of the aorta, Patent foramen ovale, Abnormal mitral valve morphology, Abn...	ORPHA:3310
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Plague	Lymphadenitis, Endocarditis, Splenomegaly, Enterocolitis, Glossitis, Respiratory distress, Inflam...	ORPHA:707
Glucagonoma	Acanthocytosis, Increased circulating prolactin concentration, Parathyroid adenoma, Increased cir...	ORPHA:97280
Acrodermatitis Enteropathica	Malabsorption, Glossitis, Furrowed tongue, Abnormality of the tongue, Cheilitis	ORPHA:37
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormality of dental morphology, Recurrent pneumonia, Anoperineal fistula, Abnormal tongue morph...	ORPHA:158668
Axenfeld-Rieger Syndrome, Type 1	Decreased response to growth hormone stimulation test, Hypodontia, Microdontia, Oligodontia, Shor...	OMIM:180500
Glaucoma 3, Primary Congenital, A	Buphthalmos	OMIM:231300
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cleft upper lip, Bifid tongue, Anal atresia, Intestinal malrotation, Cleft palate, Hamartoma of t...	OMIM:613091
Chand Syndrome	Bifid tongue, Commissural lip pit, Abnormal oral frenulum morphology, Agenesis of permanent teeth...	ORPHA:1401
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi	ORPHA:91495
Penile Agenesis	Depressed nasal bridge, Posteriorly rotated ears, Short nose	ORPHA:49
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Respiratory insufficiency, Cleft upper lip, Bifid tongue, Long philtrum, Ectopic anus, Esophageal...	ORPHA:93271
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla	OMIM:300106
Pachyonychia Congenita 3	Furrowed tongue, Gingivitis, Chapped lip, Oral leukoplakia	OMIM:615726
Cystic Fibrosis	Pneumothorax, Bronchiectasis, Asthma, Airway obstruction, Sinusitis, Reduced forced expiratory vo...	ORPHA:586
Sturge-Weber Syndrome	Buphthalmos	OMIM:185300
Migraine With Or Without Aura, Susceptibility To, 1		OMIM:157300

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 Ednra

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 Ednra.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development.	Journal of dental research (March 2019)	Ednra^{tm1b(EUCOMM)Hmgu}	30905259

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MGI Allele	Allele Type	Produced
Ednra^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Ednra^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Ednra^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

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: Ednra MGI:105923

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

X-ray

Adult LacZ

X-ray

Embryo LacZ

MicroCT E18.5

X-ray

Gross Morphology Embryo E18.5

Auditory Brain Stem Response

Human diseases caused by Ednra mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data