Gene Summary

Name:
endothelin receptor type A
Synonyms:
ETa,  Gpcr10,  AEA001,  ET-AR,  Mhdaaea1

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Ednratm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal facial morphology Ednratm1b(EUCOMM)Hmgu HOM E18.5 0.00
abnormal craniofacial morphology Ednratm1b(EUCOMM)Hmgu HOM E12.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  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 0.71% (4 of 564)
aorta 0.18% (1 of 557)
brain 0.87% (5 of 574)
brainstem 0.36% (2 of 556)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 561)
cerebellum 0.54% (3 of 554)
cerebral cortex 0.18% (1 of 560)
epididymis 13.48% (19 of 141)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 564)
hippocampus 0.36% (2 of 558)
hypothalamus 0.35% (2 of 565)
kidney 4.61% (26 of 564)
large intestine 5.58% (31 of 556)
liver 0.0%
lower urinary tract 0.18% (1 of 560)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 557)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.36% (2 of 554)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.87% (5 of 574)
peripheral nervous system 0.35% (2 of 569)
peyers patch 0.0%
pituitary gland 0.18% (1 of 558)
prostate gland 1.96% (11 of 561)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 5.65% (31 of 549)
spinal cord 0.36% (2 of 558)
spleen 0.36% (2 of 550)
stomach 3.74% (21 of 561)
striatum 0.53% (3 of 563)
submandibular gland 1.49% (2 of 134)
testis 1.08% (6 of 553)
thalamus 0.0%
thymus 0.18% (1 of 553)
thyroid gland 3.18% (18 of 566)
trachea 0.54% (3 of 557)
urinary bladder 0.0%
uterus 0.35% (2 of 566)
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 1.18% (6 of 510)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 510)
embryo 0.39% (2 of 511)
eye 0.2% (1 of 510)
footplate 0.2% (1 of 510)
forebrain 0.2% (1 of 510)
forelimb 0.2% (1 of 510)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 510)
head 0.98% (5 of 510)
heart 0.2% (1 of 510)
hindbrain 1.18% (6 of 510)
hindlimb 0.2% (1 of 510)
liver 0.2% (1 of 505)
lung 0.2% (1 of 505)
mandibular process 0.2% (1 of 510)
maxillary process 0.2% (1 of 510)
midbrain 0.2% (1 of 510)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 505)
skin 0.2% (1 of 510)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 510)
tail somite group 0.2% (1 of 510)

Associated Images

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

MicroCT E18.5

Embryo reconstruction

6 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

37 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Morphology Embryo E18.5

Images

3 Images

Auditory Brain Stem Response

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

8 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Sparse eyelashes, Stenosis... OMIM:616367
Cystic Fibrosis
Malabsorption 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 Similarity of
phenotypes
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, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... OMIM:128980
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Supernumerary tooth, Micrognathia, ... ORPHA:3145
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Maxillozygomatic hypoplasia, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Malar ... ORPHA:2972
Auriculocondylar Syndrome 2
Cleft at the superior portion of the pinna, Apnea, Abnormal pinna morphology, Dental malocclusion... OMIM:614669
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Catel-Manzke Syndrome
High palate, Cleft upper lip, Abnormal pinna morphology, Low-set ears, Cleft palate, Glossoptosis... OMIM:616145
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Thymic Aplasia With Fetal Death
Truncus arteriosus OMIM:274210
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Craniometadiaphyseal Dysplasia
High palate, Wide anterior fontanel, Absent paranasal sinuses, Malar flattening, Abnormally large... OMIM:269300
X-Linked Mandibulofacial Dysostosis
High palate, Sensorineural hearing impairment, Conductive hearing impairment, Protruding ear, Abn... ORPHA:1131
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, High palate, Protruding ear, Atrial septal defect, Cryptorchidism,... ORPHA:3304
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... ORPHA:3232
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Narrow mouth, Low-set, posteriorly rotated ears, Carious teeth, Hypop... ORPHA:1110
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Gingival overgrowth, Depressed nasal ridge, Retrognathia, Delayed cranial s... ORPHA:1832
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
Conductive hearing impairment, External ear malformation, Facial paralysis, Abnormality of the st... OMIM:124490
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Attached earlobe, Depressed nasal bridge, Short nose, Mandibular prognathia, Midface... ORPHA:1327
Diabetic Embryopathy
Abnormality of the neck, Cleft palate, Microtia, Micrognathia, Aplasia/Hypoplasia of the abdomina... ORPHA:1926
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Delayed eruption of primary teeth, Multiple non-er... OMIM:273050
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Cleft palate, Broad nasal tip, Short philtrum, Athetosis, Short nose, Tented upper lip vermilion,... OMIM:239300
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Webbed neck, Hydranencephaly, Truncus arteriosus OMIM:601355
Emanuel Syndrome
High palate, Cleft palate, Ventricular septal defect, Anal atresia, Micrognathia, Long philtrum, ... OMIM:609029
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Bulbous nose, Overfolded helix, Broad nasal tip, Depressed nasal bridge, Retrognathi... OMIM:613792
Lessel-Kreienkamp Syndrome
Dental malocclusion, Plagiocephaly, Upslanted palpebral fissure, Overfolded helix, Wide cranial s... OMIM:619149
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short neck, Ventricular septal defect, Webbed neck, Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Mcdonough Syndrome
Dental malocclusion, Protruding ear, Short palpebral fissure, Open bite, Cachexia, Micrognathia, ... ORPHA:2471
Rubinstein-Taybi Syndrome 2
High palate, Posterior helix pit, Dental malocclusion, Narrow palate, Convex nasal ridge, Retrogn... OMIM:613684
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Long nose, Delayed eruption of teeth, Downsla... OMIM:257850
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Conductive hearing impairment, Everted lower lip vermilion, Pulmonic stenosis, Anter... OMIM:617877
Seckel Syndrome 1
High palate, Abnormal pinna morphology, Cleft palate, 11 pairs of ribs, Downslanted palpebral fis... OMIM:210600
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Sensorineural hearing impairment, High palate, Plagiocephaly, Decreased body weight, Abnormally l... OMIM:300749
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Branchial fistula, Tracheoes... ORPHA:861
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Fetal Trimethadione Syndrome
High palate, Abnormal helix morphology, Atrial septal defect, Overfolded helix, Micrognathia, Tet... ORPHA:1913
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Auriculocondylar Syndrome 1
Cleft at the superior portion of the pinna, Apnea, Dental malocclusion, Narrow mouth, Cleft palat... OMIM:602483
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Micrognathia, Tetralogy of Fallot, Ventricular septal defec... ORPHA:1727
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal pinna morphology, Hypoplastic left heart, Thickened nucha... OMIM:618164
Pierpont Syndrome
Broad nasal tip, Short nose, Microphthalmia, Midface retrusion, Decreased body weight, Prominent ... OMIM:602342
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Bulbous nose, Micrognathia, Prominent metopic ridge, Bifid nose, Bifid nasal tip, Brachycephaly, ... OMIM:275595
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Ventricular septal defect, Midface retrusion, Thick lower lip vermi... OMIM:179613
17Q21.31 Microduplication Syndrome
High palate, Failure to thrive, Thick eyebrow, Malar flattening, Micrognathia, Abnormality of the... ORPHA:217340
Myopathy, Congenital, Bailey-Bloch
High palate, Conductive hearing impairment, Short palpebral fissure, Cleft palate, Micrognathia, ... OMIM:255995
Non-Distal Trisomy 10Q
High palate, Convex nasal ridge, Everted lower lip vermilion, Micrognathia, Depressed nasal bridg... ORPHA:1695
Bent Bone Dysplasia Syndrome 1
Gingival overgrowth, Short clavicles, Malar flattening, Coronal craniosynostosis, Micrognathia, A... OMIM:614592
Larsen-Like Syndrome
Conductive hearing impairment, Wide anterior fontanel, Dental malocclusion, Joint dislocation, Ma... OMIM:608545
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Carpenter Syndrome 1
High palate, Abnormal pinna morphology, Short neck, Optic atrophy, Ventricular septal defect, Hyp... OMIM:201000
Adenylosuccinate Lyase Deficiency
Brachycephaly, Prominent metopic ridge, Long philtrum, Short nose, Flat occiput, Anteverted nares... ORPHA:46
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Abnormal pinna morphology, Micrognathia, Respiratory insufficiency, Neonatal death, Ventricular s... OMIM:228940
Blepharophimosis-Impaired Intellectual Development Syndrome
Wide mouth, Sparse eyebrow, Short philtrum, Microdontia, Long eyelashes, Short distal phalanx of ... OMIM:619293
8P23.1 Microdeletion Syndrome
High palate, Low-set ears, Abnormal cardiac septum morphology, Cryptorchidism, Congenital diaphra... ORPHA:251071
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Abnormal pinna morphology, Bicuspid aortic valve, Atrial septal de... ORPHA:477817
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Retrognathia, Depressed nasal bridge, Epicanthus, Short nose, Pneumonia, Anteverted ... OMIM:614069
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Intellectual Developmental Disorder, Autosomal Dominant 26
Wide mouth, Narrow mouth, Prominent nasal tip, Thick eyebrow, Short palpebral fissure, Upslanted ... OMIM:615834
Branchiooculofacial Syndrome
Malrotation of colon, Cleft palate, Overfolded helix, Abnormality of the dentition, Short neck, P... OMIM:113620
Emanuel Syndrome
High palate, Multiple joint contractures, Cleft palate, Delayed eruption of teeth, Ventricular se... ORPHA:96170
Pyknoachondrogenesis
Stillbirth OMIM:265880
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Craniosynostosis And Dental Anomalies
High palate, Dental malocclusion, Stapes ankylosis, Narrow palate, Supernumerary tooth, Conductiv... OMIM:614188
Pierpont Syndrome
Uplifted earlobe, Short toe, Brachycephaly, Microphthalmia, Long upper lip, Malar flattening, Sma... ORPHA:487825
Potocki-Lupski Syndrome
High palate, Sleep apnea, Failure to thrive, Dental malocclusion, Wide mouth, EEG abnormality, Pr... OMIM:610883
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Trisomy 18-Like Syndrome
Abnormal pinna morphology, Micrognathia, Telecanthus, Narrow palpebral fissure, Low-set ears, Ble... OMIM:601161
Mental Retardation, Buenos Aires Type
High palate, Failure to thrive, Protruding ear, Dental malocclusion, Wide mouth, Curly eyelashes,... OMIM:249630
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Narrow mouth, Abnormality of cartilage of exte... ORPHA:3426
Velocardiofacial Syndrome
Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, Umb... OMIM:192430
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Maxillonasal Dysplasia, Binder Type
Large earlobe, Dental malocclusion, Short distal phalanx of finger, Depressed nasal bridge, Short... OMIM:155050
Muenke Syndrome
Sensorineural hearing impairment, Dental malocclusion, High palate, Plagiocephaly, Capitate-hamat... OMIM:602849
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Micrognathia, Low-set, posteriorly rotated ears, Epicanthus, Short nose, Anteverted... ORPHA:2015
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Truncus arteriosus, Ab... ORPHA:401935
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Optic atrophy, Hearing impairment, Broad jaw, Thickened calvaria, Facial palsy,... ORPHA:178377
Lethal Congenital Contracture Syndrome 10
Torticollis, High palate, Narrow palate, Overriding aorta, Micrognathia, Hypoplasia of the thymus... OMIM:617022
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Everted lower lip vermilion, Micrognathia, Long philtrum, Low-set, pos... ORPHA:261120
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Hypoplasia of the zygomatic bone ORPHA:3074
Achondroplasia
Conductive hearing impairment, Malar flattening, Depressed nasal bridge, Genu varum, Limited elbo... OMIM:100800
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Malar flattening, Hypoplasia of the zygomatic bone ORPHA:2835
Ciliary Dyskinesia, Primary, 40
Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs inversus totalis, ... OMIM:618300
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Van Maldergem Syndrome 2
High palate, Short fourth metatarsal, Hypoplasia of the maxilla, Tented upper lip vermilion, Midf... OMIM:615546
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
High palate, Conductive hearing impairment, Microtia, Upslanted palpebral fissure, Micrognathia, ... OMIM:248910
Auriculocondylar Syndrome
Respiratory distress, Abnormal pinna morphology, Abnormality of the crus of the helix, Cleft pala... ORPHA:137888
Holoprosencephaly
Abnormal antihelix morphology, Short neck, Optic atrophy, Ventricular septal defect, Median cleft... ORPHA:2162
Crouzon Syndrome
Conductive hearing impairment, Narrow palate, Convex nasal ridge, Respiratory insufficiency, Midf... ORPHA:207
Treacher Collins Syndrome 4
Conductive hearing impairment, Malar flattening, Cleft palate, Micrognathia, Respiratory failure ... OMIM:618939
Frank-Ter Haar Syndrome
High palate, Wide mouth, Broad nasal tip, Depressed nasal bridge, Downslanted palpebral fissures,... OMIM:249420
Fibromuscular Dysplasia, Arterial
Aortic dissection, Stroke, Arterial fibromuscular dysplasia OMIM:135580
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal antihelix morphology, Cleft palate, Overfolded helix, Underdeveloped tragus, Short nose,... ORPHA:79113
Van Maldergem Syndrome 1
High palate, Short fourth metatarsal, Hypoplasia of the maxilla, Tented upper lip vermilion, Midf... OMIM:601390
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... ORPHA:477781
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Hemifacial Atrophy, Progressive
Dental malocclusion, Short mandibular rami, Microtia, Delayed eruption of teeth, Horner syndrome,... OMIM:141300
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Malar flattening, Craniosynostosis, Microtia, Micrognathia, Thin vermilion border, Depressed nasa... ORPHA:171839
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Wide mouth, Low-set ears, Macroglossia, Everted lower lip vermilion, Short neck, Macrotia, Transp... OMIM:616789
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Epicanth... ORPHA:90646
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Malar flattening, Attached earlobe, Upslanted palpebral fissure, Micrognathi... ORPHA:436245
Alpha-Mannosidosis
Dental malocclusion, Gingival overgrowth, Narrow palate, Abnormal helix morphology, Macroglossia,... ORPHA:61
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Cleft palate, Craniosynostosis, Depressed nasal bridge, 11 pairs of ribs, Microdontia, Radioulnar... OMIM:245600
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Chromosome 9P Deletion Syndrome
High palate, Narrow mouth, Narrow palate, Atrial septal defect, High, narrow palate, Malar flatte... OMIM:158170
Craniosynostosis 3
Dental malocclusion, Sagittal craniosynostosis, Right unicoronal synostosis, Left unicoronal syno... OMIM:615314
Cohen Syndrome
Sensorineural hearing impairment, Gingival overgrowth, Tooth agenesis, Neutropenia, Aplasia/Hypop... ORPHA:193
Flat Face-Microstomia-Ear Anomaly Syndrome
Abnormal antihelix morphology, Narrow mouth, High, narrow palate, Malar flattening, Micrognathia,... ORPHA:1968
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Low-set ears, Tooth agenesis, Micrognathia, Camptodactyly of finger, D... ORPHA:2863
Sandestig-Stefanova Syndrome
High palate, Angulated antihelix, Muscular ventricular septal defect, Retrognathia, Short neck, O... OMIM:618804
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Thickened helices, Narrow mouth, Tooth agenesis, Narrow palate, Malar flatt... ORPHA:1555
Coffin-Siris Syndrome 6
Conductive hearing impairment, Plagiocephaly, High, narrow palate, Cleft palate, Retrognathia, Mi... OMIM:617808
Congenital Disorder Of Glycosylation, Type Ih
Low-set ears, Anemia, Short neck, Long philtrum, Neonatal death, Camptodactyly, Hypothyroidism, P... OMIM:608104
Otofacioosseous-Gonadal Syndrome
Sensorineural hearing impairment, Carpal synostosis, Protruding ear, Malar flattening, Depressed ... OMIM:601976
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly, Bulbous nose, Upslanted palpebral fissure, Micrognathia, Depressed nasal bridge, L... OMIM:615761
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Pycnodysostosis
High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ... ORPHA:763
Cornelia De Lange Syndrome 5
High palate, Cleft palate, Broad nasal tip, Depressed nasal bridge, Long eyelashes, Retrognathia,... OMIM:300882
Zechi-Ceide Syndrome
Short distal phalanx of finger, Conductive hearing impairment, Abnormal helix morphology, Short p... ORPHA:217017
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Thick eyebrow, Tooth malposition, Upslanted palpebral fissure, Micrognathia, Short 5th finger, He... OMIM:618608
Stankiewicz-Isidor Syndrome
Low-set ears, Retrognathia, Micrognathia, Ventricular septal defect, Hearing impairment, Patent d... OMIM:617516
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Weakness of facial musculature, Foot dorsiflexor weakness, Wrist flexion contracture, Weakness of... OMIM:619519
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Oxycephaly, Cleft palate, Cranio... OMIM:201050
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Prominent nose, Synophrys, Macrotia, Anteverted ears OMIM:615541
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Failure to thrive, Dental malocclusion, Anodontia, Supernumerary tooth, Narrow palat... OMIM:264475
Cebalid Syndrome
High palate, Abnormal pinna morphology, Plagiocephaly, Thick eyebrow, Depressed nasal ridge, Plat... OMIM:618774
Acrootoocular Syndrome
Delayed eruption of teeth, Pseudopapilledema, Downslanted palpebral fissures, Wide nasal base, Hi... ORPHA:2980
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Chronic sinusitis, Polysplenia, Respirator... ORPHA:244
Deafness, X-Linked 2
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... OMIM:304400
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Double aortic arch, Tetralogy of Fallot, Ventricular sept... ORPHA:95430
Intellectual Developmental Disorder, Autosomal Recessive 73
Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Widely spaced teeth, Patent ... OMIM:619717
Distal 17P13.1 Microdeletion Syndrome
Retrognathia, Protruding ear, Hypoplasia of the zygomatic bone ORPHA:319171
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Ath... ORPHA:231160
Charge Syndrome
Abnormal cardiac septum morphology, Cleft palate, Overfolded helix, Tracheoesophageal fistula, De... ORPHA:138
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
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect OMIM:618496
Microphthalmia, Syndromic 9
Low-set ears, Atrial septal defect, Congenital diaphragmatic hernia, Multilobulated spleen, Pulmo... OMIM:601186
Chromosome 16Q22 Deletion Syndrome
Sensorineural hearing impairment, Low-set ears, Wide anterior fontanel, Failure to thrive, High p... OMIM:614541
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Atrial septal defect, Vascular ring OMIM:603387
Nager Syndrome
Microtia, Micrognathia, Low-set, posteriorly rotated ears, Hypoplasia of the zygomatic bone, Atre... ORPHA:245
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... ORPHA:83451
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Dental malocclusion, Anal atresia, Velopharyngeal insufficiency, Atria... ORPHA:363444
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Dental malocclusion, Widely patent fontanelles and sutures, Malar flattening, Everted lower lip v... OMIM:603463
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Sweeney-Cox Syndrome
High palate, Wide anterior fontanel, Narrow mouth, Short clavicles, Cleft palate, Microtia, Overf... OMIM:617746
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Sensorineural hearing impairment, Conductive hearing impairment, Plagiocephaly, Malar flattening,... OMIM:618672
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Facial diplegia, Decreased sensory nerve conduction velocity, Decreased motor nerve ... OMIM:218000
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Facial Paresis, Hereditary Congenital, 3
Sensorineural hearing impairment, Micrognathia, Facial palsy, Depressed nasal bridge, Midface ret... OMIM:614744
Conductive Deafness-Malformed External Ear Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... ORPHA:3216
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Dental malocclusion, Fatigable weakness, Mandibular prognathia, Facial palsy, Respir... OMIM:608931
Cleidocranial Dysplasia
Sleep apnea, Sinusitis, Supernumerary tooth, High, narrow palate, Cleft palate, Open bite, Glosso... ORPHA:1452
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch OMIM:617577
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Atrial septal defect, Cleft palate, Thin vermilion border, Long philtrum, Coarctati... OMIM:615502
Toluene Embryopathy
Micrognathia, Low-set ears, Protruding ear, Hypoplasia of the zygomatic bone ORPHA:1920
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Micrognathia, Depressed nasal bridge, Brachyturricep... OMIM:613849
Symphalangism, Proximal, 1A
Stapes ankylosis, Conductive hearing impairment, Carpal synostosis, Proximal symphalangism of han... OMIM:185800
Gomez-Lopez-Hernandez Syndrome
High palate, Wide anterior fontanel, Malar flattening, Craniosynostosis, Thin vermilion border, W... OMIM:601853
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Atrial septal defect, Decreased response to growth h... OMIM:220210
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Low-set ears, Protruding ear, Hypoplasia of the zygomatic bone ORPHA:1778
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Low-set ears, Atrial septal defect, Tetralogy of Fallot, Pulmonary... OMIM:618316
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Horizontal eyebrow, Short nose, Op... ORPHA:369891
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Protruding ear, Tooth agenesis, Congenital diaphragmatic hernia, Cleft palate, Abnormality of low... ORPHA:1166
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Hallermann-Streiff Syndrome
High palate, Sparse eyebrow, Thin calvarium, Optic disc coloboma, Downslanted palpebral fissures,... OMIM:234100
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Retrognathia, Hypogonadotr... OMIM:147770
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... ORPHA:3384
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
20Q11.2 Microduplication Syndrome
Depressed nasal bridge, Downslanted palpebral fissures, Short nose, Tented upper lip vermilion, M... ORPHA:363659
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Cleft palate, Radioulnar synostosis, Short nose, Enamel agenesis, Thick eyebrow, Long philtrum, A... OMIM:614701
Frontonasal Dysplasia 1
Conductive hearing impairment, Median cleft palate, Joint contracture of the hand, Broad nasal ti... OMIM:136760
Clark-Baraitser Syndrome
Large earlobe, High palate, Wide mouth, Brachycephaly, Low hanging columella, Upslanted palpebral... OMIM:617752
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sparse eyebrow, Sparse eyelashes, Craniosynostosis, Micrognathia, Abnormality of the dentition, D... OMIM:616901
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... OMIM:609129
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Triangular mouth, Cleft palate, Abnormality of the dentition, Depressed nasal bridge,... OMIM:616331
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Wide mouth, Brachycephaly, Slender nose, Micrognathia, Decreased motor nerve conduction velocity,... OMIM:615419
Weiss-Kruszka Syndrome
Horizontal crus of helix, Low-set ears, Protruding ear, Bicuspid aortic valve, Microtia, Overfold... OMIM:618619
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
High palate, Bulbous nose, Micrognathia, Downslanted palpebral fissures, Epicanthus, Hearing impa... OMIM:613604
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Narrow mouth, Lacrimal duct atresia, Aplasia/Hypoplasia involvi... ORPHA:1529
Potocki-Shaffer Syndrome
Parietal foramina, Short philtrum, Wormian bones, Downslanted palpebral fissures, Epicanthus, Tel... OMIM:601224
Craniodiaphyseal Dysplasia
Conductive hearing impairment, Stenosis of the external auditory canal, Depressed nasal bridge, W... ORPHA:1513
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Sensorineural hearing impairment, Malar flattening, Patent ductus arteriosus, Low-set ears, Midfa... OMIM:122430
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Convex nasal ridge, Malar flattening, Respiratory insufficiency, O... ORPHA:93262
Short Syndrome
Sensorineural hearing impairment, Dental malocclusion, Hypodontia, Small for gestational age, Mic... OMIM:269880
Variant Abeta2M Amyloidosis
Abnormality of the tongue, Cardiac amyloidosis, Abnormal autonomic nervous system physiology, Amy... ORPHA:314652
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft upper lip, Atrial septal defect, Secundum atrial septal defect, Cleft palate, Coarctation o... OMIM:600987
Osteopathia Striata-Cranial Sclerosis Syndrome
Cleft palate, Delayed eruption of teeth, High, narrow palate, Retrognathia, Micrognathia, Flat oc... ORPHA:2780
Aminopterin Syndrome Sine Aminopterin
High palate, Decreased body weight, Joint contracture of the hand, Cleft palate, Micrognathia, Ol... OMIM:600325
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Adams-Oliver Syndrome 6
Ventricular septal defect, Truncus arteriosus OMIM:616589
Acitretin/Etretinate Embryopathy
High palate, Median cleft palate, Microtia, Atrioventricular canal defect, Micrognathia, Hypoplas... ORPHA:40366
Microcephalic Primordial Dwarfism, Montreal Type
Retrognathia, Convex nasal ridge, Abnormally large globe, Ptosis OMIM:210700
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Narrow mouth, Upslanted palpebral fissure, Retrognathia, Epicanthus, Microphthalmia,... ORPHA:2528
X-Linked Intellectual Disability, Sutherland-Haan Type
Decreased body weight, Small for gestational age, Upslanted palpebral fissure, Hypoplasia of the ... ORPHA:93950
Cleft Lip/Palate
Conductive hearing impairment, Dental malocclusion, Velopharyngeal insufficiency, Abnormal number... ORPHA:199306
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Wide anterior fontanel, Cleft palate, Anterior plagiocephaly, Micrognathia, Long pal... ORPHA:163649
Saethre-Chotzen Syndrome
Narrow palate, Cleft palate, Malar flattening, Cleft of chin, Microtia, Prominent crus of helix, ... OMIM:101400
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Short toe, Short metacarpal, Cleft palate, Coronal craniosynostosis, Micrognathia, ... OMIM:614078
Catel-Manzke Syndrome
Atrial septal defect, Cleft palate, Malar flattening, Glossoptosis, Micrognathia, Camptodactyly o... ORPHA:1388
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Hypoplasia of the maxilla, Malar flattening OMIM:122880
Treacher Collins Syndrome 3
Conductive hearing impairment, Malar flattening, Microtia, Cleft palate, Micrognathia, Downslante... OMIM:248390
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Abnormal oral cavity morphology, Stenosis of the external auditory canal, Micrognathia, Short phi... ORPHA:1516
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Ververi-Brady Syndrome
High palate, Wide mouth, Everted lower lip vermilion, Cupped ear, Transposition of the great arte... OMIM:617982
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Cleft palate, Craniosynostosis, Proximal radio-ulnar synostosis, D... ORPHA:794
Severe Oculo-Renal-Cerebellar Syndrome
Large earlobe, Malar prominence, Hypoplasia of the zygomatic bone, Macrotia, Mandibular prognathia ORPHA:2715
Kabuki Syndrome 2
High palate, Cleft palate, Broad nasal tip, Depressed nasal tip, Long eyelashes, Sparse lateral e... OMIM:300867
Craniosynostosis, Herrmann-Opitz Type
Abnormal antihelix morphology, Convex nasal ridge, Malar flattening, Craniosynostosis, Microtia, ... ORPHA:2145
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormality of the ear, Malar flattening, Delayed cranial suture closure, Narrow nasal bridge, He... ORPHA:2511
Crouzon Syndrome
Conductive hearing impairment, Sleep apnea, Coronal craniosynostosis, Shallow orbits, Atresia of ... OMIM:123500
Pierre Robin Syndrome
Cleft palate, Glossoptosis, Micrognathia, Cor pulmonale, Upper airway obstruction, Neonatal respi... OMIM:261800
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Branchial fistula, Mixe... OMIM:609166
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Atrial septal defect, Aplasia/Hypoplasia of the tongue, Cleft palate, Maxillozygoma... ORPHA:1790
Distal 22Q11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Narrow mouth, Atrial septal defect, High, narrow palate, Cleft ... ORPHA:261330
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Abnormal pinna morphology, Craniosynostosis, Shallow orbits, Brachyturricephaly, Dow... OMIM:182212
Marcus-Gunn Syndrome
Cleft palate, Cleft lip, Abnormal fifth cranial nerve morphology, Abnormal ear morphology, Abnorm... ORPHA:91412
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Conductive hearing impairment, Trigonocephaly, Malar flattening, Upslanted ... OMIM:610536
Auriculocondylar Syndrome 3
Stenosis of the external auditory canal, Micrognathia, Retrognathia, Glossoptosis, Bilateral cond... OMIM:615706
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
High palate, Dental malocclusion, Downslanted palpebral fissures, Epicanthus, Anteverted nares, M... OMIM:618292
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy, Tr... OMIM:615415
Cortical Blindness, Retardation, And Postaxial Polydactyly
Frontal bossing, Long philtrum, Short nose, Microretrognathia OMIM:218010
Momo Syndrome
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Short sternum, Long phi... ORPHA:2563
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Sleep apnea, Sparse eyebrow, Cleft palate, Small hand, Micrognathia, Depressed nasal bridge, Down... ORPHA:459061
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, U-Shaped upper lip vermilion, Scaphocephaly, Cleft palate, Dolichocephal... OMIM:300209
Acrofacial Dysostosis, Catania Type
Tooth agenesis, Microretrognathia, Cryptorchidism, Abnormality of the dentition, Preauricular pit... ORPHA:1786
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Conductive hearing impairment, Narrow nasal bridge, Atresia of... ORPHA:3236
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Short palpebral fissure, Abnormally large globe, Downslanted palpebral fissures, Sh... OMIM:611936
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Short sternum, Long philtrum, Delayed eruption of ... OMIM:157980
Chromosome 16P13.3 Duplication Syndrome
Protruding ear, Bulbous nose, Short toe, Malar flattening, Upslanted palpebral fissure, Short nos... OMIM:613458
Acrocardiofacial Syndrome
Cleft upper lip, Anal atresia, Low-set ears, Mitral stenosis, Atrial septal defect, Cleft palate,... ORPHA:2008
Perlman Syndrome
High, narrow palate, Retrognathia, Micrognathia, Dolichocephaly, Wide nasal bridge, Abnormality o... ORPHA:2849
Acrocraniofacial Dysostosis
Abnormal pinna morphology, Cleft palate, Craniosynostosis, Short 1st metacarpal, Short philtrum, ... ORPHA:949
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Large fleshy ears, Cleft palate, Small for gestational age, Short ribs, Micrognathia, Short femur... OMIM:616897
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Chronic lung disease, Cough, Dextrocardia, Rhinorrhea, Recurrent o... OMIM:618254
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Dental crowding, Sensorineural hearing impairment, Protruding ear, Ankle flexion contracture, Cry... ORPHA:435938
Teebi Hypertelorism Syndrome 2
High palate, Wide anterior fontanel, Thick eyebrow, Cleft palate, Everted lower lip vermilion, Br... OMIM:619736
Chromosome 14Q11-Q22 Deletion Syndrome
High palate, Low-set ears, Narrow mouth, Abnormal pinna morphology, Micrognathia, Long philtrum, ... OMIM:613457
Radio-Tartaglia Syndrome
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Short philtrum, Downslanted palpeb... OMIM:619312
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
High palate, Failure to thrive, Abnormal pinna morphology, Protruding ear, Decreased body weight,... OMIM:617452
Monosomy 18P
Abnormal antihelix morphology, Protruding ear, Microphthalmia, Tooth malposition, Cleft palate, H... ORPHA:1598
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Pde4D Haploinsufficiency Syndrome
Depressed nasal bridge, Short philtrum, Upper limb undergrowth, Short nose, Hypoplasia of the max... ORPHA:439822
Nabais Sa-De Vries Syndrome, Type 1
Bulbous nose, Optic nerve hypoplasia, Depressed nasal bridge, Downslanted palpebral fissures, Tel... OMIM:618828
Gillessen-Kaesbach-Nishimura Syndrome
Large fleshy ears, Wide anterior fontanel, Convex nasal ridge, Retrognathia, Micrognathia, Teleca... OMIM:263210
Cardiofaciocutaneous Syndrome
High palate, Atrial septal defect, Cryptorchidism, Pulmonic stenosis, Short neck, Long philtrum, ... ORPHA:1340
Bangstad Syndrome
Retrognathia, Convex nasal ridge, Abnormally large globe, Small for gestational age OMIM:210740
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Anodontia, Protruding ear, Hypodontia, Micrognathia, Abnormality of the dentitio... ORPHA:3253
Hajdu-Cheney Syndrome
Cleft palate, Abnormality of the dentition, Short neck, Ventricular septal defect, Umbilical hern... ORPHA:955
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Abnormal pinna morphology, Microretrognathia, Microtia, Short philtrum, Downslanted palpebral fis... OMIM:613603
Cornelia De Lange Syndrome 2
High palate, Brachycephaly, Thick eyebrow, Small hand, Micrognathia, Limited elbow movement, Down... OMIM:300590
Burning Mouth Syndrome
Parageusia, Xerostomia, Smooth tongue, Abnormality of taste sensation, Tongue pain, Abnormal fift... ORPHA:353253
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Dental malocclusion, Malar flattening OMIM:616108
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment, Fused cervical vert... OMIM:184460
Heart And Brain Malformation Syndrome
Wide anterior fontanel, High, narrow palate, Everted lower lip vermilion, Attached earlobe, Limb ... OMIM:616920
Burn-Mckeown Syndrome
Cleft upper lip, Conductive hearing impairment, Protruding ear, Narrow mouth, Short palpebral fis... OMIM:608572
Intellectual Disability And Myopathy Syndrome
Sleep apnea, Dental malocclusion, Broad nasal tip, Congenital hip dislocation, Limited elbow exte... OMIM:619719
Gómez-López-Hernández Syndrome
Thin vermilion border, Telecanthus, Anteverted nares, Low-set ears, Brachycephaly, Midface retrus... ORPHA:1532
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Three M Syndrome 2
High palate, Dental malocclusion, Protruding ear, Prominent nasal tip, Malar flattening, Small fo... OMIM:612921
Cri-Du-Chat Syndrome
High palate, Abnormal pinna morphology, Microretrognathia, Small for gestational age, Stenosis of... OMIM:123450
Camptodactyly Syndrome, Guadalajara, Type I
High palate, Depressed nasal bridge, Short nose, Twelfth rib hypoplasia, Midface retrusion, Absen... OMIM:211910
Cataract-Intellectual Disability-Hypogonadism Syndrome
Abnormal antihelix morphology, High palate, Tooth malposition, Malar flattening, Everted lower li... ORPHA:1387
Mandibulofacial Dysostosis With Alopecia
Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Sparse eyelashes, Stenosis... OMIM:616367
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Plagiocephaly, Unilambdoid synostosis, Micrognathia, Long philtrum, Ulnar deviation of the wrist,... OMIM:618577
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Cleft Velum
Conductive hearing impairment, Hypoplasia of the maxilla, Recurrent otitis media ORPHA:99772
Kbg Syndrome
EEG abnormality, Thick eyebrow, Cleft palate, Long palpebral fissure, Oligodontia, Bilateral cond... ORPHA:2332
Treacher Collins Syndrome 2
Conductive hearing impairment, Cleft palate, Microtia, Micrognathia, Downslanted palpebral fissur... OMIM:613717
Chung-Jansen Syndrome
High palate, Thick eyebrow, Upslanted palpebral fissure, Thin vermilion border, Micrognathia, Sho... OMIM:617991
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Keppen-Lubinsky Syndrome
High palate, Failure to thrive, High, narrow palate, Abnormally large globe, Micrognathia, Short ... OMIM:614098
Edinburgh Malformation Syndrome
Failure to thrive, Narrow mouth, Thin vermilion border, Micrognathia, Respiratory insufficiency, ... ORPHA:1895
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Large earlobe, Low-set ears, Hypodontia, Retrognathia, Optic nerve... OMIM:301056
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Narrow mouth, Cleft palate, Microtia, Micrognathia, Upper eyelid c... ORPHA:398156
Branchiootic Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Micrognathia, Branchial fistula,... ORPHA:52429
Mandibuloacral Dysplasia
High palate, Dental crowding, Short clavicles, Abnormally large globe, Delayed cranial suture clo... ORPHA:2457
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Delayed eruption of teeth, Downslanted palpebral fis... OMIM:305620
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Cardiospondylocarpofacial Syndrome
Conductive hearing impairment, Congenital sensorineural hearing impairment, Carpal synostosis, Co... OMIM:157800
2Q32Q33 Microdeletion Syndrome
High palate, Narrow mouth, Convex nasal ridge, Cleft palate, Thin vermilion border, Micrognathia,... ORPHA:251019
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Abnormality of the ear, EEG abnormality, Retrognathia, Open mouth, Broad nasal... ORPHA:391372
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Stillbirth, Multiple unerupted teeth OMIM:183300
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, High palate, EEG abnormality, Aspiration pneumonia, Micrognathia, Pr... ORPHA:314655
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Ventricular septal defect, Umbilical hernia, Mandibular prognathia, Widely-spaced maxillary centr... OMIM:301040
Myasthenic Syndrome, Congenital, 19
High palate, Retrognathia, Micrognathia, Respiratory insufficiency, Facial palsy, Low-set ears, P... OMIM:616720
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Wide mouth, Peripheral pulmonary artery stenosis, Conductive hearing impairment, Joint contractur... OMIM:280000
Hao-Fountain Syndrome
Central sleep apnea, Delayed cranial suture closure, Large fontanelles, Low-set ears, Trigonocephaly OMIM:616863
Apert Syndrome
Ectopic anus, Dental malocclusion, Narrow palate, Malar flattening, Cleft palate, Esophageal atre... OMIM:101200
Potocki-Shaffer Syndrome
Parietal foramina, Micrognathia, Short philtrum, Broad nasal tip, Depressed nasal tip, Downturned... ORPHA:52022
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Cleft palate, Abnormality of the dentition, Short philtrum, Microdontia, Downslanted... ORPHA:251028
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Protruding ear, Narrow mouth, Micrognathia, Camptodactyly of finger, Optic atrophy, Short nose, R... ORPHA:1495
Grant Syndrome
Joint dislocation, Open bite, Micrognathia, Depressed nasal bridge, Wormian bones, Frontal bossin... ORPHA:2097
Hamamy Syndrome
High palate, Wide mouth, Sparse eyebrow, Craniosynostosis, Sparse lateral eyebrow, Micrognathia, ... OMIM:611174
Osteopathia Striata With Cranial Sclerosis
High palate, Apnea, Cleft palate, Overfolded helix, Delayed closure of the anterior fontanelle, T... OMIM:300373
Zimmermann-Laband Syndrome
Sensorineural hearing impairment, Large fleshy ears, High palate, Wide mouth, Thick eyebrow, Supe... ORPHA:3473
Uruguay Faciocardiomusculoskeletal Syndrome
Joint contracture of the hand, Everted lower lip vermilion, Retrognathia, Congenital hip dislocat... OMIM:300280
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Brachycephaly, Bulbous nose, Plagiocephaly, Cachexia, Short philtrum, Downslanted palpebral fissu... OMIM:616801
Pontocerebellar Hypoplasia, Type 3
High palate, Decreased body weight, High, narrow palate, Depressed nasal bridge, Long palpebral f... OMIM:608027
Al Kaissi Syndrome
Torticollis, Brachycephaly, Abnormal pinna morphology, Decreased body weight, High, narrow palate... OMIM:617694
Otosclerosis 1
Otosclerosis, Conductive hearing impairment OMIM:166800
Trisomy 13
Abnormal antihelix morphology, Low-set ears, Sensorineural hearing impairment, Abnormal helix mor... ORPHA:3378
Apert Syndrome
Cleft palate, Depressed nasal bridge, Brachyturricephaly, Micromelia, Delayed eruption of teeth, ... ORPHA:87
Smith-Magenis Syndrome
EEG abnormality, Velopharyngeal insufficiency, Malar flattening, Everted upper lip vermilion, Abn... OMIM:182290
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Alveolar ridge overgrowth, Abnormally large globe, Micrognathia, Broad nasal tip, Do... ORPHA:1655
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Sensorineural hearing impairment, Dental malocclusion, Wide mouth, Malar flattening, Everted lowe... ORPHA:85321
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Wide mouth, Short philtrum, Microdontia, Optic atrophy, Abnormal lip morpho... ORPHA:2707
22Q11.2 Deletion Syndrome
Cholelithiasis, Tricuspid atresia, Cleft palate, Overfolded helix, Abnormality of the dentition, ... ORPHA:567
Antley-Bixler Syndrome
Narrow mouth, Elbow ankylosis, Cleft palate, Craniosynostosis, Delayed cranial suture closure, Ca... ORPHA:83
Tetrasomy 5P
Respiratory distress, Failure to thrive, Wide anterior fontanel, High palate, Upslanted palpebral... ORPHA:3309
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Abnormal helix morphology, Joint contracture of the hand, Cleft palate, Stippled chondral ... OMIM:214110
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
High palate, Bulbous nose, Cleft palate, Depressed nasal bridge, Microdontia, Long eyelashes, Del... OMIM:610759
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Short philtrum, Downslanted palpebral fissures, Tremor, Open mouth, Thick lower lip ... OMIM:618342
Mental Retardation, X-Linked 91
High palate, Small hand, Macrodontia, Short 5th finger, Epicanthus, Short nose, Cubitus valgus, S... OMIM:300577
Mulibrey Nanism
Dental malocclusion, Hypodontia, Dolichocephaly, Depressed nasal bridge, Enamel hypoplasia, Hypop... OMIM:253250
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Intellectual Disability, Buenos-Aires Type
High palate, Dental malocclusion, Biparietal narrowing, Open bite, Abnormality of dental morpholo... ORPHA:3079
Halperin-Birk Syndrome
High palate, Congenital diaphragmatic hernia, Flexion contracture, Micrognathia, Death in childho... OMIM:618651
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea, Delayed eruption of teeth, Widely spaced teeth, Patent ductus arteriosus, Macrotia, Crypto... OMIM:619797
Trichorhinophalangeal Syndrome Type 2
Conductive hearing impairment, Protruding ear, Bulbous nose, Thick eyebrow, Joint dislocation, Su... ORPHA:502
Orofaciodigital Syndrome Vi
High palate, Failure to thrive, Conductive hearing impairment, Cleft upper lip, Accessory oral fr... OMIM:277170
Acro-Renal-Mandibular Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Micrognathia, Tra... ORPHA:958
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Depressed nasal bridge, Downslanted palpebral fissures, Short nose, Mi... OMIM:206920
Distal Monosomy 17Q
Abnormal cardiac septum morphology, Narrow mouth, Microtia, Respiratory insufficiency, Aplasia/Hy... ORPHA:1597
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Abnormality of the neck, Abnormality of the auditory canal, Abnormality ... ORPHA:79493
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Microtia, Limb undergrowth, Epicanthus, Short nose, Oxyce... ORPHA:221054
German Syndrome
High palate, Abnormal eyebrow morphology, Everted lower lip vermilion, Dolichocephaly, Micrognath... ORPHA:2077
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Dental malocclusion, EEG abnormality, Abnormality of the dentitio... ORPHA:1858
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Calvarial skull defect, Upslanted palpebral fissure, Coronal craniosynostosis, Abnormality of the... ORPHA:228390
16P11.2P12.2 Microdeletion Syndrome
Short palm, Sleep apnea, Abnormal pinna morphology, Bulbous nose, Microretrognathia, Long nose, C... ORPHA:261211
Silver-Russell Syndrome 3
Retrognathia, Low-set ears, Cryptorchidism, Patent ductus arteriosus OMIM:616489
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Abnormal pinna morphology, Persistence of primary teeth, Malar flat... OMIM:610253
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Microtia, Sparse eyelashes, Micrognathia, Downslanted palpebral fi... OMIM:300946
Abruzzo-Erickson Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Short toe, Malar flattening, Cle... ORPHA:921
Chromosome 18Q Deletion Syndrome
Cleft palate, Short philtrum, Short neck, Optic atrophy, Ventricular septal defect, Umbilical her... OMIM:601808
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Conductive hearing impairment, Thick eyebrow, Supernumerary tooth, Overfolded helix,... OMIM:617412
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Conductive hearing impairment, Dental malocclusion, Joint contracture of the hand, Malar flatteni... OMIM:608257
Lujan-Fryns Syndrome
High palate, Protruding ear, Micrognathia, Camptodactyly of finger, Abnormality of the dentition,... ORPHA:776
Chromosome 5P13 Duplication Syndrome
High palate, Bulbous nose, Short palpebral fissure, Upslanted palpebral fissure, Craniosynostosis... OMIM:613174
Marshall Syndrome
High palate, Thick upper lip vermilion, Sensorineural hearing impairment, Malar flattening, Cleft... ORPHA:560
Recombinant 8 Syndrome
Cleft palate, Abnormality of the dentition, Ventricular septal defect, Abnormality of the outer e... ORPHA:96167
Cree Mental Retardation Syndrome
Micrognathia, Downslanted palpebral fissures, Aplasia/Hypoplasia of the ribs, Triangular face, La... OMIM:606851
Peroxisomal Acyl-Coa Oxidase Deficiency
Depressed nasal bridge, Wide nasal bridge, Optic atrophy, Frontal bossing, Low-set ears, Brachyce... OMIM:264470
Carey-Fineman-Ziter Syndrome 2
Failure to thrive, Protruding ear, Velopharyngeal insufficiency, High, narrow palate, Micrognathi... OMIM:619941
Digeorge Syndrome
Hydrocele testis, High palate, Cholelithiasis, Cleft palate, Ovarian cyst, Short philtrum, Thromb... OMIM:188400
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Downslanted palpebral fissures, Short nose, Delayed closure o... OMIM:311300
Orofaciodigital Syndrome Type 1
High palate, Accessory oral frenulum, Hypodontia, Cleft palate, Open bite, Lip pit, Micrognathia,... ORPHA:2750
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
High palate, Failure to thrive, Brachycephaly, Decreased body weight, Retrognathia, Long palpebra... ORPHA:505237
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Bulbous nose, Cleft palate, Abnormality of canine, Short nose, Tented upper lip vermilion, Microp... ORPHA:364577
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment, Vestibular dysf... OMIM:616515
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Microdontia OMIM:301200
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Failure to thrive, Dental malocclusion, Narrow palate, Upslanted palpe... OMIM:617883
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal antihelix morphology, Conductive hearing impairment, Upslanted palpebral fissure, Aplasi... ORPHA:3082
Branchiootorenal Syndrome 1
High palate, Cleft palate, Branchial fistula, Microdontia, Euthyroid goiter, Microtia, Cupped ear... OMIM:113650
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Low-set ears, Sensorineural hearing impairment, Retrognathia, Cupped ear, Short neck... OMIM:300472
Chromosome 2P16.1-P15 Deletion Syndrome
High palate, Depressed nasal bridge, Downslanted palpebral fissures, Short palpebral fissure, Hig... OMIM:612513
Osteogenesis Imperfecta, Type Xx
High palate, Bulbous nose, Narrow palate, Plagiocephaly, Retrognathia, Highly arched eyebrow, Age... OMIM:618644
Autosomal Recessive Omodysplasia
Craniosynostosis, Micrognathia, Depressed nasal bridge, Long philtrum, Micromelia, Mesomelia, Sho... ORPHA:93329
Prolidase Deficiency
Abnormality of the middle ear, Micrognathia, Hypoplasia of the zygomatic bone, Carious teeth, Hea... ORPHA:742
Baraitser-Winter Syndrome 1
Sensorineural hearing impairment, Failure to thrive, Wide mouth, Cleft upper lip, Trigonocephaly,... OMIM:243310
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Abnormal helix morphology, Cleft palate, Atrioventricular canal defect, Ventricular ... ORPHA:453499
Meacham Syndrome
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