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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

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

Adult LacZ

LacZ Images Section

37 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Forepaw

10 Images

Gross Morphology Embryo E18.5

Images

3 Images

MicroCT E18.5

Embryo reconstruction

6 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
Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of... OMIM:616367
Cystic Fibrosis
Sinusitis, Hearing impairment, Reduced forced expiratory volume in one second, Asthma, Pneumothor... 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, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... OMIM:128980
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Dental crowding, Micrognathia, Glossoptosis, Mandibular condyle apla... OMIM:614669
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th... ORPHA:3145
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Malar flattening, Maxillozygomatic hypoplasia, Low-set, posteriorly ro... ORPHA:2972
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Micrognathia, Short philtrum, Bifid uvula, Preauricular pit, Fac... OMIM:301022
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Treacher Collins Syndrome 3
Micrognathia, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impairment, 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
Microretrognathia, Micrognathia, Lower eyelid coloboma, Fusion of middle ear ossicles, Microtia, ... OMIM:613717
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Abnormal mitral valve morphology, Micrognathia, Cryptorchidism... ORPHA:1131
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Thin upper lip vermilion, Overriding aorta, Micrognathia, Cryptorchidism, P... ORPHA:3304
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment... ORPHA:3232
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Dental crowding, Abnormally large globe, Cubitus valgus, Cari... OMIM:269300
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Anteverted nares, Micrognathia, Dyspnea, Large fo... ORPHA:1832
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Mandibular prognathia, Overriding aorta, Carious teeth, Abnorm... ORPHA:1110
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Epicanthus, Wide cranial sutures, Frontal bossing, Scaphocephaly, Denta... OMIM:619149
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Attached earlobe, Synophrys, Brachycephaly, Downturned corners of mouth, H... ORPHA:1327
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Cryptorchidism, Aplas... ORPHA:1926
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Abnormally large globe, Downturned corners of ... OMIM:239300
Mcdonough Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Cachexia, Micrognathia, Prominent nose,... ORPHA:2471
Chromosome 3Pter-P25 Deletion Syndrome
Flat occiput, Micrognathia, Synophrys, Brachycephaly, Downturned corners of mouth, High palate, P... OMIM:613792
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Short neck, Abnormal aortic morphology, Webbed neck, Truncus arteriosus ORPHA:2516
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
22Q11.2 Duplication Syndrome
Ventricular septal defect, Micrognathia, Cleft palate, Anterior creases of earlobe, Hypoplastic l... ORPHA:1727
Seckel Syndrome 1
Dental crowding, Selective tooth agenesis, Micrognathia, Abnormally large globe, Prominent nose, ... OMIM:210600
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Fetal Trimethadione Syndrome
Ventricular septal defect, Micrognathia, High palate, Transposition of the great arteries, Abnorm... ORPHA:1913
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Epicanthus, Intermittent hyperventilation, Optic nerve hypoplasia, Prominent n... OMIM:300749
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Webbed neck OMIM:601355
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplasia of the thymus, Con... ORPHA:861
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Hypoplasia of... OMIM:257850
Pierpont Syndrome
Brachycephaly, Large fleshy ears, Widely spaced teeth, Short palm, Short toe, Long upper lip, Uni... OMIM:602342
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormally large globe, Widely... ORPHA:363417
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Auriculocondylar Syndrome 1
Overfolding of the superior helices, Apnea, Dental crowding, Posteriorly rotated ears, Micrognath... OMIM:602483
Rubinstein-Taybi Syndrome 2
Epicanthus, Posteriorly rotated ears, Highly arched eyebrow, Micrognathia, Carious teeth, Promine... OMIM:613684
Recombinant Chromosome 8 Syndrome
Micrognathia, Downturned corners of mouth, Atrial septal defect, Cryptorchidism, Patent ductus ar... OMIM:179613
Lethal Congenital Contracture Syndrome 10
Torticollis, Stiff neck, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, M... OMIM:617022
17Q21.31 Microduplication Syndrome
Epicanthus, Anteverted nares, Micrognathia, Abnormality of the dentition, Synophrys, High palate,... ORPHA:217340
Larsen-Like Syndrome
Joint dislocation, Frontal bossing, Wide anterior fontanel, Dental malocclusion, Brachycephaly, C... OMIM:608545
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Frontal bossing, Depressed nasal bridge, Micrognathia, Brachyc... ORPHA:1695
Emanuel Syndrome
Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect... OMIM:609029
Carpenter Syndrome 1
Short neck, Micrognathia, Hypoplasia of the maxilla, High palate, Atrial septal defect, Conductiv... OMIM:201000
Bent Bone Dysplasia Syndrome 1
Natal tooth, Micrognathia, Abnormally large globe, Gingival overgrowth, Decreased calvarial ossif... OMIM:614592
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Prominent metopic ridge, Flat occiput, Anteverted nares, Brachycephaly,... ORPHA:46
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Descending aortic dissection, Mucoid extracellu... ORPHA:229
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Posteriorly rotated ears, Dental crowding, Pierre-Robin sequence, Anter... OMIM:617877
Blepharophimosis-Impaired Intellectual Development Syndrome
Synophrys, Short philtrum, Widely spaced teeth, Microdontia, Anteverted nares, Exaggerated cupid'... OMIM:619293
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Thin upper lip vermilion, Overriding aort... ORPHA:477817
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Short neck, External ear malformation, Micrognathia, Pulmonary a... ORPHA:251071
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Pierpont Syndrome
Thin upper lip vermilion, Telecanthus, Posteriorly rotated ears, Small for gestational age, Uplif... ORPHA:487825
Emanuel Syndrome
Redundant neck skin, Dental crowding, Multiple joint contractures, Congenital diaphragmatic herni... ORPHA:96170
Branchiooculofacial Syndrome
Short neck, Micrognathia, Postauricular pit, Conductive hearing impairment, Ectopic thymus tissue... OMIM:113620
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Intellectual Developmental Disorder, Autosomal Dominant 26
Epicanthus, Thick eyebrow, Small for gestational age, Anteverted nares, Highly arched eyebrow, Mi... OMIM:615834
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Double Outlet Right Ventricle
Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Abnormality of cartilage o... ORPHA:3426
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, T... OMIM:192430
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Stapes ankylosis, Mandibular prognathia, Papilledema, Dental crowding,... OMIM:614188
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Pyknoachondrogenesis
Stillbirth OMIM:265880
Muenke Syndrome
Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Dental malocclusion... OMIM:602849
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, A... OMIM:617516
Potocki-Lupski Syndrome
Mandibular prognathia, Small for gestational age, Dental crowding, Micrognathia, Dental malocclus... OMIM:610883
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Epicanthus, Anteverted nares, Microg... ORPHA:2015
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonary artery atre... ORPHA:401935
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Large earlobe, Short columella, Short nose, Short di... OMIM:155050
Coffin-Siris Syndrome 6
Frontal bossing, Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Broa... OMIM:617808
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Epicanthus, Micrognathia, Underdeveloped nasal alae, Wide nasal bridge, Upslanted palpebral fissu... OMIM:248910
Treacher Collins Syndrome 4
Respiratory failure requiring assisted ventilation, Micrognathia, Lower eyelid coloboma, Cleft pa... OMIM:618939
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Malar flattening, Hypoplasia of the zygomatic bone ORPHA:2835
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Hypoplasia of the zygomatic bone ORPHA:3074
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Facial palsy, Craniosynostosis, Optic atrophy, Brachycephaly, Thickened calvaria, Hear... ORPHA:178377
Mandibulofacial Dysostosis-Microcephaly Syndrome
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Accessory ... ORPHA:79113
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Exaggerated cupid's bow, Micrognath... ORPHA:261120
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Crouzon Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Hearing impairment, Hypoplasia of the maxilla, Op... ORPHA:207
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Shor... OMIM:615583
Frank-Ter Haar Syndrome
Flat occiput, Micrognathia, Abnormally large globe, Brachycephaly, Protruding ear, High palate, S... OMIM:249420
Auriculocondylar Syndrome
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, M... ORPHA:137888
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Stroke, Aortic dissection OMIM:135580
Van Maldergem Syndrome 1
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... OMIM:601390
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Short palm, Turricephaly, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Micrognathi... ORPHA:171839
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Dental malocclusion, Horner syndrome, Microtia, Blepha... OMIM:141300
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Epicanthus, Abnormality of the middle ear ossicles, Severe conductive hearing i... ORPHA:90646
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Attached earlobe, Micrognathia, Underdeveloped nasal alae, Diastema, Dental malocclusion, Upslant... ORPHA:436245
Holoprosencephaly
Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep philtrum, Encephaloc... ORPHA:2162
Van Maldergem Syndrome 2
Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi... OMIM:615546
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Micrognathia, Abnormally large globe, Multiple joint dislocation, Brachycephaly, Knee dislocation... OMIM:245600
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attached earlobe, Underdeveloped nasal alae, Dental malocclusion, Upslanted palpebral fissure, Wi... OMIM:616108
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Interrup... OMIM:617478
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Open bite, Macrotia, De... ORPHA:61
Craniosynostosis 3
Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right unicoronal syno... OMIM:615314
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Short neck, Cryptorchidism, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition ... OMIM:616789
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Cohen Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Micrognathia, Hypoplasi... ORPHA:193
Sandestig-Stefanova Syndrome
Short neck, Muscular ventricular septal defect, Orofacial cleft, Respiratory failure, Perimembran... OMIM:618804
Chromosome 9P Deletion Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Ventricular septal defect, Short neck, Microg... OMIM:158170
Cornelia De Lange Syndrome 5
Micrognathia, Synophrys, Brachycephaly, Downturned corners of mouth, High palate, Widely spaced t... OMIM:300882
Intellectual Developmental Disorder, Autosomal Recessive 39
Prominent nose, Anteverted ears, Synophrys, Dental malocclusion, Macrotia OMIM:615541
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Dental crowding, Micrognathia... OMIM:615761
Flat Face-Microstomia-Ear Anomaly Syndrome
Low-set, posteriorly rotated ears, Abnormal oral mucosa morphology, Camptodactyly of finger, Micr... ORPHA:1968
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Short neck, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Perimem... OMIM:608104
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Preauricular skin furrow, Hearing abnormality, Cryptorchidism, Aplasia/Hypo... ORPHA:1555
Pycnodysostosis
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... ORPHA:763
Acrootoocular Syndrome
Micrognathia, High, narrow palate, Conductive hearing impairment, Anodontia, Short metacarpal, Su... ORPHA:2980
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Thin upper lip vermilion, Anteverted nares, Micrognathia, Upslanted palpebral fissure, Long eyela... OMIM:618608
Chromosome 16Q22 Deletion Syndrome
Frontal bossing, Prominent metopic ridge, Epicanthus, Posteriorly rotated ears, Small for gestati... OMIM:614541
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Camptodactyly of finger, Mi... ORPHA:2863
Microphthalmia, Syndromic 9
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Patent ... OMIM:601186
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Conductive hearing impairment, Chronic otitis media, Neonatal r... ORPHA:244
Zechi-Ceide Syndrome
Mandibular prognathia, Wide nose, Cleft lip, Short metatarsal, Abnormal earlobe morphology, Wide ... ORPHA:217017
Cebalid Syndrome
Turricephaly, Posteriorly rotated ears, Abnormal pinna morphology, Highly arched eyebrow, Antever... OMIM:618774
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Mandibular prognathia, Anteverted nares, Sensorineural hearing impairment, Optic atrophy, Depress... OMIM:618672
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus, Deep philtrum, Wid... OMIM:619717
Intellectual Developmental Disorder, Autosomal Dominant 21
Posteriorly rotated ears, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coarctation of ... OMIM:615502
Distal 17P13.1 Microdeletion Syndrome
Retrognathia, Hypoplasia of the zygomatic bone, Protruding ear ORPHA:319171
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
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
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... ORPHA:83451
Nager Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Microtia, Hypoplasia ... ORPHA:245
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Gomez-Lopez-Hernandez Syndrome
Turricephaly, Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Wide anterior fontane... OMIM:601853
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Patent ductus arteriosus, Decreased compound muscle action potentia... OMIM:619519
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Brachycephaly, Downturned corners of mouth, High palate, Widely spaced tee... ORPHA:369891
Clark-Baraitser Syndrome
Thin upper lip vermilion, Epicanthus, Anteverted nares, Depressed nasal bridge, Exaggerated cupid... OMIM:617752
Amelogenesis Imperfecta
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... ORPHA:88661
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, Facial palsy, Respiratory insufficiency due to muscle weakness, Dental mal... OMIM:608931
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Short philtrum, Atrial septal defect, Pulmonary artery atresia, Patent fo... OMIM:618316
Charge Syndrome
Hypoplasia of the semicircular canal, Low-set, posteriorly rotated ears, Hypogonadotropic hypogon... ORPHA:138
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Brachycephaly, Choreoathetosis, High... OMIM:234100
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Toluene Embryopathy
Protruding ear, Hypoplasia of the zygomatic bone, Low-set ears, Micrognathia ORPHA:1920
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Patent ductus arteriosus, Muscular ventricular septa... ORPHA:363444
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Hypoplasia of the zygomatic bone, Low-set ears, Protruding ear ORPHA:1778
Frontonasal Dysplasia 1
Epicanthus, Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Hypopl... OMIM:136760
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,... OMIM:600987
Weiss-Kruszka Syndrome
Preauricular pit, Bicuspid aortic valve, Ventricular septal defect, Hearing impairment, Exaggerat... OMIM:618619
Symphalangism, Proximal, 1A
Carpal synostosis, Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Proximal ... OMIM:185800
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Epicanthus, Frontal bossing, Posteriorly rotated ears, Anteverted nares... OMIM:613604
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Cleidocranial Dysplasia
Delayed eruption of teeth, Mandibular prognathia, Sinusitis, Abnormal dental enamel morphology, M... ORPHA:1452
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... OMIM:220210
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Cleft p... ORPHA:1166
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Hypoplasi... OMIM:218000
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Slender nose, Thin upper lip vermilion, Micrognathia, ... OMIM:615419
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Synophrys, Brachycephaly, Anteverted nares, Highly arched eyebrow, Wide nasal bridge, Short femor... OMIM:614701
Ciliary Dyskinesia, Primary, 37
Right aortic arch, Dextrocardia, Situs inversus totalis OMIM:617577
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Posteriorly rotated ears, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Inte... OMIM:619657
Partial Atrioventricular Septal Defect
Transient ischemic attack, Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Potocki-Shaffer Syndrome
Epicanthus, Telecanthus, Turricephaly, Underdeveloped nasal alae, Parietal foramina, Wide nasal b... OMIM:601224
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Vascular ring OMIM:603387
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect OMIM:617021
20Q11.2 Microduplication Syndrome
Tented upper lip vermilion, Brachycephaly, Short palm, Abnormal nasal bridge morphology, Low-set,... ORPHA:363659
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Frontal bossing, Depressed nasal bridge, Optic atrophy, Wide nasal bri... ORPHA:1513
Kabuki Syndrome 2
Micrognathia, Protruding ear, High palate, Highly arched eyebrow, Short columella, Low-set ears, ... OMIM:300867
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Taurodontia, High palate, Pulmonic stenosis, Low-set ea... OMIM:618205
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Frontal bossing, Turricephaly, Choanal atresia, Hypoplasia of the maxilla, Optic atrophy, Brachyc... ORPHA:93262
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... ORPHA:1529
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Frontal bossing, Epicanthus, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterio... ORPHA:163649
Variant Abeta2M Amyloidosis
Amyloidosis of peripheral nerves, Abnormal vascular morphology, Intestinal perforation, Abnormali... ORPHA:314652
Osteopathia Striata-Cranial Sclerosis Syndrome
Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Conductive hearing impairment, Bi... ORPHA:2780
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Patent ductus arteriosus, Sensorineural hearing impairment, Low-set ears, Malar flattening, Midfa... OMIM:122430
Microcephalic Primordial Dwarfism, Montreal Type
Retrognathia, Abnormally large globe, Convex nasal ridge, Ptosis OMIM:210700
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the maxilla, Micrognathia, Cupped ear, Conotruncal defect, Microtia, High p... ORPHA:40366
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Ververi-Brady Syndrome
Thin upper lip vermilion, Cupped ear, Wide mouth, High palate, Transposition of the great arterie... OMIM:617982
Microcephaly-Microcornea Syndrome, Seemanova Type
Epicanthus, Brachycephaly, Upslanted palpebral fissure, High palate, Narrow mouth, Microphthalmia... ORPHA:2528
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... OMIM:616331
Aminopterin Syndrome Sine Aminopterin
Frontal bossing, Posteriorly rotated ears, Highly arched eyebrow, Micrognathia, Short thumb, Brac... OMIM:600325
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... ORPHA:199306
Gaucher Disease, Type Ii
Double aortic arch OMIM:230900
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Small for gestational age, Hypoplasia of the maxilla, Brachycephaly, Upsla... ORPHA:93950
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Pierre Robin Syndrome
Neonatal respiratory distress, Micrognathia, Pierre-Robin sequence, Cor pulmonale, Upper airway o... OMIM:261800
Hypomandibular Faciocranial Dysostosis
Death in infancy, Midface retrusion, Aplasia/Hypoplasia of the tongue, Patent ductus arteriosus, ... ORPHA:1790
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Thin upper lip vermilion, Ventricular septal defect, Camptodactyly of finger, ... ORPHA:261330
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Malar prominence, Large earlobe, Hypoplasia of the zygomatic bone, Macrotia ORPHA:2715
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnor... ORPHA:99050
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Preauricular pit, Abnormality of the... OMIM:609166
Saethre-Chotzen Syndrome
Prominent crus of helix, Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Abnormal heart ... OMIM:101400
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Narrow nasal bridge, Flat occiput, Abnormal zygomatic bone morphology, Hea... ORPHA:2511
Sweeney-Cox Syndrome
Flat occiput, Uplifted earlobe, Micrognathia, Brachycephaly, High palate, Short philtrum, Median ... OMIM:617746
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Epicanthus, Thin upper lip vermilion, Posteriorly rotated ears, Failure to thriv... OMIM:616801
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Atrial septal defect, Ventricular septal defect, Camptodactyly... ORPHA:1388
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Short neck, Micrognathia, Patent ductus arteriosus, Short philtrum, Low-set ears, Abnormal oral c... ORPHA:1516
Craniosynostosis, Herrmann-Opitz Type
Turricephaly, Craniosynostosis, Micrognathia, Micromelia, Brachycephaly, Cleft palate, Abnormal a... ORPHA:2145
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Epicanthus, Telecanthus, Anteverted nares, Choanal atresia, Trigonocephaly,... OMIM:610536
Marcus-Gunn Syndrome
Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Cleft lip, Cleft palate, Abnorm... ORPHA:91412
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Narrow nasal bridge, Epicanthus, Abnormal dental enamel morphology, Elbow dislocation, Conductive... ORPHA:3236
Momo Syndrome
Delayed eruption of teeth, Frontal bossing, Epicanthus, Underfolded helix, Thick lower lip vermil... OMIM:157980
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Bronchiectasis, Decreased nasal nitric oxide, Cough, Recurrent otitis media, Double... OMIM:618254
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Hearing impairment, ... OMIM:619736
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... ORPHA:860
Nabais Sa-De Vries Syndrome, Type 1
Neonatal respiratory distress, Epicanthus, Telecanthus, Optic nerve hypoplasia, Highly arched eye... OMIM:618828
Radio-Tartaglia Syndrome
Dental crowding, Micrognathia, Tremor, High, narrow palate, Synophrys, High palate, Short philtru... OMIM:619312
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Facial Paresis, Hereditary Congenital, 3
Unilateral ptosis, Epicanthus, Tented upper lip vermilion, Posteriorly rotated ears, Facial palsy... OMIM:614744
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormal fifth cranial nerve morphology, Abnormality ... ORPHA:353253
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Telecanthus, Short femur, Posteriorly rotated ears, Small for gestational age, Anteverted nares, ... OMIM:616897
Gillessen-Kaesbach-Nishimura Syndrome
Epicanthus, Telecanthus, Posteriorly rotated ears, Micrognathia, Underdeveloped nasal alae, Wide ... OMIM:263210
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, Epicanthus, Anteverted nares, Dental malocclusion, High palate, Downslante... OMIM:618292
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... ORPHA:216694
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Thin upper lip vermilion, Failure to thrive, Flat occiput, Abnormal pinna morphology, Prominent n... OMIM:617452
Acrocraniofacial Dysostosis
Micrognathia, Short philtrum, Abnormality of the malleus, Conductive hearing impairment, Advanced... ORPHA:949
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Momo Syndrome
Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Frontal bossing, Underfolded he... ORPHA:2563
Chromosome 3Q29 Duplication Syndrome
Abnormally large globe, Bulbous nose, Obesity, Wide nasal bridge, Blepharophimosis, Short nose, D... OMIM:611936
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Bangstad Syndrome
Retrognathia, Small for gestational age, Convex nasal ridge, Abnormally large globe OMIM:210740
Acrofacial Dysostosis, Catania Type
Low-set, posteriorly rotated ears, Microretrognathia, Preauricular pit, Abnormality of the dentit... ORPHA:1786
Shprintzen-Goldberg Craniosynostosis Syndrome
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, High palate, Shallow orbits, Conductive... OMIM:182212
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Short neck, Micrognathia, Cleft upper ... OMIM:616145
Perlman Syndrome
Epicanthus, Posteriorly rotated ears, Anteverted nares, Micrognathia, High, narrow palate, Open m... ORPHA:2849
2Q32Q33 Microdeletion Syndrome
Anteverted nares, Prominent nasal bridge, Dental crowding, Micrognathia, Brachycephaly, Cleft pal... ORPHA:251019
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Unilambdoid synostosis, Wide nasal ... OMIM:618577
Gómez-López-Hernández Syndrome
Telecanthus, Turricephaly, Anteverted nares, Brachycephaly, Thin vermilion border, Low-set ears, ... ORPHA:1532
Cornelia De Lange Syndrome 2
Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Highly arche... OMIM:300590
Burn-Mckeown Syndrome
Mandibular prognathia, Choanal atresia, Prominent nasal bridge, Micrognathia, Underdeveloped nasa... OMIM:608572
Acrocardiofacial Syndrome
Death in infancy, Hyperthyroidism, Mitral stenosis, Ventricular septal defect, Camptodactyly of f... ORPHA:2008
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Ankle flexion c... ORPHA:435938
Monosomy 18P
Epicanthus, Generalized dystonia, Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, P... ORPHA:1598
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Carious teeth, Cleft... ORPHA:3253
Heart And Brain Malformation Syndrome
Attached earlobe, Ventricular septal defect, Posteriorly rotated ears, Camptodactyly of finger, W... OMIM:616920
Mandibulofacial Dysostosis With Alopecia
Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of... OMIM:616367
Three M Syndrome 2
Delayed eruption of teeth, Prominent nasal tip, Frontal bossing, Small for gestational age, Antev... OMIM:612921
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Atrial septal defect, Abnormal heart valve morphology, Short n... ORPHA:1340
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Congenital stapes ankylosis, Proximal/middle symphalangism of 5th finger, Fused... OMIM:184460
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... ORPHA:439822
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Posteriorly rotated ears, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:301056
Branchiootic Syndrome
Preauricular pit, Branchial fistula, Micrognathia, Sensorineural hearing impairment, Abnormality ... ORPHA:52429
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Brachycephaly, Furrowed ... ORPHA:1387
Cri-Du-Chat Syndrome
Microretrognathia, Epicanthus, Short metacarpal, Abnormal pinna morphology, Small for gestational... OMIM:123450
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Epicanthus, Posteriorly rotated ears, Anteverted nares, Exaggerated cupid's bow, Wide mouth, Dela... OMIM:618506
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Failure to thrive, Broad nasal tip, Overweight, Recurrent upper respirator... ORPHA:391372
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Telecanthus, Anteverted nares, Prominent n... ORPHA:2332
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Frontometaphyseal Dysplasia 1
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... OMIM:305620
Chung-Jansen Syndrome
Epicanthus, Anteverted nares, Micrognathia, Synophrys, Obesity, Upslanted palpebral fissure, Larg... OMIM:617991
Hajdu-Cheney Syndrome
Short neck, Absent frontal sinuses, Micrognathia, Downturned corners of mouth, Periodontitis, Ope... ORPHA:955
Edinburgh Malformation Syndrome
Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Synophrys, Respiratory insuffic... ORPHA:1895
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Oculoauriculofrontonasal Syndrome
Wide nose, Micrognathia, Underdeveloped nasal alae, Conductive hearing impairment, Bifid nasal ti... ORPHA:398156
Apert Syndrome
Delayed eruption of teeth, Mandibular prognathia, Overriding aorta, Ventricular septal defect, Cr... OMIM:101200
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Brachycephaly, Conductive hearing impairment, Depressed nasal bridge, ... ORPHA:794
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Prominent metopic ridge, Telecanthus, Apnea, Anteverted na... ORPHA:314655
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Joint laxity, Epicanthus, Telecanthus, Posteriorly rotated ears, Tarsal synost... OMIM:157800
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Intraventricular hemorrhage, Hyd... OMIM:613603
Potocki-Shaffer Syndrome
Epicanthus, Prominent nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Micrognathia, Par... ORPHA:52022
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Death in infancy, Short neck, Secundum atrial septal defect, Micrognathi... OMIM:608779
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Crouzon Syndrome
Mandibular prognathia, Frontal bossing, Dental crowding, Sagittal craniosynostosis, Hypoplasia of... OMIM:123500
Short Syndrome
Delayed eruption of teeth, Frontal bossing, Telecanthus, Small for gestational age, Micrognathia,... OMIM:269880
Hamamy Syndrome
Micrognathia, Brachycephaly, High palate, Anteverted nares, Sparse eyebrow, Wide nasal bridge, Lo... OMIM:611174
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Mandibuloacral Dysplasia
Dental crowding, Delayed cranial suture closure, Abnormally large globe, Micrognathia, Abnormal t... ORPHA:2457
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Optic atrophy, Protruding ear, Narrow... ORPHA:1495
Osteopathia Striata With Cranial Sclerosis
Apnea, Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Conductive hearin... OMIM:300373
Zimmermann-Laband Syndrome
Telecanthus, Wide nose, Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, Bulb... ORPHA:3473
Apert Syndrome
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Co... ORPHA:87
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Stillbirth, Micrognathia OMIM:183300
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Neon... OMIM:265380
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Micrognathia, Capitate-hamate fusion, Radial head subluxation, Short toe, Wide ... OMIM:614078
Grant Syndrome
Joint dislocation, Frontal bossing, Depressed nasal bridge, Micrognathia, Open bite, Large fontan... ORPHA:2097
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Flat occiput, Abnormally large globe, Broad nasal tip, Micrognathia, Al... ORPHA:1655
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Diastema... OMIM:301040
Mulibrey Nanism
Frontal bossing, Wide nose, Depressed nasal bridge, Dental crowding, Absent frontal sinuses, Hypo... OMIM:253250
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Anteverted nares, Camptodactyly... ORPHA:83
Al Kaissi Syndrome
Thin upper lip vermilion, Epicanthus, Telecanthus, Posteriorly rotated ears, Abnormal pinna morph... OMIM:617694
22Q11.2 Deletion Syndrome
Short neck, Micrognathia, Abnormal aortic arch morphology, Short philtrum, Hypoplasia of the thym... ORPHA:567
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Epicanthus, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Sparse eyebrow, Scap... ORPHA:459061
Au-Kline Syndrome
Downturned corners of mouth, Oligodontia, High palate, Shallow orbits, Bifid uvula, Prominent met... OMIM:616580
Brooke-Spiegler Syndrome
Facial palsy, Salivary gland neoplasm, Abnormality of the auditory canal, Abnormality of the neck... ORPHA:79493
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Epicanthus, Telecanthus, Micrognathia, Abnormality of the dentition, Sensorineural hearing impair... ORPHA:85321
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hooded eyelid, Limited elbow movement, Micrognathia, Synophrys, Brachycephaly, Downturned corners... OMIM:610759
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial s... OMIM:306955
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Short philt... ORPHA:2707
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Apnea, Cryptorchidism, Patent ductus arteriosus, Thick lower lip vermi... OMIM:619797
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Congenital bilateral ptosis, Anotia, Atresia of the external a... OMIM:608257
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Wide nasal bri... ORPHA:3079
Lateral Meningocele Syndrome
Decreased muscle mass, Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal defect... OMIM:130720
Tetrasomy 5P
Respiratory distress, Epicanthus, Midface retrusion, Posteriorly rotated ears, Anteverted nares, ... ORPHA:3309
Pontocerebellar Hypoplasia, Type 3
Optic disc pallor, Depressed nasal bridge, High, narrow palate, Optic atrophy, Brachycephaly, Dow... OMIM:608027
Intellectual Developmental Disorder, X-Linked 91
Epicanthus, Macrodontia, Small hand, Obesity, Short foot, High palate, Short 5th finger, Cubitus ... OMIM:300577
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, U-Shaped upper lip vermilion, Abnormal pinna morphology, Ante... OMIM:610253
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Acrocephalopolydactyly
Epicanthus, Genu recurvatum, Oxycephaly, Depressed nasal ridge, Microtia, Limb undergrowth, Prema... ORPHA:221054
Chromosome 5P13 Duplication Syndrome
Frontal bossing, Epicanthus, Turricephaly, Posteriorly rotated ears, Small for gestational age, C... OMIM:613174
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Short philtrum, Widely spaced teeth, Subvalvular aortic stenosis, Conductive he... OMIM:280000
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Thin upper lip vermilion, Failure to thrive, Wide nose, Flat occiput, Prominent nasal bridge, Hig... ORPHA:505237
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic her... ORPHA:958
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Micrognathia, Cryptorchidism, Optic nerve dysplasia, Cleft palate, Abnormal heart morpholo... OMIM:214110
Trisomy 13
Preauricular pit, Median cleft lip, Ventricular septal defect, Abnormality of the dentition, Prea... ORPHA:3378
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Abnormality of the dentition, Dental malocclusion, EEG abnormality, Short ... ORPHA:1858
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Optic atrophy, Aspiration, Pe... OMIM:618651
Trichorhinophalangeal Syndrome Type 2
Joint dislocation, Low-set, posteriorly rotated ears, Thin upper lip vermilion, Abnormality of th... ORPHA:502
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Micrognathia, Tremor, Protruding ear, High palate, Short philtrum, Anteverted na... OMIM:618342
Brachycephaly, Trichomegaly, And Developmental Delay
Epicanthus, Flat occiput, Depressed nasal bridge, Highly arched eyebrow, Open mouth, Supernumerar... OMIM:617412
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Marshall Syndrome
Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Sensorineural hearing impa... ORPHA:560
Digeorge Syndrome
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... OMIM:188400
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Micrognathia, Broad nasal tip, Diastema, Brachycephaly, Long eyelashes... OMIM:609757
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Frontal bossing, Telecanthus, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae... ORPHA:228390
Chromosome 2P16.1-P15 Deletion Syndrome
High, narrow palate, Brachycephaly, High palate, Depressed nasal bridge, Wide nasal bridge, EEG a... OMIM:612513
German Syndrome
Abnormal eyebrow morphology, Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Heari... ORPHA:2077
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Widel... OMIM:619719
Osteogenesis Imperfecta, Type Xx
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Highly arched eyebro... OMIM:618644
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Decreased response to growth hormone stimulation test, Short neck, Downtur... OMIM:601808
Abruzzo-Erickson Syndrome
Epicanthus, Sensorineural hearing impairment, Short toe, Cleft palate, Radioulnar synostosis, Con... ORPHA:921
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Camptodactyly of finger, Mi... ORPHA:1488
Orofaciodigital Syndrome Type 1
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Micrognathia, Open ... ORPHA:2750
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Narrow nasal bridge, Frontal bossing, Micrognathia, Aplasia/Hypoplasia of ... ORPHA:3082
Autosomal Recessive Omodysplasia
Frontal bossing, Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Micrognathia, Elbo... ORPHA:93329
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Dental crowding, Micrognath... OMIM:619941
Lujan-Fryns Syndrome
Dental crowding, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the... ORPHA:776
Ring Chromosome 8 Syndrome
Frontal bossing, Epicanthus, Anteverted nares, Round ear, Short nose, Abnormal palate morphology ORPHA:1450
Branchiootorenal Syndrome 1
Branchial cyst, High palate, Conductive hearing impairment, Microdontia, Bifid uvula, Preauricula... OMIM:113650
Peroxisomal Acyl-Coa Oxidase Deficiency
Frontal bossing, Depressed nasal bridge, Optic atrophy, Wide nasal bridge, Brachycephaly, Bilater... OMIM:264470
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Ventricular septal defect, Short neck, Bilateral cryptorchidism, Sensor... OMIM:300472
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, High palate, Atrial septal defec... ORPHA:453499
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Short metacarpal, Micrognathia, Carious teet... OMIM:190350
Recombinant 8 Syndrome
Micrognathia, Downturned corners of mouth, Abnormality of the neck, Atrial septal defect, Chronic... ORPHA:96167
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Persistent open anterior fontanelle, Telecanthus, Dental crowding, Brachycephaly... OMIM:615539
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Micrognathia, Deep philtrum, Brachycephaly, Downturned corners of mouth, Bifid uvula, Anteverted ... ORPHA:404440
Frontonasal Dysplasia 2
Aplasia of the nasal bone, Cleft ala nasi, Conical tooth, Depressed nasal ridge, Brachycephaly, W... OMIM:613451
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Flat occiput, Dental crowding, Micrognathia, High palate, Short philtrum, Microdontia, Abnormalit... ORPHA:251028
Chromosome 5Q12 Deletion Syndrome
Posteriorly rotated ears, Ventricular septal defect, Short neck, Micrognathia, Patent ductus arte... OMIM:615668
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Aplasia/Hypoplasia of the uvula, ... ORPHA:1597
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Abnormal pinna morphology, Ventricular septal defect, Short neck, Sensorineural hearing impairmen... ORPHA:52055
Fanconi Anemia, Complementation Group S
Epicanthus, Anteverted nares, Prominent nasal bridge, Macrodontia, Underdeveloped nasal alae, Den... OMIM:617883
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Abnormal dental enamel morphology, Supernumerary nipple, Cryptorchidism, Cleft palate, Hypoplasia... ORPHA:1812
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Slender nose, Epicanthus, Pursed lips, Micrognathia, Narrow mouth, Wide nasal bridge, Respiratory... ORPHA:562528
Char Syndrome
Patent ductus arteriosus, Protruding ear, Short philtrum, Low-set ears, Triangular mouth OMIM:169100
Stevenson-Carey Syndrome
Prominent nasal tip, Posteriorly rotated ears, Central hypoventilation, Anteverted nares, Underde... OMIM:611961
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Synophrys, Oligodontia, Aplasia of the distal phalanx of the 5th fing... ORPHA:364577
Prolidase Deficiency
Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Abnormality of the middle ear, Hea... ORPHA:742
Keppen-Lubinsky Syndrome
Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Abnormally large globe, Dyspnea, U... ORPHA:435628
Noonan Syndrome 4
Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Large for gestational age, Sparse e... OMIM:610733
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Camptodactyly of finger, Micrognathia,... ORPHA:246
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Epicanthus, Failure to thrive, Anteverted nares, Highly arched eyebrow,... OMIM:243310
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Thin upper lip vermilion, Epicanthus, Abnormal pinna morphology, Synophrys, Obesity, Wide nasal b... ORPHA:352530
Bor Syndrome
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... ORPHA:107
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Absent frontal sinuses, Conductive hearing impairment, Short 5th metaca... OMIM:311300
Microphthalmia With Limb Anomalies
Anophthalmia, Deep philtrum, Camptodactyly of 2nd-5th fingers, High palate, Foot oligodactyly, De... OMIM:206920
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Hypoplastic right heart, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Retro... OMIM:618142
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Epicanthus, Anteverted nares, Carious teeth, Deep philtrum, Ab... ORPHA:2701
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Diaphragmatic ... OMIM:608978
Ayme-Gripp Syndrome
Mandibular prognathia, Brachycephaly, Depressed nasal bridge, Wide nasal bridge, Microtia, Low-se... OMIM:601088
Ohdo Syndrome
Smooth philtrum, Epicanthus, Anteverted nares, Depressed nasal bridge, Hearing impairment, Microg... OMIM:249620
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Craniosynostosis, Brachycephal... ORPHA:314575
Chromosome 22Q11.2 Duplication Syndrome
Epicanthus, Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, Depressed nasa... OMIM:608363
Developmental And Epileptic Encephalopathy 63
Thin upper lip vermilion, Highly arched eyebrow, Bulbous nose, EEG with generalized epileptiform ... OMIM:617976
Keppen-Lubinsky Syndrome