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Gene: Qsox1 MGI:1330818

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Gene Summary

Name:
quiescin Q6 sulfhydryl oxidase 1
Synonyms:
QSOX,  1300003H02Rik,  Qscn6,  b2b2673Clo

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal coat/hair pigmentation Qsox1em1(IMPC)Kmpc HOM Late adult 1.64×10-05
increased circulating lactate dehydrogenase level Qsox1em1(IMPC)Kmpc HOM Late adult 6.65×10-08
decreased fasting circulating glucose level Qsox1em1(IMPC)Kmpc HOM   Late adult 4.53×10-06
increased grip strength Qsox1em1(IMPC)Kmpc HOM Late adult 4.10×10-05
decreased prepulse inhibition Qsox1em1(IMPC)Kmpc HOM Late adult 8.16×10-06
abnormal skin coloration Qsox1em1(IMPC)Kmpc HOM Late adult 4.36×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

1 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

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Human diseases caused by Qsox1 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.

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

The table below shows human diseases predicted to be associated to Qsox1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
14Q24.1Q24.3 Microdeletion Syndrome
Truncus arteriosus, Long philtrum, Ventricular septal defect, Wide nasal bridge, Atrial septal de... ORPHA:401935
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Gombo Syndrome
Clinodactyly, Radial deviation of finger, Abnormal heart morphology, Microphthalmia, Brachydactyly OMIM:233270
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal cardiac septum morphology, Upper limb phocomelia, Syndactyly, Abnormal hear... ORPHA:294975
Synpolydactyly 1
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... OMIM:186000
Orofaciodigital Syndrome Xviii
Genu valgum, Wide nasal bridge, Short philtrum, Diastema, Accessory oral frenulum, Single transve... OMIM:617927
Microphthalmia, Syndromic 12
Retrognathia, Anophthalmia, Ventricular septal defect, Wide nasal bridge, Micrognathia, Hypoplast... OMIM:615524
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Broad hallux, Complete a... OMIM:217095
Polydactyly, Preaxial Ii
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... OMIM:174500
Microphthalmia With Limb Anomalies
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... OMIM:206920
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Underdeveloped nasal alae, Abnormal aortic morphology, Truncus arteriosus, Ventricular septal def... ORPHA:2516
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Atrial septal defect, Tracheoesophageal fistula, Microphthalmi... ORPHA:261272
Chromosome 22Q11.2 Deletion Syndrome, Distal
Underdeveloped nasal alae, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Malar f... OMIM:611867
Mmep Syndrome
Triphalangeal thumb, Mandibular prognathia, Ventricular septal defect, Median cleft lip, Split fo... ORPHA:3434
17Q21.31 Microduplication Syndrome
High palate, Toe syndactyly, Micrognathia, Clinodactyly of the 5th finger, Short philtrum, Short ... ORPHA:217340
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Underdeveloped nasal alae, Truncus arteriosus, Ventricular septal defect, Short distal phalanx of... OMIM:601355
Meckel Syndrome, Type 8
Polydactyly, Cleft upper lip, Anophthalmia, Depressed nasal ridge, Pericardial effusion, Short no... OMIM:613885
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, High palate, Long philtrum, Deep philtrum, Ventricular septal defect, T... ORPHA:261120
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Micrognathia, Right ao... OMIM:231060
Adams-Oliver Syndrome 6
Hepatic fibrosis, Foot oligodactyly, Truncus arteriosus, Ventricular septal defect, Syndactyly, B... OMIM:616589
Rhombencephalosynapsis
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, S... ORPHA:59315
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Patent ductus arteriosus, High palate, Ventricular septal defect, Hypoplastic right... OMIM:618142
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly OMIM:174200
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... OMIM:174700
Feingold Syndrome 1
2-3 toe syndactyly, Asplenia, Wide nasal bridge, Micrognathia, Everted lower lip vermilion, Depre... OMIM:164280
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, High palate, Clinodactyly, Short nose, Cubitus valgus, Short foot, ... OMIM:300577
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Microg... OMIM:311895
Microgastria-Limb Reduction Defect Syndrome
Truncus arteriosus, Elbow dislocation, Phocomelia, Hepatomegaly, Ectrodactyly, Absent hand, Anoph... ORPHA:2538
Anencephaly 2
Anophthalmia, Cleft maxillary alveolar ridge, Bifid nose, Median cleft lip, Median cleft palate OMIM:619452
Frontonasal Dysplasia 1
Joint contracture of the hand, Hypoplastic frontal sinuses, Wide nasal bridge, Pectoral muscle hy... OMIM:136760
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Esophageal atresia, Coarctation of aorta, ... ORPHA:1923
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Foot polydactyly, Micrognathia, Bifid nose, Coarctation of aorta, Trac... ORPHA:268249
Acrocardiofacial Syndrome
Camptodactyly of finger, Cleft upper lip, Hallux valgus, Finger syndactyly, Truncus arteriosus, F... ORPHA:2008
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Santos Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... OMIM:613005
Orofaciodigital Syndrome Type 10
Short tibia, Cleft soft palate, Micrognathia, Metatarsal synostosis, Hypoplasia of proximal radiu... ORPHA:2756
Temtamy Syndrome
Short toe, Genu varum, Convex nasal ridge, Thick lower lip vermilion, Micrognathia, Aortic aneury... ORPHA:1777
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Anophthalmia, Truncus arteriosus, Ventricular septal defect, Wide nasal... OMIM:601186
Lissencephaly Syndrome, Norman-Roberts Type
Wide nose, Patent foramen ovale, Wide nasal bridge, Microretrognathia, Atrial septal defect, Addu... ORPHA:89844
Hydrolethalus
Retrognathia, Anophthalmia, Gingival cleft, Micrognathia, Bifid uvula, Submucous cleft hard palat... ORPHA:2189
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Patent ductus arteriosus, Ventricular sep... OMIM:615297
Congenital Contractural Arachnodactyly
Camptodactyly of finger, High palate, Mitral valve prolapse, Aortic aneurysm, Intestinal malrotat... ORPHA:115
Oculofaciocardiodental Syndrome
2-3 toe syndactyly, Abnormal cardiac septum morphology, Delayed eruption of teeth, Peripheral pul... ORPHA:2712
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu... OMIM:174400
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Abnormal hand morphology, Short 5th metacarpal, Bicuspid aortic valve, ... ORPHA:228190
Pierre Robin Syndrome And Oligodactyly
Hand oligodactyly, Micrognathia, Pierre-Robin sequence, Cleft palate OMIM:172880
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Esophageal atresia, Transposition of the great arteries, Hand poly... OMIM:314390
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Abnormal mitral valve morphology, Micrognathia, Abnormal palate morphology, T... ORPHA:1277
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia ... ORPHA:3426
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Short nose, Thin upper lip vermilion, Anteverted nares, Cleft palate ORPHA:2015
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Microphthalmia, Rocker bottom foot, Cleft palate, Talipes equinovarus OMIM:616570
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin, Recurrent hypoglycemia OMIM:609197
Syndactyly, Type Iv
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... OMIM:186200
Skraban-Deardorff Syndrome
Thick upper lip vermilion, Ventricular septal defect, Widely spaced teeth, Micrognathia, Hyperpla... OMIM:617616
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Short toe, Short 5th metacarpal, Bicuspid aortic valve, Short finger, C... OMIM:604381
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Esophageal atresia, Bilateral ... OMIM:300514
Orofaciodigital Syndrome Xi
Gastroesophageal reflux, Wide nasal bridge, Hypoplasia of the odontoid process, Cleft palate, Bul... OMIM:612913
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Ventricular septal defect, Vascular ring, Atrial septal defect, Postaxial... OMIM:603387
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal stenosis, Esophageal atresia, Missing ribs, Clinodactyly of the 5th finger, Short nose, T... OMIM:619859
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus OMIM:234280
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Orofacial cleft OMIM:611638
Temtamy Preaxial Brachydactyly Syndrome
Abnormally large globe, Micrognathia, Microdontia, Tibial deviation of the 2nd toe, Short hallux,... ORPHA:363417
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Patent ductus arteriosus, Anophthalmia, Ventricular septal defect, Esophageal a... ORPHA:77298
Heterotaxy, Visceral, 4, Autosomal
Midline liver, Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposi... OMIM:613751
Pierre Robin Syndrome
Pierre-Robin sequence, Micrognathia, Cor pulmonale, Cleft palate, Glossoptosis OMIM:261800
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Ivic Syndrome
Absent thumb, Short femur, Thrombocytopenia, Short 1st metacarpal, Carpal synostosis, Carpal bone... OMIM:147750
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Ventricular septal defect, Abnormal morphology of the radius, Anal a... ORPHA:3469
Braddock-Carey Syndrome 2
Retrognathia, Pierre-Robin sequence, Wide mouth, Clinodactyly, Bulbous nose, Microphthalmia, Clef... OMIM:619981
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary ... ORPHA:210122
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Patent ductus arterio... ORPHA:2547
Jawad Syndrome
Absent fourth finger distal interphalangeal crease, Retrognathia, Prominent nose, Hallux valgus, ... OMIM:251255
Acces Syndrome
Retrognathia, Hip dysplasia, Hip dislocation, Clinodactyly of the 5th finger, Tracheoesophageal f... OMIM:619959
Czeizel-Losonci Syndrome
High palate, 2-3 finger syndactyly, Micrognathia, Clubbing of toes, Tracheoesophageal fistula, Sp... ORPHA:2437
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Thin up... OMIM:601927
Mullegama-Klein-Martinez Syndrome
Polydactyly, Prominent nose, Long philtrum, Abnormal cardiac septum morphology, Wide nasal bridge... OMIM:301022
Delpire-Mcneill Syndrome
Tracheoesophageal fistula, Hip dislocation, Ventricular septal defect, Dysphagia OMIM:619083
3P25.3 Microdeletion Syndrome
Tapered finger, 2-3 finger syndactyly, Micrognathia, Broad hallux, Overlapping toe, Cleft palate,... ORPHA:435638
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Subvalvular aortic stenosis, 2-3 toe syndactyly, 2-3 finger syndactyly, Coarctation of aorta, Bro... OMIM:217085
Velocardiofacial Syndrome
Retrognathia, Underdeveloped nasal alae, Pierre-Robin sequence, Ventricular septal defect, Interr... OMIM:192430
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Anophthalmia Plus Syndrome
Non-midline cleft lip, Anophthalmia, Abnormal nasal morphology, Choanal atresia, Deviation of fin... ORPHA:1104
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metacarpal, Wide nasal bridge, Micrognathia, A... ORPHA:1278
Acropectoral Syndrome
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx OMIM:605967
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Tracheal stenosis, Tracheoesophageal fistula, Abnormality of ... ORPHA:93941
Stankiewicz-Isidor Syndrome
Retrognathia, 2-3 toe syndactyly, Absent thumb, Patent ductus arteriosus, Prominent nose, Truncus... OMIM:617516
Cardioacrofacial Dysplasia 1
Conical tooth, Atrioventricular canal defect, Genu valgum, Overhanging nasal tip, Short philtrum,... OMIM:619142
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
You-Hoover-Fong Syndrome
Vascular ring, Clinodactyly, Accessory oral frenulum, Coarctation of aorta, Double aortic arch, B... OMIM:616954
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Hypoplasia of the radius, Micro... ORPHA:958
Biemond Syndrome Type 2
Preaxial polydactyly, Microphthalmia ORPHA:141333
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly o... ORPHA:2370
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Trisomy 1Q
Camptodactyly of finger, Patent ductus arteriosus, Wide nose, Preaxial hand polydactyly, Anophtha... ORPHA:261344
Oculocerebrocutaneous Syndrome
Anophthalmia, Cleft ala nasi, Congenital hip dislocation, Microphthalmia, Cleft palate OMIM:164180
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Micrognathia, Cleft palate, Narrow greater sciatic notch, Short ribs, Esophageal div... OMIM:617925
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Clinodactyly, Depressed nasal bridge, Narrow mouth, Malar flatte... OMIM:615984
Phocomelia, Schinzel Type
Foot oligodactyly, Humeroradial synostosis, High, narrow palate, Hypoplasia of the radius, Radial... ORPHA:2879
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Coxa valga, Truncus arteriosus, Toe syndactyly, Smooth philtrum, Cleft p... ORPHA:261330
Maxillonasal Dysplasia
Abnormal nostril morphology, Mandibular prognathia, Depressed nasal ridge, Microdontia, Short nos... ORPHA:1248
Non-Distal Trisomy 10Q
Aplasia/Hypoplasia affecting the eye, Convex nasal ridge, High palate, Micrognathia, Short nose, ... ORPHA:1695
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Cerebrooculonasal Syndrome
Abnormal nostril morphology, High palate, Anophthalmia, Long philtrum, Widely spaced teeth, Micro... ORPHA:66625
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Preaxial hand polydactyly, Broad nasal tip, Large hands, Orofacial cleft ORPHA:85287
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Bifid tongue, Hypoplastic facial bones, Cleft palate, Narrow greater sciatic notch, ... OMIM:616300
Trisomy 13
Patent ductus arteriosus, Anophthalmia, Long philtrum, Ventricular septal defect, Aplasia/Hypopla... ORPHA:3378
Emanuel Syndrome
Patent ductus arteriosus, Gastroesophageal reflux, Broad jaw, High palate, Delayed eruption of pr... OMIM:609029
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Retrognathia, Mesomelic leg shortening, Micrognathia, Bowing of the legs... OMIM:249710
Orofaciodigital Syndrome Xvii
Retrognathia, Polydactyly, Prominent nose, Short middle phalanx of the 2nd finger, Clinodactyly, ... OMIM:617926
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... ORPHA:1106
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Thick lower lip vermilion, Long ... ORPHA:969
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... ORPHA:3104
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndacty... ORPHA:1617
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Syndactyly-Polydactyly-Earlobe Syndrome
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... OMIM:186350
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Preaxial hand polydactyly, High palate, Abnormality of the elbow, Rhizomelia... ORPHA:3098
Stromme Syndrome
Jejunal atresia, Wide mouth, Wide nasal bridge, Micrognathia, Optic nerve hypoplasia, Intestinal ... OMIM:243605
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Atrioventricular canal defect, Micrognathia, Pulmonary artery dilatation, Pulmonary art... OMIM:265380
Heterotaxy, Visceral, 12, Autosomal
Abdominal situs ambiguus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... OMIM:619702
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... OMIM:618780
Duane-Radial Ray Syndrome
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Choanal atresia, Vascular dilata... OMIM:607323
Fanconi Anemia
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Toe syndactyly, Aplasia/H... ORPHA:84
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Absent thumb, Anemia, Wide nasal bridge, Esophageal atresia, Micrognathia, De... OMIM:614083
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short toe, Genu valgum, Capitate-hamate fusion, Short metacarpal, Short long bone, Hip dysplasia,... OMIM:614078
Catel-Manzke Syndrome
Metatarsus valgus, Camptodactyly of finger, Ventricular septal defect, Micrognathia, Oral synechi... ORPHA:1388
Treacher-Collins Syndrome
Hypoplasia of the thymus, Wide nasal bridge, Micrognathia, Tooth agenesis, Cleft palate, Glossopt... ORPHA:861
Microphthalmia, Syndromic 8
Cleft upper lip, Mandibular prognathia, Split foot, Microphthalmia, Widely-spaced maxillary centr... OMIM:601349
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Broad nasal tip, Bifid nasal... OMIM:300484
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Mohr Syndrome
Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Median cleft lip,... OMIM:252100
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
2-3 toe syndactyly, Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Wide nas... ORPHA:508498
Gracile Bone Dysplasia
Asplenia, Slender long bone, Ankyloglossia, Flared metaphysis, Microphthalmia, Brachydactyly, Hyp... OMIM:602361
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Rubinstein-Taybi Syndrome 1
Polydactyly, Convex nasal ridge, Wide nasal bridge, Micrognathia, Flared iliac wing, Duplication ... OMIM:180849
Emanuel Syndrome
Truncus arteriosus, Ectopic anus, Delayed eruption of teeth, Micrognathia, Bifid uvula, Dysphagia... ORPHA:96170
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... OMIM:613854
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Microgn... ORPHA:90652
Heterotaxy, Visceral, 7, Autosomal
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,... OMIM:616749
Van Esch-O'Driscoll Syndrome
Retrognathia, Pulmonary valve atresia, Ventricular septal defect, Wide mouth, Esophageal atresia,... OMIM:301030
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Mandibular aplasia, Depressed nasal ridge, Micrognathia, Gingival fibromatosis, Med... ORPHA:1832
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... ORPHA:1834
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Esophageal atresia, Micrognathia, Atrial septal defect, Broad thumb, Microphth... OMIM:614526
Congenital Tracheomalacia
Patent ductus arteriosus, Gastroesophageal reflux, Tracheobronchomalacia, Cardiomegaly, Anomalous... ORPHA:95430
Orofaciodigital Syndrome Type 6
Lobulated tongue, High palate, Tongue nodules, Foot polydactyly, Micrognathia, Mesoaxial polydact... ORPHA:2754
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Ventricular septal defect, Wide nasal bridge, Micrognathia, Short philtrum, Downturne... ORPHA:93267
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Wide nasal bridge, Micrognathia, Bifid uvula, Abnormal oral frenulum morpholo... ORPHA:404440
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Genu varum, Mandibular prognathia, Convex nasal ridge, Arteriovenous malformation, Abnormal aorti... ORPHA:1110
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Split foot, Split hand, Malar flattening, Cleft palate OMIM:183700
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Short philtrum, Everted lower lip vermilion, Abnormal spaced incisors, Broad nasal ... ORPHA:411986
Multiple Synostoses Syndrome 3
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... OMIM:612961
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Clinodactyly of the 5th finger, Tracheoesophageal fistula, Abnormal pa... ORPHA:3068
Femoral-Facial Syndrome
Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Toe syndactyly, Aplasia/hypo... OMIM:134780
Opitz Gbbb Syndrome
Ectopic anus, Wide nasal bridge, Micrognathia, Dysphagia, Cleft palate, Aortic root aneurysm, Pat... ORPHA:2745
Vacterl/Vater Association
Anorectal anomaly, Non-midline cleft lip, Preaxial hand polydactyly, Abnormality of the pancreas,... ORPHA:887
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Aplasia/hypoplasia involving bones of the extremiti... ORPHA:3384
Ring Chromosome 8 Syndrome
Deviation of finger, Abnormal palate morphology, Anteverted nares, Short nose ORPHA:1450
Arthrogryposis, Distal, Type 1C
Camptodactyly of finger, Wrist flexion contracture, Retrognathia, Hip contracture, High palate, E... OMIM:619110
Pierpont Syndrome
Wide nose, Short toe, Short foot, Prominent median palatal raphe, Widely spaced teeth, Short fing... OMIM:602342
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Ascending tubular aorta aneurysm, Truncus arteriosus, Micrognathia, Microdontia, Bifid uvula, Cam... OMIM:612474
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Schisis Association
Anal atresia, Tracheoesophageal fistula, Micromelia, Cleft palate, Unilateral cleft lip ORPHA:63862
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Preaxial hand polydactyly, Long philtrum, Pear-shaped nose, Thin upper lip vermilion, Interphalan... OMIM:606242
Fibular Hemimelia
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Limb undergrow... ORPHA:93323
Non-Distal Trisomy 13Q
Aplasia/Hypoplasia affecting the eye, High palate, Long philtrum, Micrognathia, Short nose, Evert... ORPHA:1702
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Overlapping toe, Dysphagia, Cleft palate, Patent foramen ovale, Overhanging nasal tip, Ventricula... OMIM:618494
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Wide nasal bridge, Overlapping toe, Smooth philtrum, Cutaneous syndactyly, Double outlet right ve... OMIM:618316
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Wide nose, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistu... OMIM:619227
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Wide mouth, Clinodactyly of the 5th finger, Short nose, Delayed erupti... OMIM:618506
Facial Clefting, Oblique, 1
Cleft palate, Deep palmar crease, Cleft upper lip, Microphthalmia OMIM:600251
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatic fibrosis, Truncus arteriosus, Malformation of the hepatic ductal plate, Femoral... OMIM:615415
Ciliary Dyskinesia, Primary, 40
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... OMIM:618300
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly,... OMIM:227646
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Edinburgh Malformation Syndrome
Aplasia/Hypoplasia affecting the eye, Micrognathia, Ulnar deviation of finger, Short nose, Downtu... ORPHA:1895
Esophageal Atresia
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... ORPHA:1199
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly, Median cleft palate ORPHA:2432
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Fryns Syndrome
Non-midline cleft lip, Ectopic anus, Abnormal cardiac septum morphology, Wide nasal bridge, Micro... ORPHA:2059
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Short ribs, Radial bowing, Micrognathia, Missing ribs, Ulnar bowing, Micromel... OMIM:617866
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Patent ductus arteriosus, Anemia, High palate, Megaloblastic anemia, Glossitis, Pancytopenia, Sto... OMIM:277380
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Bifid tongue, Cleft palate, Talipes equinovarus, Short ribs, Absent tibia, Hypoplasia of the ulna... OMIM:613091
Burn-Mckeown Syndrome
Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilateral choanal atresia, Abn... ORPHA:1200
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Retrognathia, Patent ductus arteriosus, Cleft upper lip, Ventricular hypertr... OMIM:612561
Thakker-Donnai Syndrome
Ventricular septal defect, Anal atresia, Tracheoesophageal fistula, Downturned corners of mouth, ... ORPHA:1780
Jackson-Weiss Syndrome
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Mandibular prognathia, Con... ORPHA:1540
Chromosome 3Pter-P25 Deletion Syndrome
Atrioventricular canal defect, Tapered finger, Wide nasal bridge, Micrognathia, Overlapping toe, ... OMIM:613792
Charlie M Syndrome
Triphalangeal thumb, Non-midline cleft lip, Finger syndactyly, Wide nasal bridge, Micrognathia, A... ORPHA:1406
Solitary Median Maxillary Central Incisor
Cleft upper lip, Abnormal nasopharynx morphology, Anophthalmia, Prominent median palatal raphe, T... OMIM:147250
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of... OMIM:155050
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Short long bone, Short ribs, Femoral bowing, Syndactyly, Depressed nas... OMIM:615503
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Ulnar devi... ORPHA:1529
Acromelic Frontonasal Dysostosis
Short tibia, Polydactyly, Cleft upper lip, Patellar hypoplasia, Wide nasal bridge, Dilation of Vi... OMIM:603671
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Patent ductus arteriosus, Coxa valga, Abnormal metaphysi... ORPHA:166272
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Rhizomelia, Wide mouth, Microgn... ORPHA:163966
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Ventricular septal defect, Syndactyly, Depressed nasal bridge, Microphthalmia, Smoot... OMIM:602501
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Structural Heart Defects And Renal Anomalies Syndrome
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Ove... OMIM:617478
Trisomy 12P
Aplasia/Hypoplasia affecting the eye, Wide nasal bridge, Aplasia/Hypoplasia of the iris, Microgna... ORPHA:1699
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Gastroesophageal reflux, High palate, Pierre-Robin sequence, Wide nasal bridge, Micrognathia, Cli... OMIM:613604
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... OMIM:618167
Hamel Cerebro-Palato-Cardiac Syndrome
Wide nasal bridge, Micrognathia, Atrial septal defect, Narrow mouth, Arachnodactyly, Malar flatte... ORPHA:93946
Cerebrooculonasal Syndrome
Narrow palate, Anophthalmia, High palate, Long philtrum, Proboscis, Optic nerve hypoplasia, Short... OMIM:605627
Teebi Hypertelorism Syndrome 2
High palate, Delayed eruption of teeth, Microdontia, Clinodactyly of the 5th finger, Short nose, ... OMIM:619736
Mosaic Trisomy 14
Camptodactyly of finger, Aplasia/Hypoplasia affecting the eye, High palate, Ectopic anus, Wide mo... ORPHA:1703
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Congenital Hypothyroidism
Abnormal pericardium morphology, Prolonged neonatal jaundice, Depressed nasal ridge, Macroglossia... ORPHA:442
Mosaic Trisomy 1
Camptodactyly of finger, Wide nasal bridge, 2-3 finger syndactyly, Toe syndactyly, Elbow flexion ... ORPHA:1692
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Long philtrum, Wide nasal bridge, Micrognathia, Gingival overgrowth, Clinodact... OMIM:618529
Microcephaly-Microcornea Syndrome, Seemanova Type
Retrognathia, Narrow mouth, High palate, Microphthalmia ORPHA:2528
Pfeiffer Syndrome
Short middle phalanx of toe, Mandibular prognathia, High palate, Finger syndactyly, Humeroradial ... OMIM:101600
Moebius Syndrome
Short phalanx of finger, Hand clenching, Abnormal nasopharynx morphology, High palate, Aplasia/Hy... OMIM:157900
Clark-Baraitser Syndrome
High palate, Long philtrum, Wide mouth, Clinodactyly, Short philtrum, Short nose, Thin upper lip ... OMIM:617752
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Aganglionic megacolon, Polysyndactyly of hallux, Ventricular septal de... OMIM:235750
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Abnormality of the elbow, High palate, Long philtrum, Micrognathia, Flat acetabular r... ORPHA:163649
Fetal Trimethadione Syndrome
High palate, Ventricular septal defect, Micrognathia, Atrial septal defect, Short nose, Depressed... ORPHA:1913
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Morphological abnormality of the ... ORPHA:141127
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Microdontia, Short distal phalanx of toe, Bilateral triphalangeal thumbs, Atrial se... OMIM:619356
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Patent ductus arteriosus, Abnormality of the philtrum, High palate, Wide... ORPHA:2863
Scimitar Syndrome
Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep... ORPHA:185
Charge Syndrome
Micrognathia, Secundum atrial septal defect, Dysphagia, Bilateral talipes equinovarus, Cleft pala... OMIM:214800
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Prominent nose, Small hand, Micrognathia, Clinodactyly of the 5th finger, Long nasal bridge, Over... OMIM:617755
Acromegaloid Facial Appearance Syndrome
Tapered finger, Short 5th metacarpal, Deep philtrum, Micrognathia, Bulbous nose, Large hands, Thi... OMIM:102150
Distal Trisomy 18Q
Camptodactyly of finger, High palate, Micrognathia, Abnormality of dental morphology, Clinodactyl... ORPHA:1716
Infantile Myofibromatosis
Neoplasm of the pancreas, Gingival fibromatosis, Tracheoesophageal fistula, Abnormal intestine mo... ORPHA:2591
Pierpont Syndrome
Short toe, Widely spaced teeth, Short finger, Everted lower lip vermilion, Thin upper lip vermili... ORPHA:487825
Endocrine-Cerebroosteodysplasia
Thick upper lip vermilion, Wide nasal bridge, Micrognathia, Median cleft lip, Depressed nasal tip... OMIM:612651
Vacterl With Hydrocephalus
Retrognathia, Anophthalmia, Absence of the sacrum, Hypoplasia of the radius, Micrognathia, Esopha... ORPHA:3412
Chromosome 1P36 Deletion Syndrome, Proximal
Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Coronary ... OMIM:619343
Pallister-Hall-Like Syndrome
Short ribs, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial foot polydactyly, Median cle... OMIM:241800
Otopalatodigital Syndrome, Type I
Short 4th metacarpal, Coxa valga, Abnormality of the fifth metatarsal bone, Selective tooth agene... OMIM:311300
Seckel Syndrome 2
Prominent nose, Micrognathia, Microdontia, Clinodactyly of the 5th finger, Microglossia, Micropht... OMIM:606744
Intellectual Developmental Disorder, Autosomal Dominant 23
Long philtrum, Wide nasal bridge, Micrognathia, Thin upper lip vermilion, Downturned corners of m... OMIM:615761
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Underdeveloped nasal alae, Aplasia/Hypoplasia affecting the eye, Wide na... ORPHA:1794
Sweeney-Cox Syndrome
Asplenia, Wide nasal bridge, Micrognathia, 2-4 finger syndactyly, Bilateral talipes equinovarus, ... OMIM:617746
Stevenson-Carey Syndrome
Underdeveloped nasal alae, Gastroesophageal reflux, Pierre-Robin sequence, Joint contracture of t... OMIM:611961
Cofs Syndrome
Camptodactyly of finger, Wide nasal bridge, Abnormal nasal morphology, Micrognathia, Everted lowe... ORPHA:1466
Microphthalmia With Brain And Digit Anomalies
High palate, Finger syndactyly, Anophthalmia, Postaxial foot polydactyly, Microphthalmia, Proxima... ORPHA:139471
Microphthalmia, Syndromic 2
2-3 toe syndactyly, Delayed eruption of teeth, Bifid uvula, Broad hallux, 2-3 toe cutaneous synda... OMIM:300166
Periventricular Nodular Heterotopia 7
1-4 toe syndactyly, 2-3 toe syndactyly, Pierre-Robin sequence, Ventricular septal defect, 4-5 fin... OMIM:617201
Sandestig-Stefanova Syndrome
Retrognathia, Convex nasal ridge, High palate, Wide nasal bridge, Perimembranous ventricular sept... OMIM:618804
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Rhizomelic Dysplasia, Patterson-Lowry Type
Wide nose, Genu valgum, Mandibular prognathia, Coxa vara, Short metacarpal, Rhizomelia, Depressed... ORPHA:2831
C Syndrome
Wide nasal bridge, Toe syndactyly, Micrognathia, Hip dislocation, Dislocated radial head, Radial ... OMIM:211750
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Long philtrum, Microretrognathia, Short nose, Abnormal palate morphology, Postaxial hand polydactyly ORPHA:1389
Desbuquois Dysplasia 1
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... OMIM:251450
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Short ribs, Micrognathia, Flared metaphysis, Depressed nas... OMIM:215045
Carpenter Syndrome 1
Coxa valga, Toe syndactyly, Micrognathia, Flared iliac wing, Camptodactyly, Metatarsus adductus, ... OMIM:201000
Holzgreve Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip, Hand polydactyly OMIM:236110
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Fetal Minoxidil Syndrome
Micrognathia, Depressed nasal bridge, Clinodactyly of the 5th finger, Ventricular septal defect ORPHA:1918
Laurin-Sandrow Syndrome
Triphalangeal thumb, Underdeveloped nasal alae, Aplasia/Hypoplasia of the thumb, Preaxial hand po... ORPHA:2378
Trisomy 4P
Camptodactyly of finger, Preaxial hand polydactyly, Radial club hand, Abnormal palate morphology,... ORPHA:1738
Orofaciodigital Syndrome X
Retrognathia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Depresse... OMIM:165590
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corner... ORPHA:94066
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Narrow mouth, Anteverted nares ORPHA:1355
Acrocephalopolydactyly
Depressed nasal ridge, Short long bone, Hepatosplenomegaly, Short nose, Limb undergrowth, Brachyd... ORPHA:221054
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Truncus arteriosus, Wide nasal bridge, Micrognathia, Retinal arteriolar... ORPHA:567
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Orofaciodigital Syndrome Iv
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Mic... OMIM:258860
Combined Oxidative Phosphorylation Deficiency 25
Vascular dilatation, Long philtrum, Wide nasal bridge, Short nose, Depressed nasal bridge, Anteve... OMIM:616430
Chronic Granulomatous Disease
Gingivitis, Malabsorption, Liver abscess, Pyloric stenosis, Abnormality of neutrophils, Tracheoes... ORPHA:379
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Temtamy Syndrome
Convex nasal ridge, Long philtrum, Micrognathia, Aortic aneurysm, Hip dislocation, Short 2nd toe,... OMIM:218340
Johnson Neuroectodermal Syndrome
Retrognathia, Patent ductus arteriosus, Choanal stenosis, Ventricular septal defect, Anosmia, Car... OMIM:147770
8Q24.3 Microdeletion Syndrome
Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Cleft maxillary alveolar rid... ORPHA:508488
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
2-3 toe syndactyly, Tapered finger, Wide nasal bridge, Micrognathia, Dysphagia, Scapular winging,... OMIM:617061
Hartsfield Syndrome
Non-midline cleft lip, Depressed nasal bridge, Aplasia/Hypoplasia of the radius, Microphthalmia, ... ORPHA:2117
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Charge Syndrome
Aortic arch aneurysm, Abnormal cardiac septum morphology, Delayed eruption of teeth, Abnormal sof... ORPHA:138
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Finger syndactyly, Wide nasal bridge, Toe syndactyly, Preaxial foot po... ORPHA:380
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Hypoglossia With Situs Inversus
Asplenia, High palate, Micrognathia, Polysplenia, Hypodontia, Microglossia, Narrow mouth, Situs i... OMIM:612776
Meckel Syndrome
Pancreatic cysts, Asplenia, Preaxial hand polydactyly, Aplasia/Hypoplasia of the tongue, Anophtha... ORPHA:564
Carpenter Syndrome
Patent ductus arteriosus, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial f... ORPHA:65759
Kapur-Toriello Syndrome
Camptodactyly of finger, Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Jo... OMIM:244300
16P12.1P12.3 Triplication Syndrome
Retrognathia, 2-3 toe syndactyly, Short 5th finger, Tapered finger, Hallux valgus, High, narrow p... ORPHA:485405
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Tapered fing... ORPHA:251071
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... OMIM:183600
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Hand clenching, Gastroesophageal reflux, Ventricular septal defect, Wide... OMIM:616920
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Short toe, Short 5th metacarpal, High palate, Pierre-Robin sequence, Long philt... OMIM:617877
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Perlman Syndrome
Retrognathia, Wide nasal bridge, Micrognathia, Broad alveolar ridges, Abnormal upper lip morpholo... ORPHA:2849
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Long philtrum, Atrial septal defect, Short nose, Sandal gap, Tetralogy o... OMIM:300887
Orofaciodigital Syndrome Vi
Toe syndactyly, Micrognathia, Short femur, Radial deviation of finger, Postaxial hand polydactyly... OMIM:277170
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Chronic rhinitis, Situs inversus totalis, Dextrocardia, Right aortic arch OMIM:617577
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Wide nasal bridge, 2-5 finger cutaneous syndactyly, Short philtrum, Sh... OMIM:601224
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Asplenia, Double outlet right ventricle, High palate, Unbalanced atriov... OMIM:619657
Right Atrial Isomerism
Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr... OMIM:208530
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Ventricular septal defect, Hyposmia, Atrial septal defect, Hepatic stea... OMIM:615996
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Widely spaced teeth, Micrognathia, Microdontia, Camptodactyly, Down-sloping shoulders,... OMIM:619694
Pelger-Huet Anomaly
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Abnormality of t... OMIM:169400
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Hydrolethalus Syndrome 2
Preaxial foot polydactyly, Micrognathia, Postaxial foot polydactyly, Postaxial hand polydactyly, ... OMIM:614120
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Patent foramen ovale, Mandibular prognathia, High palate, Ventricular septal defect, Wide mouth, ... ORPHA:369891
Chung-Jansen Syndrome
High palate, Tapered finger, Long philtrum, Hip dysplasia, Micrognathia, Clinodactyly of the 5th ... OMIM:617991
Otopalatodigital Syndrome Type 1
Hypoplastic frontal sinuses, Wide nasal bridge, Abnormality of the tarsal bones, Synostosis of ca... ORPHA:90650
Feingold Syndrome
Patent ductus arteriosus, Hallux valgus, Esophageal atresia, Toe syndactyly, Micrognathia, Annula... ORPHA:1305
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Narrow maxilla, High palate, Ventricular septal defect, Clinodactyly of the... OMIM:617602
3C Syndrome
Atrioventricular canal defect, Ectopic anus, Wide nasal bridge, Micrognathia, Cleft palate, Orofa... ORPHA:7
Acrocallosal Syndrome
Tapered finger, Everted upper lip vermilion, Abnormal cardiac septum morphology, Wide nasal bridg... OMIM:200990
Oculoauriculovertebral Spectrum With Radial Defects
Triphalangeal thumb, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Preaxial hand polyda... ORPHA:2549
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Bifid tongue, Micrognathia, Clinodactyly of... ORPHA:2001
Rhiny
Thin vermilion border, Anteverted nares, Short nose OMIM:180360
Congenital Rubella Syndrome
Patent ductus arteriosus, Anemia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Jaun... ORPHA:290
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Gastroesophageal reflux, Micrognathia, Short nose, Abnormal palate morph... ORPHA:1495
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short toe, Abnormally large globe, Mandibular prognathia, Tapered finger, Cleft upper lip, Wide n... OMIM:239300
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, High palate, Tooth agenesis, Microphthalmia, Cleft palate,... ORPHA:1135
Whistling Face Syndrome, Recessive Form
Underdeveloped nasal alae, High palate, Long philtrum, Micrognathia, Elbow flexion contracture, U... OMIM:277720
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
2-3 toe syndactyly, Wide nasal bridge, Smooth philtrum, Cleft palate, Short nose, Gastroesophagea... OMIM:614701
Pseudotrisomy 13 Syndrome
11 pairs of ribs, 2-3 toe syndactyly, Cleft upper lip, Ventricular septal defect, Anal atresia, M... OMIM:264480
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Patent ductus arteriosus, Short long bone, Short ribs, Coarse metaphyseal trabecularization, Shor... OMIM:618961
Mandibulofacial Dysostosis, Guion-Almeida Type
Preaxial hand polydactyly, Ventricular septal defect, Deep philtrum, Esophageal atresia, Microgna... OMIM:610536
Ring Chromosome 10 Syndrome
Tapered finger, Long philtrum, Wide nasal bridge, Micrognathia, Aganglionic megacolon, Microphtha... ORPHA:1438
17P13.3 Microduplication Syndrome
Wide nose, High palate, Clinodactyly of the 5th finger, Short nose, Congenital hip dislocation, N... ORPHA:217385
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Rhizomelia, Depressed nasal ridge,... OMIM:300863
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Holoprosencephaly
Median cleft lip, Tooth agenesis, Depressed nasal tip, Intestinal atresia, Choanal atresia, Aplas... ORPHA:2162
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tapered finger, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, ... OMIM:619148
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Finger syndactyly, Micrognathia, Brachydactyly, Short nose, Split hand, Micro... ORPHA:2145
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Rubinstein-Taybi Syndrome 2
Short 5th toe, Talon cusp, Dental malocclusion, Retrognathia, Narrow palate, Short first metatars... OMIM:613684
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Patent ductus arteriosus, Tapered finger, Ventricular septal defect, Interphalangeal thumb joint ... OMIM:613870
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Ventricular septal defect, Hand polydactyly, Atrial septal defect, Ever... OMIM:249670
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Patent ductus arteriosus, Pierre-Robin sequence, Abnormal cardiac septum morphology, Micrognathia... OMIM:217980
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Anorectal anomaly, Gingival overgrowth, Furrowed tongue ORPHA:1839
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Micrognathia, Abnormal dental enamel morphology, Abnormality of dental... OMIM:257850
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Meckel Syndrome, Type 5
Cleft upper lip, Postaxial foot polydactyly, Bile duct proliferation, Microphthalmia, Postaxial h... OMIM:611561
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Coxa vara, Long philtrum, Hip dysplasia, Preaxial foot polydacty... ORPHA:1988
Baraitser-Winter Syndrome 1
Retrognathia, Patent ductus arteriosus, Cleft upper lip, Long philtrum, Wide mouth, Wide nasal br... OMIM:243310
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus, Long philtrum, Toe syndactyly, Micrognathia, Radioulnar synostosis, Sho... ORPHA:171839
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Short toe, Dental malocclusion, Mandibular prognathia, High palate, Hall... ORPHA:1327
Congenitally Uncorrected Transposition Of The Great Arteries
Patent ductus arteriosus, Levotransposition of the great arteries, Ventricular septal defect, Abn... ORPHA:860
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Retrognathia, Abnormal metacarpal morphology, Elbow dislocation, Thin ve... ORPHA:2631
Pentasomy X
Camptodactyly of finger, Patent ductus arteriosus, Small hand, Abnormal cardiac septum morphology... ORPHA:11
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Vitamin K Antagonist Embryofetopathy
Aplasia/Hypoplasia affecting the eye, Epiphyseal stippling, Macroglossia, Short nose, Depressed n... ORPHA:1914
Septo-Optic Dysplasia Spectrum
Esophageal atresia, Septo-optic dysplasia, Optic nerve hypoplasia, Tracheoesophageal fistula, Ano... ORPHA:3157
Chromosome 6Q11-Q14 Deletion Syndrome
High palate, Long philtrum, Micrognathia, Short nose, Thin upper lip vermilion, Single transverse... OMIM:613544
Joubert Syndrome 18
Retrognathia, Lobulated tongue, Intrahepatic biliary atresia, Ventricular septal defect, Talipes ... OMIM:614815
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:618652
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Abnormal cardiac septum morpholog... ORPHA:1352
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, High palate, Hypoplasia of the thymus, Abnormality of the calcaneu... ORPHA:40366
Lethal Faciocardiomelic Dysplasia
Short tibia, Patent ductus arteriosus, Radial club hand, Short 5th finger, Hypoplasia of the radi... ORPHA:1972
Fetal Alcohol Syndrome
Non-midline cleft lip, Micrognathia, Microdontia, Atrial septal defect, Short nose, Thin upper li... ORPHA:1915
Brachytelephalangic Chondrodysplasia Punctata
Stippling of the epiphyses of the distal phalanges of the hand, Vertebral hypoplasia, Epiphyseal ... ORPHA:79345
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, 2-3 toe syndactyly, Double outlet right ventricle, High palate, Wide na... ORPHA:3304
Robinow Syndrome, Autosomal Dominant 2
Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Gingival overgrowth, Calvarial oste... OMIM:616331
Suleiman-El-Hattab Syndrome
Polydactyly, Patent foramen ovale, High palate, Long philtrum, Wide mouth, Ventricular septal def... OMIM:618950
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormality of the elbow, Deep philtrum, Thick lower lip vermilion, Short nose, Hypertrophic card... ORPHA:2701
Martinez-Frias Syndrome
Pancreatic hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Extrahepatic biliary duct ... OMIM:601346
Microcephaly-Capillary Malformation Syndrome
Wide nose, Patent foramen ovale, Ventricular septal defect, Clinodactyly, Atrial septal defect, S... OMIM:614261
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Widely spaced teeth, Wide nasal ... OMIM:617102
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Long philtrum, Deep philtrum, Wide nasal bridge, Microretrognathia, Short nose, Overlapping toe, ... OMIM:618571
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, High palate, Long philtrum, Micrognathia, Short nose ORPHA:2598
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Prominence of the zygomatic bone, Everted lower lip vermilion, Cleft palate, Apla... ORPHA:364577
Phaver Syndrome
Camptodactyly of finger, Triphalangeal thumb, Ventricular septal defect, Radioulnar synostosis, U... ORPHA:2876
Retinitis Pigmentosa 89
Hepatic fibrosis, Bicuspid aortic valve, Intrahepatic bile duct dilatation, Hepatosplenomegaly, M... OMIM:618955
Stickler Syndrome Type 1
Long philtrum, Mitral valve prolapse, Short nose, Hypoplasia of the maxilla, Cleft palate, Abnorm... ORPHA:90653
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication OMIM:188740
Acrodysostosis
Wide nasal bridge, Delayed eruption of teeth, Epiphyseal stippling, Short toe, Abnormal morpholog... ORPHA:950
Orofaciodigital Syndrome Type 2
Short tibia, Broad first metatarsal, Atrioventricular canal defect, Bifid tongue, Wide nasal brid... ORPHA:2751
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Micrognathia, Bifid uvula, Depressed nasal bridge, Anteverted nares, Arach... OMIM:604841
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal lower lip morphology, Abnormal aortic morphology, Ventricular septal defect, Micrognathi... ORPHA:1166
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... ORPHA:2791
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Joint contracture of the hand, Wide nasal bridge, Preaxial foot polyda... OMIM:175700
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Dental malocclusion, Anemia, Underdeveloped nasal alae, Narrow palate,... OMIM:617883
Cleft Palate, Isolated
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Vater/Vacterl Association
Triphalangeal thumb, Patent ductus arteriosus, Abnormal nasopharynx morphology, Ventricular septa... OMIM:192350
Bartsocas-Papas Syndrome 2
Small hand, 2-5 finger cutaneous syndactyly, Micrognathia, Microphthalmia, Absent distal phalange... OMIM:619339
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Long philtrum, Micrognathia, Elbow dislocation, Short nose, Dep... ORPHA:93328
Stormorken Syndrome
Asplenia, Anemia, Howell-Jolly bodies, Prominent nose, Short philtrum, Epistaxis, Stroke-like epi... OMIM:185070
Char Syndrome
Patent ductus arteriosus, Mesoaxial foot polydactyly, Ventricular septal defect, Short middle pha... ORPHA:46627
Robinow Syndrome, Autosomal Dominant 3
Short phalanx of finger, Bifid tongue, Wide nasal bridge, Micrognathia, Camptodactyly, Cleft pala... OMIM:616894
Peho-Like Syndrome
Retrognathia, Open mouth, Tapered finger, Short nose OMIM:617507
Tarp Syndrome
Short sternum, High palate, Glossoptosis, Tongue nodules, Hypoplasia of the radius, Micrognathia,... OMIM:311900
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Triphalangeal thumb, Patent ductus arteriosus, Atrioventricular canal defect, Preaxial hand polyd... ORPHA:1120
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Lymphadenopathy, Laryngotracheal stenosis, Dysphagia ORPHA:142
Townes-Brocks Syndrome 1
2-3 toe syndactyly, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatarsal synostosis, Ch... OMIM:107480
Fanconi Anemia, Complementation Group G
Anemia, Abnormal thumb morphology, Microphthalmia, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Nance-Horan Syndrome
Mandibular prognathia, Prominent nose, Short metacarpal, Supernumerary tooth, Microphthalmia, Pro... ORPHA:627
Adenylosuccinate Lyase Deficiency
Long philtrum, Short nose, Thin upper lip vermilion, Anteverted nares, Smooth philtrum ORPHA:46
Burn-Mckeown Syndrome
Underdeveloped nasal alae, 2-3 toe syndactyly, Cleft upper lip, Mandibular prognathia, Ventricula... OMIM:608572
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Cleft mandible, Exaggerated median tongue furrow, Micrognathia, Submucous cleft soft palate, Ever... OMIM:608670
Monosomy 18Q
Tapered finger, Secundum atrial septal defect, Left aortic arch with right descending aorta and r... ORPHA:1600
Warburg Micro Syndrome 1
Wide nasal bridge, Micrognathia, Overlapping toe, Narrow mouth, Microphthalmia, Anteverted nares,... OMIM:600118
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Codas Syndrome
Ventricular septal defect, Short metacarpal, Delayed eruption of teeth, Extrahepatic biliary duct... ORPHA:1458
Subaortic Stenosis-Short Stature Syndrome
Subvalvular aortic stenosis, Micrognathia, Synostosis of carpal bones, Microdontia, Biliary tract... ORPHA:3191
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Pfeiffer Syndrome Type 2
High palate, Finger syndactyly, Small hand, Toe syndactyly, Tracheomalacia, Anal atresia, Short n... ORPHA:93259
Lowry-Maclean Syndrome
Retrognathia, Talon cusp, Midgut malrotation, Atrioventricular canal defect, Convex nasal ridge, ... ORPHA:2409
Cornelia De Lange Syndrome 2
Gastroesophageal reflux, High palate, Limited elbow movement, Small hand, Micrognathia, Clinodact... OMIM:300590
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Micrognathia, Prominent nose, Microphthalmia, Talipes equinovarus OMIM:616171
Holoprosencephaly 9
Dental malocclusion, Agenesis of incisor, Cleft upper lip, Single naris, Anophthalmia, Hypoplasia... OMIM:610829
Mirage Syndrome
Patent ductus arteriosus, Gastroesophageal reflux, Leukopenia, Radial club hand, Achalasia, Esoph... OMIM:617053
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Underdeveloped nasal alae, High palate, Wide nasal bridge, Micrognathia, Clinodactyly of the 5th ... OMIM:248910
Hamamy Syndrome
Tapered finger, Wide nasal bridge, Micrognathia, Everted lower lip vermilion, Smooth philtrum, Hy... OMIM:611174
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Polydactyly, Convex nasal ridge, Micrognathia, Broad hallux, Abnormal subclavian artery morpholog... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Polydactyly, Convex nasal ridge, Micrognathia, Broad hallux, Abnormal subclavian artery morpholog... ORPHA:353277
Dyskeratosis Congenita
Neoplasm of the pancreas, Taurodontia, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopeni... ORPHA:1775
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Gillespie Syndrome
Hypoplasia of the iris, Truncus arteriosus, Aniridia OMIM:206700
Acrorenal Syndrome
Micrognathia, Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of... ORPHA:971
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Short ribs, Atrial septal defect, Depressed nasal bridge, Preaxial polydactyly... OMIM:616546
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Arthrogryposis, Distal, Type 2B1
Camptodactyly of finger, Absent phalangeal crease, Mandibular prognathia, High palate, Ulnar devi... OMIM:601680
22Q11.2 Duplication Syndrome
Wide nose, Ventricular septal defect, Depressed nasal ridge, Aplasia/Hypoplasia of the thymus, Mi... ORPHA:1727
Carpenter Syndrome 2
Wide nasal bridge, Camptodactyly, Talipes equinovarus, Narrow palate, Atrial septal defect, Dextr... OMIM:614976
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Patent foramen ovale, High palate, Long philtrum, Mitral valve prolapse, Camptodactyly, Dental cr... OMIM:615539
Oculodentodigital Dysplasia
Selective tooth agenesis, Microdontia, Taurodontia, Hip dislocation, Cleft palate, Broad alveolar... OMIM:164200
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
2-3 toe syndactyly, Gastroesophageal reflux, Cleft upper lip, Short 5th finger, Achalasia, Ventri... OMIM:600987
Cardiofacioneurodevelopmental Syndrome
Asplenia, Atrioventricular canal defect, Ventricular septal defect, Micrognathia, Camptodactyly, ... OMIM:619123
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Microphthalmia, Brachydactyly OMIM:610023
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft palate, Cleft upper lip, Microphthalmia OMIM:120433
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
2-3 toe syndactyly, Lobulated tongue, Clinodactyly of the 5th finger, Short philtrum, Short nose,... OMIM:613443
Meckel Syndrome, Type 2
Polydactyly, Intestinal malrotation, Bile duct proliferation, Microphthalmia, Postaxial hand poly... OMIM:603194
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Abdominal sit... OMIM:306955
Primary Ciliary Dyskinesia
Asplenia, Double outlet right ventricle, Nasal congestion, Bronchiectasis, Polysplenia, Chronic s... ORPHA:244
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anteriorly placed anus, Anophthalmia, Anal stenosis OMIM:248450
Pde4D Haploinsufficiency Syndrome
Short phalanx of finger, Micrognathia, Prominent nasal tip, Broad hallux, Abnormal dental enamel ... ORPHA:439822
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, High palate, Long philtrum, Abnormal cardiac septum morphology, Wide na... ORPHA:250989
Autosomal Recessive Omodysplasia
Rhizomelia, Long philtrum, Micrognathia, Abnormal morphology of the radius, Elbow dislocation, Sh... ORPHA:93329
Even-Plus Syndrome
Patent foramen ovale, High palate, Depressed nasal ridge, Hypodontia, Anal atresia, Atrial septal... OMIM:616854
Cerebrooculofacioskeletal Syndrome 4
Camptodactyly of finger, Wrist flexion contracture, Flexion contracture of toe, Slender long bone... OMIM:610758
Tetraploidy
Aplasia/Hypoplasia affecting the eye, Radial club hand, Convex nasal ridge, Aplasia/Hypoplasia of... ORPHA:3305
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Pierre-Robin sequence, Enlarged epiphyses, Epiphyseal dysplasia, Depressed nasal bridge, Antevert... OMIM:184840
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Long philtrum, Wide nasal bridge, Ulnar deviation of the wrist, Micrognathia, Clinodactyly, Short... OMIM:618577
Fibrochondrogenesis 2
Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Short long bone, Short ribs, Micro... OMIM:614524
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Absent nares, Single naris, Anophthalmia, Hyposmia, Bifid uvula, Submucous cleft hard palate, Fai... ORPHA:2250
Nevus Comedonicus Syndrome
Toe syndactyly, Preaxial polydactyly, Finger syndactyly ORPHA:64754
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Convex nasal ridge, Broad hallux, Talon cusp, Narrow palate, Avascular necrosis of the capital fe... ORPHA:353281
Zechi-Ceide Syndrome
Wide nose, Mandibular prognathia, Wide nasal bridge, Oligodontia, Short philtrum, Atrial septal d... ORPHA:217017
3Q29 Microduplication Syndrome
High palate, Ventricular septal defect, Ectopic anus, Deep philtrum, Toe syndactyly, Wide nasal b... ORPHA:251038
Cat Eye Syndrome
Patent ductus arteriosus, Biliary atresia, Rectal atresia, Ventricular septal defect, Volvulus, M... OMIM:115470
Teebi Hypertelorism Syndrome 1
Aortic root aneurysm, Small hand, Natal tooth, Long philtrum, Ventricular septal defect, Microgna... OMIM:145420
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Bifid tongue, Ectopic anus, Wide nasal bridge, Toe syndactyly, Micrognat... ORPHA:1507
Cohen Syndrome
Tapered finger, Micrognathia, Tooth agenesis, Gingival overgrowth, Genu valgum, Ventricular septa... ORPHA:193
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Iliac crest serration, Metaphyseal cupping, Vascular dilatation, Deep philtrum, Short ... OMIM:613320
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... ORPHA:2885
Sirenomelia
Tracheoesophageal fistula, Aplasia/Hypoplasia of the radius, Anal atresia, Absence of the sacrum ORPHA:3169
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Patent ductus arteriosus, Patent fora... OMIM:600001
Adams-Oliver Syndrome
Leukopenia, Abnormality of the upper limb, Cirrhosis, Finger syndactyly, Pulmonary artery atresia... ORPHA:974
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Wide nasal bridge, Aplasia/hypoplasia of the femur, Toe syndactyly, Flar... OMIM:609945
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Radioulnar dislocation, High palate, Hypoplastic ilia, Abnormality of the elbow, Hip dysplasia, E... ORPHA:93359
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Enamel hypoplasia, Wide nasal bridge, Microdontia, Oligodonti... OMIM:618727
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Retrognathia, Short nose, Broad nasal tip, Malar flattening, Open mouth OMIM:613670
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Retrognathia, 2-3 toe syndactyly, Patent foramen ovale, Mandibular prognathia, Micrognathia, Lens... OMIM:618914
Joubert Syndrome 10
Deep philtrum, Wide nasal bridge, Postaxial polydactyly, Thick vermilion border OMIM:300804
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Tapered finger, Wide nasal bridge, Clinodactyly, Epiphyseal dysplasia, ... OMIM:607131
Mandibulofacial Dysostosis-Microcephaly Syndrome
Preaxial hand polydactyly, Micrognathia, Atrial septal defect, Short nose, Hypoplasia of the maxi... ORPHA:79113
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Ventricular hypertrophy, Patent foramen ovale, Ulnar deviation of the hand or of fingers of the h... OMIM:602613
Pallister-Hall Syndrome
Short 4th metacarpal, Toe syndactyly, Hip dislocation, Distal shortening of limbs, Postaxial hand... OMIM:146510
Facial Paresis, Hereditary Congenital, 3
High palate, Micrognathia, Short philtrum, Short nose, Downturned corners of mouth, Depressed nas... OMIM:614744
Marshall Syndrome