Gene Summary

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

IMPC Data Collections

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
decreased fasting circulating glucose level Qsox1em1(IMPC)Kmpc HOM   Late adult 4.53×10-06
abnormal skin coloration Qsox1em1(IMPC)Kmpc HOM Late adult 9.41×10-06
decreased prepulse inhibition Qsox1em1(IMPC)Kmpc HOM Late adult 7.41×10-07
increased grip strength Qsox1em1(IMPC)Kmpc HOM Late adult 3.76×10-05
abnormal auditory brainstem response Qsox1em1(IMPC)Kmpc HOM   Early adult 9.72×10-05
increased circulating lactate dehydrogenase level Qsox1em1(IMPC)Kmpc HOM Late adult 7.22×10-07
increased heart weight Qsox1em1(IMPC)Kmpc HOM Late adult 7.64×10-05
abnormal coat/hair pigmentation Qsox1em1(IMPC)Kmpc HOM Late adult 4.33×10-06

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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

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

Eye Morphology

Images Slit Lamp

1 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
14Q24.1Q24.3 Microdeletion Syndrome
Short nose, Dislocated radial head, Limited elbow extension and supination, Truncus arteriosus, P... ORPHA:401935
Microphthalmia, Syndromic 12
Retrognathia, Microphthalmia, Anophthalmia, Hypoplastic left atrium, Intestinal malrotation, Micr... OMIM:615524
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Anal... OMIM:174200
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Sandal gap, Mesoaxial polydactyly... ORPHA:93403
Gombo Syndrome
Microphthalmia, Radial deviation of finger, Abnormal heart morphology, Brachydactyly, Clinodactyly OMIM:233270
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Congenital malformation of the great arteries, Abnorma... ORPHA:294975
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
17Q12 Microduplication Syndrome
Microphthalmia, Finger syndactyly, Tracheoesophageal fistula, Cleft palate, Toe syndactyly, Atria... ORPHA:261272
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Coarctation of ao... OMIM:217095
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Microphthalmia With Limb Anomalies
Retrognathia, Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocati... OMIM:206920
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Short philtrum, Accessory oral frenulum, Sandal gap, Single tr... OMIM:617927
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Bilateral single transverse palmar creases, High, narrow palate, Truncus arteriosus, Abnormal aor... ORPHA:2516
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Cleft palate, Malar flattening, Smooth philtrum, Thin upper lip vermilion, Un... OMIM:611867
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
17Q21.31 Microduplication Syndrome
Short nose, Clinodactyly of the 5th finger, Short philtrum, Sandal gap, Anteverted nares, High pa... ORPHA:217340
Mmep Syndrome
Orofacial cleft, Microphthalmia, Triphalangeal thumb, Mandibular prognathia, Split foot, Ventricu... ORPHA:3434
Verheij Syndrome
Retrognathia, Short nose, Optic nerve hypoplasia, Anteverted nares, Truncus arteriosus, Clinodact... OMIM:615583
Meckel Syndrome, Type 8
Polydactyly, Short nose, Microphthalmia, Anophthalmia, Depressed nasal ridge, Pericardial effusio... OMIM:613885
14Q11.2 Microdeletion Syndrome
Short nose, Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Toe ... ORPHA:261120
Genitopalatocardiac Syndrome
Transposition of the great arteries, Right aortic arch, Cleft upper lip, Micrognathia, Cleft pala... OMIM:231060
Adams-Oliver Syndrome 6
Truncus arteriosus, Esophageal varix, Portal hypertension, Foot oligodactyly, Splenomegaly, Synda... OMIM:616589
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Cleft palate, Short distal phalanx of finger, Ventricular septal defect, Unde... OMIM:601355
Epilepsy, Familial Adult Myoclonic, 1
Enhancement of the C-reflex, EEG with irregular generalized spike and wave complexes, Giant somat... OMIM:601068
Rhombencephalosynapsis
Polydactyly, Short nose, Aganglionic megacolon, Esophageal atresia, Finger syndactyly, Anteverted... ORPHA:59315
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Preaxial polydactyly, Ventricular septal defect, High palate, Bilateral talipes equ... OMIM:618142
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Abnormal finger morphology, Amelia, Oligodactyly, Tracheoesophageal fistula, Inte... ORPHA:2538
Intellectual Developmental Disorder, X-Linked 91
Short nose, Cubitus valgus, High palate, Clinodactyly, Short 5th finger, Short foot, Macrodontia,... OMIM:300577
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Glossoptosis,... OMIM:311895
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Mycophenolate Mofetil Embryopathy
Tessier cleft, Orofacial cleft, Microphthalmia, Tracheomalacia, Tracheoesophageal fistula, Foot p... ORPHA:268249
Feingold Syndrome 1
Everted lower lip vermilion, Tracheoesophageal fistula, Tricuspid atresia, Accessory spleen, Ante... OMIM:164280
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Frontonasal Dysplasia 1
Joint contracture of the hand, Microphthalmia, Radial deviation of finger, Short columella, Pecto... OMIM:136760
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Methimazole Embryofetopathy
Esophageal atresia, Abnormal aortic morphology, Choanal atresia, Tracheoesophageal fistula, Coarc... ORPHA:1923
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus, Syndactyly OMIM:215850
Acrocardiofacial Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Hallux valgus, Truncus arteriosus, Split hand,... ORPHA:2008
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Hydrolethalus
Retrognathia, Gingival cleft, Microphthalmia, Anophthalmia, Postaxial hand polydactyly, Micromeli... ORPHA:2189
Orofaciodigital Syndrome Type 10
Retrognathia, Mesomelic arm shortening, Oligodactyly, Prominent calcaneus, Long philtrum, Accesso... ORPHA:2756
Anencephaly 2
Anophthalmia, Median cleft palate, Bifid nose, Cleft maxillary alveolar ridge, Median cleft upper... OMIM:619452
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Temtamy Syndrome
Abnormal palate morphology, Microphthalmia, Thick lower lip vermilion, Clinodactyly of the 5th fi... ORPHA:1777
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Wide nose, Patent foramen ovale, Hypoplastic spleen, Dysphagia, Microretrogna... ORPHA:89844
Adams-Oliver Syndrome 4
Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes... OMIM:615297
Skraban-Deardorff Syndrome
Absent cupid's bow, Widely spaced teeth, Anteverted nares, Right aortic arch, Thick upper lip ver... OMIM:617616
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ... ORPHA:228190
Fliedner-Zweier Syndrome
Long philtrum, Hypoplastic aortic arch, High palate, Tracheoesophageal fistula, Anal atresia, Bic... OMIM:620511
Congenital Contractural Arachnodactyly
Aortic aneurysm, High palate, Tracheoesophageal fistula, Intestinal malrotation, Arachnodactyly, ... ORPHA:115
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Orofacial cleft, 2-3 toe syndactyly, Postaxial hand polydactyly, Coarctation of aorta, Broad hall... OMIM:217085
Polydactyly, Preaxial I
Preaxial hand polydactyly, Radial deviation of thumb terminal phalanx, Partial duplication of thu... OMIM:174400
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Abnormal shoulder morphology, Tooth agenesis, Abnormal mitral valve m... ORPHA:1277
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares, Micrognathia, Cleft palate, Thin upper lip vermilion ORPHA:2015
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Clinodactyly of the 5th finger, Pseudocoarctation of the aorta, Short toe, Brachyda... OMIM:604381
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Microphthalmia, Micrognathia, Cleft palate, Talipes equinovarus OMIM:616570
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Esophageal atre... OMIM:314390
Microphthalmia, Syndromic 9
Multilobulated spleen, Right aortic arch with mirror image branching, Bilateral microphthalmos, A... OMIM:601186
Pierre Robin Syndrome
Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate, Cor pulmonale OMIM:261800
Oculofaciocardiodental Syndrome
Microphthalmia, Solitary median maxillary central incisor, Bifid nasal tip, Intestinal malrotatio... ORPHA:2712
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Postaxial polydactyly, Vascular ring, Atrial septal defect, Ventricular s... OMIM:603387
Double Outlet Right Ventricle
Truncus arteriosus, Pulmonary artery atresia, Ventricular septal defect, Narrow mouth, Pulmonic s... ORPHA:3426
Anophthalmia Plus Syndrome
Tessier cleft, Anophthalmia, Non-midline cleft of the upper lip, Bilateral cleft palate, Choanal ... ORPHA:1104
Orofaciodigital Syndrome Xi
Gastroesophageal reflux, Postaxial polydactyly, Hypoplasia of the odontoid process, Cleft palate,... OMIM:612913
Phosphoribosylaminoimidazole Carboxylase Deficiency
Short nose, Bilateral choanal atresia, Clinodactyly of the 5th finger, Esophageal atresia, Anteve... OMIM:619859
Fanconi Anemia, Complementation Group B
Aplastic anemia, Esophageal atresia, Optic disc hypoplasia, Tracheoesophageal fistula, Bilateral ... OMIM:300514
Jawad Syndrome
Retrognathia, Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th fing... OMIM:251255
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Broad nasal tip, Patent ductus arteriosus, Overriding aorta, Atrial septal defect,... OMIM:601927
3P25.3 Microdeletion Syndrome
Microphthalmia, Proximal placement of thumb, Pulmonic stenosis, Broad thumb, Overlapping toe, Sho... ORPHA:435638
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Orofacial cleft, Microphthalmia, Anophthalmia OMIM:611638
Delpire-Mcneill Syndrome
Ventricular septal defect, Dysphagia, Tracheoesophageal fistula, Hip dislocation OMIM:619083
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Right aortic ar... OMIM:613751
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, 11 pairs of ribs, Esophageal atresia, Anophthalmia, Tracheoesophageal fistula, Pa... ORPHA:77298
Temtamy Preaxial Brachydactyly Syndrome
Radial deviation of finger, Clinodactyly of the 2nd finger, Microdontia, Abnormal spaced incisors... ORPHA:363417
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Pierre-Robin sequence, Cleft palate, Finger aplasia OMIM:172880
Braddock-Carey Syndrome 2
Retrognathia, Microphthalmia, Pierre-Robin sequence, Wide mouth, Thrombocytopenia, Cleft palate, ... OMIM:619981
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Genu valgum, Short philtrum, Conical tooth, Hypoplasia of the maxi... OMIM:619142
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Acces Syndrome
Retrognathia, Clinodactyly of the 5th finger, Ectrodactyly, Tracheoesophageal fistula, Split foot... OMIM:619959
Pallister-Hall Syndrome
Microphthalmia, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda... OMIM:146510
Czeizel-Losonci Syndrome
Dextrocardia, Hitchhiker thumb, Single transverse palmar crease, High palate, Ectrodactyly, Trach... ORPHA:2437
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ... ORPHA:210122
Ivic Syndrome
Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ... OMIM:147750
Velocardiofacial Syndrome
Retrognathia, Right aortic arch with mirror image branching, Abnormality of the hand, Interrupted... OMIM:192430
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Short nose, Microphthalmia, Camptodactyly of finger, Micrognathia, Duodenal stenosis, Symphalangi... ORPHA:2547
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Vascular ring, Cleft palate, Brachydactyly, Accessory o... OMIM:616954
Cerebrooculonasal Syndrome
Tessier cleft, Abnormal nostril morphology, Widely spaced teeth, Solitary median maxillary centra... ORPHA:66625
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Stankiewicz-Isidor Syndrome
Retrognathia, 2-3 toe syndactyly, Truncus arteriosus, Micrognathia, Absent thumb, Short thumb, Pa... OMIM:617516
Xk Aprosencephaly Syndrome
Abnormal nostril morphology, Microphthalmia, Narrow mouth, Anal atresia, Atrial septal defect, Ve... ORPHA:3469
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Tracheoesophageal fistula, Abnormal mesentery morphology, Abnormality of the s... ORPHA:93941
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx OMIM:605967
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Mandibular prognathia, Open bite, Microdontia, Tooth age... ORPHA:1248
Brachydactyly-Preaxial Hallux Varus Syndrome
Abnormal palate morphology, Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Mi... ORPHA:1278
Distal 22Q11.2 Microdeletion Syndrome
Sandal gap, Arachnodactyly, Short distal phalanx of finger, Coxa valga, Truncus arteriosus, Choan... ORPHA:261330
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Biemond Syndrome Type 2
Preaxial polydactyly, Microphthalmia ORPHA:141333
Oculocerebrocutaneous Syndrome
Microphthalmia, Cleft ala nasi, Anophthalmia, Congenital hip dislocation, Cleft palate OMIM:164180
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Orofacial cleft, Hypoplasia of the radius, Short philtrum, Rudimentary fi... ORPHA:958
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Short nose, Clinodactyly of the 5th finger... ORPHA:2370
Mesomelic Limb Shortening And Bowing
Retrognathia, Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Microg... OMIM:249710
Phocomelia, Schinzel Type
Hypoplasia of the radius, High, narrow palate, Fibular aplasia, Aplasia/Hypoplasia of the sacrum,... ORPHA:2879
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Orofaciodigital Syndrome Xvii
Polydactyly, Retrognathia, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal,... OMIM:617926
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Narrow mouth, Postaxial polydactyly, Malar flattening, Clinodact... OMIM:615984
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ... ORPHA:1106
Non-Distal Duplication 10Q
Short nose, High palate, Everted lower lip vermilion, Aplasia/Hypoplasia affecting the eye, Micro... ORPHA:1695
Trisomy 1Q
Wide nose, Anophthalmia, Narrow mouth, Anal atresia, Arachnodactyly, Camptodactyly of finger, Cle... ORPHA:261344
Emanuel Syndrome
Broad jaw, Gastroesophageal reflux, Low hanging columella, Dental crowding, Truncus arteriosus, H... OMIM:609029
Trisomy 13
Bilateral single transverse palmar creases, High, narrow palate, Microphthalmia, Anophthalmia, Ap... ORPHA:3378
Fryns Microphthalmia Syndrome
Tessier cleft, Microphthalmia, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip OMIM:600776
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Microphthalmia, Short ribs, Short long bone, Absent nasal bridge, E... OMIM:617925
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
X-Linked Intellectual Disability, Siderius Type
Orofacial cleft, Cleft upper lip, Large hands, Broad nasal tip, Preaxial hand polydactyly ORPHA:85287
Treacher-Collins Syndrome
Retrognathia, Microphthalmia, Glossoptosis, Tracheoesophageal fistula, Tooth agenesis, Wide mouth... ORPHA:861
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Microphthalmia, Short ribs, Short long bone, Flat acetabular roof, ... OMIM:616300
Acromicric Dysplasia
Short nose, Thick lower lip vermilion, Abnormal femur morphology, Anteverted nares, Narrow mouth,... ORPHA:969
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... ORPHA:3104
Schisis Association
Tracheoesophageal fistula, Anal atresia, Micromelia, Cleft palate, Unilateral cleft lip ORPHA:63862
Weiss-Kruszka Syndrome
Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Single transverse palmar... ORPHA:502430
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Stromme Syndrome
Short columella, Preaxial polydactyly, Microphthalmia, Accessory spleen, Optic nerve hypoplasia, ... OMIM:243605
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
2Q24 Microdeletion Syndrome
Microphthalmia, Short philtrum, Abnormal oral frenulum morphology, Bullet-shaped distal phalanx o... ORPHA:1617
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Microphthalmia, Anemia, Esophageal atresia, Tracheoesophageal fistula, Anal a... OMIM:614083
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Short nose, Gingival fibromatosis, Anteverted nares, Gingival overgrowth, Mandibula... ORPHA:1832
Congenital Tracheomalacia
Partial anomalous pulmonary venous return, Esophageal atresia, Gastroesophageal reflux, Tracheoma... ORPHA:95430
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Retrognathia, Broad finger, Abnormal nostril morphology, Abnormal left ventr... OMIM:300845
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Broad distal phalanx of finger, Abnormal oral frenulum morphology, Intestinal mal... ORPHA:404440
Fanconi Anemia
Abnormal carotid artery morphology, Microphthalmia, Abnormal femur morphology, Arteriovenous malf... ORPHA:84
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Duane-Radial Ray Syndrome
Microphthalmia, Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Abnor... OMIM:607323
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Microphthalmia, Syndromic 8
Orofacial cleft, Microphthalmia, Mandibular prognathia, Split foot, Cleft upper lip, Cleft palate... OMIM:601349
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia, Broad thumb, Long philtrum, Bicuspid aortic valve, Short ... ORPHA:508498
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Short nose, Genu valgum, Irregular epiphyses of ... OMIM:614078
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Flared metaphysis, Slender long bone, Ankyloglossia, Asplenia, Hypoplas... OMIM:602361
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease, Cleft upper lip, Cleft palate, Tessier number 4 facial cleft OMIM:600251
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Glossoptosis, Oral synechia, Radial deviation of the 2nd finger, ... ORPHA:1388
Rubinstein-Taybi Syndrome 1
Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Dental crowding, Hypoplasti... OMIM:180849
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Orofaciodigital Syndrome Ii
Bifid nasal tip, Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, P... OMIM:252100
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Emanuel Syndrome
Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Dysphagia, Long philtrum,... ORPHA:96170
Orofaciodigital Syndrome Viii
Polydactyly, Bifid nasal tip, High palate, Cleft palate, Broad nasal tip, Syndactyly, Short tibia... OMIM:300484
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Retrognathia, Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Dysplastic ... OMIM:265380
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Chronic rhinitis, Conge... OMIM:618300
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, High palate, Abnormal epiphysis morpho... ORPHA:3098
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Chromosome 17Q12 Duplication Syndrome
Microphthalmia, Esophageal atresia, Cleft soft palate, Broad thumb, Micrognathia, Smooth philtrum... OMIM:614526
Otopalatodigital Syndrome Type 2
Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Anodontia, Abnormal cardiac septum ... ORPHA:90652
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Short philtrum, Anophthalmia, Anteverted nares, Everted lower lip vermilion, Abnormal spaced inci... ORPHA:411986
Pierpont Syndrome
Thin vermilion border, Short finger, Widely spaced teeth, Deep palmar crease, Microphthalmia, Wid... OMIM:602342
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Short ph... ORPHA:93267
Axial Mesodermal Dysplasia Spectrum
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Gingival ... ORPHA:1834
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Orofaciodigital Syndrome Type 6
Preaxial polydactyly, Finger clinodactyly, Mesoaxial polydactyly, High palate, Central Y-shaped m... ORPHA:2754
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Cardi... OMIM:620642
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Hyperpigmentation of th... ORPHA:189
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... OMIM:612961
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Pear-shaped nose, Interphalangeal joint contracture of finger, Long philtrum, Thin upper lip verm... OMIM:606242
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Short nose, Triangular mouth, Cleft soft palate, Sandal gap, Anteverted nares, Gin... OMIM:618529
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Prominent fingertip pads, Abnormal heart morphology, Dysphagia, Long philtrum, Ov... OMIM:618494
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal palate morphology, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniof... ORPHA:3068
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Split foot, Micrognathia, Cleft palate, Malar flattening, Toe syndactyly OMIM:183700
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Convex nasal ridge, Arteriovenous malformation, Abnormal aortic arch morphology, Abnormal hip bon... ORPHA:1110
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Retrognathia, Short nose, Clinodactyly of the 5th finger, Esophageal atr... OMIM:301030
Vacterl/Vater Association
Abnormality of the gallbladder, Anorectal anomaly, Tracheal stenosis, Non-midline cleft of the up... ORPHA:887
Ring Chromosome 8 Syndrome
Deviation of finger, Abnormal palate morphology, Short nose, Anteverted nares ORPHA:1450
Opitz Gbbb Syndrome
Tracheoesophageal fistula, Abnormal heart morphology, Dysphagia, Long philtrum, Anteverted nares,... ORPHA:2745
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia, Prominent fingertip pads, Microdontia, Broad thumb, Bifid uvula, Long philtrum, S... OMIM:612474
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Oligodacty... ORPHA:93323
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Absent... OMIM:134780
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Esophageal Atresia
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Laryngotr... ORPHA:1199
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Intestinal malrotation, Long philtrum, Overlapping toe, Long toe, Mesenteric cyst, Short philtrum... OMIM:618316
Diamond-Blackfan Anemia 6
Retrognathia, Triphalangeal thumb, Macrocytic anemia, Tracheomalacia, Increased mean corpuscular ... OMIM:612561
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Muscular ventricular septal defect, Esophageal atresia, Wide nose, Choanal atresia,... OMIM:619227
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Thin vermilion border, Retrognathia, Clinodactyly of the 5th finger, Shoulder... OMIM:619110
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Exaggerated cup... OMIM:618506
Jackson-Weiss Syndrome
Convex nasal ridge, Abnormal palate morphology, Abnormal fibula morphology, Short metatarsal, Man... ORPHA:1540
Fanconi Anemia, Complementation Group D2
Annular pancreas, Microphthalmia, Anemia, Esophageal atresia, Pancytopenia, Reticulocytopenia, Tr... OMIM:227646
Edinburgh Malformation Syndrome
Thin vermilion border, Short nose, Anteverted nares, Narrow mouth, Choanal atresia, Slender finge... ORPHA:1895
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Anemia, Dextrocardia, Pancytopenia, Stomatitis, Glossitis, Megaloblastic anemia, Hi... OMIM:277380
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly, Median cleft palate ORPHA:2432
Non-Distal Duplication 13Q
Thin vermilion border, Short nose, High palate, Abnormality of the dentition, Everted lower lip v... ORPHA:1702
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Hepatomegaly, Truncus arteriosus, Cholestasis, Femoral bowing, Hypertroph... OMIM:615415
Chromosome 3Pter-P25 Deletion Syndrome
Retrognathia, Long philtrum, Overlapping toe, Anteverted nares, Broad nasal tip, Bulbous nose, Th... OMIM:613792
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Short ri... OMIM:617866
Fryns Syndrome
Microphthalmia, Abnormal aortic arch morphology, Intestinal malrotation, Wide mouth, Short distal... ORPHA:2059
Pfeiffer Syndrome
Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Dent... OMIM:101600
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Short ribs, Femoral bowing, Short long bone, Absent tibia, Intestinal malrotation, Cone-shaped ep... OMIM:613091
Solitary Median Maxillary Central Incisor
Microphthalmia, Solitary median maxillary central incisor, Anophthalmia, Prominent median palatal... OMIM:147250
Burn-Mckeown Syndrome
Abnormal palate morphology, Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide n... ORPHA:1200
Clark-Baraitser Syndrome
Short nose, Short philtrum, Sandal gap, Low hanging columella, Anteverted nares, Exaggerated cupi... OMIM:617752
Charlie M Syndrome
Thin vermilion border, Triphalangeal thumb, Abnormal metacarpal morphology, Short philtrum, Finge... ORPHA:1406
Thakker-Donnai Syndrome
Transposition of the great arteries, Rectovaginal fistula, Anteverted nares, Narrow mouth, Trache... ORPHA:1780
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the nose, Underdeveloped nasal alae, Abnormality of the dentition, ... ORPHA:1794
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Arachnodactyly, Micrognathia, Cleft palate, Malar flattening, Atrial septal defect,... ORPHA:93946
Maxillonasal Dysplasia, Binder Type
Short nose, Short distal phalanx of finger, Dental malocclusion, Depressed nasal bridge, Short co... OMIM:155050
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Short ribs, Femoral bowing, Short long bone, Ventricular septal defect, Ace... OMIM:615503
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Microphthalmia, Depressed nasal bridge, Syndactyly, Smooth philtrum, Ventricular sep... OMIM:602501
Odontochondrodysplasia
Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Short nose, Delayed eruption of... ORPHA:166272
Craniofacial-Deafness-Hand Syndrome
Short nose, Abnormality of the wrist, Narrow mouth, Depressed nasal ridge, Hypoplasia of the maxi... ORPHA:1529
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Clinodactyly of the 5th finger, Sandal gap, Long nasal bridge, Narrow mouth, Slender finger, Micr... OMIM:617755
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short nose, Microphthalmia, Rhizomelia, Short philtrum, Hypoplastic iliac wing, Abnormality of th... ORPHA:163966
Fetal Trimethadione Syndrome
Bilateral single transverse palmar creases, Short nose, Transposition of the great arteries, High... ORPHA:1913
Linear Skin Defects With Multiple Congenital Anomalies 2
Short nose, Microphthalmia, Sandal gap, Ventricular hypertrophy, Tetralogy of Fallot, Long philtr... OMIM:300887
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Mosaic Trisomy 14
Bilateral single transverse palmar creases, Anteverted nares, Ectopic anus, High palate, Aplasia/... ORPHA:1703
Teebi Hypertelorism Syndrome 2
Short nose, Clinodactyly of the 5th finger, Delayed eruption of teeth, High palate, Everted lower... OMIM:619736
Vacterl With Hydrocephalus
Retrognathia, Hypoplasia of the radius, Microphthalmia, Esophageal atresia, Anophthalmia, Anal at... ORPHA:3412
Moebius Syndrome
Microphthalmia, Radial deviation of finger, High palate, Abnormality of the dentition, Camptodact... OMIM:157900
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Cerebrooculonasal Syndrome
Narrow palate, Short nose, Solitary median maxillary central incisor, Proboscis, Anophthalmia, Op... OMIM:605627
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Short nose, Gastroesophageal reflux, Single transverse palmar crease, Anteverted nares, High pala... OMIM:613604
Mosaic Trisomy 1
Rocker bottom foot, Microphthalmia, Broad 2nd toe, Arachnodactyly, Wide mouth, Long toe, Deviatio... ORPHA:1692
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short nose, Anteverted nares, Short distal phalanx of toe, Narrow mouth, Microdontia, Bilateral t... OMIM:619356
Pierpont Syndrome
Thin vermilion border, Short finger, Widely spaced teeth, Deep palmar crease, Microphthalmia, Lon... ORPHA:487825
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, Retrognathia, Microphthalmia, High palate ORPHA:2528
Trisomy 12P
Short nose, Clinodactyly of the 5th finger, Everted lower lip vermilion, Anal atresia, Aplasia/Hy... ORPHA:1699
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Tetralogy of F... OMIM:617478
Pallister-Hall-Like Syndrome
Short nose, Short ribs, Postaxial hand polydactyly, Micromelia, Micrognathia, Cleft palate, Posta... OMIM:241800
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Ventricular septal defect, Aganglionic megacolon, Preaxial foot polydac... OMIM:235750
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Short nose, Microphthalmia, Abnormal femoral neck/head morphology, Abnormality of the elbow, Hemi... ORPHA:163649
Periventricular Nodular Heterotopia 7
Short nose, 1-4 toe syndactyly, Clinodactyly of the 5th finger, Dental crowding, 2-3 toe syndacty... OMIM:617201
Charge Syndrome
Microphthalmia, Anosmia, Tracheoesophageal fistula, Absent tibia, Pulmonic stenosis, Abnormal pal... OMIM:214800
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Abnormal tracheobronchial morphol... ORPHA:141127
Endocrine-Cerebroosteodysplasia
Sandal gap, Tibial bowing, Syndactyly, Bilateral cleft lip, Fibular bowing, Micromelia, Depressed... OMIM:612651
Distal Duplication 18Q
Bilateral single transverse palmar creases, Short nose, Clinodactyly of the 5th finger, Anteverte... ORPHA:1716
Chromosome 1P36 Deletion Syndrome, Proximal
Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Anteverted nares, Patent... OMIM:619343
Stevenson-Carey Syndrome
Left superior vena cava draining to coronary sinus, Microphthalmia, Gastroesophageal reflux, Ante... OMIM:611961
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Gastrointestinal hemorrhage, Optic nerve hypoplasia, Abnormal heart morpholog... ORPHA:508488
Sweeney-Cox Syndrome
Short distal phalanx of finger, Short philtrum, Patent foramen ovale, Choanal atresia, Asplenia, ... OMIM:617746
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Dental crowding, Anteverted nares, Postaxial polydact... OMIM:615761
Microphthalmia, Syndromic 2
Microphthalmia, Sandal gap, Bifid nasal tip, Aortic valve stenosis, Pulmonic stenosis, Bifid uvul... OMIM:300166
Sandestig-Stefanova Syndrome
Rocker bottom foot, Orofacial cleft, Perimembranous ventricular septal defect, Muscular ventricul... OMIM:618804
Infantile Myofibromatosis
Abnormal metaphysis morphology, Intestinal obstruction, Neoplasm of the pancreas, Gingival fibrom... ORPHA:2591
Cofs Syndrome
Microphthalmia, Everted lower lip vermilion, Camptodactyly of finger, Micrognathia, Abnormal nasa... ORPHA:1466
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High... ORPHA:2863
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Bardet-Biedl Syndrome 19
Hyposmia, Y-shaped metacarpals, Partial atrioventricular canal defect, Postaxial polydactyly, Pat... OMIM:615996
Acrocephalopolydactyly
Short nose, Short long bone, Depressed nasal ridge, Limb undergrowth, Hepatosplenomegaly, Brachyd... ORPHA:221054
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Proximal placement of thumb, Anophthalmia, Finger syndactyly, High palate, Postax... ORPHA:139471
Hypoglossia With Situs Inversus
Situs inversus totalis, Narrow mouth, High palate, Asplenia, Micrognathia, Microglossia, Hypodont... OMIM:612776
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, High palate, Choanal atresia, Tooth agenesis, Cleft palate, Abnormality of the se... ORPHA:1135
Carpenter Syndrome 1
Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Genu var... OMIM:201000
16P12.1P12.3 Triplication Syndrome
Long philtrum, Thin vermilion border, High, narrow palate, Abnormal tricuspid valve morphology, R... ORPHA:485405
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Genu valgum, Rhizomelia, Wide nose, Mandibular prognathia, Short metacarpal, Deformed... ORPHA:2831
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Abnormality of the hand, Bilateral microphthalmos, Widely spaced teeth, Short nose, Patent forame... ORPHA:369891
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplication, Hip dislocation OMIM:223200
C Syndrome
Radial deviation of finger, Dislocated radial head, Short metacarpal, Wide mouth, Accessory oral ... OMIM:211750
Desbuquois Dysplasia 1
Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Long phi... OMIM:251450
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Microphthalmia, Abnormal aortic arch morphology, Anorectal anomaly, ... ORPHA:567
Fetal Minoxidil Syndrome
Micrognathia, Ventricular septal defect, Clinodactyly of the 5th finger, Depressed nasal bridge ORPHA:1918
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Laurin-Sandrow Syndrome
Abnormality of the nose, Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, A... ORPHA:2378
Temtamy Syndrome
Microphthalmia, Aortic aneurysm, Dental crowding, Short 2nd toe, Hypoplasia of teeth, Micrognathi... OMIM:218340
Trisomy 4P
Abnormal palate morphology, Radial club hand, Abnormality of the dentition, Carious teeth, Campto... ORPHA:1738
Holzgreve Syndrome
Cleft upper lip, Hand polydactyly, Cleft palate, Hypoplastic left heart OMIM:236110
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormal palate morphology, Short nose, Postaxial hand polydactyly, Microretrognathia, Long philtrum ORPHA:1389
Hartsfield Syndrome
Microphthalmia, Non-midline cleft of the upper lip, Split hand, Cleft palate, Aplasia/Hypoplasia ... ORPHA:2117
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Y-shaped metatarsals, Postaxial hand polydactyly, 3-4 finger syndactyly, Anal... OMIM:175700
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Widely spaced teeth, Cubitus valgus, Wide nose, Anteverted nares, Camptodactyly, ... OMIM:619694
Charge Syndrome
Microphthalmia, Anosmia, Tracheoesophageal fistula, Dysphagia, Bifid femur, Abnormal cardiac sept... ORPHA:138
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Retrognathia, Sandal gap, Dental crowding, Dysphagia, Long philtrum, Short philtrum, Oligodontia,... OMIM:617061
Orofaciodigital Syndrome X
Retrognathia, Fibular aplasia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescen... OMIM:165590
Orofaciodigital Syndrome Vi
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... OMIM:277170
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Short nose, Abnormal oral cavity morphology, Anteverted nares, Narrow mouth, Depressed nasal ridge ORPHA:1355
Orofaciodigital Syndrome Iv
Short finger, Short tibia, Tongue nodules, High palate, Foot polydactyly, Postaxial polydactyly, ... OMIM:258860
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Broad hallux phalanx, Preaxial hand p... ORPHA:380
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli... OMIM:183600
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the hand, Short philtrum, Ectopic anus, Mandibular ... ORPHA:94066
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Perimembranous ventricular septal defect, Transposition of the great arteries, Clinod... OMIM:617877
Chung-Jansen Syndrome
Thin vermilion border, Short nose, Clinodactyly of the 5th finger, Short philtrum, Anteverted nar... OMIM:617991
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short nose, Aganglionic megacolon, Short philtrum, Abnormally large globe, Mandibular prognathia,... OMIM:239300
Joubert Syndrome 18
Retrognathia, Intrahepatic biliary atresia, Bowing of the long bones, Camptodactyly, Postaxial po... OMIM:614815
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Bilateral cleft palate, Abnormal aortic morphology, Intestinal ma... ORPHA:2001
Meckel Syndrome
Situs inversus totalis, Microphthalmia, Accessory spleen, Anophthalmia, Aplasia/Hypoplasia of the... ORPHA:564
Carpenter Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Finger syndactyly, Postaxial hand polydactyly, Bro... ORPHA:65759
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Giant platelets, Upper limb undergrowth, Gingival overgrowth, ... OMIM:169400
Perlman Syndrome
Bilateral single transverse palmar creases, Retrognathia, High, narrow palate, Hepatomegaly, Shor... ORPHA:2849
Bartsocas-Papas Syndrome 2
Microphthalmia, Bilateral cleft palate, Absent distal phalanges, Micrognathia, 2-5 finger cutaneo... OMIM:619339
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Mandibulofacial Dysostosis, Guion-Almeida Type
Short nose, Esophageal atresia, Proximal placement of thumb, Anteverted nares, Choanal atresia, S... OMIM:610536
8P23.1 Microdeletion Syndrome
Thin vermilion border, Short nose, Transposition of the great arteries, Atrioventricular canal de... ORPHA:251071
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Bilateral single transverse palmar creases, Atrial septal defect, Partial anomalous pulmonary ven... OMIM:619657
Kapur-Toriello Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Microphthalmia, Low hang... OMIM:244300
Chondrodysplasia, Blomstrand Type
Flared metaphysis, Short ribs, Micromelia, Preductal coarctation of the aorta, Micrognathia, Adva... OMIM:215045
Vater/Vacterl Association
Hypoplasia of the radius, Preaxial polydactyly, Transposition of the great arteries, Triphalangea... OMIM:192350
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch, Chronic rhinitis, Bronchiectasis OMIM:617577
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Potocki-Shaffer Syndrome
Short nose, Short philtrum, Single transverse palmar crease, 2-5 finger cutaneous syndactyly, Dow... OMIM:601224
Pseudotrisomy 13 Syndrome
Microphthalmia, Tricuspid atresia, Dextrocardia, 11 pairs of ribs, 2-3 toe syndactyly, Postaxial ... OMIM:264480
Whistling Face Syndrome, Recessive Form
Trismus, Shoulder flexion contracture, Underdeveloped nasal alae, Whistling appearance, Narrow mo... OMIM:277720
Otopalatodigital Syndrome Type 1
Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Short hallux, Abnormal ... ORPHA:90650
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Broad thumb, Mesomelia, Wide mouth, Short distal phalanx of finger, Long philtru... OMIM:616331
Rhiny
Thin vermilion border, Short nose, Anteverted nares OMIM:180360
Right Atrial Isomerism
Situs inversus totalis, Right atrial isomerism, Transposition of the great arteries, Dextrocardia... OMIM:208530
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Abnormality of the palmar creases, Patent foramen ovale, Downturned corners of mo... OMIM:618652
Oculoauriculovertebral Spectrum With Radial Defects
Short mandibular rami, Orofacial cleft, Atrioventricular canal defect, Triphalangeal thumb, Aplas... ORPHA:2549
Congenital Heart Defects And Skeletal Malformations Syndrome
Thin vermilion border, Long nose, Short nose, Clinodactyly of the 5th finger, Sandal gap, Aortic ... OMIM:617602
Brachytelephalangic Chondrodysplasia Punctata
Abnormal bronchus morphology, Optic nerve hypoplasia, Short distal phalanx of toe, Short distal p... ORPHA:79345
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Wide nose, Interrupted aortic arch, Depressed nasal ridge, M... ORPHA:1727
Heart And Brain Malformation Syndrome
High, narrow palate, Thick lower lip vermilion, Microphthalmia, Gastroesophageal reflux, Interrup... OMIM:616920
Ring Chromosome 10 Syndrome
Thin vermilion border, Microphthalmia, Aganglionic megacolon, Sandal gap, Micrognathia, Long phil... ORPHA:1438
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Short nose, Microphthalmia, Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac ... OMIM:300863
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Short 5th toe, Short first metatarsal, Increased overbite, Low hangi... OMIM:613684
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Short nose, Anteverted nares, Short long bone, Short ribs, Metaphyseal widening, Limb undergrowth... OMIM:618961
Feingold Syndrome
Orofacial cleft, Annular pancreas, Clinodactyly of the 5th finger, Esophageal atresia, Anteverted... ORPHA:1305
Holoprosencephaly
Microphthalmia, Solitary median maxillary central incisor, Anosmia, Tooth agenesis, Broad philtru... ORPHA:2162
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Short nose, Aganglionic megacolon, Tapered finger, Bulbous nose, Prominent nasal bridge, Patent d... OMIM:613870
3C Syndrome
Abnormal hip bone morphology, Pulmonic stenosis, Abnormal mitral valve morphology, Aortic valve s... ORPHA:7
Congenital Rubella Syndrome
Abnormal metaphysis morphology, Microphthalmia, Hepatomegaly, Jaundice, Anemia, Aplasia/Hypoplasi... ORPHA:290
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ... OMIM:617102
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Gingivitis, Tracheoesophageal fistula, ... ORPHA:379
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Abnormal palate morphology, Short nose, Gastroesophageal reflux, Narrow mouth, Camptodactyly of f... ORPHA:1495
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Hypoplastic... ORPHA:40366
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Proximal placement of thumb, Tracheomalacia, Tracheal stenosis, Anteverted nares, Car... OMIM:217980
Baraitser-Winter Syndrome 1
Long philtrum, Orofacial cleft, Retrognathia, Microphthalmia, Short nose, Anteverted nares, Aorti... OMIM:243310
17P13.3 Microduplication Syndrome
Short nose, Clinodactyly of the 5th finger, Wide nose, Narrow mouth, High palate, Congenital hip ... ORPHA:217385
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Seckel Syndrome 2
Microphthalmia, Clinodactyly of the 5th finger, Microdontia, Micrognathia, Microglossia, Prominen... OMIM:606744
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Intestinal malrotation, Syndactyly, Enamel agenesis, Long philtrum, Anteverted nares, Cleft palat... OMIM:614701
White Forelock With Malformations
White forelock, Atrial septal defect, Poliosis OMIM:277740
Mesoaxial Hexadactyly And Cardiac Malformation
Everted lower lip vermilion, Pulmonic stenosis, Hand polydactyly, Patent ductus arteriosus, Atria... OMIM:249670
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal ventriculoarterial connection, Hepatomegaly, Abnormal aortic ... ORPHA:860
Septo-Optic Dysplasia Spectrum
Esophageal atresia, Optic nerve hypoplasia, Anosmia, Tracheoesophageal fistula, Septo-optic dyspl... ORPHA:3157
Acrocallosal Syndrome
Everted upper lip vermilion, Pulmonary valve defects, Abnormal oral frenulum morphology, Bifid uv... OMIM:200990
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Retrognathia, Abnormal hip bone morphology... ORPHA:2631
Suleiman-El-Hattab Syndrome
Polydactyly, Thick lower lip vermilion, Single transverse palmar crease, Patent foramen ovale, Hi... OMIM:618950
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Genu varum, Coxa valga, Hypop... ORPHA:950
Craniosynostosis, Herrmann-Opitz Type
Short nose, Finger syndactyly, Split hand, Micromelia, Micrognathia, Cleft palate, Malar flatteni... ORPHA:2145
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Retinitis Pigmentosa 89
Intrahepatic bile duct dilatation, Esophageal varix, Postaxial polydactyly, Hepatosplenomegaly, M... OMIM:618955
Camptodactyly Syndrome, Guadalajara Type 1
Short nose, Cubitus valgus, Hallux valgus, Mandibular prognathia, Open bite, Narrow mouth, High p... ORPHA:1327
Femoral-Facial Syndrome
Orofacial cleft, Abnormal fibula morphology, Short nose, Preaxial foot polydactyly, Abnormal pelv... ORPHA:1988
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Pentasomy X
Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Micrognathia, Camptodactyly... ORPHA:11
Hereditary Mucoepithelial Dysplasia
Gingival overgrowth, Anorectal anomaly, Furrowed tongue, Tracheoesophageal fistula ORPHA:1839
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ... ORPHA:353277
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Thin vermilion border, Short nose, Anteverted nares, Bowing of the long bones, Short palm, Microg... ORPHA:171839
Vitamin K Antagonist Embryofetopathy
Short nose, Epiphyseal stippling, Anteverted nares, Choanal atresia, Aplasia/Hypoplasia affecting... ORPHA:1914
Char Syndrome
Clinodactyly of the 5th finger, Triangular mouth, Short philtrum, Ventricular septal defect, Ever... ORPHA:46627
Aase-Smith Syndrome
Abnormal hip bone morphology, Slender finger, Camptodactyly of finger, Cleft palate, Aplasia/Hypo... ORPHA:916
Meckel Syndrome, Type 5
Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Bile duct proliferation, Cl... OMIM:611561
Chromosome 13Q33-Q34 Deletion Syndrome
Microphthalmia, Pulmonic stenosis, Left ventricular hypertrophy, Overlapping toe, Advanced erupti... OMIM:619148
Teebi Hypertelorism Syndrome 1
Short nose, Aortic root aneurysm, Dental crowding, Anteverted nares, Micrognathia, Natal tooth, L... OMIM:145420
Fetal Alcohol Syndrome
Short nose, Microphthalmia, Non-midline cleft of the upper lip, Anteverted nares, Microdontia, Mi... ORPHA:1915
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Micrognathia, Cleft palate ORPHA:2016
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Short nose, Antever... ORPHA:2701
Fanconi Anemia, Complementation Group S
Narrow palate, Microphthalmia, Anemia, Proximal placement of thumb, Anteverted nares, Underdevelo... OMIM:617883
Phaver Syndrome
Triphalangeal thumb, Hypoplastic aortic arch, Pulmonary artery atresia, Broad thumb, Camptodactyl... ORPHA:2876
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Dysphagia, Lymphadenopathy, Tracheoesophageal fistula ORPHA:142
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Short nose, Microphthalmia, Downturned corners of mouth, Abnormal heart morphology, Cleft palate,... OMIM:618571
Chromosome 6Q11-Q14 Deletion Syndrome
Short nose, Single transverse palmar crease, High palate, Micrognathia, Broad nasal tip, Prominen... OMIM:613544
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypoplastic nasal tip, Clubbing of fingers, Single transverse palmar crease, 2-3 toe syndactyly, ... ORPHA:3304
Pfeiffer Syndrome Type 2
Short nose, Deviation of the thumb, Short hallux, Tracheomalacia, Finger syndactyly, High palate,... ORPHA:93259
2Q32Q33 Microdeletion Syndrome
Convex nasal ridge, Thin vermilion border, Clinodactyly of the 5th finger, Dental crowding, Oligo... ORPHA:251019
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Long p... OMIM:608670
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Abnormal lower lip morphology, Abnormal aortic morphology, Tooth ag... ORPHA:1166
Peho-Like Syndrome
Retrognathia, Short nose, Tapered finger, Open mouth OMIM:617507
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Intestinal hypoplasia, Pancreatic hypoplasia, Tr... OMIM:601346
Hydrolethalus Syndrome 2
Postaxial hand polydactyly, Micrognathia, Cleft palate, Preaxial foot polydactyly, Postaxial foot... OMIM:614120
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Clubbin... ORPHA:244
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:604765
Stickler Syndrome Type 1
Short nose, Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology, Hypoplasia of... ORPHA:90653
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... ORPHA:1352
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Broad distal phalanx of finger, Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Intest... ORPHA:353281
Stormorken Syndrome
Anemia, Short philtrum, Howell-Jolly bodies, Asplenia, Stroke-like episode, Hypoplastic spleen, T... OMIM:185070
Mitochondrial Myopathy And Sideroblastic Anemia
Short nose, Anemia, High palate, Micrognathia, Long philtrum ORPHA:2598
Macrocephaly-Intellectual Disability-Autism Syndrome
Lymphoid nodular hyperplasia, Short nose, Intestinal polyposis, Foot polydactyly, Preaxial hand p... ORPHA:210548
Adenylosuccinate Lyase Deficiency
Short nose, Anteverted nares, Smooth philtrum, Long philtrum, Thin upper lip vermilion ORPHA:46
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Perimembranous ventricular septal defect, Gastroesophageal reflux, Short 2nd finger, Sandal gap, ... OMIM:600987
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Promin... ORPHA:364577
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Prominent nose, Micrognathia, Microphthalmia, Talipes equinovarus OMIM:616171
Burn-Mckeown Syndrome
Thin vermilion border, Bilateral choanal atresia, Bilateral choanal atresia/stenosis, Short philt... OMIM:608572
Warburg Micro Syndrome 1
Thin vermilion border, Microphthalmia, Anteverted nares, Narrow mouth, Micrognathia, Overlapping ... OMIM:600118
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Anteverted nares, Enlarged epiphyses, Epiphyseal dysplasia, Pierre-Robin sequence, Cleft palate, ... OMIM:184840
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Autosomal Dominant Omodysplasia
Short nose, Rhizomelia, Short palm, Micrognathia, Short humerus, Malar flattening, Long philtrum,... ORPHA:93328
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Renal Agenesis, Bilateral
Sirenomelia, Non-midline cleft of the upper lip, Abnormal intestine morphology, Tracheoesophageal... ORPHA:1848
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Atrioventricular canal def... ORPHA:1120
Mirage Syndrome
Rocker bottom foot, Anemia, Patent ductus arteriosus, Gastroesophageal reflux, Radial club hand, ... OMIM:617053
Townes-Brocks Syndrome 1
Clinodactyly of the 5th toe, Tracheoesophageal fistula, Broad thumb, Aplasia/Hypoplasia of the 3r... OMIM:107480
1Q21.1 Microdeletion Syndrome
Microphthalmia, Clinodactyly of the 5th finger, Interrupted aortic arch, High palate, Ankylogloss... ORPHA:250989
Tetrasomy 15Q26
Hypoplastic aortic arch, High palate, Camptodactyly, Arachnodactyly, Microretrognathia, Patent du... OMIM:614846
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Short nose, Dental crowding, Patent foramen ovale, High palate, Narrow mouth, Camptodactyly, Bila... OMIM:615539
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Microphthalmia, Delayed eruption of teeth, Periodont... ORPHA:2791
Monosomy 18Q
Pulmonary valve defects, Aortic valve stenosis, Arachnodactyly, Abnormal palmar dermatoglyphics, ... ORPHA:1600
Nance-Horan Syndrome
Supernumerary tooth, Microphthalmia, Mandibular prognathia, Short metacarpal, Abnormality of the ... ORPHA:627
Subaortic Stenosis-Short Stature Syndrome
Bilateral single transverse palmar creases, Microphthalmia, Anteverted nares, Membranous subvalvu... ORPHA:3191
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Mesomelia, Syndactyly, Long philtrum, Hypoplastic right heart, Clinodactyly, Triangu... OMIM:616894
Sirenomelia
Sirenomelia, Tracheoesophageal fistula, Anal atresia, Absence of the sacrum, Aplasia/Hypoplasia o... ORPHA:3169
Lowry-Maclean Syndrome
Retrognathia, High, narrow palate, Atrioventricular canal defect, Short nose, Midgut malrotation,... ORPHA:2409
Gillespie Syndrome
Truncus arteriosus, Aniridia, Hypoplasia of the iris OMIM:206700
Codas Syndrome
Short nose, Midline defect of the nose, Delayed eruption of teeth, Abnormal dental enamel morphol... ORPHA:1458
Fibrochondrogenesis 2
Short nose, Metaphyseal cupping, Hypoplastic pubic bone, Anteverted nares, Short long bone, Short... OMIM:614524
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Premature graying of hair, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Short nose, Anteverted nares, Micrognathia, Ulnar deviation of the wrist, Broad philtrum, Long ph... OMIM:618577
Carpenter Syndrome 2
Retrognathia, Broad thumb, Narrow naris, Long philtrum, Narrow palate, Transposition of the great... OMIM:614976
Oculodentodigital Dysplasia
Microphthalmia, Joint contracture of the 5th finger, Broad alveolar ridges, Microdontia, Clinodac... OMIM:164200
Dyskeratosis Congenita
Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Anorectal anomaly, Periodontitis, Palm... ORPHA:1775
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Anteverted nar... ORPHA:93329
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Microphthalmia, Syndactyly, Brachydactyly OMIM:610023
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Micrognathia, Cleft palate, Abnormal morphology of ulna, A... ORPHA:971
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, High, narrow palate, Bilateral microphthalmos, Optic nerve hypoplasia, Choanal atr... OMIM:607597
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Microphthalmia, Long nose, Dental ... OMIM:257850
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Facial Paresis, Hereditary Congenital, 3
Short nose, Short philtrum, Anteverted nares, High palate, Downturned corners of mouth, Micrognat... OMIM:614744
Hamamy Syndrome
Everted lower lip vermilion, Wide mouth, Syndactyly, Long philtrum, Long toe, Anteverted nares, H... OMIM:611174
Arthrogryposis, Distal, Type 2B1
Rocker bottom foot, Mandibular prognathia, Absent phalangeal crease, Narrow mouth, High palate, U... OMIM:601680
Heterotaxy, Visceral, 1, X-Linked
Biliary atresia, Posteriorly placed anus, Short long bone, Pulmonic stenosis, Absence of the sacr... OMIM:306955
Pfeiffer Syndrome Type 1
Short nose, Short hallux, Aplasia/Hypoplasia of the thumb, Finger syndactyly, High palate, Broad ... ORPHA:93258
Foxp1 Syndrome
Retrognathia, Short nose, Single transverse palmar crease, Mandibular prognathia, Prominent finge... ORPHA:391372
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cleft upper lip, Microphthalmia, Cleft palate OMIM:120433
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia, Sandal gap, Conical tooth, Oligodontia, Thick nasal alae, Microdontia, Persistenc... OMIM:618727
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short nose, Vascular dilatation, Wide distal femoral metaphysis, Wide nose, Squared iliac bones, ... OMIM:613320
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose, Accessory oral frenulum, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar... ORPHA:79113
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Clinodactyly of the 5th finger, Camptodactyly, Asplenia, Pulmonic ... OMIM:619123
Even-Plus Syndrome
Short nose, Patent foramen ovale, Bifid nasal tip, High palate, Anal atresia, Depressed nasal rid... OMIM:616854
Meckel Syndrome, Type 2
Polydactyly, Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, Bile duct prol... OMIM:603194
Tetraploidy
Radial club hand, Short philtrum, Aplasia/Hypoplasia affecting the eye, Micrognathia, Cleft palat... ORPHA:3305
Zechi-Ceide Syndrome
Thin vermilion border, Short metatarsal, Short philtrum, Sandal gap, Wide nose, Oligodontia, Mand... ORPHA:217017
Cerebrooculofacioskeletal Syndrome 4
Rocker bottom foot, Bilateral microphthalmos, Flexion contracture of toe, Short philtrum, Flared ... OMIM:610758
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Retrognathia, Short nose, Broad nasal tip, Malar flattening, Open mouth OMIM:613670
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r... OMIM:609945
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Long philtrum, Genu valgum, Clinodactyly of the 5th finger, Gastroesophageal reflux, Low hanging ... OMIM:619721
Heart Defects, Congenital, And Other Congenital Anomalies
Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left... OMIM:600001
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Absent nares, Single naris, Tooth malposition, Anophthalmia, Hyposmia, Anosmia, F... ORPHA:2250
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly ORPHA:64754
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Long philtrum, Cone-shaped epiphysis, Short philtrum, Bilater... ORPHA:439822
Martsolf Syndrome 1
Microphthalmia, Slender ulna, Cardiomyopathy, Short metacarpal, Broad femoral neck, Long philtrum... OMIM:212720
Hypertelorism, Microtia, Facial Clefting Syndrome
Tessier cleft, 2-3 toe syndactyly, Narrow mouth, Cleft upper lip, Micrognathia, Abnormal heart mo... OMIM:239800
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Short nose, Clinodactyly of the 5th finger, Short philtrum, Single transverse palmar crease, 2-3 ... OMIM:613443
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Retrognathia, Microphthalmia, Sandal gap, Joint contracture of the 5th finger, Patent foramen ova... OMIM:618914
3Q29 Microduplication Syndrome