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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
decreased prepulse inhibition Qsox1em1(IMPC)Kmpc HOM Late adult 8.16×10-06
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 7.62×10-07
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
abnormal coat/hair pigmentation Qsox1em1(IMPC)Kmpc HOM Late adult 1.64×10-05
abnormal skin coloration Qsox1em1(IMPC)Kmpc HOM Late adult 4.36×10-05
increased heart weight Qsox1em1(IMPC)Kmpc HOM Late adult 6.20×10-05

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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 Forepaw

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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X-ray

XRay Images Hind Leg and Hip

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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

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Eye Morphology

Images Slit Lamp

1 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
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Intestinal malrotation, Broad nasal tip, Micrognathia, H... OMIM:615524
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Brachydactyly, Thin upper lip vermilion, Truncus arterios... ORPHA:401935
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Syndactyly Type 2
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... ORPHA:93403
Gombo Syndrome
Abnormal heart morphology, Radial deviation of finger, Microphthalmia, Clinodactyly, Brachydactyly OMIM:233270
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac sept... ORPHA:294975
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect,... ORPHA:261272
Orofaciodigital Syndrome Xviii
Brachydactyly, Sandal gap, Single transverse palmar crease, Prominent nasal bridge, Postaxial pol... OMIM:617927
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Microphthalmia With Limb Anomalies
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia... OMIM:206920
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Cleft pa... ORPHA:2516
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Malar flattening, Truncus arte... OMIM:611867
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
17Q21.31 Microduplication Syndrome
Toe syndactyly, Anteverted nares, Sandal gap, Abnormality of the dentition, Micrognathia, High pa... ORPHA:217340
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Ventricular septal defect, Orofacial cleft, Split foot, ... ORPHA:3434
Verheij Syndrome
Thin upper lip vermilion, Anteverted nares, Optic nerve hypoplasia, Truncus arteriosus, Broad nas... OMIM:615583
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Pericardial effusion, Depressed nasal ridge, Cleft palate, Polydac... OMIM:613885
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Ventricular septal defect, Depressed nasal bridge, Exaggerated cupid's bow, Micro... ORPHA:261120
Genitopalatocardiac Syndrome
Ventricular septal defect, Cleft upper lip, Micrognathia, Cleft palate, Right aortic arch, Transp... OMIM:231060
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Foot ... OMIM:616589
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Anteverted nares, Aganglionic megaco... ORPHA:59315
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Underdeveloped nasal alae, Cleft palate, Truncus arteriosus, Short dis... OMIM:601355
Microgastria-Limb Reduction Defect Syndrome
Anophthalmia, Abnormality of the spleen, Abnormal finger morphology, Gastroesophageal reflux, Atr... ORPHA:2538
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Depressed nasal bridge, Postaxial polydactyly, Hypoplastic right heart, Ventricu... OMIM:618142
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Small hand, Short foot, Short 5th finger, High palate, Cubitus valgus, Clinodactyly,... OMIM:300577
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... OMIM:311895
Polydactyly, Preaxial Iv
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... OMIM:174700
Feingold Syndrome 1
Micrognathia, Asplenia, High palate, Accessory spleen, Anteverted nares, Short thumb, Short toe, ... OMIM:164280
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Frontonasal Dysplasia 1
Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxilla, Postaxial hand pol... OMIM:136760
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Tracheoesophageal fistula, Orofacial cleft, Coarctation ... ORPHA:268249
Methimazole Embryofetopathy
Ventricular septal defect, Choanal atresia, Esophageal atresia, Tracheoesophageal fistula, Coarct... ORPHA:1923
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Camptodactyly of finger, Ventr... ORPHA:2008
Orofaciodigital Syndrome Type 10
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... ORPHA:2756
Hydrolethalus
Tracheal atresia, Anophthalmia, Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous c... ORPHA:2189
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Anencephaly 2
Anophthalmia, Median cleft lip, Cleft maxillary alveolar ridge, Bifid nose, Median cleft palate OMIM:619452
Temtamy Syndrome
Micrognathia, Short toe, Thick lower lip vermilion, Genu varum, Aortic aneurysm, Clinodactyly of ... ORPHA:1777
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Wide nose, Rocker bottom foot, Wide nasal bridge, Dysphagia, Atrial septal def... ORPHA:89844
Skraban-Deardorff Syndrome
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Absent cupid's... OMIM:617616
Adams-Oliver Syndrome 4
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... OMIM:615297
Congenital Contractural Arachnodactyly
Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Tracheoesophageal fistula, Mitra... ORPHA:115
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia OMIM:172880
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Abnormal mitral valve morp... ORPHA:1277
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar... ORPHA:228190
Polydactyly, Preaxial I
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... OMIM:174400
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Esophageal atresia, Trac... OMIM:314390
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Thin upper lip vermilion, Anteverted nares, Micrognathia, Cleft palate, Short nose ORPHA:2015
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ... ORPHA:2712
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Cerebrooculofacioskeletal Syndrome 3
Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Microphthalmia OMIM:616570
Double Outlet Right Ventricle
Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard p... ORPHA:3426
Syndactyly, Type Iv
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... OMIM:186200
Microphthalmia, Syndromic 9
Anophthalmia, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Bilateral microp... OMIM:601186
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... OMIM:604381
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Vascular ring, Atrial s... OMIM:603387
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Optic disc hypoplasia, Aplastic anemia, Absent thumb, Esophageal atres... OMIM:300514
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Bulbous nose, Wide nasal bridge, Cleft... OMIM:612913
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Esophageal atresia, Trac... OMIM:619859
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Proximal placement of thumb, Prominent nose, Micrognathia, High, narrow pa... ORPHA:435638
Pierre Robin Syndrome
Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis OMIM:261800
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Anophthalmia, Ventricular septal defect, Esophageal atresia, Patent ductus arte... ORPHA:77298
Jawad Syndrome
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, Prominent no... OMIM:251255
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Delpire-Mcneill Syndrome
Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Dysphagia OMIM:619083
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Abnormally large globe, Micrognathia, Hypoplasia of the maxilla, Widely... ORPHA:363417
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft OMIM:611638
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Br... OMIM:601927
Braddock-Carey Syndrome 2
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly, Retr... OMIM:619981
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... ORPHA:210122
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Acces Syndrome
Hip dislocation, Tracheoesophageal fistula, Hip dysplasia, Split foot, Ectrodactyly, Clinodactyly... OMIM:619959
Czeizel-Losonci Syndrome
Hitchhiker thumb, Single transverse palmar crease, Dextrocardia, Micrognathia, 2-3 finger syndact... ORPHA:2437
You-Hoover-Fong Syndrome
Accessory oral frenulum, Cleft palate, Vascular ring, Coarctation of aorta, Clinodactyly, Double ... OMIM:616954
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac... OMIM:217085
Velocardiofacial Syndrome
Ventricular septal defect, Abnormality of the hand, Underdeveloped nasal alae, Bulbous nose, Velo... OMIM:192430
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Symphalangism affecting the phal... ORPHA:2547
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Abnormal nostril morphology, Narrow... ORPHA:3469
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Abnormal car... ORPHA:93941
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Absent thumb, Prominent nose, Short thumb, Patent ductus arteriosus, M... OMIM:617516
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Anophthalmia Plus Syndrome
Anophthalmia, Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bi... ORPHA:1104
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Accessory oral frenulum, Conical tooth, Complete atrioventricular canal de... OMIM:619142
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi... ORPHA:1278
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Arachnodac... ORPHA:261330
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Cleft ala nasi, Anophthalmia, Cleft palate, Microphthalmia OMIM:164180
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... ORPHA:958
Biemond Syndrome Type 2
Microphthalmia, Preaxial polydactyly ORPHA:141333
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal cardiac septum morp... ORPHA:2370
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, High, nar... ORPHA:2879
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Microphthalmia With Limb Anomalies
Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2n... ORPHA:1106
Trisomy 1Q
Microretrognathia, Wide nose, Toe syndactyly, Arachnodactyly, Depressed nasal bridge, Camptodacty... ORPHA:261344
Bardet-Biedl Syndrome 7
Depressed nasal bridge, Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Mal... OMIM:615984
Orofaciodigital Syndrome Xvii
Median cleft lip, Prominent nose, Short middle phalanx of the 2nd finger, High, narrow palate, Pa... OMIM:617926
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, High palate, Everted lower lip vermilion, Short nose, Aplas... ORPHA:1695
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... OMIM:249710
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Micrognathia, Preaxial polydactyly, Absent nasal bridge, Narrow greater sciatic notch, Short tibi... OMIM:617925
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Cerebrooculonasal Syndrome
Anophthalmia, Postaxial hand polydactyly, High palate, Widely spaced teeth, Solitary median maxil... ORPHA:66625
Emanuel Syndrome
Broad jaw, Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Dental crow... OMIM:609029
Trisomy 13
Anophthalmia, Ventricular septal defect, Median cleft lip, Abnormality of the dentition, High, na... ORPHA:3378
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Broad nasal tip, Preaxial hand polydactyly, Orofacial cleft, Large hands ORPHA:85287
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia... OMIM:616300
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... OMIM:618167
Syndactyly-Polydactyly-Earlobe Syndrome
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... OMIM:186350
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermilion, Small ... ORPHA:969
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... ORPHA:3104
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Depressed nasal bridge, Micrognathia, Abnormality of the humerus, Prea... ORPHA:3098
Stromme Syndrome
Accessory spleen, Jejunal atresia, Prominent nasal bridge, Optic nerve hypoplasia, Intestinal mal... OMIM:243605
Schisis Association
Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal atresia ORPHA:63862
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Cerebral hemorrhage, Abnormal hand morphology, Moyamoya phenomenon, Dilated cardiomyop... OMIM:300845
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Absent thumb, Absent radius, Esophageal atresia, Micrognathia, Wide nasal bri... OMIM:614083
2Q24 Microdeletion Syndrome
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... ORPHA:1617
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Leukopenia, Abnormality of the liver, High palate, Triph... ORPHA:84
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Depressed nasal bridge, An... ORPHA:404440
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Atri... OMIM:265380
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Melanin pigment... OMIM:607624
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Hypoplasia of the thymus, Abn... ORPHA:861
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Micr... ORPHA:1388
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio... OMIM:607323
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbo... OMIM:614078
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... OMIM:601349
Gracile Bone Dysplasia
Asplenia, Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Hypoplastic spleen, Ank... OMIM:602361
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, Polydactyly, High p... OMIM:300484
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short palm, Clinodactyly of the 5th f... ORPHA:508498
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Rubinstein-Taybi Syndrome 1
Dental crowding, Single transverse palmar crease, Prominent nose, Micrognathia, High, narrow pala... OMIM:180849
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, ... ORPHA:96170
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis ... ORPHA:90652
Lethal Osteosclerotic Bone Dysplasia
Anteverted nares, Micrognathia, Depressed nasal ridge, Gingival fibromatosis, Gingival overgrowth... ORPHA:1832
Axial Mesodermal Dysplasia Spectrum
Micrognathia, Missing ribs, Abnormality of the spleen, Anorectal anomaly, Tracheoesophageal fistu... ORPHA:1834
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Microphthalmia, Broad ... OMIM:614526
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Anteverted nares, Prominent nasal bridge, Abnormal spaced incisors, Broad nasal tip... ORPHA:411986
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Prominent nasal bridge, Hamartoma of tongue, Broad nasal tip, ... ORPHA:2754
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... OMIM:612961
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Depressed nasal bridge, Ventricular septal defect, Esophageal atresia, Pulm... OMIM:301030
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Mic... ORPHA:93267
Congenital Tracheomalacia
Ventricular septal defect, Bronchomalacia, Tracheomalacia, Cardiomegaly, Anomalous tracheal carti... ORPHA:95430
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Pierpont Syndrome
Wide nose, Broad nasal tip, Long upper lip, Short toe, Broad palm, Short foot, Broad philtrum, De... OMIM:602342
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening OMIM:183700
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Prominent nasal bridge, Tracheoesophageal fistula, Abnormal hip bone m... ORPHA:3068
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Overriding aorta, Prominent nasal bridge, Carious teeth, Abnormal aortic a... ORPHA:1110
Arthrogryposis, Distal, Type 1C
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... OMIM:619110
Vacterl/Vater Association
Finger syndactyly, Preaxial hand polydactyly, Non-midline cleft lip, Abnormality of the pancreas,... ORPHA:887
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Opitz Gbbb Syndrome
Micrognathia, High palate, Atrial septal defect, Patent foramen ovale, Anteverted nares, Cleft li... ORPHA:2745
Ring Chromosome 8 Syndrome
Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology ORPHA:1450
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Atrial septal defect, Promi... OMIM:618494
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Gastroesophageal reflux, Humerorad... OMIM:134780
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thin upper lip vermilion, Interphalangeal joint contracture of finger, Preaxial hand polydactyly,... OMIM:606242
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect, Anteverted nares, Rocker bottom foot, Exaggerated cupid's bow, Wide mo... OMIM:618506
Fibular Hemimelia
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... ORPHA:93323
Esophageal Atresia
Barrett esophagus, Ventricular septal defect, Choanal atresia, Intestinal malrotation, Cleft lip,... ORPHA:1199
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Mesenteric cyst, Parachute mitral valve, Prominent nose, Short philtrum, Gastroesophageal reflux,... OMIM:618316
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Thin upper lip vermilion, Hepatomegaly, Pancytopenia, Stomatitis, Dextrocardia, Megaloblastic ane... OMIM:277380
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Prominent nose, Mi... OMIM:612474
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Choanal atresia, Esophageal atresia, Muscular ventricular septal defect, Submucous cle... OMIM:619227
Fanconi Anemia, Complementation Group D2
Pancytopenia, Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplic... OMIM:227646
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Non-Distal Duplication 13Q
Arachnodactyly, Abnormality of the dentition, Micrognathia, Postaxial hand polydactyly, Thin verm... ORPHA:1702
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation of finger, Downtur... ORPHA:1895
Facial Clefting, Oblique, 1
Microphthalmia, Deep palmar crease, Cleft palate, Cleft upper lip OMIM:600251
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Median cleft palate, Hepatomegaly ORPHA:2432
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate OMIM:600776
Fryns Syndrome
Tented upper lip vermilion, Micrognathia, Abnormal aortic arch morphology, High palate, Gastroeso... ORPHA:2059
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p... OMIM:617866
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Cholest... OMIM:615415
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Cleft uppe... OMIM:612561
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Abnormal palate morphology, Abnormal cardiac septum mo... ORPHA:1200
Chromosome 3Pter-P25 Deletion Syndrome
Micrognathia, Downturned corners of mouth, High palate, Gastroesophageal reflux, Atrioventricular... OMIM:613792
Microphthalmia, Isolated 4
Microphthalmia, Postaxial polydactyly OMIM:613094
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of the ulna, Hamartoma of ... OMIM:613091
Clark-Baraitser Syndrome
Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Sandal gap, ... OMIM:617752
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Broad hallux, Sandal gap, Broad nasal tip, Bicuspid aortic valve, Cleft soft pa... OMIM:618529
Thakker-Donnai Syndrome
Ventricular septal defect, Anteverted nares, Bulbous nose, Tracheoesophageal fistula, Downturned ... ORPHA:1780
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Cleft upper li... OMIM:147250
Charlie M Syndrome
Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Wide nasal brid... ORPHA:1406
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... OMIM:155050
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Depressed nasal bridge, Camp... ORPHA:1529
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Polydactyly, Microphthalmia, Leuke... OMIM:602501
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Depressed nasal bridge, Ventricular septal defect, Postaxial polydactyly, Pancreatic ... OMIM:615503
Moebius Syndrome
Syndactyly, Abnormal nasopharynx morphology, Brachydactyly, Depressed nasal bridge, Abnormality o... OMIM:157900
Odontochondrodysplasia
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa val... ORPHA:166272
Acromelic Frontonasal Dysostosis
Syndactyly, Dilation of Virchow-Robin spaces, Optic nerve hypoplasia, Broad nasal tip, Bifid nasa... OMIM:603671
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th... ORPHA:163966
Hamel Cerebro-Palato-Cardiac Syndrome
Arachnodactyly, Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Narrow mouth, Atrial... ORPHA:93946
Vacterl With Hydrocephalus
Absence of the sacrum, Anophthalmia, Micrognathia, Esophageal atresia, Hypoplasia of the radius, ... ORPHA:3412
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Thin upper lip vermilion, Broad hallux, Overlapping toe, Sandal gap, Broad nasal tip, Prominent n... OMIM:617755
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Long philtrum, Atrial septal defect, Microphthalmia, Short n... OMIM:300887
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Depressed nasal bridge, Broad na... OMIM:619736
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Micrognathia, Bulbou... OMIM:613604
Cerebrooculonasal Syndrome
U-Shaped upper lip vermilion, Anophthalmia, Anteverted nares, Prominent nasal bridge, Proboscis, ... OMIM:605627
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Anteverted nares, Micrognathia, Narrow mouth, Open mouth, Delayed eruption of permanent teeth, Sh... OMIM:619356
Mosaic Trisomy 14
Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Wide nasal bridg... ORPHA:1703
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Mosaic Trisomy 1
Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Pulmonary artery atresia, ... ORPHA:1692
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Retrognathia, High palate, Narrow mouth ORPHA:2528
Charge Syndrome
Anophthalmia, Abnormal palmar dermatoglyphics, Micrognathia, Secundum atrial septal defect, Hand ... OMIM:214800
Trisomy 12P
Micrognathia, Wide nasal bridge, Cleft palate, Aplasia/Hypoplasia of the iris, Downturned corners... ORPHA:1699
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de... OMIM:235750
Pallister-Hall-Like Syndrome
Toe syndactyly, Depressed nasal bridge, Median cleft lip, Micromelia, Micrognathia, Postaxial han... OMIM:241800
Structural Heart Defects And Renal Anomalies Syndrome
Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aort... OMIM:617478
Pierpont Syndrome
Thin upper lip vermilion, Wide nasal ridge, Short toe, Broad philtrum, Deep palmar crease, Thin v... ORPHA:487825
Congenital Tracheal Stenosis
Ventricular septal defect, Abnormal bronchus morphology, Abnormal stomach morphology, Ascending a... ORPHA:141127
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Depressed nasal bridge, Anteverted nares, Coxa valga, Micrognathia, Abnormality of the elbow, Fla... ORPHA:163649
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Fetal Trimethadione Syndrome
Depressed nasal bridge, Ventricular septal defect, Micrognathia, High palate, Transposition of th... ORPHA:1913
Distal Duplication 18Q
Anteverted nares, Prominent nasal bridge, Choanal atresia, Arachnodactyly, Camptodactyly of finge... ORPHA:1716
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... OMIM:617201
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Single transverse palmar crease, Micromelia, Cleft maxillary alveolar... ORPHA:508488
Infantile Myofibromatosis
Neoplasm of the pancreas, Intestinal obstruction, Gingival fibromatosis, Tracheoesophageal fistul... ORPHA:2591
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Micrognathia, Bifid nasal tip... OMIM:619343
Stevenson-Carey Syndrome
Atrial septal defect, Anteverted nares, Underdeveloped nasal alae, Narrow mouth, Pierre-Robin seq... OMIM:611961
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, T... OMIM:612651
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Dextrocardia, Mi... ORPHA:2863
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sandal gap, Depressed nasal bridge, Anteverted nares, Postaxial polydac... OMIM:615761
Sweeney-Cox Syndrome
Micrognathia, Asplenia, High palate, Short philtrum, Gastroesophageal reflux, 2-5 toe syndactyly,... OMIM:617746
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... OMIM:311300
Oculomaxillofacial Dysostosis
Median cleft lip, Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the humerus,... ORPHA:1794
Bardet-Biedl Syndrome 19
Atrial septal defect, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyl... OMIM:615996
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication OMIM:223200
Microphthalmia, Syndromic 2
Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Atrial septal defect, Contr... OMIM:300166
Seckel Syndrome 2
Microdontia, Prominent nose, Micrognathia, Clinodactyly of the 5th finger, Microphthalmia, Microg... OMIM:606744
Cofs Syndrome
Camptodactyly of finger, Micrognathia, Abnormal nasal morphology, Wide nasal bridge, Everted lowe... ORPHA:1466
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, High pa... ORPHA:139471
Sandestig-Stefanova Syndrome
Rocker bottom foot, Muscular ventricular septal defect, Wide nasal bridge, Orofacial cleft, Perim... OMIM:618804
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
C Syndrome
Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Hepatomegaly, Short ... OMIM:211750
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advance... OMIM:215045
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri... ORPHA:2831
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Atrial septal defect, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe s... ORPHA:485405
Acrocephalopolydactyly
Depressed nasal ridge, Hepatosplenomegaly, Short long bone, Limb undergrowth, Short nose, Brachyd... ORPHA:221054
Holzgreve Syndrome
Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip OMIM:236110
22Q11.2 Deletion Syndrome
Micrognathia, Anorectal anomaly, Abnormal aortic arch morphology, Short philtrum, Hypoplasia of t... ORPHA:567
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Micrognathia... OMIM:258860
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology ORPHA:1389
Hypoglossia With Situs Inversus
Micrognathia, Situs inversus totalis, Asplenia, High palate, Hypodontia, Polysplenia, Narrow mout... OMIM:612776
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... OMIM:201000
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ... OMIM:277170
Trisomy 4P
Depressed nasal bridge, Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Pre... ORPHA:1738
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... OMIM:165590
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Ventricular septal defect, Depressed nasal bridge, Micrognathia ORPHA:1918
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... OMIM:251450
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose ORPHA:1355
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Underdevel... ORPHA:2378
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... ORPHA:94066
Charge Syndrome
Anophthalmia, Abnormal tibia morphology, Gastroesophageal reflux, Clinodactyly of the 5th finger,... ORPHA:138
Temtamy Syndrome
Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Aortic aneurysm, Short 2nd t... OMIM:218340
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Sinusitis, Abnormality of neutrophils, Malabsorption, Pyloric stenos... ORPHA:379
Chung-Jansen Syndrome
Anteverted nares, Tapered finger, Micrognathia, Hip dysplasia, Thin vermilion border, High palate... OMIM:617991
Hartsfield Syndrome
Depressed nasal bridge, Non-midline cleft lip, Split hand, Cleft palate, Aplasia/Hypoplasia of th... ORPHA:2117
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Anteverted nares, Down-sloping shoulders, Microdontia, Micrognathia, Widely spaced tee... OMIM:619694
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Abnormality of the dentition OMIM:251700
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Ventricular septal defect, Abnormality... ORPHA:369891
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... ORPHA:380
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... OMIM:239300
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p... OMIM:617061
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Meckel Syndrome
Accessory spleen, Bowing of the long bones, Anophthalmia, Pancreatic fibrosis, Aplasia/Hypoplasia... ORPHA:564
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Patent ductus arterios... ORPHA:65759
Joubert Syndrome 18
Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Cleft... OMIM:614815
Kapur-Toriello Syndrome
Atrial septal defect, Ventricular septal defect, Single transverse palmar crease, Camptodactyly o... OMIM:244300
Perlman Syndrome
Hepatomegaly, Anteverted nares, Micrognathia, High, narrow palate, Open mouth, Abnormal pancreas ... ORPHA:2849
Heart And Brain Malformation Syndrome
Depressed nasal bridge, Camptodactyly of finger, Anteverted nares, Ventricular septal defect, Hig... OMIM:616920
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Thin upper lip vermilion, Anteverted nares, Sandal gap, Dental crowding, Short ... OMIM:617877
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Tapered finger, Microg... ORPHA:251071
Pelger-Huet Anomaly
Depressed nasal bridge, Ventricular septal defect, Abnormality of neutrophils, Abnormality of the... OMIM:169400
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Depressed nasal bridge, Sandal gap, Proximal placement of thumb, Short ... ORPHA:90650
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Feingold Syndrome
Hallux valgus, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Esophageal... ORPHA:1305
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... OMIM:601224
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,... ORPHA:2751
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Proximal placement of thumb, Ventricular septal defect, Microg... OMIM:610536
Congenital Heart Defects And Skeletal Malformations Syndrome
Smooth philtrum, Atrial septal defect, Arachnodactyly, Sandal gap, Ventricular septal defect, Den... OMIM:617602
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Bilateral single transverse palmar creases, Ventricular septal defect, Dextrocard... OMIM:619657
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of... ORPHA:1135
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Chronic rhinitis OMIM:617577
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Intestinal malrotation, Prominent nose, Carious teeth, Micrognathia, Ta... OMIM:613684
3C Syndrome
Micrognathia, High, narrow palate, Orofacial cleft, Abnormal tricuspid valve morphology, Gastroes... ORPHA:7
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip and palate, A... ORPHA:2001
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Non-midline cleft lip, Orofacial clef... ORPHA:2549
Ring Chromosome 10 Syndrome
Sandal gap, Aganglionic megacolon, Tapered finger, Micrognathia, Wide nasal bridge, Thin vermilio... ORPHA:1438
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Splenomegaly, Jaundice, Patent ductus ... ORPHA:290
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen... OMIM:618961
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Na... OMIM:277720
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Micrognathia, Gastroesophageal reflux, Narrow mouth, Short nose, Abnorma... ORPHA:1495
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Single transverse palmar crease, Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th fing... OMIM:614701
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ... OMIM:300863
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Tapered finger, Bulbous... OMIM:613870
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Patent foramen ovale, Patent duc... OMIM:618652
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Holoprosencephaly
Anophthalmia, Abnormality of the spleen, Deep philtrum, Depressed nasal ridge, Absent nares, Gast... ORPHA:2162
17P13.3 Microduplication Syndrome
Wide nose, Congenital hip dislocation, High palate, Narrow mouth, Clinodactyly of the 5th finger,... ORPHA:217385
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Optic nerve hypoplasia, Esophageal atresia, Anosmia, Tracheoesophageal fis... ORPHA:3157
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Vater/Vacterl Association
Syndactyly, Abnormal nasopharynx morphology, Ventricular septal defect, Choanal atresia, Absent r... OMIM:192350
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventric... OMIM:264480
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A... OMIM:619148
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
22Q11.2 Duplication Syndrome
Wide nose, Ventricular septal defect, Micrognathia, Depressed nasal ridge, Cleft palate, Hypoplas... ORPHA:1727
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Micrognathia, Split hand, Cleft palate, Malar flattening, Short no... ORPHA:2145
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... ORPHA:2631
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Everted lower lip vermilio... OMIM:249670
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Micrognathia, ... OMIM:217980
White Forelock With Malformations
Atrial septal defect, White forelock, Poliosis OMIM:277740
Hereditary Mucoepithelial Dysplasia
Anorectal anomaly, Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue ORPHA:1839
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Suleiman-El-Hattab Syndrome
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Single transverse palmar ... OMIM:618950
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Anteverted nares, Bicuspid aortic valve, Cleft upper lip, Duplication o... OMIM:243310
Pentasomy X
Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Small hand, Wide nasal bridge, S... ORPHA:11
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia,... ORPHA:171839
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Orofa... ORPHA:1988
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Meckel Syndrome, Type 5
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo... OMIM:611561
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Overlapping toe, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridge, Cl... OMIM:618571
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Brachytelephalangic Chondrodysplasia Punctata
Optic disc hypoplasia, Hypoplasia of the maxilla, Depressed nasal ridge, Tracheal calcification, ... ORPHA:79345
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, Atria... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Gastroesophageal reflux, Atria... ORPHA:353277
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Epiphyseal stippling, M... ORPHA:1914
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Depressed nasal bridge, A... ORPHA:1327
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Depressed nasal bridge, Ant... OMIM:616331
Fanconi Anemia, Complementation Group S
Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Underdeveloped nasal alae,... OMIM:617883
Fetal Alcohol Syndrome
Thin upper lip vermilion, Anteverted nares, Microdontia, Micrognathia, Non-midline cleft lip, Cle... ORPHA:1915
Retinitis Pigmentosa 89
Bicuspid aortic valve, Postaxial polydactyly, Micronodular cirrhosis, Esophageal varix, Hepatospl... OMIM:618955
Chromosome 6Q11-Q14 Deletion Syndrome
Thin upper lip vermilion, Single transverse palmar crease, Prominent nasal bridge, Broad nasal ti... OMIM:613544
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Cario... OMIM:617102
Aase-Smith Syndrome
Camptodactyly of finger, Trismus, Cleft palate, Aplasia/Hypoplasia of the radius, Talipes equinov... ORPHA:916
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Overriding aorta, Single transverse palmar crease, Micrognathia, Patent... ORPHA:3304
Stickler Syndrome, Type Ii
Arachnodactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Long fingers, High, narro... OMIM:604841
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Micrognathia, Cleft palate, Tooth agenesis, Abnormal aortic morphology... ORPHA:1166
Phaver Syndrome
Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Ventricular septal defect,... ORPHA:2876
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Anteverted nares, Carious teeth, Deep philtrum, Abnormality of the elbow, Thick lower lip vermili... ORPHA:2701
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Cleft palate, Mitral valve prolapse, Abnormal epiphysis morphology, Lo... ORPHA:90653
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, High palate, Long philtrum, Short nose, Anemia ORPHA:2598
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand... OMIM:175700
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Depressed nasal bridge, Anteverted nares, Ventricular sept... OMIM:145420
Char Syndrome
Toe syndactyly, Depressed nasal bridge, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, V... ORPHA:46627
2Q32Q33 Microdeletion Syndrome
Broad hallux phalanx, Anteverted nares, Prominent nasal bridge, Arachnodactyly, Dental crowding, ... ORPHA:251019
Acrodysostosis
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata... ORPHA:950
Peho-Like Syndrome
Short nose, Retrognathia, Open mouth, Tapered finger OMIM:617507
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Anteverted nares, Long philtrum, Short nose, Smooth philtrum ORPHA:46
Hydrolethalus Syndrome 2
Micrognathia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Preaxial foot... OMIM:614120
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... ORPHA:1352
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Prominent nose, Asplenia, Thrombocytopen... OMIM:185070
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... OMIM:608670
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Dental crowding, Gastroesophageal reflux, Atrial septal defect, Broad hall... ORPHA:353281
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... ORPHA:93259
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Aplasia of the distal phalanx of the 5th finger, Oligodontia, Promine... ORPHA:364577
Bartsocas-Papas Syndrome 2
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Small hand, Bilateral cle... OMIM:619339
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Cleft Palate, Isolated
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Holoprosencephaly 9
Anophthalmia, Depressed nasal bridge, Optic nerve hypoplasia, Hypoplasia of the premaxilla, Cleft... OMIM:610829
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Otodental Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Abnormal dental p... ORPHA:2791
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Thrombocytopenia, Neutropenia, Microphthalmia, Leukemia, Anemia OMIM:614082
Autosomal Dominant Omodysplasia
Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, Short palm, M... ORPHA:93328
Burn-Mckeown Syndrome
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Underd... OMIM:608572
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preax... ORPHA:1120
Townes-Brocks Syndrome 1
Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Atrial septal defect, 2-4 finger ... OMIM:107480
Tetrasomy 15Q26
Microretrognathia, Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, High palate... OMIM:614846
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Tracheoesophageal fistula, Dysphagia, Lymphadenopathy ORPHA:142
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Lympho... ORPHA:210548
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, ... OMIM:600987
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Pulmo... OMIM:616894
Warburg Micro Syndrome 1
Overlapping toe, Anteverted nares, Micrognathia, Wide nasal bridge, Thin vermilion border, Narrow... OMIM:600118
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia, Micrognathia, Talipes equinovarus, Prominent nose OMIM:616171
Renal Agenesis, Bilateral
Non-midline cleft lip, Depressed nasal ridge, Tracheoesophageal fistula, Cleft palate, Sirenomeli... ORPHA:1848
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Toe syndactyly, Bulbous nose, Patent ductus arteriosus, Wide nasal bridge, ... ORPHA:250989
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Nasal polyposis, Abnormal atrial arrangement, Intestinal malrotation, Sit... ORPHA:244
Dyskeratosis Congenita
Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, Periodontitis, Hepatome... ORPHA:1775
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Monosomy 18Q
Mandibular prognathia, Abnormal palmar dermatoglyphics, Prominent nose, Secundum atrial septal de... ORPHA:1600
Lowry-Maclean Syndrome
Choanal atresia, Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia... ORPHA:2409
Sirenomelia
Absence of the sacrum, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, ... ORPHA:3169
Mirage Syndrome
Rocker bottom foot, Radial club hand, Esophageal stricture, Thrombocytopenia, Patent ductus arter... OMIM:617053
Subaortic Stenosis-Short Stature Syndrome
Anteverted nares, Micrognathia, Biliary tract abnormality, Membranous subvalvular aortic stenosis... ORPHA:3191
Nance-Horan Syndrome
Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Abnormality of the dentition, Pr... ORPHA:627
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ... ORPHA:1458
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Gillespie Syndrome
Hypoplasia of the iris, Truncus arteriosus, Aniridia OMIM:206700
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Hamamy Syndrome
Microcytic anemia, Micrognathia, High palate, Atrial septal defect, Clinodactyly of the 5th finge... OMIM:611174
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... ORPHA:971
Arthrogryposis, Distal, Type 2B1
Mandibular prognathia, Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger,... OMIM:601680
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly OMIM:610023
Carpenter Syndrome 2
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ... OMIM:614976
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Long toe, Arachnodactyly, Broad nasal tip, Cleft lip, Cleft palate, Large hands OMIM:300263
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Arachnodactyly, Dental crowding, Narrow mouth, Mitral valve prolapse, Long philtrum, Bilateral ta... OMIM:615539
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cleft palate, Cleft upper lip OMIM:120433
Oculodentodigital Dysplasia, Autosomal Recessive
Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Hypoplasia of the primary te... OMIM:257850
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Asplenia, Cleft lip, Cleft palate, Abdominal situs inver... OMIM:619123
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Rhizomel... ORPHA:93329
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Double outlet left ventricle, Ventricular septal defect, Intestinal malrotati... OMIM:600001
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... OMIM:306955
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Meckel Syndrome, Type 2
Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Cleft palate, Polyd... OMIM:603194
Oculodentodigital Dysplasia
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Atrial septal defect,... OMIM:164200
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Wide nasal bridge, Broad philtrum, ... OMIM:618577
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Iliac crest serration, Metaphyse... OMIM:613320
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Enlarged epiphyses, Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Pierre-Robin ... OMIM:184840
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef... ORPHA:79113
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Single transverse palmar crease, Broad nasal tip, Clinodactyly, Recurrent ... ORPHA:391372
Tetraploidy
Micrognathia, Radial club hand, Cleft palate, Aplasia/Hypoplasia of the thymus, Short philtrum, A... ORPHA:3305
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Open mouth, D... OMIM:614744
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, Dental malocclusion, Wide ... OMIM:618727
Even-Plus Syndrome
Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, High palate, Hypodontia, Atrial sep... OMIM:616854
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Failure of eruption of permanent teeth, Submucous cleft hard palate, Anosmia, Singl... ORPHA:2250
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... OMIM:115470
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly ORPHA:64754
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Single transverse palmar crea... OMIM:613443
Cerebrooculofacioskeletal Syndrome 4
Prominent nasal bridge, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Adducted thumb... OMIM:610758
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Abnormal ... ORPHA:1507
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,... ORPHA:439822
Fibrochondrogenesis 2
Anteverted nares, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypop... OMIM:614524
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Ventricular septal defect, Abnormality of the dentition, Deep philtru... ORPHA:251038
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Malar flattening, Short nose, Retrognathia, Open mouth OMIM:613670
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Neutropenia, Clinod... ORPHA:193
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Depressed nasal bridge, Choanal atresia, Ventricu... ORPHA:284169
Zechi-Ceide Syndrome
Mandibular prognathia, Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cle... ORPHA:217017
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2