Gene Summary

Name:
intraflagellar transport 140
Synonyms:
Tce5,  Wdtc2

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.

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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

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

DSS Histology

Images

7 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 71 images

Human diseases caused by Ift140 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Ift140 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Ift140 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Renal agenesis, Abnormal lung morphology, Congenital m... ORPHA:294975
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Cleft upper lip,... OMIM:231060
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Coarctation of ao... OMIM:217095
Heterotaxy, Visceral, 4, Autosomal
Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Right aortic ar... OMIM:613751
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Enlarged kidney, Hepatomegaly, Talipes equinovaru... OMIM:615415
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Dislocated radial head, Limited elbow extension and supination, Truncus arteriosu... ORPHA:401935
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, Bilateral single transverse palmar creases, High, narrow palate, Renal hy... ORPHA:2516
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus, Syndactyly OMIM:215850
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormal form of the vert... ORPHA:1106
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Truncus arteriosus, Cleft palate, Short distal phalanx of finger, Vent... OMIM:601355
Adams-Oliver Syndrome 6
Truncus arteriosus, Esophageal varix, Portal hypertension, Renal hypoplasia, Foot oligodactyly, S... OMIM:616589
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ... ORPHA:228190
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
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Microphthalmia, Rhizomelia, Proxima... ORPHA:93267
ERI1-related disease
Dislocated radial head, Pectus carinatum, Oligodactyly, Pectus excavatum, Delayed skeletal matura... OMIM:608739
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Bilateral single transverse palmar creases, Atrial septal defect, Isomerism, Partial anomalous pu... OMIM:619657
Hypoglossia With Situs Inversus
Situs inversus totalis, Narrow mouth, High palate, Asplenia, Microglossia, Hypodontia, Polysplenia OMIM:612776
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Carpenter Syndrome 1
Sensorineural hearing impairment, Abnormal pinna morphology, Flared iliac wing, Pulmonic stenosis... OMIM:201000
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Frontonasal Dysplasia 1
Microphthalmia, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Frontal cutaneous... OMIM:136760
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Microphthalmia, Cardiac rhabdomyoma, Hamartomatous stomach polyps, Abnormal stern... OMIM:109400
Ehlers-Danlos Syndrome, Classic-Like, 2
Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Bruising susceptibility, Mitral valve pro... OMIM:618000
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal femur morphology, Abnormal bone ossification, Abnormally o... ORPHA:166119
Achondrogenesis Type 1B
Hydrops fetalis, Polyhydramnios, Narrow chest, Short thorax, Aplasia/Hypoplasia of the lungs, Abn... ORPHA:93298
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal lung lobation, Microphthalmia, Polyhydramnios, Low-set, posteriorly rotated ears, Enceph... ORPHA:2166
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short ribs, Decreased skull ossification, Ascites, Multiple prenatal fractures, Thoracic hypoplas... OMIM:616897
Greenberg Dysplasia
Retrognathia, Disproportionate short-limb short stature, Short long bone, Short ribs, Short metac... OMIM:215140
Achondrogenesis Type 1A
Hydrops fetalis, Polyhydramnios, Narrow chest, Short thorax, Recurrent fractures, Short foot, Abn... ORPHA:93299
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Cleft palate, Smooth philtrum, Thin upper lip vermilion OMIM:611867
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Recurrent sinusitis, Decreased fetal movement, Joint hypermobility, Craniosynos... OMIM:213980
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Left Isomerism, Congeni... OMIM:618300
Camptodactyly Syndrome, Guadalajara Type 1
Abnormal form of the vertebral bodies, Pectus carinatum, Microtia, Pectus excavatum, Delayed skel... ORPHA:1327
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Orofacial cleft, 2-3 toe syndactyly, Postaxial hand polydactyly, Coarctation of aorta, Broad hall... OMIM:217085
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu... ORPHA:244
Aarskog-Scott Syndrome
Abnormal pinna morphology, Pectus excavatum, Umbilical hernia, Joint hypermobility, Low-set, post... ORPHA:915
Kagami-Ogata Syndrome
Kyphoscoliosis, Retrognathia, Microtia, Pulmonic stenosis, Premature birth, Coxa valga, Long clav... OMIM:608149
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Transposition of the great arteries, Atrioventricular canal defect, Dextr... OMIM:605376
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Sensorineural he... OMIM:305620
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy, Asplenia OMIM:601086
Atelosteogenesis, Type I
Disproportionate short-limb short stature, Tibial bowing, Clubbing, Short metacarpal, Short humer... OMIM:108720
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Posteriorly placed anus, Short long bone, Pulmonic stenosis, Ca... OMIM:306955
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Cubitus valgus, Generalized lipodystrophy, Metaphyseal striations, Conge... OMIM:608154
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Fibrochondrogenesis 1
Narrow greater sciatic notch, Abnormal pinna morphology, Short long bone, Short ribs, Hypoplastic... OMIM:228520
Dyssegmental Dysplasia, Silverman-Handmaker Type
Short long bone, Short ribs, Hypoplastic ischia, Abnormal heart morphology, Severe short stature,... ORPHA:1865
Achondrogenesis
Hydrops fetalis, Polyhydramnios, Narrow chest, Inguinal hernia, Short thorax, Abnormality of bone... ORPHA:932
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Pectus carinatum, Abnormal pinna morphology, Pectus excavatum, Arachnodac... OMIM:182212
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Short distal phalanx of finger, Joint hypermo... ORPHA:2484
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Retrognathia, Congenital diaphragmatic hernia, Short long bone, Dec... OMIM:263210
Chondrodysplasia, Blomstrand Type
Stillbirth, Abnormal vertebral morphology, Hydrops fetalis, Polyhydramnios, Narrow chest, Flared ... OMIM:215045
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Proximal placement o... ORPHA:1120
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Arachnodac... OMIM:265000
Trisomy 13
Bilateral single transverse palmar creases, Microphthalmia, Sensorineural hearing impairment, Kyp... ORPHA:3378
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Left Isomerism, ... OMIM:619702
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Triploidy
Polyhydramnios, Low-set, posteriorly rotated ears, Narrow chest, Meningocele, Finger syndactyly, ... ORPHA:3376
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Right atrial isomerism, Ascendin... OMIM:270100
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Acrocardiofacial Syndrome
Hypospadias, Abnormal metacarpal morphology, Hypoplasia of penis, Finger syndactyly, Hallux valgu... ORPHA:2008
Frontometaphyseal Dysplasia
Limited elbow movement, Mixed hearing impairment, Limitation of knee mobility, Dislocated radial ... ORPHA:1826
Microcephaly-Micromelia Syndrome
Microphthalmia, Oligodactyly, Absent thumb, Absent radius, Craniosynostosis, Intrauterine growth ... OMIM:251230
Achondrogenesis, Type Ib
Neonatal short-limb short stature, Absent or minimally ossified vertebral bodies, Stillbirth, Pol... OMIM:600972
Martsolf Syndrome 1
Microphthalmia, Slender ulna, Pectus carinatum, Cardiomyopathy, Pectus excavatum, Short metacarpa... OMIM:212720
Brachytelephalangic Chondrodysplasia Punctata
Mixed hearing impairment, Optic nerve hypoplasia, Short distal phalanx of toe, Short distal phala... ORPHA:79345
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, A... ORPHA:2839
Short-Rib Thoracic Dysplasia 12
Anencephaly, Abnormal pinna morphology, Short long bone, Short ribs, Ascites, Intestinal malrotat... OMIM:269860
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Accelerated skeletal maturation, Abnormal heart morphology, Syndactyly, Umbilical he... OMIM:175700
Holzgreve Syndrome
Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hand polydactyly, Hypoplastic le... OMIM:236110
Double Outlet Right Ventricle
Heterotaxy, Truncus arteriosus, Pulmonary artery atresia, Ventricular septal defect, Narrow mouth... ORPHA:3426
Otopalatodigital Syndrome Type 2
Abnormal pinna morphology, Glossoptosis, Flared iliac wing, Hypoplastic frontal sinuses, Myelomen... ORPHA:90652
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Czeizel-Losonci Syndrome
Tracheoesophageal fistula, Myelomeningocele, Split foot, 1-2 finger syndactyly, Prominent antitra... ORPHA:2437
Lethal Congenital Contracture Syndrome 10
Short long bone, Femoral bowing, Intrauterine growth retardation, Cardiomegaly, Adducted thumb, O... OMIM:617022
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Cardiomegaly, Right aortic arch... OMIM:620642
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Te... OMIM:617478
Trisomy 1Q
Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus, Anoph... ORPHA:261344
Mosaic Trisomy 9
Rocker bottom foot, Microphthalmia, Intestinal malrotation, Intrauterine growth retardation, Olig... ORPHA:99776
Shprintzen-Goldberg Syndrome
Retrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Joint st... ORPHA:2462
Thrombocytopenia-Absent Radius Syndrome
Sensorineural hearing impairment, Broad thumb, Aplasia/hypoplasia of the humerus, Cervical ribs, ... ORPHA:3320
Microphthalmia, Syndromic 9
Multilobulated spleen, Right aortic arch with mirror image branching, Pulmonic stenosis, Renal ma... OMIM:601186
Lujan-Fryns Syndrome
Scoliosis, High palate, Pectus excavatum, Low-set ears, Hypoplasia of the maxilla, Camptodactyly ... ORPHA:776
Verheij Syndrome
Truncus arteriosus, Renal cyst, Renal agenesis, Renal hypoplasia, Clinodactyly, Cleft palate, Lon... OMIM:615583
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Abnormal heart morphology, Interrupted inferior vena ... ORPHA:185
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Pectus carinatum, Microtia, Broad thumb, Hypoplasia of the maxill... ORPHA:261295
Pallister-Hall Syndrome
Microphthalmia, Microtia, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesome... OMIM:146510
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Abnormal hip bone morphology, Abnormal lower lip morphology, Vesicouret... ORPHA:1166
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ... ORPHA:210122
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Retrognathia, Microphthalmia, Anophthalmia, Hypoplastic left atr... OMIM:615524
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Single transverse palmar crease, Wide ... OMIM:201170
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordos... ORPHA:2522
Oculodentodigital Dysplasia
Abnormal form of the vertebral bodies, Abnormal pinna morphology, Umbilical hernia, Abnormality o... ORPHA:2710
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Clinodactyly of the 5th finger, Camptodactyly, Asplenia, Pulmonic ... OMIM:619123
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Flared metaphysis, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Os... OMIM:156510
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Narrow chest, Abnormal form ... ORPHA:1354
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Optic nerve hypoplasia, Pectus excavatum, Broad thumb, Bicuspid aortic valve, Sho... ORPHA:508498
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Inguinal hernia, Camptodactyly, Spina bifida, Mitral valve prolapse, Dermatoglyphic ridges abnorm... OMIM:211960
Neurofaciodigitorenal Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Abnormal tragus morphology, Mandibular progn... ORPHA:2673
Microgastria-Limb Reduction Defect Syndrome
Renal hypoplasia/aplasia, Abnormal finger morphology, Oligodactyly, Tracheoesophageal fistula, In... ORPHA:2538
Orofaciodigital Syndrome Ii
Pectus excavatum, Syndactyly, Metaphyseal irregularity, Tongue nodules, Hydrocephalus, Scoliosis,... OMIM:252100
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Wrist swelling, Metacarpal osteolysis, Osteopenia, Congenital diaphragmatic herni... OMIM:166300
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Kniest Dysplasia
Enlarged metaphyses, Aplasia/Hypoplasia of the lens, Short long bone, Dumbbell-shaped long bone, ... ORPHA:485
Holoprosencephaly 9
Microphthalmia, Bilateral cleft palate, Optic nerve hypoplasia, Underdeveloped tragus, Hypoplasia... OMIM:610829
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hy... ORPHA:96334
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Femoral bowing, Broad thumb, Bilateral radial aplasia, Prolonged bleeding fo... OMIM:274000
Mosaic Trisomy 20
Retrognathia, Fused cervical vertebrae, Narrow chest, Scoliosis, Vertebral segmentation defect, I... ORPHA:1724
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Anal... OMIM:174200
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Cohen Syndrome
Delayed puberty, Microphthalmia, Abnormal hip bone morphology, Sandal gap, Sensorineural hearing ... ORPHA:193
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Cardiomyopathy, High palate, Low-set ears, Short stature, Thorac... OMIM:616549
Aicardi Syndrome
Postnatal growth retardation, Butterfly vertebrae, Microphthalmia, Proximal placement of thumb, L... OMIM:304050
Gorlin Syndrome
Abnormal vertebral morphology, Palmar pits, Vertebral wedging, Hydrocephalus, Mandibular prognath... ORPHA:377
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... OMIM:108721
Schneckenbecken Dysplasia
Disproportionate short-limb short stature, Snail-like ilia, Short long bone, Flat acetabular roof... OMIM:269250
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Meckel Syndrome, Type 8
Polydactyly, Occipital encephalocele, Microphthalmia, Narrow chest, Anophthalmia, Encephalocele, ... OMIM:613885
Stickler Syndrome Type 1
Platyspondyly, Abnormal vertebral epiphysis morphology, Sensorineural hearing impairment, Hypopla... ORPHA:90653
Multicentric Osteolysis, Nodulosis, And Arthropathy
Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu... OMIM:259600
Mucopolysaccharidosis, Type Vii
Narrow greater sciatic notch, Pectus carinatum, Sensorineural hearing impairment, Large iliac win... OMIM:253220
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero... OMIM:144750
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Abnormality of the pulmonary vasculature, Microphthalmia, Short ... ORPHA:2092
Bardet-Biedl Syndrome 10
Polydactyly, Renal insufficiency, Renal cyst OMIM:615987
Skraban-Deardorff Syndrome
Absent cupid's bow, Widely spaced teeth, Right aortic arch, Thick upper lip vermilion, Cleft pala... OMIM:617616
Renal Tubular Dysgenesis
Bilateral single transverse palmar creases, Proximal tubulopathy, Nephropathy, Pulmonary hypoplas... ORPHA:3033
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Disproportionate short-limb short stature, Hypoplastic iliac wi... ORPHA:763
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdeveloped tragus, A... ORPHA:79113
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Comple... ORPHA:363417
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormality of the ear, High, narrow palate, Tricuspid valve prolapse, Aniridia, Inguinal hernia,... ORPHA:1101
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Clinodactyly of the 5th finger, Glossoptosis,... OMIM:311895
Melnick-Needles Syndrome
Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavat... OMIM:309350
Distal Duplication 14Q
Abnormal lung lobation, Abnormal aortic morphology, Abnormality of the upper urinary tract, Paten... ORPHA:1705
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Scol... OMIM:214300
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Intervertebral space narrowing, Mandibular prognathia, Scoliosis, Hypopl... OMIM:601216
Cohen Syndrome
Delayed puberty, High, narrow palate, Genu valgum, Cubitus valgus, Short metatarsal, Single trans... OMIM:216550
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Oligodactyly, Hip dislocation, Hypoplasia of the ulna, Hyp... ORPHA:3258
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Decreased fetal movement, Retrognathia, Recurrent otitis media, Clinodactyly of the 5th finger, O... OMIM:619758
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Microphthalmia, Short long bone, Flat acetabular roof, Short ribs, ... OMIM:616300
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Postnatal growth retardation, Abnormal bone ossification, Abnormal diaphysis morphology, Generali... ORPHA:73230
Mulibrey Nanism
Congestive heart failure, Hydrops fetalis, Cardiomegaly, Recurrent lower respiratory tract infect... OMIM:253250
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, High, narrow palate, Persistent fetal circulation, Patent ductus arteriosus... OMIM:612863
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Pectus carinatum, Sensorineural hearing impairment, Short ... ORPHA:192
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... ORPHA:1455
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Recurrent otitis media, Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cu... ORPHA:370010
Mosaic Trisomy 1
Rocker bottom foot, Congenital diaphragmatic hernia, Microphthalmia, Broad 2nd toe, Abnormal pinn... ORPHA:1692
Achondrogenesis, Type Ii
Short tubular bones of the hand, Stillbirth, Hydrops fetalis, Polyhydramnios, Barrel-shaped chest... OMIM:200610
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney... OMIM:615382
Campomelic Dysplasia
Kyphoscoliosis, Disproportionate short-limb short stature, Absent sternal ossification, Dislocate... OMIM:114290
Meacham Syndrome
Bicuspid aortic valve, Enlarged kidney, Transposition of the great arteries, Cardiac total anomal... OMIM:608978
Infantile Sialic Acid Storage Disease
Osteopenia, Congestive heart failure, Hydrops fetalis, Hydrocephalus, High palate, Ascites, Prema... OMIM:269920
Apert Syndrome
Chronic otitis media, Limited elbow movement, Pectus carinatum, Broad thumb, Bifid uvula, Syndact... OMIM:101200
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava... OMIM:311300
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Microphthalmia With Limb Anomalies
Retrognathia, Microphthalmia, Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocati... OMIM:206920
Thomas Syndrome
Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Multicystic kidney dysplasia, Hypoplasti... ORPHA:3316
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Multiple Pterygium Syndrome, X-Linked
Short finger, Hypoplastic heart, Polyhydramnios, Multiple pterygia, Joint dislocation, Thin ribs,... OMIM:312150
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Bardet-Biedl Syndrome 16
Polydactyly, Bronchiolitis, Renal cyst, Renal agenesis, Renal dysplasia, Recurrent respiratory in... OMIM:615993
Van Maldergem Syndrome 2
Sensorineural hearing impairment, Microtia, Joint hypermobility, Clinodactyly, Short 4th metacarp... OMIM:615546
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal fibula morphology, Aqueductal stenosis, Tibial bowing, Bowing of the long bones, Abnorma... ORPHA:3035
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Low-set, posteriorly... ORPHA:1307
Distal Duplication 15Q
High palate, Pectus excavatum, Anal atresia, Omphalocele, Joint stiffness, Camptodactyly of finge... ORPHA:1707
Brachydactyly, Type B1
Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplastic sacrum, Wide anterior fontane... OMIM:113000
Dislocation Of The Hip-Dysmorphism Syndrome
Hearing abnormality, Abnormal tricuspid valve morphology, Inguinal hernia, Congenital hip disloca... ORPHA:2412
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Retrognathia, Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Nonimmune h... OMIM:265380
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Hypoplasia of the maxilla, Camptodactyly of finger, Short palm, Clinodactyly, Short ... ORPHA:85279
Weill-Marchesani Syndrome 2
Flexion contracture of toe, Short metacarpal, Broad metatarsal, Pulmonic stenosis, Aortic valve s... OMIM:608328
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Retrognathia, Intrauterine growth retardation, Craniosynostosis,... ORPHA:2409
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Microtia, Pectus excavatum, Intestinal malrotation, Arachnodactyly, P... OMIM:300373
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Narrow chest, Pectus carinatum, Mandibular prognathia, Scoliosis, High palate, Pectus excavatum, ... OMIM:300676
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa... OMIM:304120
Joubert Syndrome 18
Intrahepatic biliary atresia, Bowing of the long bones, Renal cyst, Camptodactyly, Postaxial poly... OMIM:614815
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge... ORPHA:2141
Aarskog-Scott Syndrome
Delayed puberty, Radial deviation of finger, Pectus excavatum, Syndactyly, Joint hypermobility, S... OMIM:305400
Sweeney-Cox Syndrome
Short philtrum, Short clavicles, Patent foramen ovale, High palate, Narrow mouth, Anal atresia, A... OMIM:617746
Turnpenny-Fry Syndrome
Hypoplasia of the primary teeth, Pectus carinatum, Microtia, Thoracic kyphoscoliosis, Pectus exca... OMIM:618371
Distal Deletion 19P
Pulmonary valve atresia, Tricuspid valve prolapse, Low-set, posteriorly rotated ears, Sensorineur... ORPHA:96129
Sialidosis Type 2
Hydrops fetalis, Inguinal hernia, Short thorax, Pectus carinatum, Ascites, Kyphosis, Osteoporosis... ORPHA:87876
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Elbow pain, Congenital finger flexion contracture... ORPHA:93320
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Accelerated skeletal maturation, Intrauterine growth retardat... ORPHA:439822
Bardet-Biedl Syndrome 19
Renal insufficiency, Y-shaped metacarpals, Partial atrioventricular canal defect, Postaxial polyd... OMIM:615996
Trisomy 18
Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Microphthalmia, Abno... ORPHA:3380
Shashi-Pena Syndrome
Retrognathia, Deep palmar crease, Cervical C2/C3 vertebral fusion, Scoliosis, Low-set ears, Short... OMIM:617190
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Hydrocephalus, Scoliosis,... ORPHA:1834
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Kyphoscoliosis, Optic nerve hypoplasia, Prominent fingertip ... OMIM:602535
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pectus excavatum, Intestinal malrotation, Overlapping toe, Long toe, Patent foramen ovale, Scolio... OMIM:618316
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal ventriculoarterial connection, Hepatomegaly, Abnormal aortic ... ORPHA:860
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Prolonged QT interval, Prominent U wave, Shor... OMIM:170390
Aicardi Syndrome
Delayed puberty, Butterfly vertebrae, Microphthalmia, Bifid ribs, Intestinal polyposis, Scoliosis... ORPHA:50
Vacterl/Vater Association
Congenital diaphragmatic hernia, Occipital encephalocele, Anencephaly, Tracheoesophageal fistula,... ORPHA:887
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the kidney, Abnormality of the dentition, Renal cyst, Syndactyly, Bra... OMIM:615982
Meier-Gorlin Syndrome 1
Breech presentation, Absent sternal ossification, Pectus carinatum, Microtia, Short ribs, Delayed... OMIM:224690
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Bilateral single transverse palmar creases, Retrognathia, Hypoplastic iliac wing, Sensorineural h... OMIM:235510
Multiple Pterygium Syndrome, Lethal Type
Short finger, Hypoplastic heart, Polyhydramnios, Multiple pterygia, Joint dislocation, Thin ribs,... OMIM:253290
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Retrognathia, Butterfly vertebrae, Muscular ventricular septal defect, Fused cervical vertebrae, ... OMIM:619227
Van Maldergem Syndrome 1
Sensorineural hearing impairment, Microtia, Joint hypermobility, Clinodactyly, Short 4th metacarp... OMIM:601390
Meckel Syndrome, Type 1
Radial deviation of finger, Intestinal malrotation, Wide mouth, Splenomegaly, Syndactyly, Clinoda... OMIM:249000
3C Syndrome
Abnormal hip bone morphology, Kyphosis, Intestinal malrotation, Pulmonic stenosis, Abnormal mitra... ORPHA:7
Acrodysostosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Accelerated s... ORPHA:950
Pseudodiastrophic Dysplasia
Rhizomelia, Scoliosis, Omphalocele, Malar flattening, Platyspondyly, Phalangeal dislocation, Elbo... ORPHA:85174
Weill-Marchesani Syndrome 1
Broad metatarsal, Pulmonic stenosis, Aortic valve stenosis, Joint stiffness, Broad ribs, Narrow p... OMIM:277600
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Moyamoya phenomenon, Broad finger, Abnormal left ventricle morphology, Premature coronary artery ... OMIM:300845
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal metacarpal morphology, Abnormal form of the vertebral bodies, Hydrocephalus, Hypoplasia ... ORPHA:93262
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... ORPHA:628
Camurati-Engelmann Disease, Type 2
Delayed puberty, Osteopenia, Hyperostosis, Thoracolumbar scoliosis, Hip contracture, Mitral valve... OMIM:606631
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
C Syndrome
Radial deviation of finger, Dislocated radial head, Short metacarpal, Delayed skeletal maturation... OMIM:211750
Maxillonasal Dysplasia
Patchy distortion of vertebrae, Mandibular prognathia, Scoliosis, Vertebral clefting, Hypoplasia ... ORPHA:1248
Orofaciodigital Syndrome Xvii
Polydactyly, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal, Renal hypopla... OMIM:617926
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Abnormality of the amniotic fluid, Micrognathia, Joint contracture, Nonimmune hyd... OMIM:608540
Platyspondylic Dysplasia, Torrance Type
Disproportionate short-limb short stature, Hypoplastic pelvis, Short distal phalanx of finger, Ge... ORPHA:85166
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Retrognathia, Wrist flexion contracture, Pectus excavatum, Flexion contracture of finger, Thoraci... ORPHA:254528
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Bell-shaped thorax, Meningocele, Short hard palate, Hydranencepha... ORPHA:1393
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Cardioacrofacial Dysplasia 1
Atrioventricular canal defect, Genu valgum, Postaxial polydactyly, Hypoplasia of the maxilla, Lim... OMIM:619142
Myhre Syndrome
Hypertension, Large iliac wing, Joint stiffness, Bifid uvula, Severe short stature, Intrauterine ... ORPHA:2588
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta, Bifid sternum OMIM:140850
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... OMIM:612961
Duane-Radial Ray Syndrome
Microphthalmia, Pectoralis hypoplasia, Sandal gap, Sensorineural hearing impairment, Short humeru... OMIM:607323
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elb... OMIM:253000
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Multicystic kidney dysplasia, Preaxial foot polydactyly, Postaxial hand poly... ORPHA:2091
Vacterl With Hydrocephalus
Retrognathia, Microphthalmia, Abnormal form of the vertebral bodies, Tracheoesophageal fistula, A... ORPHA:3412
Fountain Syndrome
Abnormal metacarpal morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies,... ORPHA:3219
Diabetic Embryopathy
Single umbilical artery, Transposition of the great arteries, Low-set, posteriorly rotated ears, ... ORPHA:1926
Emanuel Syndrome
Atrial septal defect, Unilateral renal agenesis, Dental crowding, Recurrent urinary tract infecti... OMIM:609029
Chromosome 9P Deletion Syndrome
Clinodactyly of the 5th toe, Retrognathia, Sandal gap, Heart murmur, Long toe, Narrow palate, Per... OMIM:158170
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hypospadias, 2-3 toe syndactyly, Truncus arteriosus, Absent thumb, Short th... OMIM:617516
Achondrogenesis, Type Ia
Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull... OMIM:200600
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Lymphadenopathy, Asplenia, Nephritis, Coombs-positive hemolytic anemia, ... OMIM:614034
Split-Hand/Foot Malformation 3
Abnormal pinna morphology, High palate, Split hand, Camptodactyly, Hypoplasia of the maxilla, Cle... OMIM:246560
Feingold Syndrome 1
Everted lower lip vermilion, Tracheoesophageal fistula, Tricuspid atresia, Accessory spleen, Aspl... OMIM:164280
Acalvaria
Abnormal lung lobation, Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Omphalocele, Cle... ORPHA:945
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Low-set, posteriorly rotated ears, Anencephaly, Aplasia/Hypoplasia of the... ORPHA:1908
Chromosome 10Q26 Deletion Syndrome
Radial deviation of finger, Sandal gap, Sensorineural hearing impairment, Prominent fingertip pad... OMIM:609625
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Lateral Meningocele Syndrome
Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Umbilical hernia, Bicuspid aortic valve, ... OMIM:130720
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate OMIM:261800
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Hyperlordosis, Cardiomyopathy, Kyphosis, Joint stiffness, ... ORPHA:354
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus... OMIM:142900
Frontorhiny
Microphthalmia, Low-set, posteriorly rotated ears, Encephalocele, Scoliosis, Hypoplastic frontal ... ORPHA:391474
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Low-set ears, Hypoplas... OMIM:617895
Acrodysostosis 1 With Or Without Hormone Resistance
Disproportionate short-limb short stature, Cone-shaped epiphyses of the phalanges of the hand, Di... OMIM:101800
Holoprosencephaly 7
Semilobar holoprosencephaly, Microphthalmia, Bilateral microphthalmos, Alobar holoprosencephaly, ... OMIM:610828
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Jaundice, Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Porta... OMIM:619902
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Marfan Syndrome
Limited elbow movement, Retrognathia, Reduced bone mineral density, Spondylolisthesis, Pectus car... ORPHA:558
Chromosome 1P36 Deletion Syndrome, Distal
Asymmetry of the ears, Sensorineural hearing impairment, Microtia, Delayed skeletal maturation, B... OMIM:607872
Distal 22Q11.2 Microdeletion Syndrome
Sandal gap, Arachnodactyly, Short distal phalanx of finger, Coxa valga, Truncus arteriosus, Short... ORPHA:261330
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Increased bone mineral density, Abnormal dental enamel morphology... ORPHA:1798
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Osteolysis, Short stature, Hypoplasia of the maxilla ORPHA:2776
Myhre Syndrome
Microphthalmia, Radial deviation of finger, Hypoplastic iliac wing, Microtia, Short long bone, Hy... OMIM:139210
Mckusick-Kaufman Syndrome
Renal hypoplasia/aplasia, Aganglionic megacolon, Tarsal synostosis, Abnormal metacarpal morpholog... ORPHA:2473
Van Den Ende-Gupta Syndrome
Dislocated radial head, Small earlobe, Femoral bowing, Short ribs, Pectus excavatum, Arachnodacty... OMIM:600920
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Low-set ears, Hypoplasia of the maxilla, Short stature, Hearing impairment,... OMIM:614261
Stormorken Syndrome
Anemia, Hematuria, Short philtrum, Howell-Jolly bodies, Asplenia, Stroke-like episode, Hypoplasti... OMIM:185070
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Scoliosis, High palate, Hypoplasia of the maxilla, Macrotia, Long fingers, Re... OMIM:218000
Distal Xq28 Microduplication Syndrome
Absent antihelix, Predominantly lower limb lymphedema, Patent foramen ovale, Microtia, High palat... ORPHA:293939
Femoral-Facial Syndrome
Limited elbow movement, Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Premat... OMIM:134780
Gracile Bone Dysplasia
Flared metaphysis, Slender long bone, Ankyloglossia, Asplenia, Hypoplastic spleen, Brachydactyly,... OMIM:602361
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Scoliosis, Anterior encephalocele, Low-set ears, Omphalocele, Foot oligod... OMIM:601357
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short long bone, Flat acetabular roof, Microdontia, Mesomelia, Syndactyly, Short distal phalanx o... OMIM:614091
Cerebrofaciothoracic Dysplasia
Bifid ribs, Polyhydramnios, Low-set, posteriorly rotated ears, Narrow chest, Scoliosis, Hemiverte... ORPHA:1394
Apert Syndrome
Narrow palate, Esophageal atresia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Delayed er... ORPHA:87
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Metatropic Dysplasia
Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Severe short stature, Low-set, ... ORPHA:2635
Bardet-Biedl Syndrome 11
Polydactyly, Abnormality of the kidney OMIM:615988
Baller-Gerold Syndrome
Limited elbow movement, Mixed hearing impairment, Carpal bone aplasia, Optic nerve hypoplasia, Ol... OMIM:218600
Marfan Syndrome
Kyphoscoliosis, Retrognathia, Spondylolisthesis, Pectus carinatum, Pectus excavatum, Arachnodacty... OMIM:154700
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the hand, Clinodactyly of the 5th finger, Clinodactyly of the 3rd toe, Abnormality... ORPHA:521308
Pseudotrisomy 13 Syndrome
Microphthalmia, Tricuspid atresia, Dextrocardia, 11 pairs of ribs, Encephalocele, Hydrocephalus, ... OMIM:264480
Tetrasomy 15Q26
Hypoplastic aortic arch, High palate, Camptodactyly, Arachnodactyly, Hydronephrosis, Patent ductu... OMIM:614846
Cleidocranial Dysplasia 2
Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, D... OMIM:620099
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Pectus carinatum, Thoracic kyphoscoliosis, High palate, Increased laxity of ankles, Low-set ears,... ORPHA:481152
Bartsocas-Papas Syndrome 1
Microphthalmia, Hypoplastic iliac wing, Microtia, Oligodactyly, Short metacarpal, Inferiorly posi... OMIM:263650
Hydrolethalus
Retrognathia, Microphthalmia, Polyhydramnios, Low-set, posteriorly rotated ears, Anencephaly, Ano... ORPHA:2189
Ehlers-Danlos Syndrome, Classic Type, 1
Premature birth following premature rupture of fetal membranes, Recurrent lower respiratory tract... OMIM:130000
Craniofacial-Deafness-Hand Syndrome
Abnormality of the wrist, Sensorineural hearing impairment, Hypoplasia of the maxilla, Camptodact... ORPHA:1529
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... ORPHA:1209
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormality of the vertebral column, Hydrocephalus, Sensorineural hearing impairment, Abnormal au... OMIM:109120
Emanuel Syndrome
Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Long philtrum, Tooth malp... ORPHA:96170
Jackson-Weiss Syndrome
Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Mandibular prognathia, Broad me... ORPHA:1540
Andersen-Tawil Syndrome
Clinodactyly of the 5th toe, Prolonged QT interval, Polymorphic ventricular tachycardia, Prominen... ORPHA:37553
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Sandal gap, Cleft soft palate, Prominent fingertip pads, Low-set ears, Camptodact... OMIM:618529
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Midgut mal... ORPHA:2326
Rubinstein-Taybi Syndrome 1
Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Pro... OMIM:180849
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Abnormal form of the vertebral bodies, Osteolysis involving bones of the lower limbs, Broad clavi... ORPHA:371428
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Retrognathia, Microphthalmia, Sensorineural hearing impairment, Tibial bowing, Delay... OMIM:601812
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Scol... OMIM:118100
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Scoliosis, Thoracic kyphosis, Micrognathia, Hip dysplasia, Mild postnat... ORPHA:530983
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Microphthalmia, Fused cervical vertebrae, Optic nerve hypoplasia, Paten... OMIM:609053
Keipert Syndrome
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Sensorineural heari... ORPHA:2662
Mesoaxial Hexadactyly And Cardiac Malformation
Everted lower lip vermilion, Pulmonic stenosis, Hand polydactyly, Patent ductus arteriosus, Atria... OMIM:249670
Bardet-Biedl Syndrome 14
Polydactyly, Renal insufficiency OMIM:615991
Codas Syndrome
Proximal placement of thumb, Sensorineural hearing impairment, Delayed ossification of carpal bon... OMIM:600373
Charge Syndrome
Delayed puberty, Microphthalmia, Mixed hearing impairment, Sensorineural hearing impairment, Micr... OMIM:214800
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Disproportionate short-limb short stature, Relative... OMIM:156530
Neu-Laxova Syndrome 2
Rocker bottom foot, Polyhydramnios, Finger syndactyly, Scoliosis, High palate, Low-set ears, Spin... OMIM:616038
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Urinary incontinence, Genu valgum, Short philtrum, Accessory oral frenulum,... OMIM:617927
Cleidocranial Dysplasia
Chronic otitis media, Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis m... ORPHA:1452
Velocardiofacial Syndrome
Abnormality of the hand, Right aortic arch with mirror image branching, Interrupted aortic arch, ... OMIM:192430
Acropectorovertebral Dysplasia
High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car... ORPHA:957
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Pectus excavatum, Intestinal malrotation, Arachnodactyly, Abnormal duodenum morphology, Mitral va... OMIM:601776
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Osteoglophonic Dysplasia
Eruption failure, Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Severe short... OMIM:166250
7Q31 Microdeletion Syndrome
Postnatal growth retardation, Childhood onset sensorineural hearing impairment, Clinodactyly of t... ORPHA:251061
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Bilateral single transverse palmar creases, Kyphoscoliosis, Multiple carpal ossification centers,... OMIM:143095
Limb Body Wall Complex
Congenital diaphragmatic hernia, Aplasia/hypoplasia involving bones of the upper limbs, Anencepha... ORPHA:2369
Neonatal Marfan Syndrome
Lipoatrophy, Pectus carinatum, Enlarged thorax, Arachnodactyly, Mitral valve prolapse, Heart murm... ORPHA:284979
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Gastroschisis, Anencephaly, Ectopic anus, Spina bifida, Cleft palate, Aplasia/Hypoplasia of the r... ORPHA:2476
Fibrochondrogenesis
Abnormal metaphysis morphology, Hearing abnormality, Abnormal diaphysis morphology, Bell-shaped t... ORPHA:2021
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Scoliosis, Anal atresia, Short stature, Short middle phalanx of finger,... ORPHA:1436
Miller-Dieker Lissencephaly Syndrome
Abnormal heart morphology, Recurrent aspiration pneumonia, Decreased fetal movement, Intrauterine... OMIM:247200
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the maxilla, Cone-shap... ORPHA:397973
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Low-set ears, Short stature, Hea... OMIM:617159
Bardet-Biedl Syndrome 5
Polydactyly, Micropenis, Syndactyly, Brachydactyly OMIM:615983
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hydrops fetalis, Abnormal cortical bone morphology, Polyhydramnios, Increased bone mineral densit... ORPHA:2204
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Dislocated radial head, Mandibular condyle hypoplasia, Deformed humerus, Micrognathia, Hypoplasia... ORPHA:2975
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Protruding ear, Cubitus valgus, Mandibular prognathia, High palate, Furrowed tongue, Pectus excav... OMIM:300534
Fryns Syndrome
Abnormal aortic arch morphology, Intestinal malrotation, Wide mouth, Long philtrum, Short distal ... ORPHA:2059
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Hyperlordosis, Kyphosis, Aortic valve stenosis, Joint stiffness, Constricted... OMIM:253010
Saethre-Chotzen Syndrome
Bilateral single transverse palmar creases, Abnormal form of the vertebral bodies, Sensorineural ... ORPHA:794
Cartilage-Hair Hypoplasia
Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Disproportio... ORPHA:175
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Pfeiffer Syndrome
3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Finger syndactyl... OMIM:101600
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal metaphysis morphology, Abnormal vertebral morphology, Hyperostosis, Arthritis, Scoliosis... ORPHA:324964
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Cardiomyopathy, Nephropathy, Atrial septal... ORPHA:1909
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Retrognathia,... ORPHA:2756
Blomstrand Lethal Chondrodysplasia
Broad clavicles, Short ribs, Short metacarpal, Accelerated skeletal maturation, Mesomelia, Premat... ORPHA:50945
Hallermann-Streiff Syndrome
Microphthalmia, Hyperlordosis, Hypertension, Pectus excavatum, Joint hypermobility, Telangiectasi... OMIM:234100
Congenital Heart Block
Bradycardia, Premature birth, Intrauterine growth retardation, Oligohydramnios, Vaginal birth aft... ORPHA:60041
Nevus Comedonicus Syndrome
Preaxial polydactyly, Abnormal vertebral morphology, Spina bifida occulta, Finger syndactyly, Sco... ORPHA:64754
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Abnormal tibia morphology, Anencephaly, Encephalocele, Hydroceph... ORPHA:1335
3Mc Syndrome 1
Short 5th finger, Sacral dimple, Single interphalangeal crease of fifth finger, Hearing impairmen... OMIM:257920
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Reduced bone mineral density, Proximal placement of thumb, Abnor... ORPHA:1488
Crouzon Syndrome
Narrow palate, Hydrocephalus, Multiple suture craniosynostosis, Hypoplasia of the maxilla, Hearin... ORPHA:207
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, High palate, Pectus excavatum, Low-set ears, Broad thumb... OMIM:309520
Ring Chromosome 21 Syndrome
Azoospermia, Scoliosis, Narrow palm, Short stature, Abnormal heart morphology, Holoprosencephaly,... ORPHA:1445
Pseudoaminopterin Syndrome
Orofacial cleft, Clinodactyly of the 5th toe, Limited elbow movement, Short 4th metacarpal, Hip s... ORPHA:221120
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased fetal movement, Abnormal cortical bone morphology, Hydrocephalus, Wide anterior fontane... OMIM:614886
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Madelung deformity, Right aortic arch, Enuresis no... OMIM:301111
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Cleft palate, Tetralogy of Fallot, ... ORPHA:1727
Melorheostosis
Increased bone mineral density, Arthritis, Hyperostosis, Lymphedema, Bone pain, Ectopic ossificat... ORPHA:2485
Mandibulofacial Dysostosis With Alopecia
Protruding ear, Stenosis of the external auditory canal, Microtia, Glossoptosis, Low-set ears, Hy... OMIM:616367
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate... OMIM:268310
Down Syndrome
Sandal gap, Hypoplastic iliac wing, Microtia, Abnormal fetal nasal bone visualization, Joint hype... OMIM:190685
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Polyhydramnios, Upper limb undergrowth, Nonimmune hydrops fetalis, Thoracic hypo... OMIM:613124
Phaver Syndrome
Abnormal form of the vertebral bodies, Myelomeningocele, Broad thumb, Joint stiffness, Intrauteri... ORPHA:2876
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Protruding ear, Hydrocephalus OMIM:618302
Carpenter Syndrome
Polydactyly, Genu valgum, Talipes equinovarus, Finger syndactyly, Postaxial hand polydactyly, Bro... ORPHA:65759
Alagille Syndrome 2
Cholestatic liver disease, Hematuria, Renal tubular acidosis, Renal insufficiency, Cholestasis, R... OMIM:610205
Yunis-Varon Syndrome
Rocker bottom foot, Microphthalmia, Absent sternal ossification, Abnormal finger morphology, Shor... ORPHA:3472
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Trisomy 20P
Reduced bone mineral density, Abnormal hip bone morphology, Abnormal form of the vertebral bodies... ORPHA:261318
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Orbital encephalocele, Congenital hip dislocation, Cleft palate, Ab... OMIM:164180
Prune Belly Syndrome
Intestinal malrotation, Congenital posterior urethral valve, Abnormality of the bladder, Urogenit... ORPHA:2970
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Ectopic o... OMIM:135100
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Retrognathia, Slender long bone, Thin ribs, Short stature, Decreased calvarial ossification, Micr... OMIM:618265
Neu-Laxova Syndrome 1
Rocker bottom foot, Microphthalmia, Radial deviation of finger, Decreased fetal movement, Intraut... OMIM:256520
Frontometaphyseal Dysplasia 2
Delayed puberty, Dislocated radial head, Sensorineural hearing impairment, Abnormal pinna morphol... OMIM:617137
Igg4-Related Aortitis
Intestinal obstruction, Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubu... ORPHA:449400
Teebi Hypertelorism Syndrome 1
Single umbilical artery, Omphalocele, Coronal craniosynostosis, Short stature, Micrognathia, Nata... OMIM:145420
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Limited elbow movement, Retrognathia, Kyphoscoliosis, Ventricular hypert... OMIM:300280
8Q22.1 Microdeletion Syndrome
Sandal gap, Finger syndactyly, Abnormal antihelix morphology, Abnormal pinna morphology, Low-set ... ORPHA:178303
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Widening of cervical spinal canal, Fusion of midcervical facet joints, Cardiomyopathy, Global sys... OMIM:606842
Gm1 Gangliosidosis Type 1
Pectus carinatum, Short long bone, Cardiomyopathy, Flared iliac wing, Hypoplastic vertebral bodie... ORPHA:79255
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Congenital hip dislocation, Growth delay, Delayed skeletal maturation,... OMIM:614450
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Wide anterior fontanel, Sensorineural hearing impairment, Low-se... OMIM:222448
Cerebrofacioarticular Syndrome
Osteopenia, Caudal appendage, Anal stenosis, Tracheomalacia, Microtia, Lymphedema, Camptodactyly,... ORPHA:314679
Alg9-Cdg
Narrow greater sciatic notch, Abnormal bone ossification, Short long bone, Bifid uvula, Abnormal ... ORPHA:79328
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Short long bone, Hyperlordosis, Accelerated skeletal maturation, Flattened epiphy... OMIM:618363
Kbg Syndrome
Finger clinodactyly, Single transverse palmar crease, Scoliosis, Thoracic kyphosis, Bilateral con... ORPHA:2332
Mucopolysaccharidosis Type 7
Diaphyseal undertubulation, Anterior beaking of lumbar vertebrae, Hydrops fetalis, Abnormal hip b... ORPHA:584
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Proximal placement of thumb, Renal cyst, Anal atresia, Abnormal heart m... OMIM:613390
Geroderma Osteodysplasticum
Kyphoscoliosis, Beaking of vertebral bodies, Osteopenia, Recurrent lower respiratory tract infect... OMIM:231070
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Delayed skeletal maturation, Congenital sensorineural hearing im... OMIM:157800
Jawad Syndrome
Retrognathia, Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th fing... OMIM:251255
Absence Of The Pulmonary Artery
Pulmonary edema, Atrial septal defect, Cardiomegaly, Right aortic arch, Truncus arteriosus, Abnor... ORPHA:980
You-Hoover-Fong Syndrome
Double aortic arch, Coarctation of aorta, Vascular ring, Cleft palate, Brachydactyly, Accessory o... OMIM:616954
Meckel Syndrome
Situs inversus totalis, Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Pos... ORPHA:564
Fliedner-Zweier Syndrome
Long philtrum, Unilateral renal agenesis, Hypoplastic aortic arch, High palate, Tracheoesophageal... OMIM:620511
Pallister-Hall Syndrome
Microphthalmia, Mesoaxial polydactyly, Microtia, Oligodactyly, Broad thumb, Bifid uvula, Umbilica... ORPHA:672
Meckel Syndrome, Type 3
Polydactyly, Hepatomegaly, Postaxial hand polydactyly, Bile duct proliferation, Cleft palate, Hep... OMIM:607361
22Q11.2 Deletion Syndrome
Chronic otitis media, Microphthalmia, Gastrointestinal hemorrhage, Corneal neovascularization, Sm... ORPHA:567
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Preaxial polydactyly, Hydrops fetalis, Polyhydramnios, Anencepha... OMIM:616546
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Anophthalmia, Aplasia/Hypoplasia of the earlobes, Bilateral cl... ORPHA:1104
Oculodentodigital Dysplasia, Autosomal Recessive
2-4 toe cutaneous syndactyly, Hypoplasia of the primary teeth, Microphthalmia, Delayed eruption o... OMIM:257850
Distal 22Q11.2 Microduplication Syndrome
Palpebral edema, Sacral dimple, Hydrocephalus, Scoliosis, Abnormal helix morphology, Patent ductu... ORPHA:261337
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Low-set, posteriorly rotated ears, Pectoral muscle hypoplasia/aplasia, Hypoplasia... ORPHA:306542
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Cleft palate, A... OMIM:618469
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Unilateral renal agenesis, Ventricular septal defect, High palate, Bilatera... OMIM:618142
Fetal Akinesia Deformation Sequence 1
Rocker bottom foot, Wrist flexion contracture, Premature birth, Nonimmune hydrops fetalis, Thorac... OMIM:208150
Camurati-Engelmann Disease
Delayed puberty, Abnormal femur morphology, Hyperlordosis, Kyphosis, Craniofacial osteosclerosis,... ORPHA:1328
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Myelo... ORPHA:66637
Acrorenal Syndrome
Renal hypoplasia/aplasia, Abnormal tibia morphology, Abnormal renal morphology, Split hand, Cleft... ORPHA:971
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli... OMIM:183600
Robinow Syndrome, Autosomal Dominant 3
Kyphosis, Broad thumb, Mesomelia, Syndactyly, Hypoplastic right heart, Clinodactyly, Sacral dimpl... OMIM:616894
Simpson-Golabi-Behmel Syndrome
Congenital diaphragmatic hernia, Prolonged QT interval, Cardiomyopathy, Pectus excavatum, Broad t... ORPHA:373
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac... DECIPHER:46
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal... ORPHA:2248
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Postnatal growth retardation, Large placenta, Polyhydramnios, Diastasis recti, Omphalocele, Coat ... ORPHA:254534
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Biliary atresia, Microcolon, Pulmonic stenosis, Intestinal malrotation, Per... OMIM:600001
Monosomy 5P
Low-set, posteriorly rotated ears, Joint hypermobility, Inguinal hernia, Finger syndactyly, Abnor... ORPHA:281
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Wide anterior fontanel, Sensorineural hearing impairment, Omphal... ORPHA:2143
Nail-Patella Syndrome
Microphakia, Sensorineural hearing impairment, Pectus excavatum, Patellar dislocation, Disproport... OMIM:161200
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Thin vermilion border, Clinodactyly of the 5th finger, Shoulder flexion contr... OMIM:619110
Spondylospinal Thoracic Dysostosis
Multiple pterygia, Short thorax, Hypoplasia of the maxilla, Micrognathia, Pulmonary hypoplasia, A... OMIM:601809
Say Syndrome
Tapered finger, Cleft palate, Proximal renal tubular acidosis, Short distal phalanx of finger, Ul... OMIM:181180
Chromosome 16P13.3 Duplication Syndrome
Rocker bottom foot, Proximal placement of thumb, Sandal gap, Tracheobronchomalacia, Microtia, Pec... OMIM:613458
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic... ORPHA:1457
Neu-Laxova Syndrome
Retrognathia, Bifid uvula, Decreased fetal movement, Intrauterine growth retardation, Rickets, Pt... ORPHA:2671
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Finger aplasia OMIM:172880
Autosomal Recessive Spondylocostal Dysostosis
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Kyphosis, Umbilical herni... ORPHA:2311
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Intestinal malrotation, ... ORPHA:3032
Congenital Syphilis
Myocarditis, Osteochondrosis, Purpura, Large placenta, Periostitis, Hydrops fetalis, Pneumonia, P... ORPHA:499009
Bardet-Biedl Syndrome 17
Polydactyly, Polyuria, Situs inversus totalis, Dextrocardia, Mesoaxial polydactyly, Postaxial han... OMIM:615994
Phocomelia, Schinzel Type
Aplasia/Hypoplasia involving the pelvis, Tracheoesophageal fistula, Intrauterine growth retardati... ORPHA:2879
Feingold Syndrome Type 1
Abnormal heart morphology, Abnormality of the kidney, Tricuspid atresia, Multiple muscular ventri... ORPHA:391641
Meckel Syndrome, Type 2
Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly,... OMIM:603194
Meier-Gorlin Syndrome 4
Lateral clavicle hook, Emphysema, Slender long bone, Genu recurvatum, Microtia, Low-set ears, Hyp... OMIM:613804
Orofaciodigital Syndrome Viii
Polydactyly, High palate, Cleft palate, Recurrent aspiration pneumonia, Syndactyly, Short tibia, ... OMIM:300484
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Abnormal aortic arch morphology, Abnormal hip bone morphology, Narrow... ORPHA:1110
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Cervical myelopathy, Hypoplastic iliac wing, Pectus carinatum, Sinus tachycardia,... OMIM:253200
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Thin vermilion border, Abnormal metaphysis morphology, Abnormal hip bone ... ORPHA:2631
Fanconi Anemia
Microphthalmia, Abnormal femur morphology, Reduced bone mineral density, Meckel diverticulum, Abn... ORPHA:84
Holoprosencephaly
Congenital diaphragmatic hernia, Spinal cord tumor, Microphthalmia, Abnormal form of the vertebra... ORPHA:2162
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis OMIM:614416
Polysyndactyly With Cardiac Malformation
Renal cyst, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly, Hepatic cyst... OMIM:263630
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Tetr... ORPHA:261243
Mosaic Trisomy 14
Bilateral single transverse palmar creases, Low-set, posteriorly rotated ears, Narrow chest, Ecto... ORPHA:1703
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Anal atresia, Hypoplasia of the maxilla, Macrotia, Short stature ORPHA:93950
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Retrognathia, Pulmonary artery aneurysm, Bradycardia, Abnormal p... OMIM:614437
Developmental And Speech Delay Due To Sox5 Deficiency
Narrow palate, Butterfly vertebrae, Pectus carinatum, 2-3 toe syndactyly, Thoracic kyphoscoliosis... ORPHA:313892
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Genu recurvatum, Limitation of... OMIM:151200
Meckel Syndrome, Type 5
Postaxial hand polydactyly, Bowing of the long bones, Renal cyst, Bile duct proliferation, Cleft ... OMIM:611561
Distal Deletion 15Q
Abnormal aortic arch morphology, Double outlet right ventricle with doubly committed ventricular ... ORPHA:1596
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Fused cervical vertebrae, Scoliosis, Anal atresia, Prominent metopic ridge, Short stature, Short ... OMIM:309620
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Abnormal antihelix morphology, Microtia, Split hand, Abnormal rib morphology, ... ORPHA:2145
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... ORPHA:3104
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Renal cyst, Dilatation of the cerebral artery OMIM:174050
Mucolipidosis Type Iii
Abnormal aortic valve morphology, Hearing abnormality, Abnormal hip bone morphology, Craniofacial... ORPHA:577
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplication, Hip dislocation OMIM:223200
Classical Ehlers-Danlos Syndrome
Dislocated radial head, Cigarette-paper scars, Premature birth, Bruising susceptibility, Mitral v... ORPHA:287
Stickler Syndrome
Chronic otitis media, Reduced bone mineral density, Spondylolisthesis, Abnormal form of the verte... ORPHA:828
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Upper limb undergrowth, Omphalocele, Lower limb undergrowth, Tet... OMIM:613630
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Congestive heart failure, Hydrops fetalis, Inguinal hernia, Abnormal... OMIM:230500
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Pectus carinatum, Hyperlordosis, Kyphosis, Delayed skeletal maturat... ORPHA:582
Charge Syndrome
Delayed puberty, Microphthalmia, Abnormal pinna morphology, Microtia, Tracheoesophageal fistula, ... ORPHA:138
Frank-Ter Haar Syndrome
Beaking of vertebral bodies, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Avas... ORPHA:137834
Congenital Myopathy 22B, Severe Fetal
Retrognathia, Spinal rigidity, Breech presentation, Pectus excavatum, Ascites, Nonimmune hydrops ... OMIM:620369
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Axenfeld-Rieger Syndrome, Type 2
Anal stenosis, Inguinal hernia, Hydrocephalus, Mandibular prognathia, Hypoplasia of the maxilla, ... OMIM:601499
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Spondylolisthesis, Pectus carinatum, Craniosynostosis, Cervical spinal canal stenosis, Tarsal syn... OMIM:178110
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the earlobes... ORPHA:3082
Meckel Syndrome, Type 10
Hypospadias, Postaxial hand polydactyly, Renal cyst, Camptodactyly, Postaxial polydactyly, Cleft ... OMIM:614175
Miller-Dieker Syndrome
Sacral dimple, Polyhydramnios, Clinodactyly of the 5th finger, Omphalocele, Growth delay ORPHA:531
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Low-set ears, Camptodactyly, Short stature, Growth delay, Intrau... OMIM:617333
Peters-Plus Syndrome
Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Disproportionate short-l... OMIM:261540
Iniencephaly