Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
dishevelled segment polarity protein 2
Synonyms:
N/A

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Dvl2 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 Dvl2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Situs inversus totalis, Dextrocardia, Spina bifida occulta,... OMIM:613686
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Short thorax, Anomalous origin of left coronary artery from the pulmonary artery, ... OMIM:618845
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Narrow chest, Abnormal form ... ORPHA:1354
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Cyanosis, ... ORPHA:1209
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Poland Syndrome
Dextrocardia, Short ribs, Hemivertebrae, Unilateral oligodactyly, Sprengel anomaly, Syndactyly, R... OMIM:173800
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Pectus excavatum, Arachnodactyly, Coarctation of aorta, Hand... ORPHA:261243
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno... ORPHA:1797
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod... ORPHA:2311
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Stillbirth, Abnormal hip bone morphology, Abnormality of the vertebral column, Conge... ORPHA:294975
Intellectual Developmental Disorder, Autosomal Dominant 66
Transposition of the great arteries, Clinodactyly of the 5th finger, Aortic root aneurysm, Pectus... OMIM:619910
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Becker Nevus Syndrome
Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K... ORPHA:64755
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Clinodactyly of th... OMIM:617877
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Polydactyly, Short 4th metacarpal, Cardiac rhabdomyoma, Short distal phalanx of t... OMIM:109400
Eng-Strom Syndrome
Scoliosis, Pectus excavatum, Camptodactyly of finger, Brachydactyly, Ventricular septal defect, A... ORPHA:1937
Pyknoachondrogenesis
Stillbirth OMIM:265880
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Hydrocephalus, Scoliosis, Hemivertebrae, Abnorm... ORPHA:377
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Truncus arteriosus, Ventricular septal defect, Hydranencephaly OMIM:601355
Femoral-Facial Syndrome
Abnormal fibula morphology, Scoliosis, Vertebral segmentation defect, Abnormal pelvic girdle bone... ORPHA:1988
Diabetic Embryopathy
Transposition of the great arteries, Hydrocephalus, Vertebral segmentation defect, Abnormal aorti... ORPHA:1926
Verheij Syndrome
Scoliosis, Hemivertebrae, Truncus arteriosus, Short 5th finger, Clinodactyly, Short neck, Ventric... OMIM:615583
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Abnormal vertebral morphology, Transposition of the great arteries, Atrioventricul... OMIM:314390
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Hemivertebrae, Missing ribs, Aortic valve stenosis, Pulmonic stenosis, Tetralogy o... OMIM:220210
Holt-Oram Syndrome
Pectus excavatum, Kyphosis, Broad thumb, Absent thumb, Abnormal clavicle morphology, Abnormal met... ORPHA:392
Cerebrofaciothoracic Dysplasia
Bifid ribs, Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Sprengel anoma... ORPHA:1394
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Coarctation of ao... OMIM:217095
Fetal Trimethadione Syndrome
Transposition of the great arteries, Scoliosis, Tetralogy of Fallot, Atrial septal defect, Ventri... ORPHA:1913
Criss-Cross Heart
Transposition of the great arteries, Cyanosis, Tricuspid stenosis, Pulmonic stenosis, Abnormal mi... ORPHA:1461
Carpenter Syndrome 1
Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Umbilica... OMIM:201000
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal thumb morphology, Atrioventricular canal defect, Abnormal aortic valve morphology, Proxi... ORPHA:1120
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Cyanosis, Abnormal a... ORPHA:860
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Heterotaxy, Visceral, 1, X-Linked
Short long bone, Myelomeningocele, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right ... OMIM:306955
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Short distal phalanx of finger, Short neck, Ventr... ORPHA:2516
Recombinant Chromosome 8 Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus excavatum, Camptodactyly, Pulmonic stenosis, Te... OMIM:179613
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Metatropic Dysplasia
Kyphoscoliosis, Narrow greater sciatic notch, Relatively short spine, Short ribs, Long coccyx, Cu... OMIM:156530
8P23.1 Microdeletion Syndrome
Transposition of the great arteries, Atrioventricular canal defect, Proximal placement of thumb, ... ORPHA:251071
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus, Syndactyly OMIM:215850
Phaver Syndrome
Butterfly vertebrae, Triphalangeal thumb, Hypoplastic aortic arch, Abnormal form of the vertebral... ORPHA:2876
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Sacral dimple, Bifid ribs, Narrow chest, Hyperextensibility of the f... OMIM:213980
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Sprengel anomaly, R... OMIM:184400
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Truncus arteriosus, Pulmonary artery atresia, Abnormal heart morphology, ... ORPHA:401935
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus excavatum, Radial deviation of the 2nd finger, ... ORPHA:1388
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Myelo... ORPHA:66637
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Scimitar Syndrome
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... ORPHA:185
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Pectus excavatum, Broad thumb, Bicuspid aortic valve, Short 5th finger, Overlapping toe, Hip disl... ORPHA:508498
Nemaline Myopathy 9
Scoliosis, Ventricular septal defect, Narrow chest OMIM:615731
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Perching Syndrome
Scoliosis, Cyanosis, Camptodactyly OMIM:617055
Emanuel Syndrome
Kyphoscoliosis, Sacral dimple, Hydrocephalus, Scoliosis, Truncus arteriosus, Congenital hip dislo... ORPHA:96170
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Absent vertebra, Syndactyly, E... OMIM:134780
Vater/Vacterl Association
Occipital encephalocele, Hypoplasia of the radius, Abnormal vertebral morphology, Transposition o... OMIM:192350
Adams-Oliver Syndrome 6
Truncus arteriosus, Cutis marmorata, Foot oligodactyly, Syndactyly, Brachydactyly, Ventricular se... OMIM:616589
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Scoliosis, Tetralogy of Fallot, Ven... ORPHA:1727
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Long toe, Scoliosis, Patent foramen ovale, Pulmonary artery atresia, Pect... OMIM:618316
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De... OMIM:617405
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the ... ORPHA:2790
Aicardi Syndrome
Butterfly vertebrae, Proximal placement of thumb, Scoliosis, Hemivertebrae, Missing ribs, Spina b... OMIM:304050
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Proximal placement of thumb, Narrow... ORPHA:93267
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Cyanosis, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Deat... OMIM:617478
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Butterfly vertebrae, Vertebral segmentation defect, Short long bone, Shallow acet... OMIM:611209
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Abnormal aortic valve morphology, Dextrocardia, Scoliosis, Hand po... ORPHA:261197
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Emanuel Syndrome
Sacral dimple, Hydrocephalus, Scoliosis, Truncus arteriosus, Kyphosis, Congenital hip dislocation... OMIM:609029
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Septopreoptic Holoprosencephaly
Ethmoidal encephalocele, Coarctation of aorta, Abnormal vertebral morphology, Abnormal rib morpho... ORPHA:280195
Stankiewicz-Isidor Syndrome
Sacral dimple, 2-3 toe syndactyly, Truncus arteriosus, Absent thumb, Short thumb, Patent ductus a... OMIM:617516
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Beaking of vertebral bodies, Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges... OMIM:609616
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Sandal gap, Pectus carinatum, Pectus excavatum, Kyphosis, Death in ... ORPHA:1507
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Short neck, Patent foramen ovale, Transposition of the great arteries, Clinodactyly OMIM:616789
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Sacral dimple, Scoliosis, Dextrotransposition of the great arteries, Brachydactyly, Ventricular s... OMIM:619995
Double Outlet Right Ventricle
Cyanosis, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta, ... ORPHA:3426
White Forelock With Malformations
Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Abnormal rib morphology,... ORPHA:2475
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Bullous Dystrophy, Hereditary Macular Type
Short finger, Death in childhood, Tapered finger, Acrocyanosis OMIM:302000
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Isolated Hemihyperplasia
Scoliosis, Myelomeningocele, Asymmetry of the thorax ORPHA:2128
Ververi-Brady Syndrome
Scoliosis, Transposition of the great arteries, Clinodactyly of the 5th finger, Metaphyseal irreg... OMIM:617982
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Aplasia/Hypopl... ORPHA:1686
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Irregular chondrocostal juncti... OMIM:187760
Aicardi Syndrome
Butterfly vertebrae, Bifid ribs, Scoliosis, Missing ribs, Rib fusion, Supernumerary ribs, Block v... ORPHA:50
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Coxa valg... OMIM:253000
Meacham Syndrome
Stillbirth, Death in childhood, Transposition of the great arteries, Dextrocardia, Cardiac total ... OMIM:608978
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal aortic valve morphology, Spina bifida occulta, Aortic aneurysm, Finger syndactyly, Abnor... ORPHA:2990
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Right Atrial Isomerism
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... OMIM:208530
Thakker-Donnai Syndrome
Transposition of the great arteries, Cervical C2/C3 vertebral fusion, Hemivertebrae, Communicatin... ORPHA:1780
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology ORPHA:276422
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Spinal rigidity, Transposition of the great arteries, Encephalocele, Hydroc... OMIM:253800
Noonan Syndrome 12
11 pairs of ribs, Proximal placement of thumb, Pectus excavatum, Spinal canal stenosis, Tetralogy... OMIM:618624
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Absent middle phalanx of the 3rd toe, Aplasia of the... OMIM:615297
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Spondylometaphyseal Dysplasia, Axial
Narrow greater sciatic notch, Narrow chest, Scoliosis, Coxa vara, Anterior rib cupping, Thoracic ... OMIM:602271
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
Heart Defects, Congenital, And Other Congenital Anomalies
Cervical ribs, Perimembranous ventricular septal defect, Transposition of the great arteries, Dou... OMIM:600001
Acrocardiofacial Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Hallux valgus, Truncus arteriosus, Split hand,... ORPHA:2008
Pallister-Hall Syndrome
Oligodactyly, Shortening of all distal phalanges of the fingers, Syndactyly, Hip dislocation, Sho... OMIM:146510
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Carpal osteolysis, Abnormal form of the vertebral bodies, Osteolysis involving bones of the lower... ORPHA:371428
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Hemivertebrae, Short ribs, Thin ribs, Missing ribs, Block vertebrae, Rib fusion, Short... OMIM:271520
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Sprengel anomaly, Short nec... OMIM:214300
1P36 Deletion Syndrome
Bifid ribs, Clinodactyly of the 5th finger, 11 pairs of ribs, Abnormal heart valve morphology, Sc... ORPHA:1606
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Hydrocephalus, Abnormal atrial arran... ORPHA:244
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of fingers, 2-3 toe syndactyly, Pulmonic stenosis, Tetralogy of Fallot, Clubbing of toes... ORPHA:3304
Desbuquois Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal femoral neck/head morpho... ORPHA:1425
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Dextrocardia, Meningocele, Missing ribs, Camptodactyly of fi... ORPHA:1759
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal form of the vertebral bodies, Hydrocephalus, Cutaneous photosensitivity, Sco... ORPHA:2180
Cooper-Jabs Syndrome
Proximal placement of thumb, Abnormal hip bone morphology, Scoliosis, Abnormal rib morphology, Mi... ORPHA:1488
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing, Small epiphyses, Square... OMIM:608728
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Rib fusion, Supernumerary... OMIM:206900
Schneckenbecken Dysplasia
Metaphyseal irregularity, Stillbirth, Lateral clavicle hook, Narrow chest, Snail-like ilia, Short... OMIM:269250
Jeune Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Narrow chest, Short thorax, Abnorma... ORPHA:474
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short ribs, Short long bone, Cup... OMIM:614524
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Distal 22Q11.2 Microdeletion Syndrome
Clinodactyly of the 5th finger, Sandal gap, Aortic aneurysm, Truncus arteriosus, Hyperlordosis, B... ORPHA:261330
Neuralgic Amyotrophy
Sprengel anomaly, Scapular winging, Syndactyly, Acrocyanosis ORPHA:2901
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Short 5th finger, Hydrocephalus, Scoliosis, Patent foramen ovale, Camptoda... OMIM:607872
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Short metatarsal, Upp... OMIM:271650
Chondrodysplasia, Blomstrand Type
Stillbirth, Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Short ribs, Preductal... OMIM:215045
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Multiple Pterygium Syndrome, Escobar Variant
Anterior clefting of vertebral bodies, Rocker bottom foot, Long clavicles, Fused cervical vertebr... OMIM:265000
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Dumbbell-shaped hu... ORPHA:1836
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Pectus carinatum, Pectus excavatum, Cervical ribs, Short ne... OMIM:609654
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Genu valgum, Scoliosis, Hyperlordosis, Prominent sternum, Kyphosis, Aortic v... OMIM:253010
Prune Belly Syndrome
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h... ORPHA:2970
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Short palm, Flared, irregular rib ends, Coxa vara ORPHA:168555
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Radial deviation of finger, Dislocated radial head, Pectus excavatum, Broad t... OMIM:268310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Intellectual Developmental Disorder, Autosomal Recessive 73
Scoliosis, Ventricular septal defect, Clinodactyly of the 5th finger, Patent ductus arteriosus OMIM:619717
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Pontine Tegmental Cap Dysplasia
Scoliosis, Hemivertebrae, Rib fusion OMIM:614688
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal... OMIM:619657
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos... OMIM:619698
Robinow Syndrome
Kyphoscoliosis, Fused thoracic vertebrae, Pulmonary valve atresia, Tricuspid atresia, Scoliosis, ... ORPHA:97360
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, H... ORPHA:2839
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... OMIM:620570
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Osteogenesis Imperfecta, Type Ix
Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Short lower limbs, Platyspondyly, Multip... OMIM:259440
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Epiphyseal stippling, Ventricular septal defect, Death in infancy OMIM:614876
Renal-Hepatic-Pancreatic Dysplasia 2
Stillbirth, Situs inversus totalis, Truncus arteriosus, Femoral bowing, Hypertrophic cardiomyopat... OMIM:615415
Mucopolysaccharidosis Type 4
Abnormal metaphysis morphology, Genu valgum, Short thorax, Abnormal heart valve morphology, Scoli... ORPHA:582
Diastrophic Dysplasia
Abnormal metaphysis morphology, Short finger, Abnormal clavicle morphology, Proximal placement of... ORPHA:628
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short ribs, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Hypoplastic ischia,... OMIM:151210
Nevus Comedonicus Syndrome
Preaxial polydactyly, Abnormal vertebral morphology, Spina bifida occulta, Finger syndactyly, Sco... ORPHA:64754
Cornelia De Lange Syndrome 6
Atrioventricular canal defect, Clinodactyly of the 5th finger, Pectus carinatum, Scoliosis, Pulmo... OMIM:620568
Weiss-Kruszka Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Dextrotransposition of the great art... OMIM:618619
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Cervical ribs, Transposition of the great arteries, Double outlet ... ORPHA:2255
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Hypoplastic left atrium, Truncus arteriosus, Pulmo... OMIM:601186
Thanatophoric Dysplasia, Type Ii
Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costochondral junctions... OMIM:187601
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Dilation of Virchow-Robin spaces, Clinodactyly of the 5th finger, Vas... ORPHA:544488
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Narrow chest, Co... ORPHA:2484
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Aortic Arch Interruption
Transposition of the great arteries, Cyanosis, Patent ductus arteriosus, Aortic valve atresia, Ao... ORPHA:2299
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Narrow chest, Short greater sciatic notch, Hydrocephalus, Flared metaph... OMIM:187600
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Narrow greater sciatic notch, Carpal bone hypoplasia, Cone-shaped epiphyses of th... OMIM:184252
Cog1-Cdg
Kyphoscoliosis, Butterfly vertebrae, Vertebral segmentation defect, Short long bone, Flat acetabu... ORPHA:263508
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Bell-shaped thorax, Hydranencephaly, Meningocele, Posterior rib g... ORPHA:1393
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Scoliosis, Sacral dimple, Ventricular septal defect OMIM:608227
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... ORPHA:239
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Pentalogy Of Cantrell
Abnormal tibia morphology, Anencephaly, Encephalocele, Hydrocephalus, Abnormal sternum morphology... ORPHA:1335
3M Syndrome
Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Increased vertebral h... ORPHA:2616
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal vertebral morphology, Hypoplastic pubic ramus, Abnormal form of the verte... ORPHA:280
8Q24.3 Microdeletion Syndrome
Rocker bottom foot, Pectus excavatum, Abnormal heart morphology, Cervical ribs, Short 5th finger,... ORPHA:508488
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Neu-Laxova Syndrome 1
Rocker bottom foot, Short umbilical cord, Stillbirth, Transposition of the great arteries, Small ... OMIM:256520
Frank-Ter Haar Syndrome
Kyphoscoliosis, Flared metaphysis, Broad clavicles, Patent foramen ovale, Short long bone, Bowing... OMIM:249420
Holt-Oram Syndrome
Abnormal coronary artery origin, Cervical C2/C3 vertebral fusion, Proximal placement of thumb, Pe... OMIM:142900
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordos... ORPHA:2522
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Posterior rib fusion, Dysplastic tricuspid valve, Bicuspid aortic valve, Misalignment of the pulm... OMIM:265380
Kbg Syndrome
Radial deviation of finger, Clinodactyly of the 5th finger, Thoracic kyphosis, Ulnar deviation of... OMIM:148050
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien... ORPHA:1330
Thoracic Outlet Syndrome
Varicose veins, Abnormal rib morphology ORPHA:97330
Chime Syndrome
Pulmonary valve atresia, Transposition of the great arteries, Aplasia/Hypoplasia of the phalanges... ORPHA:3474
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal... ORPHA:79345
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
Brachydactyly, Type B1
Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Hemivertebrae, Short ... OMIM:113000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Dislocated radial head, Scoliosis, Delayed ossifi... OMIM:618395
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Butterfly vertebrae, Genu valgum, Monkey wrench femoral neck, Clinodactyly of the 2nd finger, Sco... OMIM:618870
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Genu valgum, Bell-shaped thorax, Cone-shaped epiphyses of the phalanges of... OMIM:615630
Fliedner-Zweier Syndrome
Hypoplastic aortic arch, Meningocele, Scoliosis, Pectus excavatum, Kyphosis, Bicuspid aortic valv... OMIM:620511
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Lymphangiectasia, Intestinal
Prominent floating ribs, Stillbirth, Intestinal lymphangiectasia OMIM:152800
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Partial anomalous pulmonary venous return, Double inlet left ventr... OMIM:270100
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Fused cervical vertebrae, Tarsal synostosis, Hypoplastic aort... OMIM:157800
Cantú Syndrome
Abnormal metaphysis morphology, Cardiomegaly, Patent ductus arteriosus, Short hallux, Finger synd... ORPHA:1517
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal inferior vena cava morphology, Right aortic ar... ORPHA:980
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Hydrocephalus, Thin ribs, Hypoplas... OMIM:300863
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Vertebral segmentation defect, Abnormal rib morphology ORPHA:2578
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Abnormal hip bone morphology,... ORPHA:7
Achondrogenesis Type 1B
Narrow chest, Short thorax, Abnormal rib morphology, Umbilical hernia, Short neck, Short foot ORPHA:93298
Meacham Syndrome
Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous... ORPHA:3097
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Fused cervical vertebrae, Clinodactyly of the 5th finger, Tibial torsion, Finger... ORPHA:3320
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Angiokeratoma corporis diffusum, Abnormal heart valve morphology, Sc... OMIM:230500
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Hemivertebrae, Ky... OMIM:618223
Camptodactyly Syndrome, Guadalajara Type 1
Sacral dimple, Narrow chest, Abnormal form of the vertebral bodies, Pectus carinatum, Scapular wi... ORPHA:1327
Mosaic Trisomy 14
Camptodactyly of finger, Short neck, Narrow chest, Abnormal rib morphology ORPHA:1703
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Radial deviation of finger, Sandal gap, Pectus carinatum, Aortic valve stenosis, Syndactyly, Umbi... OMIM:618164
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormal vertebral morphology, Abnormal metacarpal morphology, Hammerto... ORPHA:2319
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Hypoplast... ORPHA:2476
Coenzyme Q10 Deficiency, Primary, 7
Scoliosis, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect, Hypo... OMIM:616276
Fountain Syndrome
Abnormal metacarpal morphology, Spina bifida occulta, Abnormal form of the vertebral bodies, Scol... ORPHA:3219
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Abnormal rib morphology, Hypoplastic left heart ORPHA:2772
Fetal Minoxidil Syndrome
Ventricular septal defect, Clinodactyly of the 5th finger, Umbilical hernia ORPHA:1918
Alagille Syndrome
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Spina bifida occulta, Butterfly vertebral... ORPHA:52
Poland Syndrome
Asymmetry of the thorax, Abnormal sternum morphology, Pectus carinatum, Short ribs, Kyphosis, Apl... ORPHA:2911
Feingold Syndrome Type 2
Short middle phalanx of finger, Short thumb, Brachydactyly, Toe syndactyly, Ventricular septal de... ORPHA:391646
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Arachnodactyly, Umbilical hernia, Abnormal thorax morphology, Tr... ORPHA:567
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Vertebral segmentation defect, Abnormal aortic morphology, Tetralog... ORPHA:1166
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Anencephaly, Hydrocephalus, Patent ductus ar... OMIM:313850
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Death in infancy,... ORPHA:163966
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Sandal gap, Aortic aneurysm, Patent foramen ovale, 2-3 toe syndactyly, Persistent left superior v... ORPHA:477817
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Pectus carinatum, Postaxial hand p... ORPHA:3082
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Butterfly vertebrae, Pulmonary artery atresia, Postaxial hand polydactyly, Pu... OMIM:301056
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Prominent fingertip pads, Pectus excavatum, Broad thumb, Short distal phalanx of finger, Overlapp... OMIM:612474
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Coat hanger sign of ribs, Abnormal heart morphology, Thoracic hypoplasia, Umbilic... ORPHA:254534
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Post... OMIM:617895
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Short greater sciatic notch, Pectus carinatum, Short ribs, Cardiomy... OMIM:312870
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, 11 pairs of ribs, Hydrocephalus, Hemivertebrae, Holoprosencephaly,... ORPHA:77298
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Genu varum, Metaphyseal cuppi... OMIM:250420
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Ulnar bowing, Pear-shaped vertebrae, Irregular sclerotic endplates, Metaphyseal ... OMIM:602111
Cardiofaciocutaneous Syndrome 3
Scoliosis, Pectus excavatum, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short neck, Atrial s... OMIM:615279
Feingold Syndrome 2
2-3 toe syndactyly, Short middle phalanx of the 5th finger, 3-4 toe syndactyly, Short thumb, Shor... OMIM:614326
Restrictive Dermopathy
Short umbilical cord, Large placenta, Transposition of the great arteries, Small placenta, Dextro... ORPHA:1662
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Spinal Muscular Atrophy, Type I
Atrial septal defect, Death in childhood, Ventricular septal defect OMIM:253300
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:2234
Joubert Syndrome 18
Kyphoscoliosis, Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polyd... OMIM:614815
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Hand polydactyly, Patent ductus arteriosus, Atrial septal defect, Ventricular ... OMIM:249670
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Transposition of the great a... OMIM:280000
Mucopolysaccharidosis, Type Iiia
Scoliosis, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Umbilical hernia, Thicke... OMIM:252900
Neural Tube Defects, Susceptibility To
Sacral dimple, Anencephaly, Spina bifida occulta, Hydrocephalus, Asymmetry of spinal facet joints... OMIM:182940
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Kyphosis, Hip dislocation, Sacral dimple, Hydrocephalus, S... OMIM:194190
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Pat... ORPHA:2519
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Pectus exc... ORPHA:957
Cartilage-Hair Hypoplasia
Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, P... ORPHA:175
Cole-Carpenter Syndrome
Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Scoli... ORPHA:2050
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Right aortic arch, Coarctation of aorta, Bifid sternum OMIM:140850
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Narrow chest, Flared metaphysis, Short ribs, Hypoplastic ilia, Hypop... ORPHA:2347
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasi... ORPHA:1908
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Abnormal fibula morphology, Tibial bowing, Bowing of the long bones, Abnorma... ORPHA:3035
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 5th finger, 11 pairs of ribs, Clinodactyly of the 2nd finger, Scoliosis, Narr... OMIM:620073
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Death in childhood, Pulmonary artery atresia, Left superior vena cava ... OMIM:613759
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Pectus carinatum, Scoliosis, Pectus excavatum, Camptodactyly, Arachnodactyl... OMIM:301039
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone ORPHA:1506
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Scoliosis, Holoprosencephaly, Foot oligodactyly, Short femur, Ventricular... OMIM:601357
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Short finger, Small epiphyses, Thin ribs, Thoracic kyphosis, Prominent sternum, F... OMIM:300232
Postsynaptic Congenital Myasthenic Syndromes
Scoliosis, Thoracic kyphoscoliosis, Cyanosis ORPHA:98913
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, Sprengel anomaly, Short neck... OMIM:118100
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Kyphosis, Postaxial polydactyly, Vascular ring, Thoracic scoliosis, Atrial septal ... OMIM:603387
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:1486
Achondrogenesis Type 1A
Narrow chest, Short thorax, Short foot, Short palm, Umbilical hernia, Short neck, Multiple rib fr... ORPHA:93299
Microgastria-Limb Reduction Defect Syndrome
Abnormal metacarpal morphology, Abnormal finger morphology, Truncus arteriosus, Oligodactyly, Ect... ORPHA:2538
Ulnar Hemimelia
Dislocated radial head, Congenital finger flexion contractures, Upper limb phocomelia, Contractur... ORPHA:93320
Otopalatodigital Syndrome Type 2
Myelomeningocele, Flared iliac wing, Abnormal cardiac septum morphology, Fibular aplasia, Tarsal ... ORPHA:90652
Zttk Syndrome
Cervical ribs, Scoliosis, Hemivertebrae, Kyphosis, Rib fusion, Patent ductus arteriosus, Atrial s... OMIM:617140
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Thin ribs, Scoliosis OMIM:615220
Isolated Dandy-Walker Malformation
Tetralogy of Fallot, Encephalocele ORPHA:217
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Stillbirth, Abnormal vertebral morphology, Radial club hand, Abnormality of ... OMIM:276950
Carpenter Syndrome 2
Pectus carinatum, Pectus excavatum, Broad thumb, Umbilical hernia, Transposition of the great art... OMIM:614976
Grant Syndrome
Narrow chest, Abnormal pelvic girdle bone morphology, Bowing of the long bones, Abnormal rib morp... ORPHA:2097
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Death in adolescence, Diaphyseal sclerosis OMIM:122860
Trisomy 13
Narrow chest, Scoliosis, Postaxial hand polydactyly, Abnormal pelvic girdle bone morphology, Kyph... ORPHA:3378
Contractural Arachnodactyly, Congenital
Kyphoscoliosis, Adducted thumb, Congenital kyphoscoliosis, Aortic root aneurysm, Pectus carinatum... OMIM:121050
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia, Cervical ribs ORPHA:66630
Tarp Syndrome
Rocker bottom foot, Finger syndactyly, Scoliosis, Pectus excavatum, Postaxial polydactyly, Short ... ORPHA:2886
Lethal Congenital Contracture Syndrome 10
Adducted thumb, Narrow chest, Femoral bowing, Short long bone, Thoracic scoliosis, Overriding aor... OMIM:617022
Baller-Gerold Syndrome
Carpal bone aplasia, Oligodactyly, Abnormal heart morphology, Absent thumb, Short humerus, Absent... OMIM:218600
Hemihyperplasia, Isolated
Scoliosis, Myelomeningocele OMIM:235000
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Butterfly vertebrae, Alobar holoprosencephaly, Patent foramen ovale,... OMIM:301043
Down Syndrome
Atrioventricular canal defect, Partial anomalous pulmonary venous return, Sandal gap, Hypoplastic... OMIM:190685
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal ri... ORPHA:2759
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Achondrogenesis, Type Ia
Stillbirth, Hypoplastic sacrum, Hypoplasia of the radius, Bell-shaped thorax, Unossified vertebra... OMIM:200600
Becker Nevus Syndrome
Scoliosis, Hemivertebrae, Pectus excavatum, Cervical ribs OMIM:604919
Spondylometaphyseal Dysplasia, Algerian Type
Kyphoscoliosis, Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysi... OMIM:184253
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib morphology OMIM:602196
Limb Body Wall Complex
Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Myelomeningocele, Split foot,... ORPHA:2369
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Mucopolysaccharidosis Type 6
Abnormal metaphysis morphology, Genu valgum, Abnormal heart valve morphology, Kyphosis, Epiphysea... ORPHA:583
Short-Rib Thoracic Dysplasia 12
Anencephaly, Short ribs, Short long bone, Short finger, Hydrocephalus, Short thorax, Patent foram... OMIM:269860
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Cyanosis OMIM:207950
Achondrogenesis, Type Ii
Short tubular bones of the hand, Stillbirth, Barrel-shaped chest, Hypoplastic iliac wing, Short r... OMIM:200610
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho... OMIM:250220
Caudal Duplication
Bifid sacrum, Vertebral segmentation defect, Myelomeningocele, Spina bifida, Abnormal sacrum morp... ORPHA:1756
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Cervical myelopathy, Hypoplastic iliac wing, Pectus carinatum, Cardiomyopathy, Fl... OMIM:253200
Enlarged Parietal Foramina
Occipital encephalocele, Venous malformation, Short clavicles, Myelomeningocele, Broad thumb, Abn... ORPHA:60015
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary v... ORPHA:2184
8P23.1 Duplication Syndrome
Pulmonic stenosis, Toe syndactyly, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Lateral Meningocele Syndrome
Patent ductus arteriosus, Meningocele, Hydrocephalus, Aortic aneurysm, Scoliosis, Pectus excavatu... OMIM:130720
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Kagami-Ogata Syndrome
Kyphoscoliosis, Long clavicles, Bell-shaped thorax, Thin ribs, Pulmonic stenosis, Long fingers, P... OMIM:608149
Meckel Syndrome 14
Occipital encephalocele, Postaxial hand polydactyly, Bowing of the long bones, Postaxial polydact... OMIM:619879
Vacterl/Vater Association
Occipital encephalocele, Anencephaly, Abnormal intervertebral disk morphology, Finger syndactyly,... ORPHA:887
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Ectrodactyly, Myelomeningoce... ORPHA:2437
Greenberg Dysplasia
Short ribs, Short long bone, Short metacarpal, Hypoplastic vertebral bodies, Thoracic hypoplasia,... OMIM:215140
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Adducted thumb, Cardiomegaly, Flared metaphysis, Short ribs, Hypertrophic cardiomyopathy, Decreas... OMIM:616897
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Camptodactyly, Mitral valve prolapse, Spina bifida OMIM:211960
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Clinodactyly of the 5th finger, Scoliosis, Patent foramen ovale, Pectus excavatum, Slender finger... ORPHA:329224
Spondyloepimetaphyseal Dysplasia, Shohat Type
Squared-off platyspondyly, Fibular overgrowth, Abnormal vertebral morphology, Vertebral compressi... ORPHA:93352
Cleidocranial Dysplasia
Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal metacarpal morph... ORPHA:1452
Lateral Meningocele Syndrome
Abnormal form of the vertebral bodies, Meningocele, Scoliosis, Hyperlordosis, Pectus excavatum, K... ORPHA:2789
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, Encephalocele, 11 pairs of ribs, Hydrocephalus, 2-3 toe syndacty... OMIM:264480
Osteogenesis Imperfecta, Type Ii
Bell-shaped thorax, Crumpled long bones, Thin ribs, Tibial bowing, Abnormal pelvic girdle bone mo... OMIM:166210
Noonan Syndrome 8
Palmoplantar cutis laxa, Abnormal sternum morphology, Hypertrophic cardiomyopathy, Pulmonic steno... OMIM:615355
Hurler Syndrome
Abnormal clavicle morphology, Abnormal vertebral morphology, Abnormal diaphysis morphology, Hydro... ORPHA:93473
Bent Bone Dysplasia Syndrome 2
Butterfly vertebrae, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, H... OMIM:620076
King-Denborough Syndrome
Kyphoscoliosis, Scoliosis, Thoracic kyphosis, Short neck, Ventricular septal defect, Lumbar hyper... OMIM:619542
Yuan-Harel-Lupski Syndrome
Clinodactyly of the 5th finger, Sandal gap, Aortic root aneurysm, Bicuspid aortic valve, Ventricu... OMIM:616652
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hydrocephalus, Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus OMIM:614886
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Chromosome 6Pter-P24 Deletion Syndrome
Rocker bottom foot, Clinodactyly of the 5th finger, Hydrocephalus, Broad toe, Patent foramen oval... OMIM:612582
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus OMIM:618330
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology ORPHA:2643
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Clubbing, Right atrial enlargement, Hyp... ORPHA:439
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Campomelia, Cumming Type
Prematurely aged appearance, Bowing of the long bones, Abnormally ossified vertebrae, Abnormal ri... ORPHA:1318
Ellis-Van Creveld Syndrome
Genu valgum, Narrow chest, Hypoplastic iliac wing, Pectus carinatum, Short long bone, Short ribs,... OMIM:225500
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Scoliosis, Ventricular septal defect ORPHA:357225
Tetrasomy 5P
Clinodactyly of the 5th finger, Short hallux, Hydrocephalus, Pectus excavatum, Long fingers, Shor... ORPHA:3309
Congenital Heart Block
Patent foramen ovale, Pericardial effusion, Patent ductus arteriosus, Cyanosis, Endocardial fibro... ORPHA:60041
Triploidy
Narrow chest, Meningocele, Hydrocephalus, Finger syndactyly, Holoprosencephaly, Short neck, Abnor... ORPHA:3376
Oculoauriculofrontonasal Syndrome
Scoliosis, Ventricular septal defect, Encephalocele ORPHA:398156
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Metaphyseal irregularity, Prominent deltoid tuberosities, Umbilical... OMIM:619636
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Butterfly vertebrae, Hypoplasia of the radius, Abnormal clavicle morpholo... ORPHA:958
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Ovoid thoracolumbar vertebrae, Thickened ribs, Asymmetric septal hypertrophy OMIM:252920
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Short ribs, Femoral bowing, Short long... OMIM:615503
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Spondylolisthesis, Scoliosis, Short ribs, Cardiomyopathy, Short long bone... OMIM:252600
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hy... OMIM:274000
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Death in childhood, Hydrocephalus, Hypertrophic cardiomyopathy, Umbilical hernia, Cutis marmorata... OMIM:612938
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... OMIM:614980
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Hydrocephalus, Scoliosis, Vertebral segmentation defect, A... ORPHA:1834
Mosaic Trisomy 9
Rocker bottom foot, Finger clinodactyly, Dextrocardia, Abnormal heart valve morphology, Scoliosis... ORPHA:99776
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cervical spinal canal stenosis, Tarsal synostosis, Spondylolisthesis, Barrel-shaped chest, Pectus... OMIM:178110
Mucopolysaccharidosis, Type Vii
Narrow greater sciatic notch, Pectus carinatum, Cardiomyopathy, Large iliac wing, Kyphosis, Pectu... OMIM:253220
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... OMIM:618719
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Ventricular septal defect, Postaxial hand polydactyly, Abnormal cardiac septum mor... ORPHA:83473
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Oligodacty... ORPHA:93323
Craniorachischisis
Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida ORPHA:63260
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Toe syndactyly, Ventricular septal defect, Patent ductus arteriosus ORPHA:261120
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperlordosis, Internally rotated shoulders, Sacral dimple, Transposition of the great arteries, ... OMIM:619503
ERI1-related disease
Increased vertebral height, Clinodactyly of the 5th finger, Narrow chest, Dislocated radial head,... OMIM:608739
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Hyperlordosis, Femoral bowing, Short long bone, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu... OMIM:618019
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Beaking of vertebral bodies, Asymmetric septal hypertrophy, Ovoid thoracolumbar v... OMIM:252930
Buerger Disease
Vasculitis, Livedo reticularis, Acrocyanosis ORPHA:36258
Bardet-Biedl Syndrome 19
Y-shaped metacarpals, Partial atrioventricular canal defect, Postaxial polydactyly, Patent ductus... OMIM:615996
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Postaxial hand polydactyly, Bowing of the... OMIM:611134
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Narrow chest, Short metacarpal, Abnormal rib morphology, Iliac crest serration, Shor... ORPHA:93317
Three M Syndrome 2
Slender long bone, Short thorax, Pectus carinatum, Short 5th finger, Hyperlordosis, Thin ribs, Sc... OMIM:612921
Roifman Syndrome
Biconvex vertebral bodies, Clinodactyly of the 5th finger, Noncompaction cardiomyopathy, Short me... OMIM:616651
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Clinodactyly of the 5th finger, Sandal gap ORPHA:2515
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... OMIM:620663
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Short finger, Thin ribs, Abnormal cervical curvature, Vertebral fusion OMIM:312150
Pallister-Hall Syndrome
Mesoaxial polydactyly, Oligodactyly, Broad thumb, Umbilical hernia, Polydactyly affecting the 3rd... ORPHA:672
Trisomy 1Q
Hydrocephalus, Short thorax, Abnormal rib morphology, Arachnodactyly, Camptodactyly of finger, Pa... ORPHA:261344
Nail-Patella Syndrome
Thickening of the lateral border of the scapula, Clinodactyly of the 5th finger, Patellar hypopla... OMIM:161200
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Mmep Syndrome
Split foot, Ventricular septal defect, Triphalangeal thumb ORPHA:3434
Pagod Syndrome
Abnormal clavicle morphology, Situs inversus totalis, Encephalocele, Meningocele, Abnormal aortic... ORPHA:991
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology, Abnormality of the vertebral column OMIM:601076
Lambert Syndrome
Branchial anomaly, Ventricular septal defect, Jaundice ORPHA:1296
Osteogenesis Imperfecta, Type X
Death in childhood, Fibular bowing, Genu valgum, Vertebral compression fracture, Narrow chest, Sc... OMIM:613848
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... ORPHA:2326
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Flared metaphysis, Scoliosis, Short long bone, Metaphyseal spurs, C... ORPHA:85167
Diamond-Blackfan Anemia 7
Triphalangeal thumb, Scoliosis, Sprengel anomaly, Secundum atrial septal defect, Tetralogy of Fal... OMIM:612562
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Abnormal form o... ORPHA:3258
Larsen Syndrome
Beaking of vertebral bodies, Spatulate thumbs, Spondylolysis, Multiple carpal ossification center... OMIM:150250
Developmental Delay, Language Impairment, And Ocular Abnormalities
Scoliosis, Myelomeningocele, Pulmonic stenosis, Facial telangiectasia, Contracture of the proxima... OMIM:620141
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pect... OMIM:114290
3P25.3 Microdeletion Syndrome
Sacral dimple, Proximal placement of thumb, Coronary artery atherosclerosis, Scoliosis, Pulmonic ... ORPHA:435638
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Thin ribs, Femoral bowing, Bowing of the long bones, Biconcave ve... OMIM:617952
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Sacral dimple, Scoliosis, Overlapping toe, Broad thumb, Down-sloping shoulders, Short neck, Atria... OMIM:617452
Codas Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Short metacarpal, Abnormal pelvic girdle bone m... ORPHA:1458
Intellectual Developmental Disorder, Autosomal Recessive 79
Clinodactyly of the 5th finger, Short hallux, Slender finger, Long fingers, Ventricular septal de... OMIM:620393
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Maternal Phenylketonuria
Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Bifid distal phalanx of the... ORPHA:2209
Congenital Pulmonary Lymphangiectasia
Pulmonic stenosis, Cyanosis, Chylopericardium ORPHA:2414
Restrictive Dermopathy 2
Short clavicles, Cyanosis, Overtubulated long bones OMIM:619793
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Arteria lusoria, Muscular ventricular sep... OMIM:212093
Dextrocardia
Situs inversus totalis, Dextrocardia, Hydrocephalus, Abnormal rib morphology, Congenital hip disl... ORPHA:1666
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Sifrim-Hitz-Weiss Syndrome
Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Coarctation of aorta, Tetralogy ... OMIM:617159
Focal Dermal Hypoplasia
Finger syndactyly, Short clavicles, Scoliosis, Short ribs, Split hand, Spina bifida, Umbilical he... ORPHA:2092
Dysosteosclerosis
Diaphyseal undertubulation, Clavicular sclerosis, Abnormal metaphyseal trabeculation, Narrow ches... OMIM:224300
Asbestos Intoxication
Clubbing of fingers, Hypoxemia, Myocardial fibrosis, Cyanosis, Cor pulmonale, Oxygen desaturation... ORPHA:2302
Weill-Marchesani Syndrome 1
Broad phalanges of the hand, Scoliosis, Broad metacarpals, Broad metatarsal, Pulmonic stenosis, S... OMIM:277600
Primary Pulmonary Hypoplasia
Cyanosis, Patellar hypoplasia, Dextrocardia, Hypoxemia, Secundum atrial septal defect, Abnormal p... ORPHA:2257
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Short finger, Thin ribs, Abnormal cervical curvature, Vertebral fusion OMIM:253290
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Dislocated radial head, Arachnodactyly, Increased density of lon... OMIM:305620
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Clinodactyly of the 5th finger, Pectus carinatum, 2-3 toe syndactyly, Hemivertebrae, Vertebral cl... OMIM:614701
Shprintzen-Goldberg Craniosynostosis Syndrome
Lateral clavicle hook, Genu valgum, Aortic aneurysm, C1-C2 vertebral abnormality, Hydrocephalus, ... OMIM:182212
Osteogenesis Imperfecta, Type Xvi
Vertebral compression fracture, Narrow chest, Angulated humerus, Short long bone, Bowing of the l... OMIM:616229
Pericardial And Diaphragmatic Defect
Abnormal sternum morphology, Pectus excavatum, Hypoxemia, Mitral stenosis, Abnormal heart morphol... ORPHA:2847
Wildervanck Syndrome
Short neck, Fused cervical vertebrae, Meningocele ORPHA:3456
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Thoracic kyphosis, Platyspondyly, Short neck, Ventricula... ORPHA:85194
Otopalatodigital Syndrome, Type Ii
Kyphoscoliosis, Rocker bottom foot, Spondylolysis, Short ribs, Femoral bowing, Tibial bowing, Sho... OMIM:304120
Hypophosphatasia
Abnormal metaphysis morphology, Narrow chest, Bowing of the long bones, Abnormal rib morphology ORPHA:436
Craniofaciofrontodigital Syndrome
Anomalous branches of internal carotid artery, Dilatation of the cerebral artery, Cardiomegaly, P... ORPHA:363705
Garg-Mishra Progeroid Syndrome
Narrow chest, Slender long bone, Thin ribs, Ovoid vertebral bodies, Slender metacarpals, Platyspo... OMIM:620601
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Hydrocephalus, Cutis marmorata, Syndactyly, Ventricular septal defect OMIM:602501
Waardenburg Syndrome Type 1
Premature graying of hair, Meningocele, Scoliosis, Spina bifida, Sprengel anomaly ORPHA:894
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Clinodactyly of the 5th finger, Sandal gap, Scoliosis, 2-3 toe syndactyly, Scapular winging, Pect... OMIM:617061
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Osteogenesis Imperfecta, Type Iii
Slender long bone, Scoliosis, Tibial bowing, Thin ribs, Kyphosis, Biconcave vertebral bodies, Pro... OMIM:259420
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Short ribs, Cupped ribs, Interphalangeal joint contracture of finger, Hip contrac... ORPHA:1145
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus, Scoliosis, Patent foramen ovale, Abnormal heart morphology, Umbilical h... ORPHA:500159
Viss Syndrome
Rocker bottom foot, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Pectus... OMIM:619472
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Cyanosis, Abnormal tricuspid valve annulus morphology, Patent foramen o... ORPHA:555874
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Pectus carinatum, Hyperlordosis, Ab... ORPHA:3068
Trisomy X
Clinodactyly of the 5th finger, Pectus excavatum, Hip dysplasia, Atrial septal defect, Ventricula... ORPHA:3375
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, Horizon... OMIM:614857
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Kyphoscoliosis, Ischemic stroke, Cervical ribs, Slender long bone, Hemivertebrae, Transient ische... ORPHA:500150
Galloway-Mowat Syndrome 7
Kyphoscoliosis, Hallux valgus, Pectus excavatum, Arachnodactyly, Partial duplication of thumb pha... OMIM:618348
Grange Syndrome
Short palm, Syndactyly, Arterial stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis, Abnormal thorax morphology ORPHA:70587
Cole-Carpenter Syndrome 2
Hydrocephalus, Narrow iliac wing, Thin ribs, Pectus excavatum, Kyphosis, Platyspondyly OMIM:616294
Acalvaria
Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyly, Spina bifida ORPHA:945
Noonan Syndrome 4
Pectus excavatum of inferior sternum, Abnormal sternum morphology, Scoliosis, Pectus excavatum, H... OMIM:610733
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Anencephaly, Narrow chest, Hydrocephalus, Short ribs, Postaxial polydactyly... OMIM:616546
Wolcott-Rallison Syndrome
Double outlet right ventricle, Atrial septal defect, Jaundice, Metaphyseal dysplasia ORPHA:1667
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na... OMIM:617925
Renpenning Syndrome
Abnormal thumb morphology, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphol... ORPHA:3242
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Congenital Fibrinogen Deficiency
Cyanosis, Clubbing of fingers, Right ventricular hypertrophy, Left ventricular hypertrophy, Bruis... ORPHA:335
Breath-Holding Spells
Cyanosis OMIM:607578
Waardenburg Syndrome Type 3
Abnormal finger morphology, Synostosis of carpal bones, Camptodactyly of finger, Cutaneous finger... ORPHA:896
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Bell-shaped t... OMIM:616300
Jansen-De Vries Syndrome
Hyperlordosis, Brachydactyly, Bicuspid aortic valve, Ventricular septal defect, Short foot, Small... OMIM:617450
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Congenital Myasthenic Syndrome
Kyphoscoliosis, Spinal rigidity, Pectus carinatum, Congenital hip dislocation, Cyanosis, Neuropat... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Kyphoscoliosis, Spinal rigidity, Pectus carinatum, Congenital hip dislocation, Cyanosis, Neuropat... ORPHA:98914
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Brachydactyly, Split hand, Abnormal rib morphology ORPHA:2145
Congenital Heart Defects And Skeletal Malformations Syndrome
Clinodactyly of the 5th finger, Sandal gap, Aortic root aneurysm, Scoliosis, Pectus excavatum, Ky... OMIM:617602
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Scoliosis, Patent foramen ovale, Prominent fingertip pads, Coarctation of aorta, Abnormal heart m... OMIM:618494
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Kyphosis, Short 3rd metacarpal, Umbili... OMIM:169400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot... OMIM:263520
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Scoliosi... OMIM:613091
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Metaphyseal irregularity, Short finger, Flared metaphysis, Metaphys... OMIM:608940
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Multiple carpal ossification centers, Dislocated radial head, Ventricular hypertr... OMIM:143095
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Tetralogy of Fallot, Atrial septal defect, Ven... OMIM:612946
Opsismodysplasia
Posterior rib cupping, Bell-shaped thorax, Narrow chest, Metaphyseal cupping, Hypoplastic pubic b... OMIM:258480
Recombinant 8 Syndrome
Clinodactyly of the 5th finger, Abnormal sternum morphology, Scoliosis, Pectus excavatum, Pulmona... ORPHA:96167
Mosaic Trisomy 16
Large placenta, Single coronary artery origin, Ventricular septal defect, Coarctation of aorta, A... ORPHA:1708
Noonan Syndrome 10
Patent ductus arteriosus, Palmoplantar cutis laxa, Pectus carinatum, Scoliosis, Pectus excavatum,... OMIM:616564
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Scoliosis, Pectus excavatum, Patent ductus arteriosus, Short neck, Ventricular septal defect ORPHA:52055
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Hydrocephalus, Death in infancy, Bilateral radial aplasia, Coarcta... OMIM:300514
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Cyanosis, Bicuspid pulm... ORPHA:3427
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cervical spinal canal stenosis, Occipital encephalocele, Long clavicles, Bell-shaped thorax, Earl... ORPHA:397715
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Short neck, Cyanotic episode ORPHA:284417
Fucosidosis
Anterior beaking of lumbar vertebrae, Vascular skin abnormality, Kyphosis, Acrocyanosis, Cardiome... ORPHA:349
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec... OMIM:186500
Charge Syndrome
Absent tibia, Pulmonic stenosis, Dysplastic tricuspid valve, Absent radius, Umbilical hernia, Bif... OMIM:214800
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Kury-Isidor Syndrome
Rocker bottom foot, Sacral dimple, Proximal placement of thumb, Finger syndactyly, Scoliosis, Bra... OMIM:619762
Acrofacial Dysostosis 1, Nager Type
Radial deviation of finger, Absent thumb, Absent radius, Overlapping toe, Clinodactyly, Hip dislo... OMIM:154400
Waardenburg Syndrome, Type 1
Premature graying of hair, Myelomeningocele, Spina bifida, Sprengel anomaly, Supernumerary ribs, ... OMIM:193500
Li-Campeau Syndrome
Patellar hypoplasia, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventri... OMIM:619189
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Pulmonic stenosis, Overlapping toe, Atrial septal defect, Ventricular septal defec... OMIM:614262
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:300106
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Osteogenesis Imperfecta
Abnormal femur morphology, Abnormal hip bone morphology, Abnormal form of the vertebral bodies, D... ORPHA:666
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Abnormal aortic ... ORPHA:96334
Digeorge Syndrome
Right aortic arch with mirror image branching, Patent ductus arteriosus, Intervertebral disk dege... OMIM:188400
X-Linked Intellectual Disability, Nascimento Type
Abnormal vena cava morphology, Patent foramen ovale, Mitral stenosis, Tetralogy of Fallot, Clubbi... ORPHA:163956
Shwachman-Diamond Syndrome 1
Narrow greater sciatic notch, Enlargement of the costochondral junction, Metaphyseal sclerosis, N... OMIM:260400
Aspergillosis
Abnormal long bone morphology, Abnormality of the vertebral column, Stroke, Abnormal rib morpholo... ORPHA:1163
Duane-Radial Ray Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Fused cervical vertebrae,... OMIM:607323
Hyperparathyroidism, Transient Neonatal
Narrow chest, Stroke, Short ribs, Femoral bowing, Short long bone, Metaphyseal spurs, Communicati... OMIM:618188
Mosaic Trisomy 20
Fused cervical vertebrae, Narrow chest, Scoliosis, Vertebral segmentation defect, Kyphosis, Spina...