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
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Vertebral fusion, Hypoplastic... OMIM:618845
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Contracture of... OMIM:609813
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Ventricular septal defect, Atrial septal defect, Abnormal mitral ... ORPHA:1354
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Pectus excavatum, Abnormality of the odontoid process, Scoliosis, Vertebr... OMIM:613686
Tricuspid Atresia
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Ventricular septal... ORPHA:1209
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Short neck, Death in infancy, Hemivertebra... OMIM:277300
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Hemivertebrae, Vertebral clefting, Rib fusion, Vertebral segmentation defect OMIM:608681
Poland Syndrome
Dextrocardia, Short ribs, Syndactyly, Hemivertebrae, Unilateral oligodactyly, Sprengel anomaly, U... OMIM:173800
16P13.11 Microduplication Syndrome
Pectus excavatum, Hand polydactyly, Coarctation of aorta, Atrial septal defect, Tetralogy of Fall... ORPHA:261243
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Scoliosis, Short neck, Missing ribs, Abnormal rib morphology, Posteri... ORPHA:1797
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Scoliosis, Short thorax, Short neck, Meningocele, Umbilical hernia, Fing... ORPHA:2311
Congenital Absence Of Upper Arm And Forearm With Hand Present
Congenital malformation of the great arteries, Polydactyly, Abnormality of the vertebral column, ... ORPHA:294975
Spondylocostal Dysostosis 5
Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Missing ribs, Hemive... OMIM:122600
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Pectus excavatum, Scoliosis, Aortic root aneurysm, Cerebral cavern... OMIM:619910
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Kyphosis, Pectus carinatum, Spina bifida occulta, Supernumerary ribs... ORPHA:64755
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, C... ORPHA:3268
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pectus excavatum, Pulmonic stenosis, Perimembranous ventricular septal defect, Clinodactyly of th... OMIM:617877
Basal Cell Nevus Syndrome 1
Cardiac fibroma, Down-sloping shoulders, Scoliosis, Vertebral fusion, Polydactyly, Spina bifida, ... OMIM:109400
Eng-Strom Syndrome
Camptodactyly of finger, Scoliosis, Pectus excavatum, Ventricular septal defect, Abnormal cardiac... ORPHA:1937
Pyknoachondrogenesis
Stillbirth OMIM:265880
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Hydranencephaly, Truncus arteriosus, Ventricular septal defect OMIM:601355
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Scoliosis, Short neck, Abnormality of the vertebral column, Ventricul... ORPHA:2345
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Ritscher-Schinzel Syndrome 1
Hypoplastic left heart, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Missi... OMIM:220210
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Hand polydactyly, Absent radius, Hydrocephalus, Abnormality of the v... OMIM:314390
Diabetic Embryopathy
Abnormal sacrum morphology, Spinal dysraphism, Tetralogy of Fallot, Ventricular septal defect, Hy... ORPHA:1926
Femoral-Facial Syndrome
Abnormal sacrum morphology, Scoliosis, Abnormality of fibula morphology, Hip dysplasia, Preaxial ... ORPHA:1988
Verheij Syndrome
Scoliosis, Vertebral fusion, Hip dislocation, Ventricular septal defect, Short neck, Hemivertebra... OMIM:615583
Holt-Oram Syndrome
Scoliosis, Abnormality of the humerus, Hypoplastic left heart, Ventricular septal defect, Atrial ... ORPHA:392
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Criss-Cross Heart
Pulmonic stenosis, Ventricular septal defect, Abnormal mitral valve morphology, Tricuspid stenosi... ORPHA:1461
Cerebrofaciothoracic Dysplasia
Scoliosis, Short neck, Hemivertebrae, Narrow chest, Sprengel anomaly, Vertebral segmentation defe... ORPHA:1394
Conotruncal Heart Malformations
Coarctation of aorta, Postaxial polydactyly, Complete atrioventricular canal defect, Double outle... OMIM:217095
Fetal Trimethadione Syndrome
Scoliosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of... ORPHA:1913
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Coarctation of aorta, Short thumb, Atrial septal defect, Spina bi... ORPHA:1120
Genitopalatocardiac Syndrome
Double outlet right ventricle, Transposition of the great arteries, Right aortic arch, Ventricula... OMIM:231060
Spondylometaphyseal Dysplasia, Type A4
Enlargement of the costochondral junction, Narrow greater sciatic notch, Metaphyseal sclerosis, O... OMIM:609052
Carpenter Syndrome 1
Scoliosis, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Preaxial foot po... OMIM:201000
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal coronary artery morphology, Coarctation of aorta, A... ORPHA:860
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Congenital Heart Defects, Multiple Types, 6
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis,... OMIM:613854
Metatropic Dysplasia
Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Long thorax, Hydrocephalus, K... ORPHA:2635
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Ventricular septal defect, Short neck, Abnormal aortic morphology... ORPHA:2516
Heterotaxy, Visceral, 1, X-Linked
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Atrioventricular canal d... OMIM:306955
Recombinant Chromosome 8 Syndrome
Pectus excavatum, Scoliosis, Camptodactyly, Pulmonic stenosis, Atrial septal defect, Tetralogy of... OMIM:179613
Metatropic Dysplasia
Scoliosis, Relatively short spine, Anisospondyly, Flared iliac wing, Halberd-shaped pelvis, Metap... OMIM:156530
8P23.1 Microdeletion Syndrome
Enlarged thorax, Hypoplastic left heart, Tetralogy of Fallot, Short neck, Atrioventricular canal ... ORPHA:251071
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus, Syndactyly OMIM:215850
Catel-Manzke Syndrome
Camptodactyly of finger, Pectus excavatum, Scoliosis, Atrial septal defect, Ventricular septal de... ORPHA:1388
Phaver Syndrome
Pulmonary artery atresia, Butterfly vertebrae, Coarctation of aorta, Camptodactyly of finger, Sho... ORPHA:2876
Sprengel Deformity
Scoliosis, Hemivertebrae, Cervical segmentation defect, Rib segmentation abnormalities, Spina bif... OMIM:184400
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Pectus excavatum, Scoliosis, Vertebral fusion, Short neck, Atrial septal defect, Overlapping toe,... OMIM:213980
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Myelomeningocele, Short neck, Mis... ORPHA:66637
14Q24.1Q24.3 Microdeletion Syndrome
Pulmonary artery atresia, Short thumb, Atrial septal defect, Ventricular septal defect, Dislocate... ORPHA:401935
Heterotaxy, Visceral, 4, Autosomal
Pulmonary artery atresia, Dextrocardia, Right aortic arch, Ventricular septal defect, Total anoma... OMIM:613751
Scimitar Syndrome
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Lef... ORPHA:185
Nemaline Myopathy 9
Narrow chest, Scoliosis, Ventricular septal defect OMIM:615731
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Short Rib-Polydactyly Syndrome
Situs inversus totalis, Abnormal long bone morphology, Absent or minimally ossified vertebral bod... ORPHA:1505
Congenital Heart Defects, Multiple Types, 5
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... OMIM:617912
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hip dislocation, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect, P... ORPHA:508498
Heterotaxy, Visceral, 7, Autosomal
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Hypoplasia of right ventricle, Ri... OMIM:616749
Perching Syndrome
Cyanosis, Camptodactyly, Scoliosis OMIM:617055
Emanuel Syndrome
Scoliosis, Congenital hip dislocation, Pulmonic stenosis, Ventricular septal defect, Atrial septa... ORPHA:96170
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Scoliosis, Pectus excavatum, Atrial septal defect, Tetralogy of Fallot,... OMIM:618316
Adams-Oliver Syndrome 6
Foot oligodactyly, Ventricular septal defect, Syndactyly, Cutis marmorata, Truncus arteriosus, Br... OMIM:616589
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial foot polydactyly, Horizontal ribs, Lateral clavicle hook, Short ribs, Death in infancy,... OMIM:617405
Endosteal Hyperostosis, Worth Type
Abnormal rib morphology, Clavicular sclerosis, Diaphyseal thickening, Sclerotic vertebral body, A... ORPHA:2790
Structural Heart Defects And Renal Anomalies Syndrome
Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Overlapp... OMIM:617478
Aicardi Syndrome
Scoliosis, Butterfly vertebrae, Spina bifida, Proximal placement of thumb, Missing ribs, Hemivert... OMIM:304050
Kyphomelic Dysplasia
Lateral clavicle hook, Abnormal metaphysis morphology, Missing ribs, Flat acetabular roof, Anteri... ORPHA:1801
Vater/Vacterl Association
Scoliosis, Absent radius, Short thumb, Tetralogy of Fallot, Ventricular septal defect, Spina bifi... OMIM:192350
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Ventricular septal defect, Short neck, Proximal placement of thum... ORPHA:93267
22Q11.2 Duplication Syndrome
Scoliosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Interrupted ao... ORPHA:1727
Emanuel Syndrome
Scoliosis, Congenital hip dislocation, Pulmonic stenosis, Atrial septal defect, Ventricular septa... OMIM:609029
Acropectorovertebral Dysplasia
Short thumb, Radial deviation of the 2nd finger, Capitate-hamate fusion, Finger syndactyly, Synos... OMIM:102510
Congenital Disorder Of Glycosylation, Type Iig
Camptodactyly, Butterfly vertebrae, Ulnar deviation of finger, Short neck, Left ventricular hyper... OMIM:611209
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Dextrocardia, Hand polydactyly, Atrial septal defect, Abnormal aortic valve morphology... ORPHA:261197
Stankiewicz-Isidor Syndrome
Short thumb, Ventricular septal defect, Sacral dimple, 2-3 toe syndactyly, Patent ductus arterios... OMIM:617516
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Double Outlet Right Ventricle
Pulmonary artery atresia, Coarctation of aorta, Hypoplastic left heart, Pulmonic stenosis, Tetral... ORPHA:3426
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Lumbar hyperlordosis, Narrow greater sciatic notch, Irregular vertebral endplates, Fla... OMIM:609616
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Clinodactyly, Transposition of the great arteries, Patent foramen ovale, Short neck OMIM:616789
Autosomal Recessive Robinow Syndrome
Abnormal pulmonary valve morphology, Scoliosis, Short distal phalanx of finger, Camptodactyly of ... ORPHA:1507
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Coarctation of aorta, Abnormal vertebral morphology, Ethmoidal encephalo... ORPHA:280195
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Scoliosis, Ventricular septal defect, Sacral dimple, Dextrotransposition of the great arteries, B... OMIM:619995
White Forelock With Malformations
Atrial septal defect, Finger syndactyly, Abnormal rib morphology, Spina bifida occulta, Sprengel ... ORPHA:2475
Metaphyseal Chondrodysplasia, Schmid Type
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... ORPHA:174
Bullous Dystrophy, Hereditary Macular Type
Short finger, Death in childhood, Acrocyanosis, Tapered finger OMIM:302000
Isolated Hemihyperplasia
Asymmetry of the thorax, Scoliosis, Myelomeningocele ORPHA:2128
Meacham Syndrome
Death in childhood, Dextrocardia, Coarctation of aorta, Hypoplastic left heart, Right aortic arch... OMIM:608978
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Right aortic arch, Total anomalous ... OMIM:614779
Thakker-Donnai Syndrome
Ventricular septal defect, Tetralogy of Fallot, Short neck, Communicating hydrocephalus, Hemivert... ORPHA:1780
Femoral-Facial Syndrome
Scoliosis, Ventricular septal defect, Preaxial foot polydactyly, Toe syndactyly, Sprengel anomaly... OMIM:134780
Ververi-Brady Syndrome
Scoliosis, Metaphyseal irregularity, Clinodactyly of the 5th finger, Transposition of the great a... OMIM:617982
Truncus Arteriosus
Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal... ORPHA:3384
Aicardi Syndrome
Scoliosis, Butterfly vertebrae, Hip dysplasia, Missing ribs, Supernumerary ribs, Small hand, Rib ... ORPHA:50
Axial Spondylometaphyseal Dysplasia
Scoliosis, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proxi... ORPHA:168549
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology, Tetralogy of Fallot ORPHA:276422
Right Atrial Isomerism
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Pulmonic stenosis, Ventricular se... OMIM:208530
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Scoliosis, Irregular chondrocostal junctions, Irregular vertebral endplates, Met... OMIM:187760
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Coarcta... ORPHA:99050
Autosomal Recessive Multiple Pterygium Syndrome
Pectus excavatum, Scoliosis, Camptodactyly of finger, Aortic aneurysm, Umbilical hernia, Finger s... ORPHA:2990
Cardiac Diverticulum
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal heart morphology, ... ORPHA:1686
Noonan Syndrome 12
Pectus excavatum, Ventricular septal defect, Tetralogy of Fallot, Proximal placement of thumb, Sp... OMIM:618624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Scoliosis, Pulmonic stenosis, Atrial septal defect, Hydrocephalus, Holoprosencepha... OMIM:253800
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Umbilical hernia, Aplasia of the middle phalanx ... OMIM:615297
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Osteolysis involving bones... ORPHA:371428
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Ventricular septal defect, Short neck, Fused cervical vertebrae, Sprengel anomaly, Cer... OMIM:214300
Spondylometaphyseal Dysplasia, Axial
Thoracic hypoplasia, Scoliosis, Anterior rib cupping, Platyspondyly, Short femoral neck, Narrow c... OMIM:602271
Mucopolysaccharidosis, Type Iva
Cervical myelopathy, Scoliosis, Cervical subluxation, Epiphyseal deformities of tubular bones, Po... OMIM:253000
Heart Defects, Congenital, And Other Congenital Anomalies
Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Hypoplas... OMIM:600001
Acrocardiofacial Syndrome
Camptodactyly of finger, Coarctation of aorta, Hallux valgus, Atrial septal defect, Tetralogy of ... ORPHA:2008
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Overriding aorta, Double outlet rig... ORPHA:3304
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Vertebral fusion, Supernumerary vertebrae, Short neck, Short ribs, Missing ribs, Thin ... OMIM:271520
Primary Ciliary Dyskinesia
Situs inversus totalis, Atrial situs ambiguous, Clubbing, Hydrocephalus, Abnormal heart morpholog... ORPHA:244
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Hydrocephalus, Hemivertebrae, Abnormal rib morphology, Brachydactyly, Sprengel anomaly... ORPHA:2180
Desbuquois Syndrome
Camptodactyly of finger, Scoliosis, Abnormal metaphysis morphology, Ventricular septal defect, Sh... ORPHA:1425
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Oligodactyly, Postaxial foot polydactyly, Hip dislocation, Y-... OMIM:146510
Neuralgic Amyotrophy
Sprengel anomaly, Acrocyanosis, Scapular winging ORPHA:2901
1P36 Deletion Syndrome
Camptodactyly of finger, Scoliosis, Hip dysplasia, Tetralogy of Fallot, Aortic arch aneurysm, Abn... ORPHA:1606
Rare Circulatory System Disease
Vascular calcification, Abnormal metatarsal morphology, Thoracic kyphosis, Abnormal systemic arte... ORPHA:98028
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Dextrocardia, Meningocele, Missing ribs, Abnormal tricuspid valve morpho... ORPHA:1759
Cooper-Jabs Syndrome
Camptodactyly of finger, Scoliosis, Ventricular septal defect, Proximal placement of thumb, Missi... ORPHA:1488
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Metaphyseal spurs, Thoracic hypoplasia, Pectus excavatum, Lumbar hyperlordosis, Ovoid vertebral b... OMIM:608728
Microphthalmia, Syndromic 3
Butterfly vertebrae, Vertebral fusion, Ventricular septal defect, Missing ribs, Hemivertebrae, Su... OMIM:206900
Jeune Syndrome
Postaxial foot polydactyly, Abnormal metaphysis morphology, Abnormal rib morphology, Toe syndacty... ORPHA:474
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Camptodactyly of finger, Scoliosis, Hip dysplasia, Tetralogy of Fal... OMIM:607872
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Clinodactyly, Scoliosis, Club-shaped proximal femur, Anterior rib cupping, Platyspondyly, Brachyd... OMIM:184250
Schneckenbecken Dysplasia
Thoracic hypoplasia, Lateral clavicle hook, Ovoid vertebral bodies, Short neck, Short ribs, Umbil... OMIM:269250
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short finger, Scoliosis, Ovoid vertebral bodies, Metaphyseal cupping, Metaphyseal widening, Hypop... OMIM:608940
Spondyloepimetaphyseal Dysplasia, Irapa Type
Enlargement of the costochondral junction, Lumbar hyperlordosis, Short metatarsal, Capitate-hamat... OMIM:271650
Distal 22Q11.2 Microdeletion Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Ulnar deviation of finger, Atrial septal... ORPHA:261330
Mesomelic Dysplasia, Kantaputra Type
Dumbbell-shaped humerus, Abnormality of the humerus, Abnormality of fibula morphology, Ulnar devi... ORPHA:1836
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Short metatarsal, Short metacarpal, Synostosis of carpal bones, A... ORPHA:93351
Multiple Pterygium Syndrome, Escobar Variant
Down-sloping shoulders, Camptodactyly of toe, Scoliosis, Hip dislocation, Patellar aplasia, Ulnar... OMIM:265000
Short Stature And Facioauriculothoracic Malformations
Pectus excavatum, Abnormality of the odontoid process, Ventricular septal defect, Short neck, Pec... OMIM:609654
Fibrochondrogenesis 2
Thoracic hypoplasia, Hypoplastic ilia, Metaphyseal cupping, Short ribs, Metaphyseal widening, Pla... OMIM:614524
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Hypoplastic left heart, Right aortic arch, Ventricular septal defect, Atr... OMIM:619702
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Short palm, Coxa vara ORPHA:168555
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Intellectual Developmental Disorder, Autosomal Recessive 73
Scoliosis, Clinodactyly of the 5th finger, Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Robinow Syndrome, Autosomal Recessive 1
Short distal phalanx of finger, Scoliosis, Aplasia/Hypoplasia involving the metacarpal bones, Bro... OMIM:268310
Prune Belly Syndrome
Pectus excavatum, Scoliosis, Congenital hip dislocation, Atrial septal defect, Ventricular septal... ORPHA:2970
Ventricular Septal Defect 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... OMIM:614429
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Death in infancy, Epiphyseal stippling, Ventricular septal defect OMIM:614876
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Pulmonic stenosis, Stillbirth, Aortic valve stenosis, Hypertrophic cardio... OMIM:615415
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Thoracic aortic... OMIM:619657
Pontine Tegmental Cap Dysplasia
Hemivertebrae, Rib fusion, Scoliosis OMIM:614688
Mucopolysaccharidosis, Type X
Scoliosis, Spatulate ribs, Hip dysplasia, Left ventricular hypertrophy, Broad ribs, Broad clavicl... OMIM:619698
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Long clavicles, Fifth finger distal phalanx clinodactyly, Aplasia/Hypopl... ORPHA:2839
Obsolete: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Hip dislocation, Hip dysplasia, Ulnar deviation of finger, Hypoplastic ilia, Abnormal ... ORPHA:93359
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Scoliosis, Pectus excavatum, Short lower limbs, Kyphosis, Platyspondyly, Pectus cari... OMIM:259440
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Mucopolysaccharidosis, Type Ivb
Cervical myelopathy, Scoliosis, Hip dysplasia, Pointed proximal second through fifth metacarpals,... OMIM:253010
Robinow Syndrome
Fused thoracic vertebrae, Scoliosis, Coarctation of aorta, Short distal phalanx of finger, Pulmon... ORPHA:97360
Mucolipidosis Iii Gamma
Scoliosis, Short neck, Kyphosis, Abnormal rib cage morphology, Pectus carinatum, Aortic valve ste... OMIM:252605
Diastrophic Dysplasia
Short finger, Camptodactyly of finger, Scoliosis, Ulnar deviation of finger, Hip dysplasia, Abnor... ORPHA:628
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Proximal placement of thumb, Ventricular septal defect, Dextrotrans... OMIM:618619
Mucopolysaccharidosis Type 4
Scoliosis, Abnormal metaphysis morphology, Short neck, Coxa valga, Abnormal heart valve morpholog... ORPHA:582
Microphthalmia, Syndromic 9
Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Right ao... OMIM:601186
Nevus Comedonicus Syndrome
Scoliosis, Preaxial polydactyly, Spina bifida, Finger syndactyly, Toe syndactyly, Spina bifida oc... ORPHA:64754
Thanatophoric Dysplasia, Type Ii
Hypoplastic ilia, Short greater sciatic notch, Short ribs, Neonatal death, Platyspondyly, Narrow ... OMIM:187601
Holt-Oram Syndrome
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Thoracic scolio... OMIM:142900
Aortic Arch Interruption
Left ventricular hypertrophy, Ventricular septal defect, Abnormal ascending aorta morphology, Aor... ORPHA:2299
Fibrochondrogenesis 1
Long clavicles, Posterior vertebral hypoplasia, Thin ribs, Broad long bones, Patent foramen ovale... OMIM:228520
Melnick-Needles Syndrome
Short distal phalanx of finger, Scoliosis, Hip dislocation, Abnormal metaphysis morphology, Coxa ... ORPHA:2484
Cog1-Cdg
Rib fusion, Butterfly vertebrae, Short neck, Flat acetabular roof, Coxa valga, Atrial septal dila... ORPHA:263508
Spondylometaphyseal Dysplasia, Kozlowski Type
Scoliosis, Narrow greater sciatic notch, Dumbbell-shaped femur, Short neck, Irregular, rachitic-l... OMIM:184252
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Thin ribs, Wafer-thin platyspondyly, Metaphyseal irregularity, Radial bowing... OMIM:151210
Thanatophoric Dysplasia, Type I
Thoracic hypoplasia, Hypoplastic ilia, Short greater sciatic notch, Short neck, Hydrocephalus, Sh... OMIM:187600
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Vent... ORPHA:2255
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
Pentalogy Of Cantrell
Encephalocele, Scoliosis, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, H... ORPHA:1335
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Atr... OMIM:265380
Cerebrocostomandibular Syndrome
Spina bifida, Hydranencephaly, Ventricular septal defect, Myelomeningocele, Meningocele, Death in... ORPHA:1393
Congenital Heart Defects, Multiple Types, 4
Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atr... OMIM:615779
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal cardiac septum morphology, Abnormal form of the vertebral bodies ORPHA:93941
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Pectus excavatum, Camptodactyly, Hip dysplasia, Prominent coccyx, ... OMIM:249420
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Sacral dimple, Tapered finger, Rib fusion, Dilation of Virchow-Robin spaces, Vascula... ORPHA:544488
Partial Atrioventricular Septal Defect
Coarctation of aorta, Hypoplastic left heart, Bacterial endocarditis, Tetralogy of Fallot, Anomal... ORPHA:1330
Neu-Laxova Syndrome 1
Short umbilical cord, Camptodactyly, Yellow subcutaneous tissue covered by thin, scaly skin, Vent... OMIM:256520
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Thoracic dysplasia, Thoracic hypoplasia, Lateral clavicle hook, Ventricular septal defect, Hydroc... OMIM:615630
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Short neck, Abnormal hip bone morphology, Kyphosis, Abnormal rib morphology, Ab... ORPHA:2522
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Wolf-Hirschhorn Syndrome
Scoliosis, Abnormal thorax morphology, Short thumb, Atrial septal defect, Abnormality of the vert... ORPHA:280
Brachydactyly, Type B1
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Ventricu... OMIM:113000
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Short neck, Syndactyly, Cutaneous syndactyly, Radial deviati... OMIM:148050
Chime Syndrome
Erythema, Hip dislocation, Tetralogy of Fallot, Ventricular septal defect, Pulmonary valve atresi... ORPHA:3474
3M Syndrome
Abnormal cerebral vascular morphology, Horizontal ribs, Scoliosis, Enlarged thorax, Hypoplastic p... ORPHA:2616
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Thoracic dysplasia, Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Bell-shaped th... OMIM:615633
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Spina bifida, Ventricular septal defect, Anencephaly, Aplasia/Hypoplasia ... ORPHA:2476
Thoracic Outlet Syndrome
Abnormal rib morphology, Varicose veins ORPHA:97330
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Hip dislocation, Irregular vertebral endplates, Short neck, Delayed ossification of ca... OMIM:618395
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral... OMIM:223800
8Q24.3 Microdeletion Syndrome
Hip dysplasia, Ventricular septal defect, Hypoplastic aortic arch, Atrioventricular canal defect,... ORPHA:508488
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hydrocephalus, Metaphyseal cupping, Hypoplasia of the calcaneus, Thin ribs, Platyspondyly, Metaph... OMIM:300863
3C Syndrome
Scoliosis, Hand polydactyly, Hypoplastic left heart, Pulmonic stenosis, Short neck, Ventricular s... ORPHA:7
Microgastria-Limb Reduction Defect Syndrome
Oligodactyly, Abnormality of the humerus, Absent hand, Short thumb, Atrial septal defect, Phocome... ORPHA:2538
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Ventricular septal defect, Atrial septal defect, Abnormality of t... ORPHA:79345
22Q11.2 Deletion Syndrome
Abnormal pulmonary valve morphology, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, A... ORPHA:567
Dyggve-Melchior-Clausen Disease
Horizontal inferior border of scapula, Atlantoaxial instability, Iliac crest serration, Abnormal ... ORPHA:239
Achondrogenesis Type 1B
Short neck, Umbilical hernia, Abnormal rib morphology, Narrow chest, Short thorax, Short foot ORPHA:93298
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal inferior vena cava morphology, Coarctation of aorta... ORPHA:980
Gm1-Gangliosidosis, Type I
Scoliosis, Short neck, Hypoplastic vertebral bodies, Angiokeratoma corporis diffusum, Abnormal he... OMIM:230500
Cardiospondylocarpofacial Syndrome
Dysplastic tricuspid valve, Herniation of intervertebral nuclei, Scoliosis, Ventricular septal de... OMIM:157800
Pseudoachondroplasia
Short distal phalanx of finger, Scoliosis, Radial metaphyseal irregularity, Irregular epiphyses, ... OMIM:177170
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Pectus excavatum, Scoliosis, Butterfly vertebrae, Finger joint hypermobility, Ventricular septal ... OMIM:618870
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Hip dislocation, Absent radius, Aplasia/hypoplasia of the humerus, Tetralogy of Fallot... ORPHA:3320
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Scoliosis, Pulmonic stenosis, Atrial septal defect, Short neck, Kyphosis, Contracture of the prox... OMIM:618223
Cantú Syndrome
Short distal phalanx of finger, Abnormal metaphysis morphology, Ovoid vertebral bodies, Short nec... ORPHA:1517
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Vertebral segmentation defect, Short neck ORPHA:2578
Juberg-Hayward Syndrome
Scoliosis, Short thumb, Abnormal finger morphology, Abnormal metacarpal morphology, Abnormal rib ... ORPHA:2319
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Asymmetry of spinal facet joints, Sacral dimple, Anencephaly, Ab... OMIM:182940
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Hemivertebrae, Patent ductus arterio... ORPHA:77298
Meacham Syndrome
Situs inversus totalis, Conotruncal defect, Coarctation of aorta, Hypoplastic left heart, Tetralo... ORPHA:3097
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Hypoplastic left heart, Ventricular septal defect ORPHA:2772
Coenzyme Q10 Deficiency, Primary, 7
Scoliosis, Hypoplastic left heart, Ventricular septal defect, Patent ductus arteriosus, Hypertrop... OMIM:616276
Fetal Minoxidil Syndrome
Umbilical hernia, Clinodactyly of the 5th finger, Ventricular septal defect ORPHA:1918
Mosaic Trisomy 14
Abnormal rib morphology, Camptodactyly of finger, Narrow chest, Short neck ORPHA:1703
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Metaphyseal chondrodysplasia, Hydrocephalus, Thin ribs, Death in infancy, Platyspondyly, Short pa... ORPHA:163966
Lymphangiectasia, Intestinal
Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs OMIM:152800
Camptodactyly Syndrome, Guadalajara Type 1
Pectus excavatum, Short distal phalanx of finger, Camptodactyly of finger, Hallux valgus, Spina b... ORPHA:1327
Alagille Syndrome
Short distal phalanx of finger, Ventricular septal defect, Atrial septal defect, Peripheral pulmo... ORPHA:52
Joubert Syndrome 18
Camptodactyly, Ventricular septal defect, Postaxial polydactyly, Trident pelvis, Occipital enceph... OMIM:614815
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Ectopia cordis, Patent ductus arteriosus, Transposition of the great ... OMIM:313850
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Abnormal hip bone morphology, Abnormal aortic mor... ORPHA:1166
Poland Syndrome
Scoliosis, Abnormality of the humerus, Absent hand, Atrial septal defect, Asymmetry of the thorax... ORPHA:2911
Heterotaxy, Visceral, 5, Autosomal
Pulmonary artery atresia, Dextrocardia, Coarctation of aorta, Double inlet left ventricle, Atrial... OMIM:270100
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Atrial septal defect, Aortic aneurysm, Ventricular septal defect, Abnormal heart morphology, Over... ORPHA:477817
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Mesocardia, Dextrocardia, Atrioventricular canal defect, Bilateral superi... OMIM:605376
Simpson-Golabi-Behmel Syndrome, Type 1
Short distal phalanx of finger, Scoliosis, Short greater sciatic notch, Six lumbar vertebrae, Ven... OMIM:312870
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Fountain Syndrome
Pectus excavatum, Scoliosis, Erythema, Short distal phalanx of finger, Spina bifida, Kyphosis, Ab... ORPHA:3219
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Short neck, Aplasia/Hypoplasia of fingers, Kyphosis, Abnormal epiphysis morphology, Abnormal rib ... ORPHA:3082
Feingold Syndrome 2
Short thumb, Ventricular septal defect, Short middle phalanx of the 5th finger, Short middle phal... OMIM:614326
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Butterfly vertebrae, Postaxial foot polydactyly, Pulmonic stenosis, Ven... OMIM:301056
Cardiofaciocutaneous Syndrome 3
Pectus excavatum, Scoliosis, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, ... OMIM:615279
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Short distal phalanx of finger, Scoliosis, Atrial septal defect, Mesoaxial foot polydactyly, Peri... OMIM:612474
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Coat hanger sign of ribs, Ventricular septal defect, Umbilical hernia, Abnor... ORPHA:254534
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Coarctation of aorta, Ventricular s... ORPHA:99125
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal cupping, Flattened epiphysis, Pear-shaped vertebrae, Irregular sclerotic ... OMIM:602111
Feingold Syndrome Type 2
Short thumb, Ventricular septal defect, Short middle phalanx of finger, Toe syndactyly, Brachydac... ORPHA:391646
Spinal Muscular Atrophy, Type I
Atrial septal defect, Death in childhood, Ventricular septal defect OMIM:253300
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Death in childhood, Pulmonary artery atresia, Left superior vena cava draining directly to the le... OMIM:613759
Restrictive Dermopathy
Short umbilical cord, Camptodactyly of finger, Dextrocardia, Atrial septal defect, Thin ribs, Tho... ORPHA:1662
Mesoaxial Hexadactyly And Cardiac Malformation
Hand polydactyly, Abnormal 3rd finger morphology, Pulmonic stenosis, Atrial septal defect, Ventri... OMIM:249670
Aortic Valve Disease 1
Ventricular septal defect, Mitral atresia, Tetralogy of Fallot, Bicuspid aortic valve, Double out... OMIM:109730
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Scoliosis, Metaphyseal cupping, Metaphyseal irregularity, Brachydactyly, Coxa vara, Metaphyseal w... OMIM:250420
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormal rib morphology, Hemivertebrae, Short neck ORPHA:2234
Wolf-Hirschhorn Syndrome
Scoliosis, Hip dislocation, Hip dysplasia, Short thumb, Ventricular septal defect, Atrial septal ... OMIM:194190
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Hypoplastic ilia, Lateral clavicle hook, Ventricular septal... OMIM:617895
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Encephalocele, Pulmonary artery atresia, Spinal dysraphism, Tetralogy of ... ORPHA:1908
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Hydrocephalus, Postaxial polydactyly, Kyphosis, ... OMIM:603387
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Scoliosis, Short tibia, Small finger, Flared iliac wing, Radial b... OMIM:607778
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Pectus excavatum, Camptodactyly, Tetralogy of Fallot, Ventricular septal defect, Umbilical hernia... OMIM:280000
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Short neck, Coronal cleft vertebrae, Short ribs, Hypoplastic vertebral bodies, ... ORPHA:2347
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Scoliosis, Umbilical hernia, Thickened ribs, Ovoid thoracolumbar v... OMIM:252900
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Ventricular septal defect, Short ribs, Broad ribs, Abnormal rib morphology,... ORPHA:2519
Heterotaxy, Visceral, 8, Autosomal
Pulmonary artery atresia, Dextrocardia, Atrial situs ambiguous, Hypoplastic left heart, Congenita... OMIM:617205
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Scoliosis, Anterior encephalocele, Ventricular septal defect, Holoprosencephal... OMIM:601357
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of fibula morphology, Aqueductal stenosis, Lower limb undergrowth, Abnormal rib morph... ORPHA:3035
Acropectorovertebral Dysplasia
Camptodactyly of finger, Pectus excavatum, Short distal phalanx of finger, Spina bifida, Finger s... ORPHA:957
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Scoliosis, Hip dysplasia, Clinodactyly of the 2nd finger, Ventricular septal defect, Short neck, ... OMIM:620073
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Bifid sternum, Coarctation of aorta, Right aortic arch OMIM:140850
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Achondrogenesis Type 1A
Short neck, Umbilical hernia, Narrow chest, Short palm, Short thorax, Multiple rib fractures, Sho... ORPHA:93299
Cole-Carpenter Syndrome
Scoliosis, Abnormal metaphysis morphology, Communicating hydrocephalus, Bowing of the long bones,... ORPHA:2050
Joubert Syndrome 15
Exencephaly, Preaxial polydactyly OMIM:614464
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Scoliosis, Thoracic kyphoscoliosis ORPHA:98913
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormal hip bone morphology, Slender long bone, Abnormal rib morphology, Abnormal fo... ORPHA:1486
Vacterl Association With Hydrocephalus
Radial club hand, Hydrocephalus, Abnormality of the vertebral column, Aqueductal stenosis, Abnorm... OMIM:276950
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Short neck, Abnormality of limb bone morphology, Abnormal rib morphology, Abnormal ver... OMIM:118100
Cartilage-Hair Hypoplasia
Metaphyseal chondrodysplasia, Scoliosis, Abnormal diaphysis morphology, Cardiomyopathy, Biconvex ... ORPHA:175
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Metaphyseal cupping of metacarpals, Peg-like central prominence of distal tibial metaphyses, Shor... OMIM:300232
Holoprosencephaly 13, X-Linked
Thoracic hemivertebrae, Butterfly vertebrae, Hypoplastic left heart, Ventricular septal defect, S... OMIM:301043
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Scoliosis, Short thumb, Carpal synostosis, Flared iliac wing, Fibular ap... ORPHA:90652
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot ORPHA:217
Craniodiaphyseal Dysplasia, Autosomal Dominant
Diaphyseal sclerosis, Thickened ribs, Death in adolescence OMIM:122860
Zttk Syndrome
Scoliosis, Ventricular septal defect, Atrial septal defect, Kyphosis, Hemivertebrae, Patent ductu... OMIM:617140
Trisomy 13
Scoliosis, Atrial septal defect, Ventricular septal defect, Ectrodactyly, Kyphosis, Abnormal rib ... ORPHA:3378
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal rib morphology, Abnormal pelvic girdle bone morphology... ORPHA:2097
Carpenter Syndrome 2
Situs inversus totalis, Atrial septal defect, Broad thumb, Cutaneous finger syndactyly, Brachydac... OMIM:614976
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Tarp Syndrome
Clinodactyly, Pectus excavatum, Scoliosis, Hand polydactyly, Tetralogy of Fallot, Atrial septal d... ORPHA:2886
Contractural Arachnodactyly, Congenital
Camptodactyly, Scoliosis, Ulnar deviation of finger, Aortic root aneurysm, Ventricular septal def... OMIM:121050
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Down Syndrome
Clinodactyly, Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Ventricul... OMIM:190685
Baller-Gerold Syndrome
Oligodactyly, Scoliosis, Aplasia of metacarpal bones, Abnormal heart morphology, Aphalangy of the... OMIM:218600
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia, Cervical ribs, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Missing ribs, Hemivertebrae, Abnormal rib morphology, Arac... ORPHA:2759
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Communicating hydrocephalus, Patent ductus arteriosus, Abnormal thorax morph... ORPHA:2184
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Short neck, Broad ribs, Overriding aorta, Short long bone, Narrow ches... OMIM:617022
Hemihyperplasia, Isolated
Scoliosis, Myelomeningocele OMIM:235000
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Pectus excavatum, Scoliosis, Camptodactyly, Aortic root aneurysm, Atrial septal defect, Ventricul... OMIM:301039
Achondrogenesis, Type Ia
Beaded ribs, Short thorax, Short neck, Short ribs, Flaring of rib cage, Hypoplasia of the radius,... OMIM:200600
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Scoliosis, Ventricular septal defect ORPHA:357225
Becker Nevus Syndrome
Hemivertebrae, Pectus excavatum, Scoliosis, Cervical ribs OMIM:604919
Fibrochondrogenesis
Camptodactyly of finger, Abnormal metaphysis morphology, Short neck, Abnormal diaphysis morpholog... ORPHA:2021
Pseudotrisomy 13 Syndrome
Encephalocele, Postaxial foot polydactyly, Dextrocardia, Coarctation of aorta, Ventricular septal... OMIM:264480
Spondylometaphyseal Dysplasia, Algerian Type
Lumbar hyperlordosis, Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral ... OMIM:184253
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Short toe, Patent foramen ovale, Bowing of the legs, Brachydactyly, Ho... OMIM:269860
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Thoracic hypoplasia, Beaded ribs, Fractured radius, Decreased fibular diameter, Short neck, Ventr... OMIM:616897
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida, Cyanosis OMIM:207950
Limb Body Wall Complex
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Cutaneous finger synd... ORPHA:2369
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Pectus excavatum, Hypoplastic distal segments of scapulae OMIM:602196
Mucopolysaccharidosis Type 6
Abnormal metaphysis morphology, Ovoid vertebral bodies, Short neck, Broad ribs, Abnormal heart va... ORPHA:583
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Achondrogenesis, Type Ii
Horizontal ribs, Short ribs, Broad long bones, Hypoplastic iliac wing, Stillbirth, Short tubular ... OMIM:200610
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip dislocation, Ventricular septal defect, Atrial septal defect, Advanced ossification of carpal... OMIM:271640
8P23.1 Duplication Syndrome
Toe syndactyly, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect ORPHA:251076
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Horizontal inferior border of scapula, Atrial septal defect, Metaphyseal cupping, Sh... OMIM:250220
Kagami-Ogata Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Long clavicles, Thin ribs, Co... OMIM:608149
Caudal Duplication
Abnormal sacrum morphology, Myelomeningocele, Spina bifida, Vertebral segmentation defect, Bifid ... ORPHA:1756
Meckel Syndrome 14
Postaxial foot polydactyly, Short neck, Postaxial polydactyly, Occipital encephalocele, Holoprose... OMIM:619879
Vacterl/Vater Association
Abnormal sacrum morphology, Occipital encephalocele, Finger syndactyly, Anencephaly, Abnormal rib... ORPHA:887
Lateral Meningocele Syndrome
Pectus excavatum, Scoliosis, Vertebral fusion, Short neck, Ventricular septal defect, Aortic aneu... OMIM:130720
Enlarged Parietal Foramina
Myelomeningocele, Abnormal cerebral vein morphology, Occipital encephalocele, Short clavicles, Br... ORPHA:60015
Noonan Syndrome 8
Palmoplantar cutis laxa, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Shor... OMIM:615355
Czeizel-Losonci Syndrome
Dextrocardia, 2-3 finger syndactyly, 3-4 finger syndactyly, Myelomeningocele, Thoracolumbar scoli... ORPHA:2437
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Hydrocephalus, Patent ductus arteriosus, Atrial septal defect OMIM:614886
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Hip dysplasia, Anterior wedging of L1, Cardiomyopathy, Flared iliac wing, Me... OMIM:253200
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Pectus excavatum, Scoliosis, Atrial septal defect, Ventricular septal defect, Umbilical hernia, S... ORPHA:329224
Hurler Syndrome
Camptodactyly of finger, Scoliosis, Narrow pelvis bone, Short neck, Hydrocephalus, Abnormal diaph... ORPHA:93473
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic v... OMIM:616652
Cleidocranial Dysplasia
Down-sloping shoulders, Abnormal sacrum morphology, Scoliosis, Hypoplastic inferior ilia, Hypopla... ORPHA:1452
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Butterfly vertebrae, Short lower limbs, Short neck, Coronal cleft vertebrae... OMIM:620076
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Pectus excavatum, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Lateral Meningocele Syndrome
Pectus excavatum, Scoliosis, Short neck, Ventricular septal defect, Umbilical hernia, Meningocele... ORPHA:2789
Greenberg Dysplasia
Absent or minimally ossified vertebral bodies, Long clavicles, Metaphyseal cupping, Absent distal... OMIM:215140
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Death in childhood, Ventricular septal defect, Short neck, Umbilical hernia, Hydrocephalus, Paten... OMIM:612938
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Osteogenesis Imperfecta, Type Ii
Thoracic hypoplasia, Beaded ribs, Thin ribs, Broad long bones, Crumpled long bones, Platyspondyly... OMIM:166210
Chromosome 6Pter-P24 Deletion Syndrome
Pectus excavatum, Hip dysplasia, Ventricular septal defect, Tetralogy of Fallot, Atrial septal de... OMIM:612582
Triploidy
Hydrocephalus, Meningocele, Short neck, Finger syndactyly, Holoprosencephaly, Narrow chest, Abnor... ORPHA:3376
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Camptodactyly, Spina bifida OMIM:211960
Ellis-Van Creveld Syndrome
Horizontal ribs, Postaxial foot polydactyly, Cone-shaped epiphyses of phalanges 2 to 5, Atrial se... OMIM:225500
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thoracic hypoplasia, Scoliosis, Central vertebral hypoplasia, Short neck, Metaphyseal widening, G... ORPHA:93352
Oculoauriculofrontonasal Syndrome
Encephalocele, Scoliosis, Ventricular septal defect ORPHA:398156
Tetrasomy 5P
Pectus excavatum, Hydrocephalus, Short neck, Overlapping toe, Long fingers, Short hallux, Cyanosi... ORPHA:3309
Pallister-Hall Syndrome
Oligodactyly, Hip dislocation, Ventricular septal defect, Atrial septal defect, Atrioventricular ... ORPHA:672
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Thoracic dysplasia, Lateral clavicle hook, Ventricular septal defect, Preaxial polydactyly, Short... OMIM:615503
King-Denborough Syndrome
Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Short neck, Ventricular septal defect, Kyphos... OMIM:619542
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Postaxial hand polydactyly, Hydrocephalus, Ventricular septal... ORPHA:83473
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Short neck, Hydrocephalus, Missing ribs, Abnormal rib morphology, Abnormal pelvic gird... ORPHA:1834
Acro-Renal-Mandibular Syndrome
Scoliosis, Butterfly vertebrae, Hip dislocation, Short neck, Thin ribs, Hypoplastic scapulae, Kyp... ORPHA:958
Acromesomelic Dysplasia 4
Prominent deltoid tuberosities, Short metatarsal, Broad finger, Short toe, Metaphyseal irregulari... OMIM:619636
Campomelia, Cumming Type
Abnormal thorax morphology, Bowing of the long bones, Death in infancy, Abnormal rib morphology, ... ORPHA:1318
Buerger Disease
Vasculitis, Acrocyanosis ORPHA:36258
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Short thumb, Tetralogy of Fallot, Atrial septal defect, Ventricular septal defec... OMIM:274000
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Camptodactyly, Scoliosis, Vertebral fusion, Short neck, Ventricular septal defect, Spondylolisthe... OMIM:178110
Isolated Right Ventricular Hypoplasia
Clubbing, Atrial septal defect, Hypoxemia, Right atrial enlargement, Muscular ventricular septal ... ORPHA:439
Congenital Heart Defects, Multiple Types, 2
Ventricular septal defect, Aortic aneurysm, Tetralogy of Fallot, Subvalvular aortic stenosis, Bic... OMIM:614980
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Toe clinodactyly, Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Mosaic Trisomy 9
Camptodactyly of finger, Scoliosis, Dextrocardia, Hip dislocation, Ventricular septal defect, Sho... ORPHA:99776
Trisomy 1Q
Camptodactyly of finger, Hydrocephalus, Ventricular septal defect, Abnormal rib morphology, Toe s... ORPHA:261344
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Meckel Syndrome, Type 4
Encephalocele, Atrial septal defect, Meningocele, Ventricular septal defect, Hydrocephalus, Anenc... OMIM:611134
Craniorachischisis
Sirenomelia, Spinal dysraphism, Bifid sternum, Cervical spina bifida, Myelomeningocele, Anencephaly ORPHA:63260
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect, Irregular vertebral endplates, Short dig... OMIM:616651
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252920
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial septal defect, B... OMIM:618719
Mmep Syndrome
Split foot, Triphalangeal thumb, Ventricular septal defect ORPHA:3434
Fibular Hemimelia
Oligodactyly, Short tibia, Abnormal heart morphology, Toe syndactyly, Short toe, Fibular aplasia,... ORPHA:93323
Microcephaly-Cardiomyopathy Syndrome
Sandal gap, Clinodactyly of the 5th finger, Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Metaphyseal chondrodysplasia, Short metacarpal, Abnormal scapula morphology, Platysp... ORPHA:93317
Osteogenesis Imperfecta, Type Xvi
Beaded ribs, Bruising susceptibility, Vertebral compression fracture, Platyspondyly, Short long b... OMIM:616229
Three M Syndrome 2
Lumbar hyperlordosis, Short neck, Thin ribs, Slender long bone, Scapular winging, Prominent calca... OMIM:612921
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... ORPHA:2326
Lambert Syndrome
Branchial anomaly, Jaundice, Ventricular septal defect ORPHA:1296
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Pulmonary artery atresia, Coarctation of aorta, Hypoplastic left heart, Supravalvar pulmonary ste... OMIM:618164
Multiple Pterygium Syndrome, X-Linked
Short finger, Vertebral fusion, Abnormal cervical curvature, Thin ribs, Hypoplastic heart OMIM:312150
Nail-Patella Syndrome
Thickening of the lateral border of the scapula, Pectus excavatum, Scoliosis, Lumbar hyperlordosi... OMIM:161200
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the vertebral column, Abnormal rib morphology, Sprengel anomaly OMIM:601076
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Metaphyseal cupping, Bowed humerus, Metaphyseal irregularity, Short 5th metacarpal, Radial bowing... OMIM:618019
Pagod Syndrome
Situs inversus totalis, Encephalocele, Hypoplastic left heart, Spina bifida, Meningocele, Death i... ORPHA:991
Dextrocardia
Situs inversus totalis, Dextrocardia, Congenital hip dislocation, Congenital malformation of the ... ORPHA:1666
Mucopolysaccharidosis, Type Iiic
Asymmetric septal hypertrophy, Thickened ribs, Beaking of vertebral bodies, Kyphoscoliosis, Ovoid... OMIM:252930
Cenani-Lenz Syndrome
Oligodactyly, Foot oligodactyly, Scoliosis, Hip dislocation, Short thumb, Finger syndactyly, Syno... ORPHA:3258
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ascending aorta hypoplasia, Hypoplastic left heart, Ventricular septal defect, Hypoplastic aortic... OMIM:619503
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Atrial septal defect, Postaxial polydactyly, Ventricular septal defect, P... OMIM:615996
3P25.3 Microdeletion Syndrome
Congenital pseudoarthrosis of the clavicle, Scoliosis, 2-3 finger syndactyly, Pulmonic stenosis, ... ORPHA:435638
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Scoliosis, Short thumb, Tetralogy of Fallot, Ventricular septal de... OMIM:612562
Codas Syndrome
Scoliosis, Congenital hip dislocation, Ventricular septal defect, Coronal cleft vertebrae, Abnorm... ORPHA:1458
Larsen Syndrome
Spondylolysis, Pectus excavatum, Scoliosis, Vertebral fusion, Hip dislocation, Spatulate thumbs, ... OMIM:150250
Maternal Phenylketonuria
Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Abn... ORPHA:2209
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal spurs, Scoliosis, Hypoplastic ilia, Ivory epiphyses, Ovoid vertebral bodies, Femoral ... ORPHA:85167
Developmental Delay, Language Impairment, And Ocular Abnormalities
Scoliosis, Pulmonic stenosis, Myelomeningocele, Contracture of the proximal interphalangeal joint... OMIM:620141
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
Sifrim-Hitz-Weiss Syndrome
Coarctation of aorta, Tetralogy of Fallot, Atrial septal defect, Ventricular septal defect, Flat ... OMIM:617159
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Down-sloping shoulders, Scoliosis, Ventricular septal defect, Atrial septal defect, Short neck, O... OMIM:617452
Wildervanck Syndrome
Fused cervical vertebrae, Meningocele, Short neck ORPHA:3456
Restrictive Dermopathy 2
Cyanosis, Short clavicles, Overtubulated long bones OMIM:619793
Dysosteosclerosis
Abnormal metaphyseal trabeculation, Irregular vertebral endplates, Short ribs, Hypoplastic verteb... OMIM:224300
Campomelic Dysplasia
Scoliosis, Shortening of all phalanges of the toes, Hip dislocation, Thin ribs, Abnormal heart mo... OMIM:114290
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Tetralogy of Fallot, Lobar holoprosencephaly, Syndactyly, Clinodactyly of the 5th finger, Hemiver... OMIM:614701
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Hydrocephalus, Ventricular septal defect, Syndactyly, Cutis marmorata OMIM:602501
Multiple Pterygium Syndrome, Lethal Type
Short finger, Vertebral fusion, Abnormal cervical curvature, Thin ribs, Hypoplastic heart OMIM:253290
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Craniofaciofrontodigital Syndrome
Stroke, Abnormal cerebral vascular morphology, Scoliosis, Coarctation of aorta, Palmoplantar cuti... ORPHA:363705
Osteogenesis Imperfecta, Type X
Death in childhood, Thoracic hypoplasia, Scoliosis, Bowing of the long bones, Broad ribs, Thin ri... OMIM:613848
Focal Dermal Hypoplasia
Camptodactyly of finger, Scoliosis, Erythema, Hypoplastic pelvis, Hand polydactyly, Ventricular s... ORPHA:2092
Weill-Marchesani Syndrome 1
Broad metatarsal, Scoliosis, Lumbar hyperlordosis, Broad phalanges of the hand, Pulmonic stenosis... OMIM:277600
Spondylo-Ocular Syndrome
Thoracic kyphosis, Ventricular septal defect, Short neck, Platyspondyly, Abnormal intervertebral ... ORPHA:85194
Pericardial And Diaphragmatic Defect
Pectus excavatum, Tetralogy of Fallot, Atrial septal defect, Hypoxemia, Abnormal heart morphology... ORPHA:2847
Osteogenesis Imperfecta, Type Xviii
Umbilical hernia, Thin ribs, Vertebral compression fracture, Femoral bowing, Biconcave vertebral ... OMIM:617952
Hypophosphatasia
Abnormal rib morphology, Narrow chest, Abnormal metaphysis morphology, Bowing of the long bones ORPHA:436
Shprintzen-Goldberg Craniosynostosis Syndrome
Pectus excavatum, Scoliosis, Camptodactyly, Lateral clavicle hook, Hydrocephalus, Aortic aneurysm... OMIM:182212
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Camptodactyly of finger, Scoliosis, Carpal synostosis, Interphal... OMIM:305620
Atrial Septal Defect 2
Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Atrioventricula... OMIM:607941
Waardenburg Syndrome Type 1
Scoliosis, Spina bifida, Meningocele, Premature graying of hair, Sprengel anomaly ORPHA:894
Infantile-Onset X-Linked Spinal Muscular Atrophy
Short ribs, Hip contracture, Interphalangeal joint contracture of finger, Cupped ribs, Kyphoscoli... ORPHA:1145
Cardiac Valvular Dysplasia 1
Mitral stenosis, Pulmonary artery atresia, Hypoplasia of right ventricle, Double inlet left ventr... OMIM:212093
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Dextrocardia, Hypoxemia, Patellar hypoplasia, Abnormal pulmonary a... ORPHA:2257
Otopalatodigital Syndrome, Type Ii
Spondylolysis, Short thumb, Atrial septal defect, Short metatarsal, Rocker bottom foot, Toe synda... OMIM:304120
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hypoxemia, Right atrial en... ORPHA:555874
Congenital Pulmonary Lymphangiectasia
Cyanosis, Chylopericardium, Pulmonic stenosis ORPHA:2414
Acalvaria
Postaxial hand polydactyly, Holoprosencephaly, Hydrocephalus, Spina bifida ORPHA:945
Osteogenesis Imperfecta, Type Iii
Scoliosis, Thin ribs, Kyphosis, Slender long bone, Protrusio acetabuli, Biconcave vertebral bodie... OMIM:259420
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal hip bone morphology, Abnormal rib morphology, Pectus carinatum, Hyperlordosis, Clinodact... ORPHA:3068
Charge Syndrome
Secundum atrial septal defect, Scoliosis, Right aortic arch, Tetralogy of Fallot, Ventricular sep... OMIM:214800
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short distal phalanx of finger, Scoliosis, Camptodactyly of finger, Ventricular septal defect, Fl... OMIM:143095
Galloway-Mowat Syndrome 7
Pectus excavatum, Hallux valgus, Ventricular septal defect, Partial duplication of thumb phalanx,... OMIM:618348
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Scoliosis, Ventricular septal defect, Umbilical hernia, Abnormal heart morphology, Bicuspid aorti... ORPHA:500159
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pectus excavatum, Scoliosis, Atrial septal defect, Ventricular septal defect, Kyphosis, Scapular ... OMIM:617061
Grange Syndrome
Ventricular septal defect, Syndactyly, Short palm, Patent ductus arteriosus, Arterial stenosis ORPHA:79094
Wolcott-Rallison Syndrome
Double outlet right ventricle, Jaundice, Metaphyseal dysplasia, Atrial septal defect ORPHA:1667
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Horizontal ribs, Coarctation of aorta, Atrial septal defect, Bell-shaped thorax, Patent ductus ar... OMIM:614857
Noonan Syndrome 4
Pectus excavatum, Scoliosis, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, ... OMIM:610733
Ivic Syndrome
Short 1st metacarpal, Scoliosis, Absent thumb, Short thumb, Tetralogy of Fallot, Preaxial polydac... OMIM:147750
Congenital Fibrinogen Deficiency
Bruising susceptibility, Left ventricular hypertrophy, Right ventricular hypertrophy, Clubbing of... ORPHA:335
Noonan Syndrome 2
Pectus excavatum, Coarctation of aorta, Palmoplantar cutis laxa, Pulmonic stenosis, Ventricular s... OMIM:605275
Breath-Holding Spells
Cyanosis OMIM:607578
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Short neck, Short ribs, Hydrocephalus, Preaxial polydactyly, Postaxial poly... OMIM:616546
Asbestos Intoxication
Hypoxemia, Clubbing of fingers, Cor pulmonale, Myocardial fibrosis, Cyanosis, Oxygen desaturation... ORPHA:2302
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Finger syndactyly, Split hand, Brachydactyly ORPHA:2145
Fanconi Anemia, Complementation Group B
Coarctation of aorta, Ventricular septal defect, Short neck, Hydrocephalus, Death in infancy, Pat... OMIM:300514
Viss Syndrome
Scoliosis, Hip dislocation, Hip dysplasia, Left aortic arch with retroesophageal right subclavian... OMIM:619472
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Horizontal ribs, Lateral clavicle hook, Long thorax, Tetralogy of Fallot, Short neck, Short ribs,... OMIM:617925
Hadziselimovic Syndrome
Pulmonary artery atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, V... OMIM:612946
Renpenning Syndrome
Pectus excavatum, Abnormal rib morphology, Sprengel anomaly, Abnormal thumb morphology, Clinodact... ORPHA:3242
Congenital Heart Defects And Skeletal Malformations Syndrome
Pectus excavatum, Scoliosis, Coarctation of aorta, Camptodactyly, Aortic root aneurysm, Atrial se... OMIM:617602
Mucolipidosis Iii Alpha/Beta
Scoliosis, Short ribs, Broad ribs, Short long bone, Shallow acetabular fossae, Carpal bone hypopl... OMIM:252600
Recombinant 8 Syndrome
Pectus excavatum, Scoliosis, Camptodactyly of finger, Patellar aplasia, Atrial septal defect, Tet... ORPHA:96167
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal common carotid artery morphology, Lumbar hyperlordosis, Atrial septal defect, Ischemic s... ORPHA:500150
Infant Acute Respiratory Distress Syndrome
Cyanosis, Abnormal thorax morphology, Hypoxemia ORPHA:70587
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Thoracic dysplasia, Horizontal ribs, Lateral clavicle hook, Atrial septal defect, Ventricular sep... OMIM:263520
Pelger-Huet Anomaly
Polydactyly, Ventricular septal defect, Umbilical hernia, Short 4th metacarpal, Kyphosis, Short 3... OMIM:169400
Cole-Carpenter Syndrome 2
Pectus excavatum, Hydrocephalus, Thin ribs, Kyphosis, Platyspondyly, Narrow iliac wing OMIM:616294
Mosaic Trisomy 16
Coarctation of aorta, Short thumb, Atrial septal defect, Ventricular septal defect, Syndactyly, S... ORPHA:1708
Congenital Myasthenic Syndrome
Congenital hip dislocation, Spinal rigidity, Pectus carinatum, Cyanosis, Neuropathic spinal arthr... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Spinal rigidity, Pectus carinatum, Cyanosis, Neuropathic spinal arthr... ORPHA:98914
Opsismodysplasia
Scoliosis, Short neck, Metaphyseal cupping, Flat acetabular roof, Hypoplastic vertebral bodies, S... OMIM:258480
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Scoliosis, Coarctation of aorta, Hip dysplasia, Atrial septal defect, Ventricular septal defect, ... OMIM:618494
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Horizontal ribs, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Flat ace... OMIM:616300
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atrial septal defect, Abnormal finger morphology, Synostosis of carpal b... ORPHA:896
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Pectus excavatum, Scoliosis, Ventricular septal defect, Short neck, Patent ductus arteriosus ORPHA:52055
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal spurs, Thoracic hypoplasia, Horizontal ribs, Scoliosis, Lateral clavicle hook, Absent... OMIM:613091
Noonan Syndrome 10
Pectus excavatum, Scoliosis, Coarctation of aorta, Palmoplantar cutis laxa, Pulmonic stenosis, Ve... OMIM:616564
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Osteogenesis Imperfecta
Scoliosis, Abnormal long bone morphology, Thin ribs, Diaphyseal thickening, Multiple rib fracture... ORPHA:666
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Flared iliac wing, Metaphyseal irregularity, Posterior rib cupping, Cone-shaped... OMIM:300106
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Atrial septal defect, Ventricular septal defect, ... ORPHA:216694
Multiple Synostoses Syndrome 1
Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Cutaneous finge... OMIM:186500
Chromosome 1Q41-Q42 Deletion Syndrome
Pectus excavatum, Scoliosis, Ventricular septal defect, Holoprosencephaly, 3-4 finger cutaneous s... OMIM:612530
Kury-Isidor Syndrome
Scoliosis, Hip dysplasia, Ventricular septal defect, Short neck, Proximal placement of thumb, Fin... OMIM:619762
Duane-Radial Ray Syndrome
Short humerus, Scoliosis, Absent radius, Short thumb, Atrial septal defect, Ventricular septal de... OMIM:607323
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Hip dislocation, Ventricular septal defect, Tetralogy of Fallot, Urticaria, Toe syndac... OMIM:154400
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Short neck ORPHA:284417
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Jansen-De Vries Syndrome
Ventricular septal defect, Hyperlordosis, Bicuspid aortic valve, Small hand, Short foot, Brachyda... OMIM:617450
Hyperparathyroidism, Transient Neonatal
Metaphyseal spurs, Stroke, Communicating hydrocephalus, Short ribs, Umbilical hernia, Thin ribs, ... OMIM:618188
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patellar hypoplasia, Patent foramen ovale, Paten... OMIM:619189
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Neonatal death, Ventricular septal defect OMIM:615524
Mosaic Trisomy 20
Dysplastic tricuspid valve, Down-sloping shoulders, Clinodactyly, Scoliosis, Vertebral fusion, Ve... ORPHA:1724
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Neural tube defect OMIM:600776
Waardenburg Syndrome, Type 1
Supernumerary vertebrae, Myelomeningocele, Spina bifida, Premature graying of hair, Supernumerary... OMIM:193500
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Camptodactyly, Pulmonic stenosis, Ventricular septal defect, Overlapping toe, Atrial septal defec... OMIM:614262
Shwachman-Diamond Syndrome 1
Enlargement of the costochondral junction, Metaphyseal chondrodysplasia, Metaphyseal sclerosis, O... OMIM:260400
Fucosidosis
Kyphosis, Anterior beaking of lumbar vertebrae, Cardiomegaly, Vascular skin abnormality, Acrocyan... ORPHA:349
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Ventricular septal defect, Atrial septal defect, Long clavicles, Short tibia, Abnormal... ORPHA:96334
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Scoliosis, Camptodactyly of finger, Camptodactyly, Atrial septal ... OMIM:300963
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Thoracic hypoplasia, Aplasia/Hypoplasia involving bones of the thorax, Early ossification of capi... ORPHA:397715
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Clino... OMIM:618974
Steinfeld Syndrome
Phocomelia, Abnormality of the vertebral column, Missing ribs, Holoprosencephaly, Aplasia/Hypopla... OMIM:184705
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect OMIM:614432
Diamond-Blackfan Anemia 6
Short thumb, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Ventricular hy... OMIM:612561
Digeorge Syndrome
Scoliosis, Ventricular septal defect, Tetralogy of Fallot, Right aortic arch with mirror image br... OMIM:188400
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short distal phalanx of finger, Abnormal diaphysis morphology, Triangular shaped distal phalanges... ORPHA:73230
Holoprosencephaly 14
Hydrocephalus, Ventricular septal defect, Aqueductal stenosis, Alobar holoprosencephaly, Holopros... OMIM:619895
C Syndrome
Postaxial foot polydactyly, Scoliosis, Hip dislocation, Ulnar deviation of finger, Ventricular se... OMIM:211750
X-Linked Intellectual Disability, Nascimento Type
Tetralogy of Fallot, Ventricular septal defect, Overlapping toe, Abnormal vena cava morphology, P... ORPHA:163956