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
Short thorax, Situs inversus totalis, Rib fusion, Hemivertebrae, Vertebral fusion, Dextrocardia, ... OMIM:613686
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Slender finger, Ve... OMIM:609813
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odon... OMIM:277300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Short thorax, Death in infanc... OMIM:618845
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Atrial septal defect, Narrow chest, Abnormal mitral valve morphology, Ab... ORPHA:1354
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Unilateral brachydactyly, Hemivertebrae, Dextrocardia, ... OMIM:173800
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Missing ribs, Spina bifida occulta,... ORPHA:1797
16P13.11 Microduplication Syndrome
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Pectus excavatum, Coarctation ... ORPHA:261243
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Congenital malformation of the great arteries, Stillbirth, A... ORPHA:294975
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Prominent sternum, Pectus excavatum, Short 5th metacarpal, Spondylolisthesis, Sandal gap, Pulmoni... OMIM:617877
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Camptodactyly of finger, Anomalous pulmonary venous return, Short thorax, Abnormal for... ORPHA:2311
Eng-Strom Syndrome
Scoliosis, Camptodactyly of finger, Ventricular septal defect, Pectus excavatum, Abnormal cardiac... ORPHA:1937
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Supernumerary ribs, Pectus carinatum, Hemivertebr... OMIM:122600
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the ribs, C... ORPHA:3268
Becker Nevus Syndrome
Scoliosis, Abnormality of tibia morphology, Pectus carinatum, Kyphosis, Pectus excavatum, Rib fus... ORPHA:64755
Basal Cell Nevus Syndrome
Scoliosis, Cardiac fibroma, Cardiac rhabdomyoma, Spina bifida, Short 4th metacarpal, Polydactyly,... OMIM:109400
Pyknoachondrogenesis
Stillbirth OMIM:265880
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Abnormality of the vertebral column, Ventricular septal defect, Sprengel... ORPHA:2345
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Posterior rib fusion, Preaxial hand polydactyly, Ventricular septal defect,... OMIM:608406
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Broad thumb, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of ... OMIM:612474
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Hemivertebrae, Pulmonic stenosis, Aortic valve s... OMIM:220210
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral morphology, Short humer... OMIM:314390
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Spinal dysraphism, Tetralogy of Fallot, Ve... ORPHA:1926
Femoral-Facial Syndrome
Scoliosis, Hip dysplasia, Short femur, Radioulnar synostosis, Sprengel anomaly, Preaxial foot pol... ORPHA:1988
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Cerebrofaciothoracic Dysplasia
Scoliosis, Narrow chest, Sprengel anomaly, Rib fusion, Hemivertebrae, Short neck, Vertebral segme... ORPHA:1394
Holt-Oram Syndrome
Scoliosis, Broad thumb, Split hand, Patent ductus arteriosus, Abnormality of the metacarpal bones... ORPHA:392
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal thorax morphology, Pulmonic... ORPHA:1461
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Hydranencephaly, Truncus arteriosus, Ventricular septal defect OMIM:601355
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Hypoplasia of the ulna, Neonatal death, Syndactyly OMIM:228940
Genitopalatocardiac Syndrome
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... OMIM:231060
Fetal Trimethadione Syndrome
Scoliosis, Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Transposition of... ORPHA:1913
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Postaxial polydactyly, Double outlet ... OMIM:217095
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Pectus c... OMIM:609052
Thymic Aplasia With Fetal Death
Truncus arteriosus, Stillbirth OMIM:274210
Metatropic Dysplasia
Scoliosis, Abnormality of the ribs, Camptodactyly of finger, Hypoplastic cervical vertebrae, Narr... ORPHA:2635
Carpenter Syndrome 1
Scoliosis, Flared iliac wing, Camptodactyly, Patent ductus arteriosus, Metatarsus adductus, Spina... OMIM:201000
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect, Abnormal aortic morphology, Short distal phalanx o... ORPHA:2516
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormality of the ribs, Anomalous pulmonary venous return, Atrial septal defect, Spina bifida, P... ORPHA:1120
8P23.1 Microdeletion Syndrome
Broad thumb, Enlarged thorax, Abnormal aortic morphology, Broad hallux phalanx, Patent ductus art... ORPHA:251071
Catel-Manzke Syndrome
Scoliosis, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Abnormality ... ORPHA:1388
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Recombinant Chromosome 8 Syndrome
Scoliosis, Atrial septal defect, Ventricular septal defect, Camptodactyly, Pectus excavatum, Pate... OMIM:179613
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, R... OMIM:184400
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Radial deviation of finger, Vertebral fusion, Clinodactyly, Syndac... OMIM:148050
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short iliac bones, Pectus carinatum, Kyphosis, Flattened proximal radial epiphyses, Ba... OMIM:271530
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Atrial septal defect, Postaxial hand polydactyly, Overlapping toe, Narrow chest, Beaki... OMIM:213980
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Scoliosis, Overlapping fingers, Atrial septal defect, Cutaneous syndactyly, Overlapping toe, Vent... OMIM:618316
Phaver Syndrome
Triphalangeal thumb, Abnormality of the ribs, Camptodactyly of finger, Broad thumb, Radioulnar sy... ORPHA:2876
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Narrow chest, Polydactyly, Horizo... ORPHA:1505
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Ventricular septal defect, Patent ductus arteriosus, Rib fusion, Hemiverteb... OMIM:206900
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abno... ORPHA:401935
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Emanuel Syndrome
Scoliosis, Atrial septal defect, Truncus arteriosus, Congenital hip dislocation, Ventricular sept... ORPHA:96170
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Cervical hemivertebrae, Broad thumb, Thoracic kyphosis, Short neck, Thoracic scoliosis, Preaxial ... ORPHA:508498
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Abnormalit... ORPHA:2790
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Abnormality of the ribs, Narrow chest, Ventricular s... ORPHA:93267
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Aicardi Syndrome
Scoliosis, Spina bifida, Bifid ribs, Rib fusion, Hemivertebrae, Block vertebrae, Proximal placeme... OMIM:304050
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Pectus carinatum, Thoracic kyphosis, Irregular vertebral e... OMIM:609223
Acropectorovertebral Dysplasia
Toe syndactyly, Spina bifida occulta at L5, Abnormal vertebral morphology, Synostosis of carpal b... OMIM:102510
Emanuel Syndrome
Scoliosis, Atrial septal defect, Truncus arteriosus, Congenital hip dislocation, Ventricular sept... OMIM:609029
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Cuti... OMIM:615297
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
22Q11.2 Duplication Syndrome
Scoliosis, Interrupted aortic arch, Ventricular septal defect, Hypoplastic left heart, Tetralogy ... ORPHA:1727
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Genu valgum, Metaphyseal irregularity, Ovoid vertebral bodies, Kyphosis... ORPHA:93315
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect, Foot oligodactyly, Syndactyly, Cutis marmorata, Br... OMIM:616589
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... ORPHA:3426
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Distal ulnar epiphyseal stippling, Broad toe, Beaking of vertebral bodi... OMIM:609616
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Clinodactyly, Short neck, Transposition of the great arteries OMIM:616789
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
White Forelock With Malformations
Atrial septal defect, Finger syndactyly, Sprengel anomaly, Spina bifida occulta, Abnormality of t... ORPHA:2475
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Short finger, Death in childhood, Tapered finger OMIM:302000
Thakker-Donnai Syndrome
Ventricular septal defect, Hemivertebrae, Cervical C2/C3 vertebral fusion, Tetralogy of Fallot, S... ORPHA:1780
Vater/Vacterl Association
Scoliosis, Spina bifida, Hypoplasia of the radius, Radioulnar synostosis, Abnormal vertebral morp... OMIM:192350
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Cone-shaped epiphysis, Rib fusion, Carpal synostosis, Pseudoepiphys... OMIM:157800
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Atrial septal defect, Hand polydactyly, Abnormal vertebral morphology, Abnormal heart ... ORPHA:261197
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia, Pulmonic stenosis, Clinoda... OMIM:618164
Femoral-Facial Syndrome
Scoliosis, Short fifth metatarsal, Dysplastic sacrum, Hemivertebrae, Preaxial hand polydactyly, T... OMIM:134780
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... ORPHA:185
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Split foot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Stillbirth, Pulmonic stenosis, Aortic valve stenosis,... OMIM:615415
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Neuralgic Amyotrophy
Acrocyanosis, Sprengel anomaly, Scapular winging ORPHA:2901
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Thoracic hypoplasia, Ovoid vertebral bodies, Irregular epiphyses, Narrow iliac win... OMIM:608728
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Ververi-Brady Syndrome
Scoliosis, Clinodactyly of the 5th finger, Transposition of the great arteries, Metaphyseal irreg... OMIM:617982
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Tetralogy of Fallot, Abnormal clavicle morphology ORPHA:276422
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finge... OMIM:607778
Thoracolaryngopelvic Dysplasia
Scoliosis, Hypoplastic pelvis, Horizontal ribs, Irregular vertebral endplates, Short ribs, Hypopl... OMIM:187760
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Aicardi Syndrome
Scoliosis, Hip dysplasia, Rib fusion, Small hand, Block vertebrae, Supernumerary ribs, Missing ri... ORPHA:50
Klippel-Feil Syndrome 2, Autosomal Recessive
Scoliosis, Ventricular septal defect, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short ne... OMIM:214300
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Desbuquois Syndrome
Scoliosis, Abnormal femoral neck/head morphology, Camptodactyly of finger, Radioulnar synostosis,... ORPHA:1425
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Camptodactyly of finger, Finger syndactyly, Abnormal sternum morphology, Pectus excava... ORPHA:2990
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Wide-cupped costochondra... OMIM:187601
Diaphanospondylodysostosis
Short thorax, Short neck, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnorma... ORPHA:66637
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Sandal gap, Ab... ORPHA:2180
Autosomal Recessive Robinow Syndrome
Scoliosis, Broad thumb, Split hand, Broad hallux phalanx, Death in infancy, Sandal gap, Short dis... ORPHA:1507
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Abnormal form of the vertebral bodies, Osteolysi... ORPHA:371428
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Toe syndactyly, Ventricular se... ORPHA:2008
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vertebral fusion, Thin... OMIM:271520
Noonan Syndrome 12
Ventricular septal defect, Pectus excavatum, Spinal canal stenosis, 11 pairs of ribs, Tetralogy o... OMIM:618624
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Wide-cupped costochondral junctions, Sh... OMIM:187600
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Stillbirth, Metaphysea... OMIM:269250
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
1P36 Deletion Syndrome
Scoliosis, Hip dysplasia, Camptodactyly of finger, Bifid ribs, Abnormal heart valve morphology, K... ORPHA:1606
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of fingers, Atrial septal defect, 2-3 toe syndactyly, Patent ductus arteriosus, Pulmonic... ORPHA:3304
Jeune Syndrome
Abnormal clavicle morphology, Abnormality of the ribs, Short thorax, Postaxial hand polydactyly, ... ORPHA:474
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, 2-3 toe syndactyly, Patent ductus arteriosus, Sacr... OMIM:617516
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Atrial septal defect, Transposition of the great arteries, Ventricular septal defect OMIM:270100
Rare Circulatory System Disease
Arterial tortuosity, Abnormal metatarsal morphology, Abnormality of finger, Thoracic kyphosis, Ar... ORPHA:98028
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Dextrocardia, Supernumerary ribs, Vertebral segmentation defect OMIM:221950
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Delayed pubic bone ossification, Anterior r... OMIM:184250
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Ventricular septal defect, Umbilical hernia, Abnormal hip bon... ORPHA:1488
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Short 4th metacarpal, Oligodactyly, Postaxial hand polydactyl... OMIM:146510
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Flared, irregular rib ends, Short palm ORPHA:168555
Primary Ciliary Dyskinesia
Anomalous pulmonary venous return, Situs inversus totalis, Abnormal heart morphology, Atrial situ... ORPHA:244
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Synostosis of carpal bones, Dumbbell-shaped humerus, ... ORPHA:1836
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Pectus carinatum, Pectus excavatum, Cervical ribs, Abnormality of the ... OMIM:609654
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Platyspondyly, Proximal femoral metaphyseal irregularity, Thoracic hypoplas... OMIM:602271
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Abnormality of the ribs, Genu valgum, Short metatarsal, Upper limb undergrowth, Hy... ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Platyspondyly, Genu valgum, Upper limb undergrowth, Short metatarsal, Pectus ... OMIM:271650
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Epiphyseal stippling, Death in infancy, Ventricular septal defect OMIM:614876
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Scoliosis, Atrial septal defect, Myocardial fibrosis, Holoprosencephaly, Pulmonic stenosis, Spina... OMIM:253800
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Short digit, Short neck,... OMIM:268310
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short phalanx of finger, Ventricular septal defect, Camptodactyly, Pectus e... OMIM:613458
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Rocker bottom foot, Dislocated radial head, Anterior clefting of vertebral bodies, Cam... OMIM:265000
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bo... OMIM:608940
Holt-Oram Syndrome
Secundum atrial septal defect, Patent ductus arteriosus, Partial duplication of thumb phalanx, Ab... OMIM:142900
Mucopolysaccharidosis, Type Vi
Hip dysplasia, Genu valgum, Metaphyseal widening, Prominent sternum, Broad ribs, Metaphyseal irre... OMIM:253200
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Neu-Laxova Syndrome 1
Rocker bottom foot, Spina bifida, Short umbilical cord, Toe syndactyly, Stillbirth, Ventricular s... OMIM:256520
Nevus Comedonicus Syndrome
Scoliosis, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Finger syndactyly, Preaxi... ORPHA:64754
Robinow Syndrome
Pulmonary valve atresia, Scoliosis, Tricuspid atresia, Atrial septal defect, Ventricular septal d... ORPHA:97360
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Platyspondyly, Hip dysplasia, Dislocated radial head, Abnormal vertebral morphology, A... ORPHA:93359
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Ventricular septal defect, Short middle phalanx of finger, Aplas... OMIM:113000
Craniodiaphyseal Dysplasia
Abnormality of the ribs, Diaphyseal thickening ORPHA:1513
Catel-Manzke Syndrome
Ventricular septal defect, Pectus carinatum, Coarctation of aorta, Camptodactyly, Ulnar deviation... OMIM:616145
Prune Belly Syndrome
Scoliosis, Atrial septal defect, Congenital hip dislocation, Ventricular septal defect, Pectus ex... ORPHA:2970
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Pectus carinatum, Kyphosis, Beaded ribs, Pectus excavatum, Short lower ... OMIM:259440
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Interrupted aortic arch, Ventricular septal de... ORPHA:2255
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubi... OMIM:151210
Fibrochondrogenesis 1
Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Patent foramen ovale, Short neck... OMIM:228520
Mucopolysaccharidosis Type 4
Scoliosis, Hyperlordosis, Platyspondyly, Genu valgum, Short thorax, Abnormality of epiphysis morp... ORPHA:582
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Scoliosis, Atrial septal defect, Kyphosis, Sprengel anomaly, Patent ductus arteriosus, Hemiverteb... OMIM:618223
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Atlantoaxial instability, Genu valgum, Short thorax, Pectus ca... ORPHA:239
Chromosome 1P36 Deletion Syndrome
Scoliosis, Camptodactyly, Patent ductus arteriosus, Metatarsus adductus, Aortic root aneurysm, Pa... OMIM:607872
Frank-Ter Haar Syndrome
Hip dysplasia, Atrial septal defect, Short phalanx of finger, Ventricular septal defect, Kyphosis... OMIM:249420
Pelvis-Shoulder Dysplasia
Hypoplastic ischia, Acetabular dysplasia, Fifth finger distal phalanx clinodactyly, Hydrocephalus... ORPHA:2839
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Scoliosis, Atrial septal defect, Sacral dimple, Ventricular septal defect OMIM:608227
Distal 22Q11.2 Microdeletion Syndrome
Hyperlordosis, Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Toe syndactyly,... ORPHA:261330
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Weiss-Kruszka Syndrome
Ventricular septal defect, Left ventricular hypertrophy, Bicuspid aortic valve, Proximal placemen... OMIM:618619
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Lateral clavicle hook, Postaxial hand polydactyly, Ventricular septal defect, Thorac... OMIM:615630
3C Syndrome
Scoliosis, Atrial septal defect, Hand polydactyly, Ventricular septal defect, Abnormal tricuspid ... ORPHA:7
Mucopolysaccharidosis, Type Ivb
Scoliosis, Hyperlordosis, Platyspondyly, Genu valgum, Prominent sternum, Constricted iliac wing, ... OMIM:253010
Diastrophic Dwarfism
Scoliosis, Hip dysplasia, Camptodactyly of finger, Abnormal clavicle morphology, Hypoplastic cerv... ORPHA:628
Melnick-Needles Syndrome
Scoliosis, Abnormality of the ribs, Short thorax, Anisospondyly, Narrow chest, Bowing of the long... ORPHA:2484
Isolated Hemihyperplasia
Scoliosis, Myelomeningocele, Asymmetry of the thorax ORPHA:2128
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Kyphosis, Pectus excavatum, Abnormal hip bone morpho... ORPHA:2522
Septopreoptic Holoprosencephaly
Abnormality of the ribs, Abnormal vertebral morphology, Coarctation of aorta ORPHA:280195
Laryngotracheoesophageal Cleft Type 4
Abnormality of the ribs, Abnormal cardiac septum morphology, Abnormal form of the vertebral bodies ORPHA:93941
Chime Syndrome
Pulmonary valve atresia, Ventricular septal defect, Abnormality of epiphysis morphology, Short pa... ORPHA:3474
Pontine Tegmental Cap Dysplasia
Scoliosis, Rib fusion, Hemivertebrae OMIM:614688
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplastic iliac wing, Metaphyseal cupping, T... OMIM:300863
Cog1-Cdg
Irregularity of vertebral bodies, Atrial septal dilatation, Posterior rib gap, Rib fusion, Short ... ORPHA:263508
Mucolipidosis Iii Gamma
Scoliosis, Hyperlordosis, Genu valgum, Flared iliac wing, Pectus carinatum, Kyphosis, Abnormal ri... OMIM:252605
Simpson-Golabi-Behmel Syndrome, Type 1
Scoliosis, Broad thumb, Two carpal ossification centers present at birth, Flared iliac wing, Shor... OMIM:312870
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Posterior scalloping of vertebral bodies, Congenital hip dislocation, Metaphyseal irre... OMIM:603546
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Short distal phalanx of toe, Patent ductus arteriosus, Short distal phalanx... ORPHA:79345
Cerebrocostomandibular Syndrome
Spina bifida, Ventricular septal defect, Posterior rib gap, Kyphosis, Death in infancy, Bell-shap... ORPHA:1393
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Shield chest, Thoracic kyphosis, Carpal bone hypoplasia, Camptodacty... OMIM:223800
Achondrogenesis Type 1B
Short thorax, Narrow chest, Umbilical hernia, Short foot, Abnormality of the ribs, Short neck ORPHA:93298
Thoracic Outlet Syndrome
Abnormality of the ribs, Varicose veins ORPHA:97330
Cyanosis And Hepatic Disease
Clubbing, Cyanosis OMIM:219400
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Narrow chest, Rib fusion, Hemivertebrae, Vertebral fusion, 11 pairs of ribs, Short neck ORPHA:94095
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Mcdonough Syndrome
Atrial septal defect, Ventricular septal defect, Pectus carinatum, Pectus excavatum, Radial devia... OMIM:248950
Baller-Gerold Syndrome
Scoliosis, Hypoplasia of the radius, Abnormal vertebral morphology, Abnormal heart morphology, Ap... OMIM:218600
Gm1-Gangliosidosis, Type I
Scoliosis, Thickened ribs, Cherry red spot of the macula, Abnormal heart valve morphology, Beakin... OMIM:230500
Thrombocytopenia-Absent Radius Syndrome
Scoliosis, Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Aplasia/Hypoplasia of... ORPHA:3320
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone... OMIM:177170
Wolf-Hirschhorn Syndrome
Scoliosis, Short hallux, Hypoplastic pubic rami, Atrial septal defect, Preaxial hand polydactyly,... ORPHA:280
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Broad ribs, Narrow chest, Ventricular septal defect, Adducted thumb, Cardiom... OMIM:617022
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Ventricular septal defect, Holoprosencephaly, Patent ductus arteri... ORPHA:77298
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Kyphosis, Postaxial polydactyly, ... OMIM:603387
Achondrogenesis, Type Ii
Stillbirth, Broad long bones, Horizontal ribs, Absent vertebral body mineralization, Hypoplastic ... OMIM:200610
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Horizontal ribs, Postaxial polydactyly, Bell-shaped thorax, ... OMIM:615633
Mucopolysaccharidosis, Type Iva
Scoliosis, Hyperlordosis, Platyspondyly, Genu valgum, Prominent sternum, Constricted iliac wing, ... OMIM:253000
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Pectus carinatum, Carpal bone hypoplasia, Severe carpal... OMIM:184252
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Platyspondyly, Dislocated radial head, Metaphyseal irregularity, Carpal bone hypoplasi... OMIM:618395
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect ORPHA:1918
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Dextrocardia, Double outlet right ventricle, Mesocardia, Left atrial isom... OMIM:605376
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Metaphyseal chondrodysplasia, Metaphyseal cupping of metacarpals, Death in infancy... ORPHA:163966
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Ventricular septal defect, Aplasia/Hypoplasia of the radius, Anencephaly, Hypoplast... ORPHA:2476
Juberg-Hayward Syndrome
Scoliosis, Hypoplasia of the radius, Toe syndactyly, Abnormality of finger, Abnormal vertebral mo... ORPHA:2319
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Platyspondyly, Broad ribs, Narrow chest, Finger syndactyly, Abnormal heart valve mo... ORPHA:1517
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Abnormal hip bone morphology, Tetralogy of... ORPHA:1166
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Prominent floating ribs, Stillbirth OMIM:152800
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, Ventricular sept... ORPHA:3097
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Proximal femoral metaphyseal irregularity, Thoracic hypoplasia, Irregular iliac cr... ORPHA:168549
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Lateral clavicle hook, Narrow chest, Ventricular septal defect, Thoraci... OMIM:617895
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Abnormality of the ribs, Short neck, Vertebral segmentation defect ORPHA:2578
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Spina bifida, Scapular winging, Toe syndactyly, Narrow chest, Abnormal f... ORPHA:1327
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scoliosis, Hyperlordosis, Genu valgum, Atrial septal defect, Scapular winging, Finger joint hyper... OMIM:618870
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Cardiofaciocutaneous Syndrome 3
Scoliosis, Atrial septal defect, Ventricular septal defect, Pectus excavatum, Pulmonic stenosis, ... OMIM:615279
22Q11.2 Deletion Syndrome
Scoliosis, Patent ductus arteriosus, Abnormal thorax morphology, Short neck, Hydrocephalus, Trunc... ORPHA:567
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of the ribs, Hypoplastic left heart, Ventricular septal defect ORPHA:2772
Mosaic Trisomy 14
Abnormality of the ribs, Camptodactyly of finger, Short neck, Narrow chest ORPHA:1703
Fountain Syndrome
Scoliosis, Spina bifida, Abnormal form of the vertebral bodies, Kyphosis, Pectus excavatum, Eryth... ORPHA:3219
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology, Thoracic hypoplasia, Large placenta, Umbili... ORPHA:254534
Feingold Syndrome 2
3-4 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 2nd finger, 2-3 toe sy... OMIM:614326
Tetralogy Of Fallot
Tetralogy of Fallot, Clinodactyly of the 5th finger OMIM:187500
Alagille Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal form of the vertebral bodies, Periphera... ORPHA:52
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Short thumb, Brachydac... ORPHA:391646
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Abnormal tricuspid valve morphology, Meningocele, Dextrocardia, Missing ... ORPHA:1759
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Death in ... OMIM:613759
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Camptodactyly, Small hand, Left ventricular hypertrophy, Short foot, Abnormality of th... OMIM:611209
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Smith-Mccort Dysplasia 1
Scoliosis, Platyspondyly, Atlantoaxial instability, Multicentric femoral head ossification, Genu ... OMIM:607326
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Patent ductus arteriosus, Pulm... OMIM:249670
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Platyspondyly, Prominent sternum, Flared iliac wing, Thoracic kyphosis, Sho... OMIM:300232
Pentalogy Of Cantrell
Scoliosis, Atrial septal defect, Abnormality of tibia morphology, Ventricular septal defect, Spli... ORPHA:1335
Facial Dysmorphism With Multiple Malformations
Ventricular septal defect, Hemivertebrae, Tetralogy of Fallot, Hydrocephalus, Transposition of th... OMIM:227255
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd fing... ORPHA:93320
Carpenter Syndrome 2
Atrial septal defect, Situs inversus totalis, Broad thumb, Pectus carinatum, Camptodactyly, Preax... OMIM:614976
Restrictive Dermopathy
Camptodactyly of finger, Atrial septal defect, Short umbilical cord, Thoracic kyphoscoliosis, Apl... ORPHA:1662
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, 2-3... ORPHA:477817
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Platyspondyly, Atrial septal defect, Coronal cleft vertebrae, Abnormality o... ORPHA:2347
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Phocomelia, Later... OMIM:274000
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Toe syndactyly, Abnormality of epiphys... ORPHA:3082
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Transposition of the great arteries OMIM:614779
Achondrogenesis, Type Ia
Hypoplasia of the radius, Unossified vertebral bodies, Stillbirth, Barrel-shaped chest, Hypoplast... OMIM:200600
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Ventricular septal defect, Patent ductus arteriosus, Alobar holopros... OMIM:301043
Poland Syndrome
Scoliosis, Absent hand, Split hand, Abnormal sternum morphology, Hemivertebrae, Unilateral brachy... ORPHA:2911
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Spina bifida occulta, ... OMIM:239711
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Platyspondyly, Flared iliac wing, Ulnar bowing, Irregular sclerotic endplates, Met... OMIM:602111
Achondrogenesis Type 1A
Short thorax, Narrow chest, Umbilical hernia, Multiple rib fractures, Short foot, Short neck, Sho... ORPHA:93299
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Synostosis of carpal bones... ORPHA:957
Kniest-Like Dysplasia, Lethal
Platyspondyly, Atrial septal defect, Broad ribs, Coronal cleft vertebrae, Metaphyseal irregularit... OMIM:245190
Joubert Syndrome 18
Polydactyly, Kyphoscoliosis, Camptodactyly, Ventricular septal defect OMIM:614815
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Metaphyseal irregularity, Carpal bone hypoplasia, Genu valgum, Narrow iliac wing, Meta... OMIM:250420
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Overlapping fingers, Rocker bottom foot, Postaxial hand polydactyly, Ventricular septal defect, P... OMIM:301056
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Atrial septal defect, Broad ribs, Ventricular septal defect, Abnormal... ORPHA:2519
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Shield chest, Barrel-shaped chest, Kyphosis, Irregular epiphyses, Hypop... OMIM:313400
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hemivertebrae, Abnormality of the ribs, Short neck, Abnormal form of the vertebral bodies ORPHA:2234
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Vascular skin abnormality, Rib fusion, Sacral dimple, Clinodactyly of the 5th finger... ORPHA:544488
Microgastria-Limb Reduction Defect Syndrome
Oligodactyly, Absent hand, Atrial septal defect, Truncus arteriosus, Abnormality of finger, Arrhi... ORPHA:2538
3M Syndrome
Scoliosis, Hyperlordosis, Increased vertebral height, Rocker bottom foot, Short thorax, Congenita... ORPHA:2616
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormality of the ribs, Hydrocephalus OMIM:300864
Wolf-Hirschhorn Syndrome
Scoliosis, Split hand, Metatarsus adductus, Short thumb, Hydrocephalus, Hip dysplasia, Short hall... OMIM:194190
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs, Slender long bone, Abnormality of pelvic girdle bone morphology ORPHA:1506
Cartilage-Hair Hypoplasia
Scoliosis, Narrow chest, Spinal dysraphism, Abnormality of the metaphysis, Abnormality of the rib... ORPHA:175
Craniofaciofrontodigital Syndrome
Abnormal thumb morphology, Narrow chest, Umbilical hernia, Abnormal hip bone morphology, Abnormal... ORPHA:363705
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Posterior rib fusion, Patent ductus arteriosus, Pulmonary ar... OMIM:265380
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Slender long bone, Abnormal hip bone morphology, Abnormali... ORPHA:1486
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Aqueductal stenosis, Tibial bowing, Abnormally ossified ... ORPHA:3035
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Abnormality of limb bone morphology, Sprengel anomaly, Cervical C2/C3 vertebral fusion... OMIM:118100
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Cole-Carpenter Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Bowing of the long bones, Crumpled lo... ORPHA:2050
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Abnormal heart morphology, Th... OMIM:114290
Primary Non-Essential Cutis Verticis Gyrata
Scoliosis, Atrial septal defect, Ventricular septal defect ORPHA:357225
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Trisomy 13
Scoliosis, Atrial septal defect, Postaxial hand polydactyly, Narrow chest, Ventricular septal def... ORPHA:3378
Postsynaptic Congenital Myasthenic Syndromes
Scoliosis, Cyanosis, Thoracic kyphoscoliosis ORPHA:98913
Zttk Syndrome
Scoliosis, Atrial septal defect, Ventricular septal defect, Kyphosis, Patent ductus arteriosus, R... OMIM:617140
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Thin ribs OMIM:615220
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Tetralogy of Fallot, Abnormality of the vertebral column, Abnormal vertebral morphology OMIM:250620
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Short femur, Ventricular septal defect, Holoprosencephaly, Foot oligodactyly OMIM:601357
Fibrochondrogenesis
Camptodactyly of finger, Broad ribs, Narrow chest, Abnormal form of the vertebral bodies, Hypopla... ORPHA:2021
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Nestor-Guillermo Progeria Syndrome
Scoliosis, Osteolytic defects of the distal phalanges of the hand, Atherosclerosis, Progressive c... OMIM:614008
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Patent ductus arteriosus, Hydrocephalus, Atrial septal defect OMIM:614886
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Short femur, Ventricular septal defect, Thoracic hypoplasia, Beaded ribs, Adducted... OMIM:616897
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Short neck, Broad ribs, Biconcave vertebral bodies, Short ribs, Short humerus, Short c... OMIM:610319
Thoracoabdominal Syndrome
Patent ductus arteriosus, Anencephaly, Ectopia cordis, Hydrocephalus, Transposition of the great ... OMIM:313850
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Abnormal sternum morpho... OMIM:615355
Becker Nevus Syndrome
Scoliosis, Cervical ribs, Pectus excavatum, Hemivertebrae OMIM:604919
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Scoliosis, Atrial septal defect, Ventricular septal defect, Pectus carinatum, Camptodactyly, Pect... OMIM:301039
Ritscher-Schinzel Syndrome 2
Scoliosis, Atrial septal defect, Overlapping toe, Ventricular septal defect, Camptodactyly, Paten... OMIM:300963
Mucopolysaccharidosis Type 6
Genu valgum, Broad ribs, Abnormal heart valve morphology, Ovoid vertebral bodies, Kyphosis, Abnor... ORPHA:583
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Sprengel anomaly, Bowing of the long bones, Abnor... ORPHA:2097
Otopalatodigital Syndrome Type 2
Scoliosis, Short hallux, Camptodactyly of finger, Fibular aplasia, Tarsal synostosis, Narrow ches... ORPHA:90652
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Toe syndactyly, Ventricular septal defect ORPHA:251076
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Clinodactyly of the 5th finger, Abnormality... ORPHA:2759
Tarp Syndrome
Scoliosis, Rocker bottom foot, Atrial septal defect, Hand polydactyly, Finger syndactyly, Pectus ... ORPHA:2886
Vacterl Association With Hydrocephalus
Radial club hand, Abnormality of the vertebral column, Stillbirth, Abnormal heart morphology, Abn... OMIM:276950
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Abnormal thorax morphology, Tetralog... ORPHA:2184
Kagami-Ogata Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Bell-shaped thorax, Th... OMIM:608149
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Flared iliac wing, Ovoid vertebral bodies, Fragile skin, Metat... OMIM:271640
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Ventricular septal defect, Camptodactyly, Peripheral pulmonary artery stenosis, Broad 2nd toe, Co... OMIM:280000
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Narrow chest, Iliac crest s... OMIM:250220
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Contractural Arachnodactyly, Congenital
Scoliosis, Atrial septal defect, Congenital finger flexion contractures, Ventricular septal defec... OMIM:121050
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Pectus excavatum, Hypoplastic distal segments of scapulae OMIM:602196
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Cervical ribs, Situs inversus totalis, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Mmep Syndrome
Triphalangeal thumb, Split foot, Ventricular septal defect ORPHA:3434
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Ventricular septal defect, Preaxial polydactyly, Postaxial p... OMIM:615503
Frontometaphyseal Dysplasia 1
Scoliosis, Genu valgum, Camptodactyly of finger, Anteriorly placed odontoid process, Scapular win... OMIM:305620
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Patent ductus arteriosus, Absent radius, Triphalangeal thumb, Hypoplasia of first ribs... OMIM:154400
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect, C... OMIM:264480
Lambert Syndrome
Jaundice, Branchial anomaly, Ventricular septal defect ORPHA:1296
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Right aortic arch, Supraumbilical raphe, Coarctation of aorta OMIM:140850
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Narrow chest, Branchial cyst, Patent ductus arteriosus, Long toe, Spi... ORPHA:508488
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Caudal Duplication
Spina bifida, Vertebral segmentation defect, Myelomeningocele, Bifid sacrum, Abnormal sacrum morp... ORPHA:1756
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Scoliosis, Atrial septal defect, Broad thumb, Ventricular septal defect, Pectus excavatum, Patent... ORPHA:329224
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Ventricular septal defect, Finger syndactyly, Holoprosencephaly, Spinal d... ORPHA:1908
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Patent ductus arteriosus, Toe clinodactyly, Ventricular septal defect ORPHA:261120
Aphalangy With Hemivertebrae
Ventricular septal defect, Aphalangy of the hands, Hemivertebrae, Aplasia of the phalanges of the... OMIM:207620
Ellis-Van Creveld Syndrome
Genu valgum, Atrial septal defect, Postaxial hand polydactyly, Narrow chest, Ectodermal dysplasia... OMIM:225500
Opsismodysplasia
Scoliosis, Anterior rib cupping, Squared iliac bones, Narrow chest, Metaphyseal cupping, Hypoplas... OMIM:258480
Microgastria-Limb Reduction Defects Association
Hypoplasia of the radius, Secundum atrial septal defect, Arrhinencephaly, Hypoplasia of the ulna,... OMIM:156810
Spondylometaphyseal Dysplasia, Algerian Type
Anterior rib cupping, Platyspondyly, Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Fla... OMIM:184253
Campomelia, Cumming Type
Prematurely aged appearance, Bowing of the long bones, Death in infancy, Abnormal thorax morpholo... ORPHA:1318
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Premature sternal synostosis, Abnormal heart morphology OMIM:184800
Czeizel-Losonci Syndrome
2-3 finger syndactyly, Spina bifida, 1-2 finger syndactyly, 3-4 finger syndactyly, Radial deviati... ORPHA:2437
Cholesterol Pneumonia
Cyanosis, Death in infancy OMIM:215030
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Abnormal vertebral morphology, Metaphyseal irregularity,... ORPHA:93352
Larsen Syndrome
Scoliosis, Multiple carpal ossification centers, Atrial septal defect, Hypoplastic cervical verte... OMIM:150250
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida, Camptodactyly OMIM:211960
Craniofaciofrontodigital Syndrome
Broad ribs, Abnormal heart morphology, Palmoplantar cutis laxa, Hypoplastic pelvis, Pectus excava... OMIM:114620
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Clinodactyly of the 5th finger, Sandal gap, Ventricular septal defect ORPHA:2515
Cleidocranial Dysplasia
Scoliosis, Genu valgum, Abnormal thumb morphology, Narrow chest, Abnormality of epiphysis morphol... ORPHA:1452
Mosaic Trisomy 9
Scoliosis, Rocker bottom foot, Spina bifida, Atrial septal defect, Camptodactyly of finger, Ventr... ORPHA:99776
Cat-Eye Syndrome
Hip dysplasia, Abnormality of the ribs ORPHA:195
Roifman Syndrome
Noncompaction cardiomyopathy, Biconvex vertebral bodies, Ventricular septal defect, Irregular ver... OMIM:616651
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Short-Rib Thoracic Dysplasia 12
Narrow chest, Patent ductus arteriosus, Horizontal ribs, Anencephaly, Bowing of the legs, Patent ... OMIM:269860
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Abnormal form of the vertebral bodies, Missing ribs, Abnormality of the ribs, Abnormal... ORPHA:1834
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... ORPHA:93323
Hurler Syndrome
Scoliosis, Camptodactyly of finger, Abnormal clavicle morphology, Abnormal vertebral morphology, ... ORPHA:93473
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Postaxial hand polydactyly, Hydrocephalus, Ventricular septal... ORPHA:83473
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs, Brachydactyly, Abnormality of epiphysis morphology ORPHA:2643
Spondylo-Ocular Syndrome
Platyspondyly, Ventricular septal defect, Thoracic kyphosis, Abnormality of the intervertebral di... ORPHA:85194
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Codas Syndrome
Scoliosis, Congenital hip dislocation, Coronal cleft vertebrae, Abnormal form of the vertebral bo... ORPHA:1458
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Metaphyseal chondrodysplasia, Narrow chest, Short palm, Cone-shaped epiphysis, Sho... ORPHA:93317
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
3P25.3 Microdeletion Syndrome
Scoliosis, 2-3 finger syndactyly, Atrial septal defect, Broad thumb, Overlapping toe, Ventricular... ORPHA:435638
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae OMIM:252900
Acro-Renal-Mandibular Syndrome
Scoliosis, Abnormal clavicle morphology, Hypoplasia of the radius, Rudimentary fibula, Finger syn... ORPHA:958
Limb Body Wall Complex
Short umbilical cord, Abnormal thorax morphology, Anencephaly, Aplasia/Hypoplasia involving bones... ORPHA:2369
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Cyanosis OMIM:263000
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Trisomy 1Q
Camptodactyly of finger, Short thorax, Preaxial hand polydactyly, Toe syndactyly, Ventricular sep... ORPHA:261344
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Polydactyly, Syndactyly, Cutis marmorata, Hydrocephalus OMIM:602501
Lateral Meningocele Syndrome
Scoliosis, Hyperlordosis, Ventricular septal defect, Abnormal form of the vertebral bodies, Kypho... ORPHA:2789
Multiple Pterygium Syndrome, X-Linked
Short finger, Vertebral fusion, Abnormal cervical curvature, Hypoplastic heart, Thin ribs OMIM:312150
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... ORPHA:2326
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Broad long bones, Beaded ribs, Tibial bowing, Crumpled long bones, Abnormality of ... OMIM:166210
Three M Syndrome 2
Hyperlordosis, Prominent calcaneus, Short thorax, Scapular winging, Pectus carinatum, Lumbar hype... OMIM:612921
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Cardiomegaly OMIM:252920
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Diaphyseal sclerosis OMIM:122860
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Clinodactyly, Double outlet right ventricle... ORPHA:2209
Chromosome 6Pter-P24 Deletion Syndrome
Hip dysplasia, Rocker bottom foot, Atrial septal defect, Broad toe, Ventricular septal defect, Te... OMIM:612582
Tetrasomy 5P
Short hallux, Short neck, Overlapping toe, Pectus excavatum, Cyanosis, Clinodactyly of the 5th fi... ORPHA:3309
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Digeorge Syndrome
Scoliosis, Right aortic arch with mirror image branching, Truncus arteriosus, Interrupted aortic ... OMIM:188400
Diamond-Blackfan Anemia 7
Scoliosis, Ventricular septal defect, Secundum atrial septal defect, Sprengel anomaly, Patent duc... OMIM:612562
Dextrocardia
Situs inversus totalis, Congenital hip dislocation, Congenital malformation of the great arteries... ORPHA:1666
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Anencephaly, Bifid sternum, Myelomeningocele ORPHA:63260
Weill-Marchesani Syndrome 1
Scoliosis, Broad ribs, Ventricular septal defect, Broad metatarsal, Patent ductus arteriosus, Lum... OMIM:277600
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Cutis marmorata, Short nec... OMIM:612938
Progeroid Facial Appearance With Hand Anomalies
Progeroid facial appearance, Joint contracture of the 5th finger, Cutaneous finger syndactyly, Pr... OMIM:602249
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cyanosis OMIM:207950
Congenital Heart Defects And Skeletal Malformations Syndrome
Scoliosis, Atrial septal defect, Ventricular septal defect, Finger clinodactyly, Camptodactyly, P... OMIM:617602
Nail-Patella Syndrome
Scoliosis, Spina bifida, Hypoplastic radial head, Pectus excavatum, Back pain, Iliac horns, Lumba... OMIM:161200
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Multiple Pterygium Syndrome, Lethal Type
Short finger, Vertebral fusion, Abnormal cervical curvature, Hypoplastic heart, Thin ribs OMIM:253290
Dysosteosclerosis
Platyspondyly, Broad ribs, Narrow chest, Progressive bowing of long bones, Short diaphyses, Short... OMIM:224300
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Pallister-Hall Syndrome
Broad thumb, Patent ductus arteriosus, Supernumerary metacarpal bones, 3-4 finger cutaneous synda... ORPHA:672
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the ribs, Sprengel anomaly, Abnormality of the vertebral column OMIM:601076
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Atrial septal defect, Abnormality of finger, Synostosis of... ORPHA:896
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Apnea, Central Sleep
Cyanosis OMIM:207720
Cenani-Lenz Syndrome
Scoliosis, Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Abnorma... ORPHA:3258
Galloway-Mowat Syndrome 7
Ventricular septal defect, Pectus excavatum, Partial duplication of thumb phalanx, Clinodactyly, ... OMIM:618348
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Neural tube defect OMIM:600776
Charge Syndrome
Scoliosis, Atrial septal defect, Hand polydactyly, Ventricular septal defect, Arrhinencephaly, Ho... OMIM:214800
Coffin-Siris Syndrome 10
Clinodactyly, Ventricular septal defect OMIM:618506
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scoliosis, Postaxial hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral mo... OMIM:308205
Cole-Carpenter Syndrome 2
Platyspondyly, Kyphosis, Pectus excavatum, Narrow iliac wing, Thin ribs, Hydrocephalus OMIM:616294
Filippi Syndrome
Cutaneous syndactyly, Finger clinodactyly, 2-4 toe syndactyly, Ventricular septal defect OMIM:272440
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Ventricular hypertrophy, Short phalanx of finger, Shield chest, Short distal phalanx o... OMIM:143095
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Broad thumb, Ventricular septal defect, 2-3 toe syndactyly, Sandal gap, Coa... OMIM:600987
Leopard Syndrome 3
Shield chest, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Tetralogy of Fa... OMIM:613707
Noonan Syndrome 4
Scoliosis, Atrial septal defect, Ventricular septal defect, Abnormal sternum morphology, Pectus e... OMIM:610733
Noonan Syndrome 2
Atrial septal defect, Shield chest, Abnormal coronary artery origin, Ventricular septal defect, P... OMIM:605275
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Kyphoscoliosis OMIM:252930
Vacterl/Vater Association
Preaxial hand polydactyly, Finger syndactyly, Anencephaly, Aplasia/Hypoplasia of the radius, Abno... ORPHA:887
Lateral Meningocele Syndrome
Scoliosis, Biconcave vertebral bodies, Kyphosis, Pectus excavatum, Patent ductus arteriosus, Umbi... OMIM:130720
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Atrial septal defect, Abnormal heart morphology, Ab... ORPHA:2847
Focal Dermal Hypoplasia
Scoliosis, Camptodactyly of finger, Spina bifida, Hand polydactyly, Toe syndactyly, Ventricular s... ORPHA:2092
Pagod Syndrome
Abnormal clavicle morphology, Spina bifida, Situs inversus totalis, Abnormal aortic morphology, D... ORPHA:991
Timothy Syndrome
Cutaneous syndactyly, Ventricular septal defect, Patent ductus arteriosus, Syndactyly, Cardiomega... OMIM:601005
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Ventricular septal defect, Death in infancy, Patent ductus arterio... OMIM:300514
Acalvaria
Holoprosencephaly, Spina bifida, Postaxial hand polydactyly, Hydrocephalus ORPHA:945
Recombinant 8 Syndrome
Scoliosis, Camptodactyly of finger, Atrial septal defect, Ventricular septal defect, Abnormal ste... ORPHA:96167
Hadziselimovic Syndrome
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Pulmonary artery atresi... OMIM:612946
Pelger-Huet Anomaly
Short 4th metacarpal, Short 3rd metacarpal, Upper limb undergrowth, Ventricular septal defect, Po... OMIM:169400
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Kyphosis, Anterior beaking of lumbar vertebrae, Cardiome... ORPHA:349
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Platyspondyly, Hyperlordosis, Bowing of the long bones, Metaphyseal cupping, Abnormali... ORPHA:85167
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Noonan Syndrome 10
Scoliosis, Atrial septal defect, Ventricular septal defect, Palmoplantar cutis laxa, Pectus carin... OMIM:616564
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Bowing of the long bones, Umbilical hernia, Thin ribs, Femoral bowing... OMIM:617952
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Postaxial polysyndactyly of foot, Atrial septal defect, Postaxial hand polydactyly... OMIM:263520
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Short middle phalanx of the 2nd fi... OMIM:617926
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Genu valgum, Minimal subcutaneous fat, C1-C2 vertebral abnormality, Aortic aneurysm, D... OMIM:182212
Hypophosphatasia
Abnormality of the metaphysis, Abnormality of the ribs, Bowing of the long bones, Narrow chest ORPHA:436
Grange Syndrome
Ventricular septal defect, Patent ductus arteriosus, Syndactyly, Arterial stenosis, Short palm ORPHA:79094
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Narrow chest, Complete atrioventricular canal defect, Preaxial polydactyly... OMIM:617925
Ivic Syndrome
Scoliosis, Hypoplasia of the radius, Short femur, Upper limb undergrowth, Radioulnar synostosis, ... OMIM:147750
Osteogenesis Imperfecta, Type Iii
Scoliosis, Protrusio acetabuli, Biconcave vertebral bodies, Kyphosis, Tibial bowing, Thin ribs, S... OMIM:259420
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Pectus excavatum, Sandal gap, Radial deviation o... OMIM:270450
Waardenburg Syndrome Type 1
Scoliosis, Spina bifida, Premature graying of hair, Sprengel anomaly, Meningocele ORPHA:894
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Pectus carinatum, Abnormal hip bone morphology, Abnormality of the ribs, Clinodact... ORPHA:3068
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the ribs, Split hand, Brachydactyly, Finger syndactyly ORPHA:2145
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Mucolipidosis Iii Alpha/Beta
Scoliosis, Irregular carpal bones, Broad ribs, Split hand, Carpal bone hypoplasia, Short ribs, Sh... OMIM:252600
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Scoliosis, Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Umbili... ORPHA:500159
C Syndrome
Scoliosis, Dislocated radial head, Fused sternal ossification centers, Postaxial hand polydactyly... OMIM:211750
Breath-Holding Spells
Cyanosis OMIM:607578
Hyperparathyroidism, Transient Neonatal
Thin ribs, Narrow chest, Femoral bowing, Short ribs OMIM:618188
Mosaic Trisomy 16
Atrial septal defect, Short forearm, Ventricular septal defect, Abnormal heart morphology, Large ... ORPHA:1708
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Scoliosis, Atrial septal defect, Broad thumb, Overlapping toe, Ventricular septal defect, Down-sl... OMIM:617452
Dysosteosclerosis
Platyspondyly, Ventricular septal defect, Irregular vertebral endplates, Coarse metaphyseal trabe... ORPHA:1782
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Short metacarpal, Patell... OMIM:617604
Stuve-Wiedemann Syndrome
Scoliosis, Contracture of the proximal interphalangeal joint of the 5th finger, Short phalanx of ... OMIM:601559
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Lateral clavicle hook, Absent tibia, Thoracic hypoplasia, Preaxial polydactyly, Horizo... OMIM:613091
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Overlapping toe, Ventricular septal defect, Camptodactyly, Pulmonic stenosis OMIM:614262
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Short ribs, Kyphoscoliosis ORPHA:1145
Mosaic Trisomy 20
Scoliosis, Narrow chest, Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricula... ORPHA:1724
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Atrial septal defect, Ventricular septal defect, Pericardial effusion, Camptodactyly, ... OMIM:235510
Renpenning Syndrome
Abnormal thumb morphology, Sprengel anomaly, Pectus excavatum, Abnormality of the ribs, Clinodact... ORPHA:3242
Congenital Myasthenic Syndrome
Congenital hip dislocation, Pectus carinatum, Spinal rigidity, Spinal deformities, Kyphoscoliosis... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Pectus carinatum, Spinal rigidity, Spinal deformities, Kyphoscoliosis... ORPHA:98914
Osteogenesis Imperfecta, Type Xvi
Beaded ribs, Vertebral compression fracture OMIM:616229
Wolcott-Rallison Syndrome
Jaundice, Double outlet right ventricle, Metaphyseal dysplasia, Atrial septal defect ORPHA:1667
Asbestos Intoxication
Clubbing of fingers, Myocardial fibrosis, Oxygen desaturation on exertion, Cor pulmonale, Hypoxem... ORPHA:2302
Steinfeld Syndrome
Hypoplasia of the radius, Abnormality of the vertebral column, Abnormal vertebral morphology, Abn... OMIM:184705
Osteogenesis Imperfecta
Scoliosis, Abnormality of long bone morphology, Abnormality of tibia morphology, Narrow chest, Ab... ORPHA:666
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Left Ventricular Noncompaction 1
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... OMIM:604169
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosu... OMIM:612561
Weill-Marchesani Syndrome 2
Scoliosis, Short metatarsal, Broad ribs, Ventricular septal defect, Broad metatarsal, Short finge... OMIM:608328
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Clino... OMIM:618974
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis, Abnormal thorax morphology ORPHA:70587
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Holoprosencephaly, Hypoplasia of the ulna, Foot polydactyly, Missing ri... ORPHA:3186
Waardenburg Syndrome, Type 1
Spina bifida, Supernumerary vertebrae, Myelomeningocele, Premature graying of hair, Sprengel anom... OMIM:193500
Congenital Pulmonary Lymphangiectasia
Pulmonic stenosis, Cyanosis, Chylopericardium ORPHA:2414
Cerebrocostomandibular Syndrome
Scoliosis, Atrial septal defect, Congenital hip dislocation, Ventricular septal defect, Thoracic ... OMIM:117650
Shwachman-Diamond Syndrome 1
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Metaphyseal sclerosis, Metaphyse... OMIM:260400
Van Esch-O'Driscoll Syndrome
Pulmonary valve atresia, Scoliosis, Atrial septal defect, Ventricular septal defect, Spina bifida... OMIM:301030
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Short neck OMIM:252940
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect OMIM:235750
Aase-Smith Syndrome I
Death in infancy, Hydrocephalus, Slender finger, Ventricular septal defect OMIM:147800
Congenital Fibrinogen Deficiency
Clubbing of fingers, Right ventricular hypertrophy, Left ventricular hypertrophy, Subcutaneous he... ORPHA:335
X-Linked Intellectual Disability, Nascimento Type
Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Peripheral pulmonary artery... ORPHA:163956
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Hypoxemia, Abnormal pulmonary artery morphology, Dextrocardia, Pat... ORPHA:2257
Oculoauriculofrontonasal Syndrome
Scoliosis, Ventricular septal defect ORPHA:398156
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Hypoplastic sacrum, Atrial septal defect, Spinal dysraphism, Aortic valve stenosis, Absence of th... OMIM:617660
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Atrial septal defect, Ventricular septal defect ORPHA:3469
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Narrow chest, Forearm undergrowth, Absent radius, Abnormal... OMIM:251230
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Flared iliac wing, Tri... OMIM:271665
Surfactant Metabolism Dysfunction, Pulmonary, 1
Misalignment of the pulmonary veins, Death in infancy, Neonatal death, Clubbing, Cyanosis OMIM:265120
Osteogenesis Imperfecta, Type Vii
Scoliosis, Hypoplastic pulmonary veins, Protrusio acetabuli, Narrow chest, Absent pulmonary arter... OMIM:610682
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Scoliosis, Macrodactyly, Spinal dysraphism, Sandal gap, Venous malformation OMIM:612918
Warsaw Breakage Syndrome
Ventricular septal defect, 2-3 toe syndactyly, Clinodactyly, Cutis marmorata, Tetralogy of Fallot OMIM:613398
Occipital Horn Syndrome
Carotid artery tortuosity, Platyspondyly, Genu valgum, Broad ribs, Narrow chest, Pectus carinatum... OMIM:304150
Loeys-Dietz Syndrome 5
Atrial septal defect, Scapular winging, Congenital finger flexion contractures, Ventricular septa... OMIM:615582
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Ventricular septal defect OMIM:616901
Anophthalmia Plus Syndrome
Spina bifida, Vertebral segmentation defect, Deviation of finger ORPHA:1104
Holzgreve Syndrome
Hand polydactyly, Abnormality of the metacarpal bones, Abnormally ossified vertebrae, Abnormality... ORPHA:2167
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Atrial septal defect, Patent ductus arteriosus after birth at term, Abnormal heart morphology, Ri... ORPHA:500150
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Absent glenoid fossa, Epiphyseal stippling, Narrow chest, Camptodactyly, Spinal dysrap... ORPHA:96334
Oculocerebrocutaneous Syndrome
Hand polydactyly, Congenital hip dislocation, Finger syndactyly, Short distal phalanx of finger, ... ORPHA:1647
Sifrim-Hitz-Weiss Syndrome
Atrial septal defect, Ventricular septal defect, Flat acetabular roof, Short clavicles, Coarctati... OMIM:617159