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
Vertebral segmentation defect, Rib fusion, Myelomeningocele, Hemivertebrae, Unilateral vertebral ... OMIM:613686
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... OMIM:609813
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Vertebral segmentation defect, Bicuspid aortic valve, Hypoplastic ... OMIM:618845
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Abnormal form of ... ORPHA:1354
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... OMIM:277300
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Cyanosis, Coarctation of aorta, Pulmonary artery atresia... ORPHA:1209
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck OMIM:608681
Poland Syndrome
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... OMIM:173800
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Short neck, Posterior rib fusion, Scoliosis, Spina bifida occulta,... ORPHA:1797
16P13.11 Microduplication Syndrome
Pectus excavatum, Atrial septal defect, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot... ORPHA:261243
Autosomal Recessive Spondylocostal Dysostosis
Vertebral segmentation defect, Rib fusion, Kyphosis, Anomalous pulmonary venous return, Camptodac... ORPHA:2311
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Abnormal hip b... ORPHA:294975
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short toe, Clinodactyly of the 5th finger, Pectus excavatum, Prominent sternum, Spondylolisthesis... OMIM:617877
Becker Nevus Syndrome
Rib fusion, Kyphosis, Pectus excavatum, Scoliosis, Abnormality of tibia morphology, Pectus carina... ORPHA:64755
Spondylocostal Dysostosis 5
Butterfly vertebrae, Hemivertebrae, Short neck, Posterior rib fusion, Scoliosis, Pectus carinatum... OMIM:122600
Intellectual Developmental Disorder, Autosomal Dominant 66
Clinodactyly of the 5th finger, Secundum atrial septal defect, Toe clinodactyly, Pectus excavatum... OMIM:619910
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Pectus excavatum, Camptodactyly of finger, Brachydactyly, Sco... ORPHA:1937
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... ORPHA:3268
Basal Cell Nevus Syndrome
Bifid ribs, Sprengel anomaly, Short distal phalanx of the thumb, Abnormal sternum morphology, Kyp... OMIM:109400
Pyknoachondrogenesis
Stillbirth OMIM:265880
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Hemivertebrae, Posterior ri... OMIM:608406
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Short distal phalanx of finger, Hydranencephaly, Truncus arteriosus OMIM:601355
Isolated Klippel-Feil Syndrome
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... ORPHA:2345
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent ductus arteriosus,... OMIM:612474
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Hydrocephalus, Aortic valve stenosis, Atrial septal defect, Hypopl... OMIM:220210
Diabetic Embryopathy
Vertebral segmentation defect, Hydrocephalus, Tetralogy of Fallot, Ventricular septal defect, Spi... ORPHA:1926
Femoral-Facial Syndrome
Sprengel anomaly, Rib fusion, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the... ORPHA:1988
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Atrioventricular canal defect, Short humerus, Abnormality of the vertebral column,... OMIM:314390
Holt-Oram Syndrome
Anomalous pulmonary venous return, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, ... ORPHA:392
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Cerebrofaciothoracic Dysplasia
Bifid ribs, Rib fusion, Sprengel anomaly, Narrow chest, Vertebral segmentation defect, Hemiverteb... ORPHA:1394
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Syndactyly, Neonatal death, Ventricular septal defect, Hypoplasia of the ulna, Truncus arteriosus OMIM:228940
Conotruncal Heart Malformations
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... OMIM:217095
Fetal Trimethadione Syndrome
Atrial septal defect, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Transposition of... ORPHA:1913
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Cyanosi... ORPHA:1461
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Bicuspid aortic valve, Anomalous p... ORPHA:1120
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... OMIM:609052
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... OMIM:231060
Thymic Aplasia With Fetal Death
Stillbirth, Truncus arteriosus OMIM:274210
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Carpenter Syndrome 1
Aplasia/Hypoplasia of the middle phalanges of the toes, Short neck, Ventricular septal defect, Ge... OMIM:201000
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Metatropic Dysplasia
Narrow chest, Kyphosis, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Cam... ORPHA:2635
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Short neck, Ventricular septal defect, Abnormal aortic morphology... ORPHA:2516
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... OMIM:156530
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Clinodactyly of the 5th finger, Atrial septal defect, Pectus excav... OMIM:179613
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Cutaneous syndactyly, Overl... OMIM:618316
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Pectus excavatum, Radial deviation of the 2... ORPHA:1388
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Enlarged thorax, Hypoplastic left heart, Atrioventricular can... ORPHA:251071
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Atrioventricular canal defect, Congenital hip dislocation, Ventricular septal defe... OMIM:306955
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Bifid ribs, Rib fusion, Overlapping toe, Pectus excavatum, Atrial septal defect, Sprengel anomaly... OMIM:213980
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Brachydactyly, Short thumb, Pulmonary artery atresi... ORPHA:401935
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Phaver Syndrome
Myelomeningocele, Butterfly vertebrae, Broad hallux phalanx, Camptodactyly of finger, Coarctation... ORPHA:2876
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Pectus excavatum, Atrioventricular canal defect, Short neck, Ventricular septal de... ORPHA:508498
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Bowing of the long bones, Short long bone, Thoracic hypoplasia, Abnormal h... ORPHA:1505
Emanuel Syndrome
Kyphoscoliosis, Hydrocephalus, Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Co... ORPHA:96170
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... ORPHA:2790
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Hemivertebrae, Block vertebrae, Scoliosis, Missing r... OMIM:304050
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... OMIM:617405
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Adams-Oliver Syndrome 6
Cutis marmorata, Brachydactyly, Syndactyly, Ventricular septal defect, Foot oligodactyly, Truncus... OMIM:616589
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Overlapping toe, Atrial septal defect, Cyanosis, Tetralogy of Fallot, Ventricu... OMIM:617478
Kyphomelic Dysplasia
Narrow chest, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebral bodies, Missing... ORPHA:1801
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Cyanosis... OMIM:616749
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Brachydactyly, Dextrotransposition of the great arteries, Scoliosis, Ventricular septal defect, S... OMIM:619995
Emanuel Syndrome
Kyphosis, Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, Congenital hip dislocat... OMIM:609029
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Ventricular septal defect,... ORPHA:93267
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Transposition ... ORPHA:1727
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Stankiewicz-Isidor Syndrome
2-3 toe syndactyly, Absent thumb, Short thumb, Ventricular septal defect, Sacral dimple, Patent d... OMIM:617516
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Vater/Vacterl Association
Abnormal sternum morphology, Hypoplasia of the radius, Preaxial polydactyly, Syndactyly, Scoliosi... OMIM:192350
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Clinodactyly, Patent foramen ovale, Short neck OMIM:616789
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Atrial septal defect, Abnormal aortic valve morphology, Scoliosis, Abnormal vertebral... ORPHA:261197
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Atrial septal defect, Spina bifida occulta, Abn... ORPHA:2475
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Cyanosis, Coarctation o... ORPHA:3426
Autosomal Recessive Robinow Syndrome
Pectus excavatum, Short neck, Pectus carinatum, Ventricular septal defect, Sandal gap, Umbilical ... ORPHA:1507
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Coarctation of aorta, Abnormal vertebral morphology, Ethmoidal encephalo... ORPHA:280195
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis, Tapered finger, Short finger OMIM:302000
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck, Tetralogy of Fallot, Communicating hy... ORPHA:1780
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Pulmonic stenosis, Femoral bowing, Situs inversus totalis, Hypertrophic ca... OMIM:615415
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Femoral-Facial Syndrome
Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Ventricular septal defect, Sprenge... OMIM:134780
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasia, Narrow gr... ORPHA:168549
Aicardi Syndrome
Bifid ribs, Rib fusion, Butterfly vertebrae, Small hand, Scoliosis, Missing ribs, Block vertebrae... ORPHA:50
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... OMIM:187760
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Ververi-Brady Syndrome
Metaphyseal irregularity, Clinodactyly of the 5th finger, Scoliosis, Transposition of the great a... OMIM:617982
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Kyphosis, Aortic valve stenosis, Prominent ste... OMIM:253010
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology, Tetralogy of Fallot ORPHA:276422
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... OMIM:615297
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology, Hydrocephalus OMIM:300864
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot, Split foot OMIM:601348
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... ORPHA:1686
Noonan Syndrome 12
Spinal canal stenosis, Pectus excavatum, 11 pairs of ribs, Tetralogy of Fallot, Ventricular septa... OMIM:618624
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Klippel-Feil Syndrome 2, Autosomal Recessive
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Ventricular septal defe... OMIM:214300
Autosomal Recessive Multiple Pterygium Syndrome
Vertebral segmentation defect, Rib fusion, Pectus excavatum, Abnormal sternum morphology, Camptod... ORPHA:2990
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Mucopolysaccharidosis, Type Iva
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... OMIM:253000
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Short... OMIM:602271
Acrocardiofacial Syndrome
Mitral stenosis, Atrial septal defect, Finger syndactyly, Split foot, Camptodactyly of finger, Co... ORPHA:2008
Desbuquois Syndrome
Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Small hand, Cam... ORPHA:1425
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, 2-3 toe syndactyly, Atrial septal defect, Pulmonic stenosis, Cyano... ORPHA:3304
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Thin ribs, Short ribs, Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis,... OMIM:271520
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... OMIM:600001
1P36 Deletion Syndrome
Bifid ribs, Abnormal cardiac septum morphology, Rib fusion, Clinodactyly of the 5th finger, Kypho... ORPHA:1606
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Broad metacarpals, Bicuspid aortic valve, Atrial septal defect, Os... ORPHA:371428
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Hydrocephalus, Hemivertebrae, Brachydactyly, Scoliosis, Abnormal form of the ve... ORPHA:2180
Primary Ciliary Dyskinesia
Double outlet right ventricle, Hydrocephalus, Anomalous pulmonary venous return, Situs inversus t... ORPHA:244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Hydrocephalus, Atrial septal defect, Spinal rigidity, Holoprosencephaly, Pul... OMIM:253800
Neuralgic Amyotrophy
Sprengel anomaly, Scapular winging, Acrocyanosis ORPHA:2901
Rare Circulatory System Disease
Abnormality of finger, Arterial calcification, Spinal rigidity, Abnormal metatarsal morphology, C... ORPHA:98028
Pallister-Hall Syndrome
Rib fusion, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, Holoprosencephaly, Hemiverteb... OMIM:146510
Diaphanospondylodysostosis
Myelomeningocele, Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent... ORPHA:66637
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Dextrocardia, Supernumerary ribs, Vertebral fusion OMIM:221950
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus, 11 pairs of ribs, Ventricular septal defect, Aortic root aneurysm, Rib fusion, Cli... OMIM:607872
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Cone-shaped epiphysis, B... ORPHA:474
Microphthalmia, Syndromic 3
Rib fusion, Butterfly vertebrae, Hemivertebrae, Ventricular septal defect, Patent ductus arterios... OMIM:206900
Cooper-Jabs Syndrome
Abnormal hip bone morphology, Camptodactyly of finger, Scoliosis, Ventricular septal defect, Abno... ORPHA:1488
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Narrow greater sc... OMIM:608728
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... OMIM:184250
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Platyspondyly, Broad ... OMIM:271650
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Schneckenbecken Dysplasia
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Lateral clavicle h... OMIM:269250
Short Stature And Facioauriculothoracic Malformations
Pectus excavatum, Short neck, Pectus carinatum, Ventricular septal defect, Cervical ribs, Abnorma... OMIM:609654
Distal 22Q11.2 Microdeletion Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Atrial septal defect, Arachnodact... ORPHA:261330
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Short palm, Platyspondyly, Flared, irregular rib ends ORPHA:168555
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Platyspondyly, Synostosis of carpal bones, Upper limb undergrowth, Pectus carinatum, A... ORPHA:93351
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Jaundice, Death in infancy, Epiphyseal stippling OMIM:614876
Multiple Pterygium Syndrome, Escobar Variant
Rib fusion, Dislocated radial head, Kyphosis, Anterior clefting of vertebral bodies, Long clavicl... OMIM:265000
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Clinodactyly of the 5th finger, Patent ductus arteriosus, Scoliosis OMIM:619717
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aorti... OMIM:619698
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the... OMIM:268310
Prune Belly Syndrome
Vertebral segmentation defect, Pectus excavatum, Atrial septal defect, Congenital hip dislocation... ORPHA:2970
Chromosome 16P13.3 Duplication Syndrome
Short toe, Pectus excavatum, Atrial septal defect, Short phalanx of finger, Tapered finger, Long ... OMIM:613458
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Holt-Oram Syndrome
Pectus excavatum, Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Ventricular septal... OMIM:142900
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Pelvis-Shoulder Dysplasia
Hydrocephalus, Absent proximal finger flexion creases, Aplasia/Hypoplasia of the fibula, Hypoplas... ORPHA:2839
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Sprengel anomaly, Kyphosis, Atrial septal defect, Pulmonic stenosi... OMIM:618223
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Hypoplastic ilia, Flared met... ORPHA:93359
Nevus Comedonicus Syndrome
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Abnormal vertebral morphology, Spina bifid... ORPHA:64754
Robinow Syndrome
Tricuspid atresia, Pulmonary valve atresia, Rib fusion, Short distal phalanx of finger, Atrial se... ORPHA:97360
Neu-Laxova Syndrome 1
Yellow subcutaneous tissue covered by thin, scaly skin, Short umbilical cord, Short neck, Camptod... OMIM:256520
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Metaphyseal cupping, Thin ribs, Short ribs, Disc-like vertebral bodies, Hypoplastic... OMIM:151210
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Short neck, Platyspondyly, Scoliosis, Pectus carinatum, Hyperlor... ORPHA:582
Diastrophic Dysplasia
Kyphosis, Abnormal clavicle morphology, Hypoplastic cervical vertebrae, Camptodactyly of finger, ... ORPHA:628
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Platyspondyly, Abnormal femoral head morphology, Hypoplasia of th... ORPHA:239
Osteogenesis Imperfecta, Type Ix
Kyphosis, Pectus excavatum, Platyspondyly, Scoliosis, Pectus carinatum, Short lower limbs, Beaded... OMIM:259440
Fibrochondrogenesis 1
Short neck, Platyspondyly, Dumbbell-shaped long bone, Posterior rib cupping, Thoracic hypoplasia,... OMIM:228520
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Pentalogy Of Cantrell
Hydrocephalus, Abnormal sternum morphology, Atrial septal defect, Abnormal pericardium morphology... ORPHA:1335
Melnick-Needles Syndrome
Short distal phalanx of finger, Abnormal cardiac septum morphology, Cone-shaped epiphyses of the ... ORPHA:2484
Cog1-Cdg
Posterior rib gap, Rib fusion, Vertebral segmentation defect, Kyphoscoliosis, Coxa valga, Butterf... ORPHA:263508
Mucolipidosis Iii Gamma
Kyphosis, Flat capital femoral epiphysis, Aortic valve stenosis, Flared iliac wing, Abnormal rib ... OMIM:252605
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Clinodactyly of the 5th finger, Left ventricular hypertrophy, Dextrotransp... OMIM:618619
Spondylometaphyseal Dysplasia, Kozlowski Type
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Delayed oss... OMIM:184252
Brachydactyly, Type B1
Hypoplastic sacrum, Hemivertebrae, Syndactyly, Type B brachydactyly, Aplasia/Hypoplasia of the di... OMIM:113000
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Sacral dimple, Atrial septal defect, Scoliosis OMIM:608227
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Double... ORPHA:2255
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Pulmonary valve atresia, Parachute mitr... OMIM:265380
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus, Lateral clavicle hook, Short r... OMIM:615630
Thanatophoric Dysplasia, Type I
Narrow chest, Wide-cupped costochondral junctions, Metaphyseal irregularity, Small abnormally for... OMIM:187600
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Pectus excavatum, Hyperphalangy of the 2nd finger, Ulnar deviatio... OMIM:616145
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal cardiac septum morphology, Abnormal form of the vertebral bodies ORPHA:93941
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Short nec... ORPHA:2522
Cerebrocostomandibular Syndrome
Posterior rib gap, Kyphosis, Myelomeningocele, Clinodactyly of the 5th finger, Bell-shaped thorax... ORPHA:1393
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Clinodactyly of the 5th finger, Tapered toe, Vascular skin abnormality, Tapered finge... ORPHA:544488
Frank-Ter Haar Syndrome
Double outlet right ventricle, Kyphosis, Kyphoscoliosis, Pectus excavatum, Atrial septal defect, ... OMIM:249420
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Ventricular septal defect, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Rib fusion, Kyphosis, Atrial septal defect, Split hand, Arach... ORPHA:280
3C Syndrome
Abnormal mitral valve morphology, Kyphosis, Hydrocephalus, Atrial septal defect, Aortic valve ste... ORPHA:7
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Ventricular septal defect, Epiphyseal stippling of toe phalanges, Cervical ver... ORPHA:79345
Kbg Syndrome
Rib fusion, Clinodactyly of the 5th finger, Ulnar deviation of the 2nd finger, Cutaneous syndacty... OMIM:148050
3M Syndrome
Kyphosis, Enlarged thorax, Clinodactyly of the 5th finger, Increased vertebral height, Thin ribs,... ORPHA:2616
Cyanosis And Hepatic Disease
Cyanosis, Clubbing OMIM:219400
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal cupping, Thin ribs, Platysp... OMIM:300863
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Gm1-Gangliosidosis, Type I
Thickened ribs, Kyphosis, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Cherry red s... OMIM:230500
Thoracic Outlet Syndrome
Abnormal rib morphology, Varicose veins ORPHA:97330
Chime Syndrome
Pulmonary valve atresia, Aplasia/Hypoplasia of the phalanges of the toes, Erythema, Tetralogy of ... ORPHA:3474
Baller-Gerold Syndrome
Rib fusion, Carpal synostosis, Hydrocephalus, Hypoplasia of the radius, Carpal bone aplasia, Shor... OMIM:218600
Microphthalmia, Syndromic 9
Atrial septal defect, Pulmonic stenosis, Single ventricle, Coarctation of aorta, Tetralogy of Fal... OMIM:601186
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Ho... OMIM:615633
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
2-3 toe syndactyly, Atrial septal defect, Pectus excavatum, Butterfly vertebrae, Finger joint hyp... OMIM:618870
Achondrogenesis Type 1B
Narrow chest, Short neck, Abnormal rib morphology, Short thorax, Short foot, Umbilical hernia ORPHA:93298
Cantú Syndrome
Short distal phalanx of finger, Narrow chest, Finger syndactyly, Broad hallux phalanx, Short neck... ORPHA:1517
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Ectrodactyly, Abnormality of finger, Atrial septal defect, Abnormality of the humeru... ORPHA:2538
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... OMIM:200610
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Thin ribs, Platy... OMIM:618395
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Hammertoe, Abn... ORPHA:2319
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Clinodactyly of the 5th finge... ORPHA:3320
Mcdonough Syndrome
Kyphoscoliosis, Pectus excavatum, Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis,... OMIM:248950
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Lethal Congenital Contracture Syndrome 10
Narrow chest, Thoracic scoliosis, Adducted thumb, Overlapping fingers, Short neck, Ventricular se... OMIM:617022
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Holoprosencephaly, Hemivertebrae, 11 pairs of ribs, Ventricular septal defect, Pat... ORPHA:77298
22Q11.2 Deletion Syndrome
Tricuspid atresia, Hydrocephalus, Short neck, Ventricular septal defect, Umbilical hernia, Scolio... ORPHA:567
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Cyanosis, Abnormal coronary artery morp... ORPHA:980
Cardiospondylocarpofacial Syndrome
Rib fusion, Carpal synostosis, Atrial septal defect, Muscular ventricular septal defect, Cone-sha... OMIM:157800
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Narrow chest, Short toe, Pectus excavatum, Camptodactyly of finge... ORPHA:1327
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Hydrocephalus, Thoracic scoliosis, Atrial septal defect, Postaxial polydactyly, Ventric... OMIM:603387
Fetal Minoxidil Syndrome
Ventricular septal defect, Clinodactyly of the 5th finger, Umbilical hernia ORPHA:1918
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Short neck, Vertebral segmentation defect ORPHA:2578
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart, Abnormal rib morphology ORPHA:2772
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs, Intestinal lymphangiectasia OMIM:152800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Abnormality of the c... ORPHA:163966
Congenital Disorder Of Glycosylation, Type Iig
Vertebral segmentation defect, Butterfly vertebrae, Small hand, Left ventricular hypertrophy, Sho... OMIM:611209
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... OMIM:605376
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vertebral segmentation defect, Abnormal hip bone morphology, Tetralogy of Fallot, Ventricular sep... ORPHA:1166
Mosaic Trisomy 14
Abnormal rib morphology, Camptodactyly of finger, Narrow chest, Short neck ORPHA:1703
Alagille Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Peripheral pulmonary artery stenos... ORPHA:52
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... ORPHA:3097
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, E... ORPHA:2911
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septa... OMIM:614326
Fountain Syndrome
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Pectus excavatum, Cutis marmorat... ORPHA:3219
Feingold Syndrome Type 2
Brachydactyly, Ventricular septal defect, Short middle phalanx of finger, Short thumb, Toe syndac... ORPHA:391646
Facial Dysmorphism With Multiple Malformations
Hydrocephalus, Hemivertebrae, Tetralogy of Fallot, Ventricular septal defect, Transposition of th... OMIM:227255
Cardiofaciocutaneous Syndrome 3
Pectus excavatum, Atrial septal defect, Pulmonic stenosis, Short neck, Scoliosis, Ventricular sep... OMIM:615279
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Pectus excavatum, Short sternum, 2-3 finger syndactyly, Pectus carinatum, Ventricu... OMIM:312870
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Death in childhood, Atrial septal defect OMIM:253300
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short ribs, Brac... OMIM:617895
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Broad hallux phalanx, Sh... ORPHA:3082
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Death in... OMIM:613759
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Coxa vara, Prominent sternum, Flared iliac wing, Thin ribs, Metaphyseal widening, Short neck, Ant... OMIM:300232
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Holoprosencephaly, Scoliosis, Anterior encephalocele, Ventricular septal defect, Foo... OMIM:601357
Thoracoabdominal Syndrome
Hydrocephalus, Anencephaly, Ectopia cordis, Patent ductus arteriosus, Transposition of the great ... OMIM:313850
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, 2-3 toe syndactyly, Atrial septal defect, V... ORPHA:477817
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Coat hanger sign of ribs, Ventricular septal defect, Umbilical hernia,... ORPHA:254534
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Abn... OMIM:249670
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Lethal Kniest-Like Dysplasia
Narrow chest, Hypoplastic vertebral bodies, Atrial septal defect, Short ribs, Hypoplastic ilia, F... ORPHA:2347
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Atrial septal defect, Short ribs, Ventricular septal defect, Postaxi... ORPHA:2519
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Short neck, Abnormal form of the vertebral bodies ORPHA:2234
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Pectus excavatum, Camptodactyly of finger, Synostosis of carpal b... ORPHA:957
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Butterfly vertebrae, Pulmonic stenosis, Overlapping fingers, Pulmo... OMIM:301056
Kniest-Like Dysplasia, Lethal
Narrow chest, Metaphyseal irregularity, Hypoplastic vertebral bodies, Atrial septal defect, Short... OMIM:245190
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Scoliosis, Ovoid thoracolumbar vertebrae, Umbilical hernia, Asymmetric septal hyp... OMIM:252900
Restrictive Dermopathy
Atrial septal defect, Thin ribs, Aplasia/Hypoplasia of the clavicles, Thin clavicles, Camptodacty... ORPHA:1662
Wolf-Hirschhorn Syndrome
Hydrocephalus, Radioulnar synostosis, Ventricular septal defect, Sacral dimple, Rib fusion, Scoli... OMIM:194190
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... OMIM:250420
Achondrogenesis Type 1A
Narrow chest, Multiple rib fractures, Short neck, Short thorax, Short foot, Umbilical hernia, Sho... ORPHA:93299
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Right aortic arch, Bifid sternum, Coarctation of aorta OMIM:140850
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Abnormally ossified vertebrae, Short neck, Pectus carinatum, ... ORPHA:175
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Aqueductal stenosis, Abnormally ossified vertebrae, Abnormal rib mo... ORPHA:3035
Joubert Syndrome 18
Ventricular septal defect, Kyphoscoliosis, Polydactyly, Camptodactyly OMIM:614815
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... OMIM:118100
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology, Slender long bone, Abnormal pelvic girdle bone morphology ORPHA:1506
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Short neck, Abnormal form of the vertebral bodies, Slender long bon... ORPHA:1486
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Communicating hydrocephalus, Abnormal... ORPHA:2050
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Butterfly vertebrae, Alobar holoprosencephaly, Hypoplastic left he... OMIM:301043
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Vacterl Association With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Absent thumb, Radial club hand, Abnormality of the vertebral ... OMIM:276950
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot ORPHA:217
Zttk Syndrome
Rib fusion, Kyphosis, Atrial septal defect, Small hand, Hemivertebrae, Scoliosis, Ventricular sep... OMIM:617140
Trisomy 13
Narrow chest, Ectrodactyly, Kyphosis, Atrial septal defect, Scoliosis, Ventricular septal defect,... ORPHA:3378
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Scoliosis, Thoracic kyphoscoliosis ORPHA:98913
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Down Syndrome
Double outlet right ventricle, Atrial septal defect, Atrioventricular canal defect, Atlantoaxial ... OMIM:190685
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Absent thumb, Hand oligodactyly, Hypopl... OMIM:156810
Tarp Syndrome
Hypoplasia of proximal radius, Pectus excavatum, Short sternum, Atrial septal defect, Postaxial p... ORPHA:2886
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormal vertebral morphology, Abnormality of the vertebral column, Tetralogy of Fallot OMIM:250620
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short humerus, Short neck, Short femoral neck, Scoliosis, Biconcave ... OMIM:610319
Grant Syndrome
Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Abnormal rib morphology, Bowing... ORPHA:2097
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Hydrocephalus, 2-3 toe syndactyly, Atrial septal defect, Holoprosencephaly, He... OMIM:264480
Primary Non-Essential Cutis Verticis Gyrata
Ventricular septal defect, Atrial septal defect, Scoliosis ORPHA:357225
Fibrochondrogenesis
Narrow chest, Short ribs, Camptodactyly of finger, Short neck, Brachydactyly, Abnormal form of th... ORPHA:2021
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Kyphosis, Short neck, Genu valgum, Broad ribs, Ovoid vertebral bodies, Abno... ORPHA:583
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Hydrocephalus, Bowing of the long bones, Encephalocele, Carpa... ORPHA:90652
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal form of the vertebral bod... ORPHA:2759
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia, Cervical ribs, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Becker Nevus Syndrome
Hemivertebrae, Cervical ribs, Pectus excavatum, Scoliosis OMIM:604919
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Pectus excavatum, Atrial septal defect, Arachnodactyly, Scoliosis, Pectus carinatum, Camptodactyl... OMIM:301039
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Communicating hydrocephalus, Tetralogy of Fallot, Abnormal tho... ORPHA:2184
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Anencephaly, Tetralogy of Fallot, Pulmonary artery atresia, Ven... ORPHA:1908
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Short femur, Short ribs, Adducted thumb, Flared metaphysis, Multiple ... OMIM:616897
Achondrogenesis, Type Ia
Narrow chest, Bowing of the legs, Short clavicles, Stillbirth, Short ribs, Hypoplasia of the radi... OMIM:200600
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Kyphoscoliosis, Atrial septal defect, Adducted thumb, Arachnodactyly, Shor... OMIM:121050
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Overlapping toe, Atrial septal defect, Syndactyly, Scoliosis, Cam... OMIM:300963
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ve... OMIM:271640
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Short neck, Anencephaly, Ventricular septal defect, Short long bone, Short ribs, B... OMIM:269860
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Hypoplastic distal segments of scapulae, Pectus excavatum OMIM:602196
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Clinodactyly of the 5th finger, Broad 2nd toe, Tetralogy of... OMIM:280000
Kagami-Ogata Syndrome
Kyphoscoliosis, Atrial septal defect, Thin ribs, Long clavicles, Pulmonic stenosis, Long fingers,... OMIM:608149
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Toe syndactyly ORPHA:251076
Noonan Syndrome 8
Abnormal sternum morphology, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertroph... OMIM:615355
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphyses of the phalanges of the hand, Short neck, 11 pairs of ribs, Platyspondyly, ... OMIM:250220
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... OMIM:184253
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Slender finger, Pect... ORPHA:329224
Meckel Syndrome 14
Postaxial polydactyly, Holoprosencephaly, Single ventricle, Cyanosis, Short neck, Syndactyly, Pos... OMIM:619879
Limb Body Wall Complex
Hydrocephalus, Aplasia of the proximal phalanges of the hand, Anencephaly, Ventricular septal def... ORPHA:2369
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Prominent sternum, Pectus carinatum, Genu valgum, Broad ribs, Ovoid vertebral bodi... OMIM:253200
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Drumstick terminal phalanges, Hydrocephalus, Cutis marmorata, Death in childhood, Short neck, Bra... OMIM:612938
Oculoauriculofrontonasal Syndrome
Ventricular septal defect, Encephalocele, Scoliosis ORPHA:398156
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy OMIM:614947
Vacterl/Vater Association
Vertebral segmentation defect, Abnormal cardiac septum morphology, Preaxial hand polydactyly, Ane... ORPHA:887
Hurler Syndrome
Spinal canal stenosis, Hydrocephalus, Abnormal clavicle morphology, Camptodactyly of finger, Shor... ORPHA:93473
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Hydrocephalus, Patent ductus arteriosus, Atrial septal defect OMIM:614886
Caudal Duplication
Vertebral segmentation defect, Myelomeningocele, Bifid sacrum, Abnormal sacrum morphology, Spina ... ORPHA:1756
Chromosome 6Pter-P24 Deletion Syndrome
Hydrocephalus, Clinodactyly of the 5th finger, Atrial septal defect, Pectus excavatum, Short neck... OMIM:612582
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Lateral clavicle hook, Short ribs, Postaxial polydactyly, Femoral... OMIM:615503
Mmep Syndrome
Ventricular septal defect, Triphalangeal thumb, Split foot ORPHA:3434
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Cyanosis, Spina bifida, Cervical myelopathy OMIM:207950
8Q24.3 Microdeletion Syndrome
Pectus excavatum, Atrioventricular canal defect, Congenital hip dislocation, Finger clinodactyly,... ORPHA:508488
Czeizel-Losonci Syndrome
Myelomeningocele, Ectrodactyly, Hydrocephalus, Split foot, 2-3 finger syndactyly, Spina bifida oc... ORPHA:2437
Ellis-Van Creveld Syndrome
Narrow chest, Acetabular spurs, Ectodermal dysplasia, Atrial septal defect, Short ribs, Cone-shap... OMIM:225500
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida, Camptodactyly OMIM:211960
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Urticaria, Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Ventricu... OMIM:154400
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Short sternum, Abnormal heart morphology OMIM:184800
Pallister-Hall Syndrome
Atrioventricular canal defect, Hemivertebrae, Ventricular septal defect, Umbilical hernia, Polyda... ORPHA:672
Cleidocranial Dysplasia
Narrow chest, Coxa vara, Short clavicles, Clinodactyly of the 5th finger, Down-sloping shoulders,... ORPHA:1452
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... OMIM:274000
Greenberg Dysplasia
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... OMIM:215140
Cat-Eye Syndrome
Abnormal rib morphology, Hip dysplasia ORPHA:195
Osteogenesis Imperfecta, Type Ii
Tibial bowing, Thin ribs, Platyspondyly, Crumpled long bones, Bell-shaped thorax, Thoracic hypopl... OMIM:166210
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot OMIM:617992
King-Denborough Syndrome
Kyphoscoliosis, Lumbar hyperlordosis, Short neck, Scoliosis, Ventricular septal defect, Thoracic ... OMIM:619542
Tetrasomy 5P
Overlapping toe, Hydrocephalus, Pectus excavatum, Clinodactyly of the 5th finger, Cyanosis, Short... ORPHA:3309
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Cholesterol Pneumonia
Cyanosis, Death in infancy OMIM:215030
Acromesomelic Dysplasia 4
Broad phalanx, Prominent sternum, Platyspondyly, Broad finger, Genu valgum, Sandal gap, Umbilical... OMIM:619636
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, Toe clinodactyly, Patent ductus arteriosus, Toe syndactyly ORPHA:261120
Campomelia, Cumming Type
Prematurely aged appearance, Abnormally ossified vertebrae, Brachydactyly, Abnormal thorax morpho... ORPHA:1318
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Craniofaciofrontodigital Syndrome
Pectus excavatum, Hypoplastic vertebral bodies, Palmoplantar cutis laxa, Short neck, Hypoplastic ... OMIM:114620
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Bowing of the legs, Squared-off platys... ORPHA:93352
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Hydrocephalus, Short neck, Scoliosis, Abnormal form of the vertebr... ORPHA:1834
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus, Postaxial hand poly... ORPHA:83473
Mosaic Trisomy 9
Supernumerary ribs, Atrial septal defect, Hemivertebrae, Camptodactyly of finger, Short neck, Fin... ORPHA:99776
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... OMIM:618719
Carpenter Syndrome 2
Pectus excavatum, Short neck, Pectus carinatum, Umbilical hernia, Clinodactyly of the 5th finger,... OMIM:614976
Acro-Renal-Mandibular Syndrome
Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Butterfly vertebrae, Thin ribs, Split f... ORPHA:958
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap ORPHA:2515
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Thickened ribs, Ovoid thoracolumbar vertebrae, Cardiomegaly OMIM:252920
Lambert Syndrome
Ventricular septal defect, Jaundice, Branchial anomaly ORPHA:1296
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Diaphyseal sclerosis OMIM:122860
Trisomy 1Q
Hydrocephalus, Arachnodactyly, Camptodactyly of finger, Ventricular septal defect, Abnormal rib m... ORPHA:261344
Larsen Syndrome
Cervical kyphosis, Beaking of vertebral bodies, Short metatarsal, Accessory carpal bones, Atrial ... OMIM:150250
Fibular Hemimelia
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Abnormal h... ORPHA:93323
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Three M Syndrome 2
Lumbar hyperlordosis, Thin ribs, Short neck, Short 5th finger, Slender long bone, Prominent calca... OMIM:612921
Roifman Syndrome
Irregular vertebral endplates, Short toe, Clinodactyly of the 5th finger, Biconvex vertebral bodi... OMIM:616651
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Cyanosis OMIM:263000
3P25.3 Microdeletion Syndrome
Overlapping toe, Atrial septal defect, Postaxial polydactyly, Pulmonic stenosis, 2-3 finger synda... ORPHA:435638
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Abnormal scapula morphology, Cone-shaped epiphysis, Iliac crest serration, Platyspo... ORPHA:93317
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Cyanosis, Pulmonary artery hypoplasia, Anomalous origin of left co... ORPHA:2326
Codas Syndrome
Coronal cleft vertebrae, Congenital hip dislocation, Brachydactyly, Scoliosis, Abnormal form of t... ORPHA:1458
Nail-Patella Syndrome
Hypoplasia of first ribs, Clinodactyly of the 5th finger, Disproportionate prominence of the femo... OMIM:161200
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Thin ribs, Abnormal cervical curvature, Vertebral fusion, Short finger OMIM:312150
Aphalangy With Hemivertebrae
Aplasia of the phalanges of the toes, Hemivertebrae, Ventricular septal defect, Aphalangy of hand... OMIM:207620
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Tapered finger,... OMIM:617159
Diamond-Blackfan Anemia 7
Sprengel anomaly, Secundum atrial septal defect, Scoliosis, Tetralogy of Fallot, Ventricular sept... OMIM:612562
Maternal Phenylketonuria
Double outlet right ventricle, Hypoplastic left heart, Brachydactyly, Coarctation of aorta, Tetra... ORPHA:2209
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Cyanosis, Pat... ORPHA:439
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Beaking of vertebral bodies, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Asymm... OMIM:252930
Dextrocardia
Hydrocephalus, Congenital malformation of the great arteries, Congenital hip dislocation, Situs i... ORPHA:1666
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Short long bone, Multiple rib fractures, Bruising susceptibility, Platyspondyly, An... OMIM:616229
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormal rib morphology, Sprengel anomaly, Abnormality of the vertebral column OMIM:601076
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Cutis marmorata, Syndactyly, Polydactyly, Ventricular septal defect OMIM:602501
Dysosteosclerosis
Narrow chest, Irregular vertebral endplates, Abnormal metaphyseal trabeculation, Short sternum, H... OMIM:224300
Pagod Syndrome
Abnormal clavicle morphology, Hypoplastic left heart, Situs inversus totalis, Abnormal rib morpho... ORPHA:991
Restrictive Dermopathy 2
Short clavicles, Overtubulated long bones, Cyanosis OMIM:619793
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral chest hypoplasia, Abnormality of the vertebral column, Scoliosis, Postaxial hand polyd... OMIM:308205
Spondylo-Ocular Syndrome
Platyspondyly, Short neck, Ventricular septal defect, Thoracic kyphosis, Abnormal intervertebral ... ORPHA:85194
Cenani-Lenz Syndrome
Hypoplasia of the radius, Synostosis of carpal bones, Scoliosis, Short thumb, Radioulnar synostos... ORPHA:3258
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Overlapping toe, Atrial septal defect, Down-sloping shoulders, Short neck, Scoliosis, Tapered fin... OMIM:617452
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Stroke, Atrial septal defect, Aortic valve stenosis, Anomalous branches of... ORPHA:363705
Apnea, Central Sleep
Cyanosis OMIM:207720
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Coxa vara, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Vertebral clefting, Hemivertebrae,... OMIM:614701
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Hydrocephalus, Femoral bowing, Short 1st metacarpal, 11 pairs... OMIM:114290
Lateral Meningocele Syndrome
Kyphosis, Pectus excavatum, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Hyperlo... ORPHA:2789
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... ORPHA:85167
Weill-Marchesani Syndrome 1
Broad metacarpals, Spinal canal stenosis, Lumbar hyperlordosis, Aortic valve stenosis, Pulmonic s... OMIM:277600
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Ovoid vertebral bodies, Thoracic hypopl... OMIM:618019
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Thin ribs, Abnormal cervical curvature, Vertebral fusion, Short finger OMIM:253290
Congenital Heart Defects And Skeletal Malformations Syndrome
Pectus excavatum, Atrial septal defect, Arachnodactyly, Cutis marmorata, Finger clinodactyly, Coa... OMIM:617602
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Short clavicles, Telangiectasia of the skin, Short ribs, Spli... ORPHA:2092
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Cole-Carpenter Syndrome 2
Kyphosis, Hydrocephalus, Pectus excavatum, Thin ribs, Platyspondyly, Narrow iliac wing OMIM:616294
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Pectus excavatum, Atrial septal defect, Abnormal sternum ... ORPHA:2847
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Coffin-Siris Syndrome 10
Ventricular septal defect, Clinodactyly OMIM:618506
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Clinodactyly of the 5th finger, Atrial septal defect, 2-3 toe syndactyly, Pectus excava... OMIM:617061
Galloway-Mowat Syndrome 7
Kyphoscoliosis, Pectus excavatum, Arachnodactyly, Partial duplication of thumb phalanx, Ventricul... OMIM:618348
Timothy Syndrome
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Patent ductus a... OMIM:601005
Acalvaria
Postaxial hand polydactyly, Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Narrow chest, Atrial septal defect, Lateral clavicle hook, Short ribs, Platyspondyly, Brachydacty... OMIM:263520
Noonan Syndrome 2
Mitral stenosis, Pectus excavatum, Atrial septal defect, Abnormal sternum morphology, Atrioventri... OMIM:605275
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Bicuspid aortic valve, Short 5th finger, Scoliosis, Ventricular septal defect, Patent ductus arte... ORPHA:500159
Hypophosphatasia
Abnormal rib morphology, Abnormal metaphysis morphology, Narrow chest, Bowing of the long bones ORPHA:436
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... ORPHA:555874
Noonan Syndrome 4
Pectus excavatum, Atrial septal defect, Abnormal sternum morphology, Bruising susceptibility, Pul... OMIM:610733
Charge Syndrome
Hemivertebrae, Down-sloping shoulders, Ventricular septal defect, Hypoplasia of the ulna, Umbilic... OMIM:214800
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Urticaria, Slender finger, Muscular ventricular septal defec... OMIM:619503
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Hydrocephalus, Pectus excavatum, Minimal subcutaneous fat, Thin ribs, Ara... OMIM:182212
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Anencephaly, Ventricular septal defect, Postaxial hand polyd... OMIM:611134
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Femoral bowing, Biconcave vertebral bodies, Vertebral compression fracture, Bowing of ... OMIM:617952
Osteogenesis Imperfecta, Type Iii
Kyphosis, Tibial bowing, Thin ribs, Biconcave vertebral bodies, Scoliosis, Slender long bone, Pro... OMIM:259420
Congenital Pulmonary Lymphangiectasia
Pulmonic stenosis, Cyanosis, Chylopericardium ORPHA:2414
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, V... OMIM:612946
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Grange Syndrome
Syndactyly, Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus, Short palm ORPHA:79094
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Short ribs, Shallow aceta... OMIM:252600
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Cyanosis, Dextrocardia, Hypoxemia, Patellar hypoplasia, Abnormal p... ORPHA:2257
Fanconi Anemia, Complementation Group B
Hydrocephalus, Absent thumb, Short neck, Coarctation of aorta, Ventricular septal defect, Bilater... OMIM:300514
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Carpal synostosis, Dislocated radial head, Arachnodactyly, Cor p... OMIM:305620
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Tricuspid stenosis, Barrel-shaped chest, Short neck, Hypoplasia of the capital femoral epiphysis,... OMIM:143095
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Pectus carinatum, Hyperlordosis, Ab... ORPHA:3068
Recombinant 8 Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Pectus excavatum, Abnormal sternum morpholo... ORPHA:96167
Hyperparathyroidism, Transient Neonatal
Narrow chest, Femoral bowing, Thin ribs, Short ribs OMIM:618188
Breath-Holding Spells
Cyanosis OMIM:607578
Craniosynostosis, Herrmann-Opitz Type
Split hand, Brachydactyly, Finger syndactyly, Abnormal rib morphology ORPHA:2145
Viss Syndrome
Tortuous cerebral arteries, Pectus excavatum, Aortic tortuosity, Pulmonary artery aneurysm, Pectu... OMIM:619472
Waardenburg Syndrome Type 1
Sprengel anomaly, Scoliosis, Meningocele, Premature graying of hair, Spina bifida ORPHA:894
Noonan Syndrome 10
Mitral stenosis, Pectus excavatum, Atrial septal defect, Pulmonic stenosis, Left ventricular hype... OMIM:616564
Pelger-Huet Anomaly
Kyphosis, Polydactyly, Upper limb undergrowth, Short 3rd metacarpal, Ventricular septal defect, U... OMIM:169400
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Coarctation of aorta, Bell-shaped thorax, Horizontal ribs, Patent ductus ar... OMIM:614857
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Preaxial polydacty... OMIM:617925
Asbestos Intoxication
Myocardial fibrosis, Oxygen desaturation on exertion, Cor pulmonale, Cyanosis, Hypoxemia, Clubbin... ORPHA:2302
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Rib fusion, Kyphoscoliosis, Lumbar hyperlordosis, Atrial septal defect, Abnormal common carotid a... ORPHA:500150
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... OMIM:617604
Wolcott-Rallison Syndrome
Double outlet right ventricle, Metaphyseal dysplasia, Atrial septal defect, Jaundice ORPHA:1667
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis, Abnormal thorax morphology ORPHA:70587
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Right ventricular hypertrophy, Left ventricular... ORPHA:335
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Pectus excavatum, Atrial septal defect, Abnormal rib cage mo... OMIM:270450
Renpenning Syndrome
Sprengel anomaly, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal rib morphology, Abno... ORPHA:3242
Chromosome 1Q41-Q42 Deletion Syndrome
Vertebral segmentation defect, Pectus excavatum, Holoprosencephaly, 3-4 finger cutaneous syndacty... OMIM:612530
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Pectus excavatum, Short neck, Scoliosis, Ventricular septal defect, Patent ductus arteriosus ORPHA:52055
Congenital Myasthenic Syndrome
Kyphoscoliosis, Spinal rigidity, Cyanosis, Congenital hip dislocation, Pectus carinatum, Neuropat... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Kyphoscoliosis, Spinal rigidity, Cyanosis, Congenital hip dislocation, Pectus carinatum, Neuropat... ORPHA:98914
Mosaic Trisomy 16
Atrial septal defect, Single coronary artery origin, Syndactyly, Coarctation of aorta, Short femo... ORPHA:1708
Waardenburg Syndrome Type 3
Abnormality of finger, Atrial septal defect, Camptodactyly of finger, Synostosis of carpal bones,... ORPHA:896
Osteogenesis Imperfecta
Abnormality of femur morphology, Hydrocephalus, Pectus excavatum, Femoral bowing, Biconcave verte... ORPHA:666
Opsismodysplasia
Short palm, Narrow chest, Metaphyseal cupping, Hypoplastic vertebral bodies, Short metacarpal, Sh... OMIM:258480
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Metaphyseal spurs, Lateral clavicle hook, Short ribs, Postaxial p... OMIM:613091
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Kyphoscoliosis, Short ribs ORPHA:1145
Dysosteosclerosis
Irregular vertebral endplates, Hypoplastic vertebral bodies, Platyspondyly, Ventricular septal de... ORPHA:1782
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Duane-Radial Ray Syndrome
Atrial septal defect, Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Short humerus... OMIM:607323
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... OMIM:186500
C Syndrome
Dislocated radial head, Scoliosis, Fused sternal ossification centers, Ulnar deviation of finger,... OMIM:211750
Mosaic Trisomy 20
Narrow chest, Abnormal mitral valve morphology, Spinal canal stenosis, Vertebral segmentation def... ORPHA:1724
X-Linked Intellectual Disability, Nascimento Type
Double outlet right ventricle, Mitral stenosis, Peripheral pulmonary artery stenosis, Overlapping... ORPHA:163956
Li-Ghorbani-Weisz-Hubshman Syndrome
Overlapping toe, Clinodactyly of the 5th finger, Atrial septal defect, Ventricular septal defect,... OMIM:618974
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Ventricular Septal Defect 3
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus OMIM:614432
Fryns Microphthalmia Syndrome
Abnormality of the vertebral column, Neural tube defect OMIM:600776
Fucosidosis
Kyphosis, Vascular skin abnormality, Anterior beaking of lumbar vertebrae, Acrocyanosis, Cardiome... ORPHA:349
Xk Aprosencephaly Syndrome
Ventricular septal defect, Abnormal morphology of the radius, Atrial septal defect ORPHA:3469
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal defect OMIM:614262
Diamond-Blackfan Anemia 6
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Trip... OMIM:612561
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Scoliosis, Ventricular septal defect, Patent ductus arteriosus, Umbilical ... OMIM:617751
Osteogenesis Imperfecta, Type Vii
Narrow chest, Coxa vara, Bowing of the legs, Pectus excavatum, Multiple rib fractures, Femoral re... OMIM:610682
Shwachman-Diamond Syndrome 1
Narrow chest, Coxa vara, Narrow greater sciatic notch, Metaphyseal sclerosis, Myocardial necrosis... OMIM:260400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo... ORPHA:96334
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Death in infancy OMIM:616277
Weill-Marchesani Syndrome 2
Broad metacarpals, Spinal canal stenosis, Lumbar hyperlordosis, Aortic valve stenosis, Pulmonic s... OMIM:608328
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:619189
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Waardenburg Syndrome, Type 1
Sprengel anomaly, Myelomeningocele, Supernumerary vertebrae, Supernumerary ribs, Premature grayin... OMIM:193500
Steinfeld Syndrome
Holoprosencephaly, Hypoplasia of the radius, Abnormality of the vertebral column, Hypoplasia of t... OMIM:184705
Digeorge Syndrome
Intervertebral disc degeneration, Scoliosis, Tetralogy of Fallot, Ventricular septal defect, Pate... OMIM:188400
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Occipital Horn Syndrome
Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Coxa valga,