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Gene: Dvl2 MGI:106613

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dvl2 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dvl2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Death in infancy, Bicuspid aortic valve, Anomalous origin of lef... OMIM:618845
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Kyphosis, Abnormal rib morphol... ORPHA:1354
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Vertebral artery hypoplasia, Abnormal odontoid process morphology, Dextrocardia... OMIM:613686
Tricuspid Atresia
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist... ORPHA:1209
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... OMIM:277300
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Dextrocardia, Rib fusion, Hemivertebrae, Unilateral brachyda... OMIM:173800
16P13.11 Microduplication Syndrome
Ventricular septal defect, Arachnodactyly, Pectus excavatum, Coarctation of aorta, Hand polydacty... ORPHA:261243
Autosomal Dominant Spondylocostal Dysostosis
Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Abnormal thorax morphology, Abnormal heart morphology, Upper limb phocomelia, Abnorma... ORPHA:294975
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Pectus excavatum, Secundum atrial septal defect, Pectus carinatum, Aortic root an... OMIM:619910
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosis, Scoliosis, C... ORPHA:3268
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Sandal gap, Pectus excavatum, Short toe, Prominent sternum, Perimembranous vent... OMIM:617877
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Spina bifida, Kyphos... OMIM:109400
Eng-Strom Syndrome
Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Abnormal cardiac septum mor... ORPHA:1937
Pyknoachondrogenesis
Stillbirth OMIM:265880
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib mor... ORPHA:2345
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusori... OMIM:620294
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger OMIM:601355
Diabetic Embryopathy
Ventricular septal defect, Hydrocephalus, Abnormal sacrum morphology, Spinal dysraphism, Vertebra... ORPHA:1926
Femoral-Facial Syndrome
Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Coxa vara, Abnormal... ORPHA:1988
Verheij Syndrome
Branchial cyst, Vertebral fusion, Ventricular septal defect, Short neck, Clinodactyly, Hemiverteb... OMIM:615583
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Hydroceph... OMIM:314390
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Missing ribs, Hydrocephalus, Hemivertebrae, Double outlet ... OMIM:220210
Holt-Oram Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric... ORPHA:392
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transpositio... ORPHA:1461
Fetal Trimethadione Syndrome
Ventricular septal defect, Transposition of the great arteries, Scoliosis, Atrial septal defect, ... ORPHA:1913
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Bicuspid aortic valve, Spina bifida, Proximal placement of thumb, Abnormal thum... ORPHA:1120
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... ORPHA:860
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Short neck, Atrial septal defect, Clinodactyly... OMIM:201000
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Short neck, Abnormal aortic morphology, Truncus arteriosus, Short dist... ORPHA:2516
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great a... OMIM:306955
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Clinodactyly of the 5th fi... OMIM:179613
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Hydrocephalus, Abnorm... ORPHA:2635
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow chest, Flaring... OMIM:156530
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Proximal placement of thumb, Short neck, Tapered finger, Patent ductus arte... ORPHA:251071
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Hyperextensibility of the finger jo... OMIM:213980
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... ORPHA:2876
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Pectus excavatum, Radial d... ORPHA:1388
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Diaphanospondylodysostosis
Short neck, Missing ribs, Myelomeningocele, Short thorax, Enlarged thorax, Narrow pelvis bone, Ab... ORPHA:66637
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
14Q24.1Q24.3 Microdeletion Syndrome
Brachydactyly, Ventricular septal defect, Short thumb, Abnormal heart morphology, Atrial septal d... ORPHA:401935
Nemaline Myopathy 9
Ventricular septal defect, Narrow chest, Scoliosis OMIM:615731
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... OMIM:616749
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Thoracic kyphosis, Short palm, Clinodactyl... ORPHA:508498
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Perching Syndrome
Cyanosis, Scoliosis, Camptodactyly OMIM:617055
Emanuel Syndrome
Sacral dimple, Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Kyphosc... ORPHA:96170
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Ventricular septal defect, Overlapping toe, Parachute mitral valve, Pectus excavatum, L... OMIM:618316
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Cutis marmorata, Foot oligodactyly, Truncus arteriosus, Br... OMIM:616589
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... OMIM:617405
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... ORPHA:2790
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Scoliosis... ORPHA:1727
Aicardi Syndrome
Block vertebrae, Spina bifida, Missing ribs, Proximal placement of thumb, Rib fusion, Hemivertebr... OMIM:304050
Vater/Vacterl Association
Occipital encephalocele, Syndactyly, Ventricular septal defect, Spina bifida, Absent radius, Shor... OMIM:192350
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Ventricular septal defect, Overlapping toe, Partial anomalous pulmona... OMIM:617478
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax... ORPHA:1801
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Ventricular septal defect, Proximal place... ORPHA:93267
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... OMIM:102510
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Kyphoscoliosis, Short neck, Broad femoral neck, Squared iliac bones, Rib fusi... OMIM:611209
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele, Coarctation of a... ORPHA:280195
Emanuel Syndrome
Sacral dimple, Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Kyphosi... OMIM:609029
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Rib fusion, Abnormal heart morphology, Hand polydactyly, Abnormal aortic valve morp... ORPHA:261197
Stankiewicz-Isidor Syndrome
Sacral dimple, Ventricular septal defect, Absent thumb, Short thumb, Patent ductus arteriosus, 2-... OMIM:617516
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Autosomal Recessive Robinow Syndrome
Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricuspid valve morphology,... ORPHA:1507
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Clinodactyly, Patent foramen ovale, Transposition of the great arteries, Short neck OMIM:616789
Double Outlet Right Ventricle
Cyanosis, Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypopla... ORPHA:3426
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Sacral dimple, Ventricular septal defect, Dextrotransposition of the great arteries, Scoliosis, B... OMIM:619995
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Atrial septal defect,... ORPHA:2475
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Bullous Dystrophy, Hereditary Macular Type
Tapered finger, Acrocyanosis, Short finger, Death in childhood OMIM:302000
Isolated Hemihyperplasia
Myelomeningocele, Asymmetry of the thorax, Scoliosis ORPHA:2128
Ververi-Brady Syndrome
Clinodactyly of the 5th finger, Metaphyseal irregularity, Transposition of the great arteries, Sc... OMIM:617982
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Femoral-Facial Syndrome
Short fourth metatarsal, Hemivertebrae, Dysplastic sacrum, Absent vertebra, Rib fusion, Humerorad... OMIM:134780
Meacham Syndrome
Death in infancy, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Scolios... ORPHA:50
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology ORPHA:276422
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... OMIM:187760
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Short neck, Hemivertebrae, Transposition ... ORPHA:1780
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Rib fusion, Symphalangism affecting... ORPHA:2990
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic a... ORPHA:99050
Noonan Syndrome 12
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Pectus excavatum, Spina... OMIM:618624
Adams-Oliver Syndrome 4
Ventricular septal defect, Cutis marmorata, Short toe, Patent ductus arteriosus, Absent middle ph... OMIM:615297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Spinal rigidity, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Holop... OMIM:253800
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Patent ductus arte... OMIM:600001
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Osteolysis involving bones of the upper limbs, ... ORPHA:371428
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... OMIM:253000
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Sprengel anomaly ORPHA:2901
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow... OMIM:602271
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect, Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 verteb... OMIM:214300
Acrocardiofacial Syndrome
Hallux valgus, Death in infancy, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Mi... ORPHA:2008
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cyanosis, Patent ductus arteriosus, 2-3 toe syndactyly, Clubbing of toes, Clubb... ORPHA:3304
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Hydrocephalus, Clubb... ORPHA:244
Desbuquois Syndrome
Ventricular septal defect, Camptodactyly of finger, Short neck, Coxa valga, Small hand, Coxa vara... ORPHA:1425
1P36 Deletion Syndrome
11 pairs of ribs, Aortic arch aneurysm, Abnormal heart valve morphology, Camptodactyly of finger,... ORPHA:1606
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand... OMIM:146510
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Dextrocardia, Missing ribs, Meningocele, Abnormal tricuspid valve morpho... ORPHA:1759
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Hydrocephalus, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... ORPHA:2180
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Ab... ORPHA:1488
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... OMIM:608728
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Microphthalmia, Syndromic 3
Vertebral fusion, Ventricular septal defect, Missing ribs, Patent ductus arteriosus, Rib fusion, ... OMIM:206900
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Patent foramen ovale... OMIM:607872
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Bowing of the long bones, Toe syndactyly, Ventricular septal defect, Arachnoda... ORPHA:261330
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa vara, Femoral b... OMIM:608940
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... OMIM:269250
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Multiple Pterygium Syndrome, Escobar Variant
Syndactyly, Long clavicles, Arachnodactyly, Down-sloping shoulders, Thoracolumbar scoliosis, Shor... OMIM:265000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Short metatarsal, Abnormal rib morphology, Abnormal carpal morphology, Pectus c... ORPHA:93351
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Abnormal odontoid process morphology, Short neck, Pectus excavatum, Pe... OMIM:609654
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... OMIM:614524
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Prune Belly Syndrome
Congenital hip dislocation, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus... ORPHA:2970
Intellectual Developmental Disorder, Autosomal Recessive 73
Clinodactyly of the 5th finger, Patent ductus arteriosus, Ventricular septal defect, Scoliosis OMIM:619717
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ri... OMIM:619698
Pontine Tegmental Cap Dysplasia
Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Ventricular septal defect, Kyphoscoliosis, M... ORPHA:97360
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Jaundice, Ventricular septal defect, Epiphyseal stippling OMIM:614876
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Femoral bowing, Stillbirth, Aortic valve stenosis, Pu... OMIM:615415
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Ovoid vertebral bodies, Hyperlordosis, Epiphys... OMIM:253010
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx... ORPHA:2839
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus ... OMIM:619657
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Patent foramen ovale, Congenital defect ... ORPHA:2255
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Short lower ... OMIM:259440
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc... ORPHA:64754
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgu... OMIM:252605
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Proximal placement of thumb, Dextrotranspositio... OMIM:618619
Microphthalmia, Syndromic 9
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atrium, Coarctation of aort... OMIM:601186
Diastrophic Dysplasia
Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme... ORPHA:628
Mucopolysaccharidosis Type 4
Bowing of the long bones, Abnormal heart valve morphology, Short neck, Hyperlordosis, Kyphosis, C... ORPHA:582
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Holt-Oram Syndrome
Thoracic scoliosis, Secundum atrial septal defect, Abnormal carpal morphology, Finger clinodactyl... OMIM:142900
Aortic Arch Interruption
Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv... ORPHA:2299
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morphology, Hip dislocation, Con... ORPHA:2484
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora... OMIM:228520
Cog1-Cdg
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion, Posterior r... ORPHA:263508
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypop... OMIM:184252
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat acetabular roof, Short r... OMIM:151210
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Dilation of Virchow-Robin spaces, Tapered toe, Tapered finger, Rib fusion, Clinoda... ORPHA:544488
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Sacral dimple, Ventricular septal defect, Scoliosis OMIM:608227
Cerebrocostomandibular Syndrome
Death in infancy, Ventricular septal defect, Spina bifida, Kyphosis, Myelomeningocele, Meningocel... ORPHA:1393
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hydrocephalus, Abnorma... ORPHA:1335
Frank-Ter Haar Syndrome
Bowing of the long bones, Ventricular septal defect, Anterior concavity of thoracic vertebrae, Ky... OMIM:249420
8Q24.3 Microdeletion Syndrome
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Short neck, Finger clinodactyly, ... ORPHA:508488
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Posterior rib fusion, Neonatal death, Atrial septa... OMIM:265380
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... OMIM:187600
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Spina bifida, S... OMIM:256520
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib... ORPHA:2522
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Sacral dimple, Abnormal heart valve morp... ORPHA:280
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Kbg Syndrome
Vertebral fusion, Syndactyly, Short neck, Rib fusion, Vertebral arch anomaly, Cutaneous syndactyl... OMIM:148050
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Ventricular septal defect... OMIM:113000
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Hypopla... ORPHA:2616
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... OMIM:615633
Chime Syndrome
Ventricular septal defect, Aplastic clavicle, Erythema, Aplasia/Hypoplasia of the phalanges of th... ORPHA:3474
Thoracic Outlet Syndrome
Varicose veins, Abnormal rib morphology ORPHA:97330
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Lateral clavicle hook, Hydrocephalus, Postaxial hand polydactyly, Cone... OMIM:615630
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Short neck, Tapered finger, Hip dislocation, Thin ribs, Irregular vertebr... OMIM:618395
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Atrial septal defect, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Ca... ORPHA:79345
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,... ORPHA:1517
3C Syndrome
Death in infancy, Finger syndactyly, Ventricular septal defect, Abnormal mitral valve morphology,... ORPHA:7
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Ventricular septal defect, Monkey wrench femoral neck, Hyperlordosis, Pectus ex... OMIM:618870
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Double outlet right ventricle, Con... OMIM:618223
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphysea... OMIM:300863
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow chest, Umbilical hernia ORPHA:93298
Absence Of The Pulmonary Artery
Cyanosis, Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal h... ORPHA:980
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Muscular ventricular septal defe... OMIM:157800
Pseudoachondroplasia
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... OMIM:177170
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Death in infancy, Thickened ribs, Abnormal heart valve morphology, S... OMIM:230500
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
22Q11.2 Deletion Syndrome
Short neck, Abnormal aortic arch morphology, Atrial septal defect, Arachnodactyly, Spina bifida, ... ORPHA:567
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... ORPHA:2319
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Scoliosis, Hypertrop... OMIM:616276
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:3097
Mosaic Trisomy 14
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck ORPHA:1703
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart, Abnormal rib morphology ORPHA:2772
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Scapular winging, Sacral dimple, Toe syndactyly, Brachydactyly, Spina bifida, Camp... ORPHA:1327
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Stillbirth, Prominent floating ribs OMIM:152800
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect ORPHA:1918
Alagille Syndrome
Hypoplasia of the ulna, Peripheral pulmonary artery stenosis, Ventricular septal defect, Telangie... ORPHA:52
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast... ORPHA:2476
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac... ORPHA:391646
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Abnormal sternum mo... ORPHA:2911
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Vertebral segmentation defect, Abnormal aortic morphology, Abnormal hi... ORPHA:1166
Heterotaxy, Visceral, 5, Autosomal
Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent du... OMIM:270100
Thoracoabdominal Syndrome
Patent ductus arteriosus, Hydrocephalus, Anencephaly, Transposition of the great arteries, Ectopi... OMIM:313850
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, Abnormalit... ORPHA:163966
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Hemivertebr... ORPHA:77298
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Cutis marmorata, Spin... ORPHA:3219
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, 2-3 toe syndactyl... ORPHA:477817
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... ORPHA:3082
Simpson-Golabi-Behmel Syndrome, Type 1
Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Atrial... OMIM:312870
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Rocker bottom foot, Coxa valga, Postaxial hand polydactyly, Postaxial ... OMIM:301056
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Short neck, Prominent fingertip pads, Atrial septal defect, Clinodactyly o... OMIM:612474
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Short neck, Pectus excavatum, Pulmonic stenosis, Scoliosis, Atrial sep... OMIM:615279
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Large placenta, Abnormal heart morphology, Coat hanger sign of ribs, U... ORPHA:254534
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Asymmetric septal hypertrophy, Scoliosis, Umbilica... OMIM:252900
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... OMIM:614326
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Death in childhood OMIM:253300
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Cy... ORPHA:99125
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa vara, Femoral... OMIM:602111
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Dextrocardia, Camptodactyly of fing... ORPHA:1662
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic stenosis, Atrial ... OMIM:249670
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck ORPHA:2234
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Kyp... OMIM:614815
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavic... OMIM:617895
Wolf-Hirschhorn Syndrome
Abnormal form of the vertebral bodies, Atrial septal defect, Vertebral fusion, Pseudoepiphyses of... OMIM:194190
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Ventricular septal defect, Broad 2nd toe, Pectus excavatum,... OMIM:280000
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Postaxial hand polydactyly, Patent ductus arteriosus, Abnormal rib mor... ORPHA:2519
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Neural Tube Defects, Susceptibility To
Absence of the sacrum, Sacral dimple, Asymmetry of spinal facet joints, Hydrocephalus, Myelomenin... OMIM:182940
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Tr... ORPHA:957
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Ventricular septal defect, Broad hallux, Short neck, Clinodactyly of the 2nd to... OMIM:620073
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Anterior encephalocele, Foot oligodactyly, Holoprosenceph... OMIM:601357
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta OMIM:140850
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Sit... ORPHA:1908
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Kyphosis, Hydrocephalus, Va... OMIM:603387
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Aqueductal stenosis, Abno... ORPHA:3035
Achondrogenesis Type 1A
Multiple rib fractures, Short neck, Short thorax, Short foot, Narrow chest, Short palm, Umbilical... ORPHA:93299
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies, Slender long bone, Ab... ORPHA:1486
Cartilage-Hair Hypoplasia
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pectus carinatum... ORPHA:175
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Cyanosis, Scoliosis ORPHA:98913
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal... OMIM:300232
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot ORPHA:217
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos... ORPHA:90652
Cole-Carpenter Syndrome
Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Kyphosis, Abnormal ri... ORPHA:2050
Zttk Syndrome
Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Rib fusion, Hemivertebrae, Small h... OMIM:617140
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Diaphyseal sclerosis, Death in adolescence OMIM:122860
Grant Syndrome
Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Narrow... ORPHA:2097
Trisomy 13
Ventricular septal defect, Kyphosis, Postaxial hand polydactyly, Patent ductus arteriosus, Abnorm... ORPHA:3378
Vacterl Association With Hydrocephalus
Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Abnormal heart morphology, Ab... OMIM:276950
Carpenter Syndrome 2
Short neck, Preaxial polydactyly, Coxa vara, Pectus carinatum, Cutaneous finger syndactyly, Clino... OMIM:614976
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, Ab... ORPHA:2538
Tarp Syndrome
Finger syndactyly, Cyanosis, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hypopla... ORPHA:2886
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Arachnodactyly, Pectus excavatum, Pectus carinatum, Aortic root aneury... OMIM:301039
Contractural Arachnodactyly, Congenital
Hip contracture, Bowing of the long bones, Congenital kyphoscoliosis, Ventricular septal defect, ... OMIM:121050
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Baller-Gerold Syndrome
Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology, Hypoplasia of the ulna,... OMIM:218600
Down Syndrome
Short palm, Ventricular septal defect, Sandal gap, Short middle phalanx of the 5th finger, Comple... OMIM:190685
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegal... OMIM:617022
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Alobar holoprosencephaly, Patent ductus arteriosus, Vertebral clefting... OMIM:301043
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... ORPHA:2759
Hemihyperplasia, Isolated
Myelomeningocele, Scoliosis OMIM:235000
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... ORPHA:2021
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Cervical ribs, Dextrocardia ORPHA:66630
Achondrogenesis, Type Ia
Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sa... OMIM:200600
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode OMIM:610992
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Ventricular septal defect, Fractured radius, Cardiomegaly, B... OMIM:616897
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Kyphos... ORPHA:583
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect, Scoliosis ORPHA:357225
Limb Body Wall Complex
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Atrial septal defect,... ORPHA:2369
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Short-Rib Thoracic Dysplasia 12
Short neck, Bowing of the legs, Thoracic dysplasia, Holoprosencephaly, Narrow chest, Short palm, ... OMIM:269860
Pseudotrisomy 13 Syndrome
Encephalocele, 11 pairs of ribs, Ventricular septal defect, Dextrocardia, Complete atrioventricul... OMIM:264480
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy OMIM:207950
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossi... OMIM:271640
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... OMIM:250220
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Abnormal thorax morphology, Patent ductus arteriosus, Anomalous pulm... ORPHA:2184
Caudal Duplication
Spina bifida, Myelomeningocele, Abnormal sacrum morphology, Bifid sacrum, Vertebral segmentation ... ORPHA:1756
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele, Short clavicles, Abnormal cerebral vein morphology, Br... ORPHA:60015
Kagami-Ogata Syndrome
Long clavicles, Ventricular septal defect, Kyphoscoliosis, Coxa valga, Long fingers, Patent ductu... OMIM:608149
8P23.1 Duplication Syndrome
Toe syndactyly, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Vacterl/Vater Association
Occipital encephalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial han... ORPHA:887
Meckel Syndrome 14
Occipital encephalocele, Syndactyly, Cyanosis, Bowing of the long bones, Postaxial polydactyly, S... OMIM:619879
Lateral Meningocele Syndrome
Vertebral fusion, Bicuspid aortic valve, Ventricular septal defect, Short neck, Pectus excavatum,... OMIM:130720
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Aortic root aneurysm, Clinodactyly ... OMIM:616652
Noonan Syndrome 8
Ventricular septal defect, Short neck, Patent ductus arteriosus, Abnormal sternum morphology, Pul... OMIM:615355
Czeizel-Losonci Syndrome
Hitchhiker thumb, Dextrocardia, Spina bifida, Thoracolumbar scoliosis, Myelomeningocele, Hydrocep... ORPHA:2437
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Thin ribs, Bell-shaped thorax, Tibial bowing,... OMIM:166210
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Abnormal... ORPHA:1452
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Short neck, Ulnar bowing, Hypoplastic acetabulae, Thin ribs, Femoral bowing, Coron... OMIM:620076
Global Developmental Delay With Or Without Impaired Intellectual Development
Pectus excavatum, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Lateral Meningocele Syndrome
Ventricular septal defect, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Meningocele, Ab... ORPHA:2789
Greenberg Dysplasia
Beaded ribs, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow c... OMIM:215140
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pectus excavatum, Slender finger, Patent ductus... ORPHA:329224
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Camptodactyly, Spina bifida, Mitral valve prolapse OMIM:211960
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, Anterior wedging of L... OMIM:253200
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Ventricular septal defect, Rocker bottom foot, Short neck, Pectus excavatum, Hydroceph... OMIM:612582
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Hurler Syndrome
Abnormal clavicle morphology, Death in infancy, Abnormal heart valve morphology, Camptodactyly of... ORPHA:93473
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Hydrocephalus, Patent ductus arteriosus, Double outlet right ventricle OMIM:614886
Buerger Disease
Vasculitis, Acrocyanosis ORPHA:36258
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widen... ORPHA:93352
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect, Scoliosis ORPHA:398156
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Cone-shaped epiphyses of phalanges 2 to 5, Pe... OMIM:225500
King-Denborough Syndrome
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Thoracic kyphosis, S... OMIM:619542
Congenital Heart Block
Cyanosis, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Patent fora... ORPHA:60041
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... OMIM:619636
Triploidy
Finger syndactyly, Short neck, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Ho... ORPHA:3376
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Lateral clavicle hook, Preaxial pol... OMIM:615503
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh... ORPHA:958
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Cutis marmorata, Ventricular septal defect, Short neck, Hydrocephalus, Patent ductus arteriosus, ... OMIM:612938
Campomelia, Cumming Type
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Prematurely aged appea... ORPHA:1318
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing... OMIM:274000
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Tetrasomy 5P
Cyanosis, Overlapping toe, Short hallux, Short neck, Pectus excavatum, Long fingers, Hydrocephalu... ORPHA:3309
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Barrel-shaped chest, Vertebral fusion, Hip contracture, Ventricular septal defect, Tarsal synosto... OMIM:178110
Isolated Right Ventricular Hypoplasia
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Clubbing, Hypoxemia, Atrial septal de... ORPHA:439
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Short nec... ORPHA:99776
Axial Mesodermal Dysplasia Spectrum
Short neck, Missing ribs, Hydrocephalus, Abnormal rib morphology, Abnormal form of the vertebral ... ORPHA:1834
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Toe syndactyly, Ventricular septal defect, Toe clinodactyly ORPHA:261120
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... OMIM:615996
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... ORPHA:93323
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect, Postaxial hand poly... ORPHA:83473
Roifman Syndrome
Noncompaction cardiomyopathy, Biconvex vertebral bodies, Short metacarpal, Ventricular septal def... OMIM:616651
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Clinodactyly, Patent ductus arteriosus, Double outlet right ventricle, Supravalva... OMIM:618164
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Asymmetric septal hypertrophy, Bea... OMIM:252930
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Ventricular septal defect, Hydrocephalus, Meningocele, A... OMIM:611134
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Myocarditis, Metaphyseal ch... ORPHA:93317
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Pectus carinatum, Narrow greater sciatic notch, Anterior beaking of l... OMIM:253220
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Mmep Syndrome
Split foot, Ventricular septal defect, Triphalangeal thumb ORPHA:3434
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale OMIM:263000
Microcephaly-Cardiomyopathy Syndrome
Sandal gap, Dilated cardiomyopathy, Ventricular septal defect, Clinodactyly of the 5th finger ORPHA:2515
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... OMIM:612921
Trisomy 1Q
Toe syndactyly, Ventricular septal defect, Arachnodactyly, Camptodactyly of finger, Preaxial hand... ORPHA:261344
Pallister-Hall Syndrome
Hemivertebrae, Holoprosencephaly, Atrial septal defect, Atrioventricular canal defect, Mesoaxial ... ORPHA:672
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Beaded ribs, Platyspondyly, ... OMIM:616229
Lambert Syndrome
Branchial anomaly, Ventricular septal defect, Jaundice ORPHA:1296
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Thin ribs, Hypoplastic heart, Short finger OMIM:312150
Nail-Patella Syndrome
Back pain, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Spina bifida, Pectus excavatum, Patell... OMIM:161200
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Ascending aorta hypoplasia... OMIM:619503
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardiomyopa... ORPHA:2326
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Death in infancy, Spina bifida, Situs inversus total... ORPHA:991
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short 5th metacarpal, Radial bowing, Broad hallux, Thoracolumbar scoliosis, Hyper... OMIM:618019
3P25.3 Microdeletion Syndrome
Sacral dimple, Ventricular septal defect, Broad hallux, Proximal placement of thumb, Tapered fing... ORPHA:435638
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Short thumb, Hypoplasia of the radius,... ORPHA:3258
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Abnormal form of the ver... ORPHA:1458
Larsen Syndrome
Vertebral fusion, Short metacarpal, Ventricular septal defect, Cervical kyphosis, Spatulate thumb... OMIM:150250
Diamond-Blackfan Anemia 7
Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ductus arteriosus, ... OMIM:612562
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th finger, Slender fi... OMIM:620393
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ... ORPHA:85167
Dysosteosclerosis
Sclerotic scapulae, Increased intervertebral space, Abnormal metaphyseal trabeculation, Flared me... OMIM:224300
Maternal Phenylketonuria
Ventricular septal defect, Bifid distal phalanx of the thumb, Clinodactyly, Abnormal heart morpho... ORPHA:2209
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Sacral dimple, Ventricular septal defect, Down-sloping shoulders, Overlapping toe, Short neck, Ta... OMIM:617452
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Scoliosis, Pulmonic stenosis, Facial telangiectasia, Contracture of the proxima... OMIM:620141
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Flat acetabular roof, Coarct... OMIM:617159
Wildervanck Syndrome
Fused cervical vertebrae, Meningocele, Short neck ORPHA:3456
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P... OMIM:114290
Dextrocardia
Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal rib mor... ORPHA:1666
Restrictive Dermopathy 2
Overtubulated long bones, Cyanosis, Short clavicles OMIM:619793
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Ventricular septal defect, Patent ductus arteriosus, Spinal canal stenosis,... OMIM:277600
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long bones, Thin ribs, Tib... OMIM:613848
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Focal Dermal Hypoplasia
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Telangiectasia of the skin, Spina b... ORPHA:2092
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Thin ribs, Hypoplastic heart, Short finger OMIM:253290
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Cutis marmorata, Vertebral clefting, Hemivertebrae, 2-3 toe syndactyly, Coxa vara, Pe... OMIM:614701
Craniofaciofrontodigital Syndrome
Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve... ORPHA:363705
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Umbilical hernia... OMIM:617952
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Pectus excavatum, Patent ductus arteriosus, Abnormal heart morphology, Hyp... ORPHA:2847
Hypophosphatasia
Bowing of the long bones, Abnormal rib morphology, Narrow chest, Abnormal metaphysis morphology ORPHA:436
Spondylo-Ocular Syndrome
Abnormal intervertebral disk morphology, Ventricular septal defect, Short neck, Platyspondyly, Th... ORPHA:85194
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Dislocated radial head, Scapular winging, Arachnodactyl... OMIM:305620
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Ventricular septal defect, Cutis marmorata, Hydrocephalus, Polydactyly OMIM:602501
Primary Pulmonary Hypoplasia
Cyanosis, Dextrocardia, Secundum atrial septal defect, Patellar hypoplasia, Hypoxemia, Abnormal p... ORPHA:2257
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pulmonic stenosis, Chylopericardium ORPHA:2414
Waardenburg Syndrome Type 1
Spina bifida, Meningocele, Premature graying of hair, Scoliosis, Sprengel anomaly ORPHA:894
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Narrow c... OMIM:304120
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Cupped ribs, Short ... ORPHA:1145
Shprintzen-Goldberg Craniosynostosis Syndrome
Arachnodactyly, Lateral clavicle hook, Pectus excavatum, Hydrocephalus, Metaphyseal widening, Met... OMIM:182212
Cardiac Valvular Dysplasia 1
Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmon... OMIM:212093
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Kyphosis, Tibial bowing, Thin ribs, Slender long bone, Scoliosis, Biconcave ... OMIM:259420
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Ventricular septal defect, Sandal gap, Tapered finger, Pectus excavatum, Kyphos... OMIM:617061
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Ventricular septal defect, Kyphoscoliosis, Pectus excavatum, Parti... OMIM:618348
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:500159
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Abnormal rib morphology, Pectus carinatum, Abnormal hip bone morphology, Clinodact... ORPHA:3068
Congenital Tricuspid Valve Dysplasia
Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricusp... ORPHA:555874
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Coarctation of aorta, Bell-shaped thorax, Atrial septal defect, Horizon... OMIM:614857
Asbestos Intoxication
Cyanosis, Cor pulmonale, Myocardial fibrosis, Hypoxemia, Clubbing of fingers, Oxygen desaturation... ORPHA:2302
Grange Syndrome
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm ORPHA:79094
Noonan Syndrome 4
Pectus excavatum of inferior sternum, Ventricular septal defect, Short neck, Pectus excavatum, Ab... OMIM:610733
Wolcott-Rallison Syndrome
Atrial septal defect, Metaphyseal dysplasia, Double outlet right ventricle, Jaundice ORPHA:1667
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Abnormal thorax morphology, Cyanosis ORPHA:70587
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Split hand, Short long bo... OMIM:252600
Congenital Fibrinogen Deficiency
Cyanosis, Clubbing of fingers, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneou... ORPHA:335
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida, Postaxial hand polydactyly ORPHA:945
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Short neck, Pectus e... OMIM:605275
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Short neck, Lateral clavicle hook, Complete atrioventricular canal defect,... OMIM:617925
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... OMIM:147750
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Abnormal rib morphology, Brachydactyly ORPHA:2145
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Patent ductus arteriosus, P... ORPHA:96167
Viss Syndrome
Tortuous cerebral arteries, Prominent superficial blood vessels, Epidural hemorrhage, Pectus cari... OMIM:619472
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Transient ischemic attack, Kyphoscoliosis, Absent thumb, Pa... ORPHA:500150
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Short neck, Postaxial polydactyly, Hydrocephalus, Anencephaly, Preaxial polyda... OMIM:616546
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Breath-Holding Spells
Cyanosis OMIM:607578
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Cutis marmorata, Arachnodactyly, Sandal gap, Pectus excavatum, Kyphosi... OMIM:617602
Renpenning Syndrome
Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodactyly of the 5th fin... ORPHA:3242
Pelger-Huet Anomaly
Ventricular septal defect, Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, U... OMIM:169400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polyd... OMIM:263520
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, Short phalanx of ... OMIM:143095
Mosaic Trisomy 16
Syndactyly, Ventricular septal defect, Large placenta, Abnormal thorax morphology, Short thumb, P... ORPHA:1708
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Cyanosis, Congenital hip dislocation, Kyphoscoliosis, Spinal rigi... ORPHA:590
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Encephalocele, Postaxial polydactyly, Patent ductus arteriosus, Squared iliac bones, Preaxial pol... OMIM:616300
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Cyanosis, Congenital hip dislocation, Kyphoscoliosis, Spinal rigi... ORPHA:98914
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Abnormal heart morphology, ... OMIM:618494
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... ORPHA:3427
Opsismodysplasia
Short metacarpal, Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Squared i... OMIM:258480
Waardenburg Syndrome Type 3
Camptodactyly of finger, Abnormal finger morphology, Cutaneous finger syndactyly, Atrial septal d... ORPHA:896
Fanconi Anemia, Complementation Group B
Death in infancy, Ventricular septal defect, Short neck, Absent thumb, Hydrocephalus, Patent duct... OMIM:300514
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis, Small hand, Short foot, Brachyda... OMIM:617450
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... OMIM:613091
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Short neck, Pectus excavatum, Patent ductus arteriosus, Scoliosis ORPHA:52055
Cole-Carpenter Syndrome 2
Pectus excavatum, Kyphosis, Hydrocephalus, Thin ribs, Platyspondyly, Narrow iliac wing OMIM:616294
Noonan Syndrome 10
Ventricular septal defect, Short neck, Pectus excavatum, Patent ductus arteriosus, Pectus carinat... OMIM:616564
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Charge Syndrome
Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, Holoprosencephaly, Atrial septal ... OMIM:214800
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Short neck ORPHA:284417
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Fryns Microphthalmia Syndrome
Neural tube defect, Abnormality of the vertebral column OMIM:600776
Osteogenesis Imperfecta
Cervical kyphosis, Abnormal tibia morphology, Abnormal femur morphology, Abnormal form of the ver... ORPHA:666
Kury-Isidor Syndrome
Finger syndactyly, Sacral dimple, Ventricular septal defect, Rocker bottom foot, Proximal placeme... OMIM:619762
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Small cervical vertebral bodies, Long clavicles, Abnormal acetabulum mor... ORPHA:397715
Li-Campeau Syndrome
Ventricular septal defect, Patent ductus arteriosus, Patellar hypoplasia, Atrial septal defect, P... OMIM:619189
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Sandal gap, Absent ... OMIM:607323
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Hypoplasia of first ribs, Foot oligodactyly... OMIM:154400
Waardenburg Syndrome, Type 1
Spina bifida, Myelomeningocele, Premature graying of hair, Supernumerary ribs, Supernumerary vert... OMIM:193500
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Kyphosis, Dysplastic tricusp... ORPHA:1724
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlarge... OMIM:260400
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect OMIM:615524
Ritscher-Schinzel Syndrome 2
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C... OMIM:300963
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Sandal gap, Pectus excavatum, 3-4 finger cutaneous syndactyly, Vertebr... OMIM:612530
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Hemivertebrae, Abnormal aortic arch morphology, Tibial bowing, Narrow chest, Hypoplas... ORPHA:96334
Fucosidosis
Cardiomegaly, Kyphosis, Anterior beaking of lumbar vertebrae, Acrocyanosis, Vascular skin abnorma... ORPHA:349
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Short femur, Metaphyseal spurs, Patent ductus arteriosus, Undulate r... OMIM:618188
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Ventricular septal defect, Patent ductus arteriosus, Shor... OMIM:608328
Digeorge Syndrome
Pilonidal sinus, Ventricular septal defect, Patent ductus arteriosus, Scoliosis, Interrupted aort... OMIM:188400
Li-Ghorbani-Weisz-Hubshman Syndrome
Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Clinodactyly of the 5th fin... OMIM:618974
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib... ORPHA:73230
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Short thumb, Patent ductus arteriosus, Mitral... OMIM:612561
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Double outlet right ventric... ORPHA:163956
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Ventricular septal defect, ... OMIM:211750
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly ORPHA:391428
Chromosome 5Q12 Deletion Syndrome
Long toe, Sacral dimple, Ventricular septal defect, Short neck, Long fingers, Patent ductus arter... OMIM:615668
Anophthalmia Plus Syndrome
Deviation of finger, Vertebral segmentation defect, Spina bifida ORPHA:1104
Holzgreve Syndrome
Abnormally ossified vertebrae, Abnormal morphology of ulna, Abnormal rib morphology, Hand polydac... ORPHA:2167
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Cyanosis, Clubbing, Neonatal death, Misalignment of the pulmonary veins OMIM:265120
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Sillence Syndrome
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... ORPHA:3168
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Ventricular septal defect, Sandal gap, Pectus excavatum, Sma... OMIM:270450
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Sacral dimple, Broad hallux phalanx, Preaxial hand polydactyly,... ORPHA:2211
Intellectual Developmental Disorder, Autosomal Dominant 48
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Scoliosis, Umbilical ... OMIM:617751
Stuve-Wiedemann Syndrome 1
Short neck, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, Death in infancy... OMIM:601559
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Steinfeld Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... OMIM:184705
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Thin ribs, Petechiae OMIM:617397
Dysosteosclerosis
Ventricular septal defect, Hypoplastic vertebral bodies, Irregular vertebral endplates, Platyspon... ORPHA:1782
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy ORPHA:444013
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, ... OMIM:300166
Xk Aprosencephaly Syndrome
Atrial septal defect, Abnormal morphology of the radius, Ventricular septal defect ORPHA:3469
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Short palm, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pe... OMIM:235510
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Sacral dimple, Miscarriage, Ventricular septal... ORPHA:2438
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Hypoplasia of the ulna, Lateral clavicle hook, Jaundice, Early ossification of ... OMIM:208500
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Missing ribs, Aplasia/Hypoplasia of the distal pha... ORPHA:1647
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Lethal Congenital Contracture Syndrome 5
Death in infancy, Subdural hemorrhage, Thin ribs OMIM:615368
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Clinodactyly of the 5th finger, Ventricular septal defect, Rocker bottom foot OMIM:618506
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Jacobsen Syndrome
Death in infancy, Broad hallux phalanx, Finger syndactyly, Ventricular septal defect, Toe syndact... ORPHA:2308
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Scapular winging, Ventricular septal defect, Arachnodactyly,... OMIM:615582
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... OMIM:117650
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Coxa valga, Vertebral arch anomaly, Abnormal diaphysis morpholog... ORPHA:85184
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Missing ribs, Abnormal... ORPHA:3186
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Missing ribs, Hydrocephalus, Abnormal rib morphology, Aplasia/Hypo... ORPHA:3301
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Sacral dimple, Toe syndactyly, Ventricular septal defect... ORPHA:505237
Holoprosencephaly 14
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... OMIM:619895
Monosomy 9Q22.3
Short neck, Pectus excavatum, Kyphosis, Hydrocephalus, Abnormal rib morphology, Cardiac fibroma, ... ORPHA:77301
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Thin ribs, ... OMIM:610915
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Death in infancy, Crumpled long bones, Protrusio acetabuli, Femoral retro... OMIM:610682
Aspergillosis
Abnormal rib morphology, Abnormal long bone morphology, Intracranial hemorrhage, Abnormality of t... ORPHA:1163
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short neck, Bowing of the legs, Pectus carinatum, Abnormal calcification of the carpal bones, Tri... OMIM:271665
Esophageal Atresia
Cyanosis, Ventricular septal defect, Coarctation of aorta, Scoliosis, Clinodactyly, Tetralogy of ... ORPHA:1199
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:2769
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxial polydactyly, Paten... OMIM:618142
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ... ORPHA:93324
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoi... OMIM:250250
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... OMIM:609945
Doors Syndrome
11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal toe morphology, He... ORPHA:79500
Gracile Bone Dysplasia
Death in infancy, Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Brachydactyly OMIM:602361
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect OMIM:235750
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... OMIM:616145
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Arachnodactyly, Cardiomegaly, Pectus excavatum, Thin ribs, Thin metatarsal cortices, Slender long... ORPHA:2463
Congenital Tracheomalacia
Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pu... ORPHA:95430
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Broad hallux, Ventricular septal defect, Sandal gap, Secundum atrial septal def... OMIM:600987
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect, Lumbar kyphosis OMIM:620184
Aase-Smith Syndrome I
Death in infancy, Hydrocephalus, Ventricular septal defect, Slender finger OMIM:147800
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Narrow pelvis bon... ORPHA:96061
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Ventricular septal defect, Aplasia/Hypopl... ORPHA:94066
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Central cyanosis, Ascending tubular aorta aneurysm, Pulmonic stenosis, Sub... OMIM:620067
Hereditary Bullous Dystrophy, Macular Type
Tapered finger, Acrocyanosis, Short finger, Abnormal heart morphology ORPHA:1867
Weill-Marchesani Syndrome
Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly ORPHA:3449
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Small hand, Camptodactyly, Clino... OMIM:619980
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Pulmonary Arteriovenous Malformation
Cyanosis, Transient ischemic attack, Clubbing, Telangiectasia, Hypoxemia, Pulmonary arteriovenous... ORPHA:2038
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Abn... ORPHA:3380
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... OMIM:263630
Constricting Bands, Congenital
Encephalocele, Syndactyly, Abnormal rib cage morphology, Hand polydactyly, Scoliosis, Ectopia cordis OMIM:217100
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Ventricular septal defect, Arachnodactyly, Pectus excavatum, Hydrocephalus,... OMIM:300373
Schwartz-Jampel Syndrome
Short neck, Coxa vara, Pectus carinatum, Death in infancy, Abnormally ossified vertebrae, Hyperlo... ORPHA:800
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arterie... OMIM:620025
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Prominent fingertip pads, Ventricular septal defect, Bicuspid ao... OMIM:610443
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... OMIM:600002
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Ventricular septal defect, Short neck, Abnormal heart morphology, Camptodactyly, Umbi... ORPHA:369891
Diamond-Blackfan Anemia 1
11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Short neck, Absent thumb, Short ... OMIM:105650
Occipital Horn Syndrome
Short humerus, Pelvic bone exostoses, Broad clavicles, Pectus excavatum, Kyphosis, Capitate-hamat... OMIM:304150
Congenital Rubella Syndrome
Ventricular septal defect, Jaundice, Patent ductus arteriosus, Atrial septal defect, Abnormal met... ORPHA:290
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Short foot ORPHA:228399
Tyshchenko Syndrome
Ventricular septal defect, Pectus excavatum, Narrow chest, Pulmonic stenosis, Atrial septal defect OMIM:615102
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Split... OMIM:200980
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bone, Short palm OMIM:244460
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Kyphosis, Patent ductus arteriosus, Ventricular septal defect OMIM:619909
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... OMIM:276820
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Ventricular septal defect OMIM:613730
15Q14 Microdeletion Syndrome
Atrial septal defect, Kyphosis, Ventricular septal defect, Scoliosis ORPHA:261190
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Thoracolumbar scoliosis, Short neck, Pectus excavatum, Patent ductus a... OMIM:300472
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Tapered finger, Pectus excavatum, Kyp... ORPHA:2215
Craniometadiaphyseal Dysplasia
Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Scoliosis, Broad ribs, Genu varum OMIM:269300
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Proximal placement of thumb, Clinodactyly of the 5th toe, Patent ductu... OMIM:620113
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short neck, Delayed epiphyseal ossification, Preaxial polydactyly, Femoral bowing, Death in child... OMIM:210710
Marfan Syndrome
Mitral valve calcification, Arachnodactyly, Protrusio acetabuli, Pectus excavatum, Kyphosis, Desc... ORPHA:558
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Mosaic Trisomy 1
Long toe, Broad toe, Thoracic scoliosis, Toe syndactyly, Ventricular septal defect, Arachnodactyl... ORPHA:1692
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Ventricular septal defect, Kyphoscoliosis, Kyphosis, Metaphyseal widening, T... OMIM:259770
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th fi... ORPHA:373
De Barsy Syndrome
Congenital hip dislocation, Ventricular septal defect, Progeroid facial appearance, Kyphoscoliosi... ORPHA:2962
19P13.3 Microduplication Syndrome
Ventricular septal defect, Kyphoscoliosis, Long fingers, Hip dislocation, Hip dysplasia, Clinodac... ORPHA:447980
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Tapered finger, Long fingers, Joint contracture of the 5th finger, Clinodactyly of the 5th finger... OMIM:614407
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Hyperlordosis, Kyphosis, Patent ductus arteri... ORPHA:354
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
2Q31.1 Microdeletion Syndrome
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... ORPHA:251014
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Metaphyse... OMIM:600373
Alagille Syndrome 1
Hypoplasia of the ulna, Peripheral pulmonary artery stenosis, Ventricular septal defect, Abnormal... OMIM:118450
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Tetralogy of Fallo... ORPHA:3306
Camptodactyly Syndrome, Guadalajara Type 3
Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Thickened cort... ORPHA:488434
Pyknoachondrogenesis
Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Poorly ossif... ORPHA:3003
Noonan Syndrome 9
Coarctation of aorta, Ventricular septal defect, Pulmonic stenosis, Short neck OMIM:616559
Tatton-Brown-Rahman Syndrome
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Scoliosis OMIM:615879
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Short neck, Short thumb, Patent ductus arteri... OMIM:244300
Alg3-Cdg
Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Coarctation of the descending aortic... ORPHA:79321
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Preaxial hand pol... ORPHA:261318
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the f... ORPHA:2256
Filippi Syndrome
Finger clinodactyly, Ventricular septal defect, Cutaneous syndactyly, 2-4 toe syndactyly OMIM:272440
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Kyphosis, 2-3 toe syndactyly, Pectus carinatum, Scoliosis, Atrial sept... OMIM:616449
Chromosome 17P13.1 Deletion Syndrome
Hallux valgus, Sacral dimple, Arachnodactyly, Broad hallux, Spina bifida, Short neck, Proximal pl... OMIM:613776
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Abnormal heart mo... ORPHA:404440
Giant Cell Arteritis
Pericarditis, Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary vent... ORPHA:397
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Left atrial enlargement, Progeroid facial appearance, Thin ribs, Rib... OMIM:614008
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Cutaneous syndactyly, Tetralog... OMIM:601005
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... OMIM:602535
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Ventricular septal defect, Overlapping toe, Broad distal phalanx of the toes, ... ORPHA:464738
Coffin-Siris Syndrome 7
Ventricular septal defect, Bicuspid aortic valve, Pectus excavatum, Clinodactyly of the 5th finge... OMIM:618027
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Meningocele, Intr... OMIM:614424
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap, Short neck, Kyphosis,... ORPHA:254346
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Lambotte Syndrome
Preaxial foot polydactyly, Ventricular septal defect, Semilobar holoprosencephaly OMIM:245552
Meier-Gorlin Syndrome 1
Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Pectus carinatum, Cutaneous finger synd... OMIM:224690
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Patent ductus arteriosus, Aplasia of the epigl... OMIM:617088
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno... OMIM:269500
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Scoliosis OMIM:617635
Myhre Syndrome
Short neck, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral fusion, Pericardi... OMIM:139210
Radio-Renal Syndrome
Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormal form of the vertebral bod... ORPHA:3015
Myhre Syndrome
Brachydactyly, Abnormal rib morphology, Platyspondyly, Abnormal cardiac septum morphology, Abnorm... ORPHA:2588
Cohen Syndrome
Finger syndactyly, Ventricular septal defect, Arachnodactyly, Sandal gap, Tapered finger, Pectus ... ORPHA:193
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Ca... OMIM:600920
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodies, Holoprosencephaly... ORPHA:818
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Ventricular septal defect, Short neck, Thyroid lymphangiectasia, Pancreatic lym... OMIM:235255
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Beaded ribs, Bowing of the legs, Enlargem... ORPHA:89936
Warsaw Breakage Syndrome
Ventricular septal defect, Cutis marmorata, 2-3 toe syndactyly, Clinodactyly of the 5th finger, T... OMIM:613398
Trigonocephaly With Short Stature And Developmental Delay
Clinodactyly of the 5th finger, Ventricular septal defect OMIM:314320
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short neck, Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasi... OMIM:609053
Chromosome 9P Deletion Syndrome
Long toe, Ventricular septal defect, Sandal gap, Hallux varus, Short neck, Tapered finger, Patent... OMIM:158170
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, 1... OMIM:617201
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Anomalous pulmonary venous return, ... ORPHA:99104
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Cerv... ORPHA:573278
Hallermann-Streiff Syndrome
Spina bifida, Hyperlordosis, Pectus excavatum, Metaphyseal widening, Thin ribs, Telangiectasia, A... OMIM:234100
Acute Interstitial Pneumonia
Pericardial effusion, Cyanosis, Hypoxemia ORPHA:79126
Lenz-Majewski Hyperostotic Dwarfism
Prominent scalp veins, Hyperextensibility of the finger joints, Syndactyly, Cutis marmorata, Broa... OMIM:151050
Dravet Syndrome
Cyanotic episode, Tibial torsion ORPHA:33069
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Short neck ORPHA:2328
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Death in infancy, Thin ribs OMIM:300219
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect, Thoracolumbar kyphoscoliosis, Proximal placement of thumb, Short neck,... OMIM:212066
Transaldolase Deficiency
Ventricular septal defect, Short neck, Patent ductus arteriosus, Telangiectasia, Coarctation of a... OMIM:606003
Aicardi-Goutieres Syndrome 1
Erythema, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Myelomeningocele, Meningocele, Hydroc... OMIM:600145
Chromosome 18Q Deletion Syndrome
Toe syndactyly, Absence of the pulmonary valve, Ventricular septal defect, Proximal placement of ... OMIM:601808
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Interphalangeal thumb joint ... OMIM:613870
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Fifth finger distal phalanx clinodactyly ORPHA:3369
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow pelvis b... ORPHA:83
Premature Aging Syndrome, Penttinen Type
Prominent superficial veins, Brachydactyly, Prematurely aged appearance, Thin ribs, Tibial bowing... OMIM:601812
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology, Scoliosis ORPHA:1300
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Foam cells, Cyanosis, Clubbing ORPHA:747
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pericardial effusion, Hypoxemia, Abnormal pulmonary vein morphology, Clubbing of fingers ORPHA:199241
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Apert Syndrome
Syndactyly, Finger syndactyly, Overriding aorta, Ventricular septal defect, Preaxial hand polydac... OMIM:101200
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... OMIM:618652
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Ovoid thor... OMIM:252940
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Arachnodactyly, Camptodactyly of finger, Pectus excavatu... ORPHA:2461
Trisomy 8Q
Camptodactyly of finger, Short neck, Myelomeningocele, Long thorax, Brachydactyly ORPHA:1752
Xylt1-Cdg
Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, Broad ribs, ... ORPHA:370930
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Patent ductus ... OMIM:614576
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... ORPHA:249
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Arterial calcification, Cyanosis, Medial calcification of large arteries... ORPHA:51608
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Phalangeal dislocation, Poor wound healing, Hip dislocation, Mitral ... ORPHA:287
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Ventricular septal defect, Increased intervertebral space, Broad ischia, D... OMIM:619727
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Mesoaxial hand polydactyly... ORPHA:46627
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,... OMIM:620369
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Transient ischemic attack, Cerebral arteriovenous malforma... OMIM:610655
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... OMIM:603194
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Scoliosis OMIM:616038
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Rere-Related Neurodevelopmental Syndrome
Hip dysplasia, Ventricular septal defect, Scoliosis, Abnormal heart morphology ORPHA:494344
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Ventricular septal defect, Scoliosis, Camptodactyly, Atrial septal defect, Clinodactyly, Spina bi... OMIM:617360
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Calcaneovalgus deformity, Pectus carinatum, Ectodermal dysplasia, Prominen... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Calcaneovalgus deformity, Pectus carinatum, Ectodermal dysplasia, Prominen... ORPHA:363958
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Meningocele, Tarsal synostosis ORPHA:3265
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Clinodactyly of the 5th finger, Ventricular septal defect, Dextrocardia OMIM:618067
Complete Atrioventricular Septal Defect
Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, Disp... ORPHA:1329
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Stroke, Ventricular septal defect ORPHA:49827
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Slender long bone, Brachydactyly, Thin ribs OMIM:618265
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Coarctation of aorta OMIM:620210
3Mc Syndrome 1
Conjunctival telangiectasia, Sacral dimple, Ventricular septal defect, Single interphalangeal cre... OMIM:257920
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Kyphosis, Pulmonic stenosis, Camptodactyly, Clinodactyly of the 5th fi... OMIM:619123
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D... OMIM:300998
Cerebellofaciodental Syndrome
Ventricular septal defect, Short neck, Tapered finger, Shortening of all distal phalanges of the ... OMIM:616202
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Pectus excavatum, Large placenta, Prominent sternum, Coat hanger sign ... ORPHA:254528
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Abnormal pericardium morphology, Transient ischemic attack, Myocarditis, Vasculi... ORPHA:183
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect OMIM:249270
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Pectus excavatum, Hydrocephalus, Tibial pseudarthrosis, Genu v... OMIM:162200
Ulnar-Mammary Syndrome
Abnormal clavicle morphology, Abnormal morphology of the radius, Ventricular septal defect, Campt... ORPHA:3138
Hajdu-Cheney Syndrome
Ventricular septal defect, Kyphoscoliosis, Short neck, Hydrocephalus, Tall lumbar vertebral bodie... OMIM:102500
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy, Meningocele ORPHA:2481
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Intracranial hemorrhage, Generalized abnormality of skin, Ab... ORPHA:740
Craniofacioskeletal Syndrome
Barrel-shaped chest, Ventricular septal defect, Patent ductus arteriosus, Small hand, Shield ches... OMIM:300712
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Patent foramen ovale, Scoliosis OMIM:614961
Iniencephaly
Encephalocele, Rocker bottom foot, Spina bifida, Hyperlordosis, Hydrocephalus, Myelomeningocele, ... ORPHA:63259
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Sotos Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Long metacarpals, Patent ductus ar... OMIM:117550
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Hydrocephalus, Ventricular septal defect OMIM:218350
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen conten... OMIM:261740
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Femoral bowing, Narrow chest, Abnormal vertebral morphology, Short metacarpal, Abnormal metacarpa... ORPHA:95699
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Oculodentodigital Dysplasia
Abnormal clavicle morphology, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Campt... ORPHA:2710
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Hemivertebrae, P... OMIM:301040
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Sacral dimple, Ventricular septal defect, Hypoplastic right heart, Short neck, Kyphos... OMIM:616894
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Teebi-Shaltout Syndrome
Syndactyly, Ventricular septal defect, Rocker bottom foot, Pectus excavatum, Metatarsus adductus,... OMIM:272950
Chromosome 15Q25 Deletion Syndrome
Ventricular septal defect, Dextrocardia, Short neck, Pectus excavatum, Long fingers, Coronary art... OMIM:614294
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Left atrial enlargement, Clubbing of toes, Right ventricular dilatation, Clubbing of fi... ORPHA:99106
Noonan Syndrome 3
Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus, Pectus carinatum, Shield c... OMIM:609942
Hajdu-Cheney Syndrome
Coarse metaphyseal trabecularization, Brachydactyly, Ventricular septal defect, Bowing of the lon... ORPHA:955
Kagami-Ogata Syndrome
Kyphoscoliosis, Short neck, Coxa valga, Large placenta, Bell-shaped thorax, Coat hanger sign of r... ORPHA:254519
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Isolated Posterior Meningocele
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occ... ORPHA:268810
Jacobsen Syndrome
Ventricular septal defect, Missing ribs, Pectus excavatum, Short neck, Hydrocephalus, Holoprosenc... OMIM:147791
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Death in infancy, Ventricular septal defect, Jaundice, Hip dysplasia, Right ventricular hypertrophy OMIM:613404
Poems Syndrome
Pericardial effusion, Metaphyseal sclerosis, Clubbing of fingers, Sclerotic vertebral endplates, ... ORPHA:2905
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Abnormal pulmonary valve morphology, Hydrocephalus, Pulmonary artery st... ORPHA:667
Delpire-Mcneill Syndrome
Ventricular septal defect, Hip dislocation OMIM:619083
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Ventricular septal defect, Atrial septal defect, Clinodactyly, Patent foramen oval... OMIM:614261
Ogden Syndrome
Pulmonary artery stenosis, Broad hallux, Ventricular septal defect, Scoliosis ORPHA:276432
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Cardiomegaly, Abnormal myocardium morphology, Avascular necrosis of... ORPHA:581
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Bifid sternum, Short metacarpal, Cutis marmorata, Tapere... OMIM:303600
Autosomal Dominant Centronuclear Myopathy
Miscarriage, Thin ribs ORPHA:169189
Orofaciodigital Syndrome V
Ventricular septal defect, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi... OMIM:174300
Mgat2-Cdg
Ventricular septal defect, Pectus excavatum, Kyphosis, Patent ductus arteriosus, Abnormal heart m... ORPHA:79329
Suleiman-El-Hattab Syndrome
Ventricular septal defect, Polydactyly, Atrial septal defect, Clinodactyly, Patent foramen ovale,... OMIM:618950
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Ventricular septal defect, Ovoid vertebral bodies, Metatarsus adductu... OMIM:244450
Acquired Purpura Fulminans
Intracranial hemorrhage, Acrocyanosis, Macular purpura ORPHA:49566
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs ORPHA:456328
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Ventricular septal defect, Jaundice, Hip dysplasia, Atrial septal defect, Paten... OMIM:208085
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Broad ribs, Flaring of rib cage, Fused cervical vertebrae OMIM:612852
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Fanconi Anemia
Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Atrial septal def... ORPHA:84
X Small Rings
Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Short neck, Tapered finger, 2-3... ORPHA:96201
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Ventricular septal defect, Supernumerary ribs OMIM:613309
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Jaundice, Vasculitis, Ascending tubul... ORPHA:2331
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Short ... OMIM:613458
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect, Short sternum OMIM:222448
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Cyanosis ORPHA:159
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Toe syndactyly, Ventricular septal defect, Cutis marmorata, Bicuspid aortic valve, Short neck, Pr... OMIM:610759
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Ventricular septal defect, Short neck, Pectus excavatum, 2-3 toe syn... ORPHA:488632
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Arachnodactyly, Ventricular septal defect, Pectus excava... OMIM:309520
Sirenomelia
Absence of the sacrum, Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia ORPHA:3169
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs OMIM:614833
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Hydrocephalus, Abnormal cardiac ventricle morphology, Patent ductus arteri... ORPHA:2306
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ascending tubular ao... ORPHA:453499
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morp... ORPHA:457279
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Short neck, Pectus excavatum, Patent ductus arteriosus, Hypoplastic ao... OMIM:617506
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ventricular septal defect, Patent ductus arteriosus, Short 5th finger, Clinodactyly of the 5th fi... OMIM:220500
Woods Syndrome
3-4 finger cutaneous syndactyly, Ventricular septal defect OMIM:615236
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Pectus excavatum, Holopros... ORPHA:261236
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida, Tapered finger, Patent ductus arteriosus, Coarctation of aorta, Dermatographic urti... OMIM:619480
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Short neck, Aplasia of the ulna, Abnormal tibia morpholo... ORPHA:2879
Charge Syndrome
Aortic arch aneurysm, Aqueductal stenosis, Abnormal tibia morphology, Patent ductus arteriosus, A... ORPHA:138
Vacterl With Hydrocephalus
Absence of the sacrum, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius... ORPHA:3412
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Ab... ORPHA:3472
Noonan Syndrome 1
Pectus excavatum of inferior sternum, Ventricular septal defect, Kyphoscoliosis, Short neck, Clin... OMIM:163950
Rubinstein-Taybi Syndrome 1
Aortic isthmus hypoplasia, Hypoplastic iliac wing, Prominent fingertip pads, Atrial septal defect... OMIM:180849
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Hydrocephalus, Coarctation of aorta, Bifid thoracic vertebrae, Foot po... ORPHA:268249
Severe Congenital Nemaline Myopathy
Abnormal thorax morphology, Adducted thumb, Thin ribs ORPHA:171430
Histiocytoid Cardiomyopathy
Cyanosis, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Stroke-like episode ORPHA:137675
Congenital Tracheal Stenosis
Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypopl... ORPHA:141127
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:2143
Van Esch-O'Driscoll Syndrome
Sacral dimple, Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Short ... OMIM:301030
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Ventriculomegaly With Cystic Kidney Disease
Vascular dilatation, Hydrocephalus, Ventricular septal defect, Postaxial polydactyly OMIM:219730
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Poor wound healing, Kyphoscolios... OMIM:225400
Eisenmenger Syndrome
Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Clubbing, Aortopulmonary window, A... ORPHA:97214
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:619769
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... OMIM:619343
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... OMIM:269150
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... ORPHA:40366
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... ORPHA:2162
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Patent ductus arteriosus, Split hand, Clubbing, Absent pulmonary arter... OMIM:600460
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn... ORPHA:93322
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata,... OMIM:100300
7Q11.23 Microduplication Syndrome
Sacral dimple, Ventricular septal defect, Cutis marmorata, Short neck, Pectus excavatum, Long fin... ORPHA:96121
Cat Eye Syndrome
Ventricular septal defect, Absent radius, Patent ductus arteriosus, Hypoplastic left heart, Total... OMIM:115470
Lathosterolosis
Abnormal thoracic spine morphology, Toe syndactyly, Postaxial hand polydactyly, Meningocele, Post... ORPHA:46059
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Overlapping toe, Pectus excavatum, Patent ductus arteriosus, Hip dislo... OMIM:618268
Radio-Tartaglia Syndrome
Brachydactyly, Ventricular septal defect, Scoliosis, Tapered finger OMIM:619312
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Cyanosis, Clubbing, Hypoxemia, Neonatal death OMIM:610921
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Proximal placement of thumb, Kyphosis, Dilated cardiomyopathy, Hip dys... ORPHA:261250
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect, 2-3 toe syndactyly OMIM:608572
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Fanconi Anemia, Complementation Group N
Short thumb, Ventricular septal defect, Short neck OMIM:610832
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ventricular septal defect, Tapered finger, Pectus excavatum, Kyphosis, Short toe, Patent ductus a... ORPHA:464311
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Ventricular septal defect, Short neck, Pancreatic lymphangiectasis, Postaxial hand polydactyly, P... ORPHA:1655
Costello Syndrome
Ventricular septal defect, Short neck, Mitral valve prolapse, Ulnar deviation of finger, Pulmonic... ORPHA:3071
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Postaxial hand polydactyly, Ventricular septal d... ORPHA:75389
Myopathy With Extrapyramidal Signs
Ventricular septal defect, Short neck OMIM:615673
Fryns Syndrome
Prominent fingertip pads, Ventricular septal defect, Rocker bottom foot, Proximal placement of th... OMIM:229850
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Diaphyseal ... ORPHA:217085
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Lumbar hyperlordosis, Ventricular septal defect, Broad hallux, Short neck, Slender finger, Small ... ORPHA:251028
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis, Clubbing OMIM:610910
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Mandibuloacral Dysplasia Progeroid Syndrome
Mitral valve calcification, Sandal gap, Progeroid facial appearance, Decreased fibular diameter, ... OMIM:619127
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Varicose veins, Tetralogy of Fallot OMIM:153400
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect, Broad thumb, Brachydactyly ORPHA:1770
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Calcaneovalgus deformi... ORPHA:3078
Nephrotic Syndrome, Type 11
Arachnodactyly, Ventricular septal defect, Partial duplication of thumb phalanx, Dilated cardiomy... OMIM:616730
Cloacal Exstrophy
Spina bifida, Myelomeningocele, Abnormal tibia morphology, Hemivertebrae, Hip dislocation, Abnorm... ORPHA:93929
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Abnormal pulmonary valve morphology, Preaxial hand polydact... ORPHA:857
Keutel Syndrome
Miscarriage, Ventricular septal defect, Short hallux, Costal cartilage calcification, Premature f... OMIM:245150
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ventricular septal defect, Rocker bottom foot, Metatarsus adductus, Patent ductus arteriosus, Bel... OMIM:214100
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Diaphyseal ... ORPHA:217093
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Ventricular septal defect, Arachnodactyly, Pectus excavatum, Kypho... ORPHA:464306
Cranioectodermal Dysplasia 2
Syndactyly, Short neck, Pectus excavatum, Postaxial hand polydactyly, Patent ductus arteriosus, E... OMIM:613610
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Ventricular septal defect, Rocker bottom foot, Camptodactyly of finger, Cardiomega... OMIM:602782
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Clinodactyly of the 5th finger,... ORPHA:3255
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in infancy, Ventricular septal defect, Death in childhood OMIM:616901
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Genu valgum ORPHA:488627
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Overriding aorta, Ventricular septal defect OMIM:617021
Keutel Syndrome
Pulmonary artery stenosis, Ventricular septal defect, Short distal phalanx of finger ORPHA:85202
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Ventricular septal defect, Hydrocephalus, Subvalvular aorti... OMIM:613001
Cornelia De Lange Syndrome 1
Ventricular septal defect, Cutis marmorata, Proximal placement of thumb, Short neck, Hypoplasia o... OMIM:122470
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Death in infancy, Femur fracture, Hydrocephalus, Death in childhood OMIM:612301
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Sacrococcygeal teratoma, Overlapping fingers, Overlapping toe, Kyph... ORPHA:798
Chops Syndrome
Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Cervical ... OMIM:616368
Mckusick-Kaufman Syndrome
Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Postaxial hand polydactyly, Pate... ORPHA:2473
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Ventricular septal defect, Pectus excavatum, Short toe, Patent ductus arterios... ORPHA:1519
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis OMIM:261680
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta... ORPHA:261494
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Block vertebrae, Hydrocephalus, Partial dupli... OMIM:164210
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Sepsis In Premature Infants
Jaundice, Cyanosis, Petechiae, Purpura ORPHA:90051
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Tapered finger, Hyperlordosis, Hip dislocation, Genu valgum, Broad ribs, Hip dysplasia, Umbilical... OMIM:301066
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Hydrocephalus, Abnorm... ORPHA:363700
Pulmonary Alveolar Microlithiasis
Mitral valve calcification, Cyanosis, Calcification of the aorta, Hypoxemia, Clubbing of fingers,... ORPHA:60025
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Ventricular septal defect, Bowing of the legs, Aplasia/Hypoplasia of the p... OMIM:617063
Short Stature-Micrognathia Syndrome
Ventricular septal defect, Coxa valga, Bowing of the legs, Metaphyseal widening, 2-3 toe syndacty... OMIM:617164
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia, Abnorma... ORPHA:166035
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, S... OMIM:300855
Coffin-Siris Syndrome 1
Prominent interphalangeal joints, Prominent fingertip pads, Clinodactyly of the 5th finger, Atria... OMIM:135900
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Prominent interphalangeal jo... OMIM:614609
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Ventricular septal defect, Broad hallux, Postaxial hand polydactyly, Pat... OMIM:615948
Den Hoed-De Boer-Voisin Syndrome
Sandal gap, Ventricular septal defect, Small hand, 2-3 toe syndactyly, Death in adolescence, Shor... OMIM:619229
Fetal Akinesia Deformation Sequence 1
Hip contracture, Rocker bottom foot, Camptodactyly of finger, Short neck, Hydrocephalus, Thin rib... OMIM:208150
Choanal Atresia
Cyanosis, Polydactyly ORPHA:137914
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... OMIM:618280
3Q29 Microduplication Syndrome
Toe syndactyly, Ventricular septal defect, Sandal gap, Short neck, Camptodactyly of toe ORPHA:251038
Pitt-Hopkins Syndrome
Short neck, Tapered finger, Broad fingertip, Short metatarsal, Small hand, Finger clinodactyly, S... ORPHA:2896
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Thickened ribs, Short neck, Pectus excavatum, Pectus carinatum, Genu... ORPHA:309282
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect ORPHA:79243
Bohring-Opitz Syndrome
Syndactyly, Sacral dimple, Ventricular septal defect, Overlapping toe, Tapered finger, Short toe,... OMIM:605039
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, 2-3 toe cutaneous syndactyly, Patent ductus arteriosus, Coarctation of... OMIM:618454
Aicardi-Goutières Syndrome
Cutis marmorata, Cardiomegaly, Calcification of the aorta, Aortic aneurysm, Scoliosis, Prolonged ... ORPHA:51
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Ventricular septal defect, Abnormal thumb morphology, Metatarsus adductus, Abnormal right ventric... ORPHA:500095
Renpenning Syndrome 1
Ventricular septal defect, Pectus excavatum, Situs inversus totalis, Clinodactyly of the 5th fing... OMIM:309500
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Erythema, Abnormal rib mo... ORPHA:2907
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, T... OMIM:192430
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Sacral dimple, Toe syndactyly, Ventricular septal defect, Camptodactyly of fin... ORPHA:261337
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Abnormal rib morphology, Ov... ORPHA:3404
Atrial Septal Defect, Ostium Secundum Type
Cyanosis, Transient ischemic attack, Right ventricular dilatation, Stroke, Abnormal mitral valve ... ORPHA:99103
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Broad hallux, 1-2 toe syndactyly, Tapered finger, Partial anomalous pu... OMIM:301044
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Hypertrophic cardiomyopathy, Cyanosis, Concentric hypertrophic cardiomyopathy OMIM:252010
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Ectodermal dysplasia, Patent ductus arteriosus, Ventricular septal defect, 2-3 toe syndactyly OMIM:106260
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe cli... ORPHA:217346
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Tapered finger, Short neck, Mitral valve prolapse, Slender long bone, ... ORPHA:444072
Beck-Fahrner Syndrome
Hip dysplasia, Ventricular septal defect, Cardiomegaly OMIM:618798
Monosomy 9P
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial hand polydact... ORPHA:261112
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Patellar hypoplasia, Preaxial foot polydactyly, Aplasia/Hypoplasia of... ORPHA:1827
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Brachydactyly ORPHA:457193
Zellweger Syndrome
Death in infancy, Jaundice, Ventricular septal defect, Epiphyseal stippling ORPHA:912
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Anterior wedging of T12, Com... OMIM:227645
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Trichothiodystrophy
Ventricular septal defect, Prematurely aged appearance, Clubbing, Cardiomyopathy, Thoracic kyphos... ORPHA:33364
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphosco... OMIM:300967
Kleefstra Syndrome Due To 9Q34 Microdeletion
Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morphology, Aortic valve stenos... ORPHA:96147
Opitz Gbbb Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Persistent left s... ORPHA:2745
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Ventricular septal defect, Rocker bottom foot,... ORPHA:163979
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Scoliosis OMIM:223900
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Diamond-Blackfan Anemia 12
Ventricular septal defect, Triphalangeal thumb OMIM:615550
Unilateral Polymicrogyria
Cyanosis, Stroke, Pulmonary arteriovenous malformation, Abnormal heart morphology ORPHA:268943
Amish Lethal Microcephaly
Death in infancy, Spina bifida ORPHA:99742
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect, Oxygen desaturation on exertion, Hypoxemia OMIM:610978
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Interrupted aortic arch OMIM:616920
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Abnormal form of the ... ORPHA:904
Coccidioidomycosis
Pericarditis, Hydrocephalus, Vasculitis, Abnormal long bone morphology, Abnormality of the verteb... ORPHA:228123
Phakomatosis Pigmentokeratotica
Scoliosis, Spina bifida ORPHA:2874
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Meningocele ORPHA:2031
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Small hand OMIM:145420
Omodysplasia 1
Short humerus, Ventricular septal defect, Increased fibular diameter, Short neck, Short tibia, Pu... OMIM:258315
Coffin-Siris Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Short 5th finger,... ORPHA:1465
Distal Deletion 19P
Long toe, Ventricular septal defect, Arachnodactyly, Tricuspid valve prolapse, Umbilical hernia, ... ORPHA:96129
Congenital Disorder Of Glycosylation, Type Iiw
Ventricular septal defect, Pectus excavatum, Pectus carinatum, Narrow chest, Scoliosis, Prolonged... OMIM:619525
Phelan-Mcdermid Syndrome
Sacral dimple, Ventricular septal defect, Patent ductus arteriosus, 2-3 toe syndactyly, Clinodact... OMIM:606232
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... ORPHA:99094
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Arachnodactyly, Overlapping toe, Contracture of the distal interphalangeal joint ... ORPHA:83617
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Short neck, Absent thumb, Short thumb, Partial ... ORPHA:124
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Familial Dysautonomia
Acrocyanosis, Scoliosis ORPHA:1764
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Myelomeningocele, Hydrocepha... OMIM:258040
Curry-Jones Syndrome
Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact... OMIM:601707
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Ventricular septal defect, Short neck, Abnormal sternum morphology, Pulmonic stenosis, Atrial sep... OMIM:607721
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Proximal placement of thumb, Preaxial hand polydactyly, Atrial septal ... OMIM:610536
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Cyanosis, Clubbing OMIM:610913
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Postaxial polydactyly, Abnormal heart morpholog... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Postaxial polydactyly, Abnormal heart morpholog... ORPHA:352665
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Absent thumb, Hypoplasia of the ... ORPHA:96097
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Coarctation of aorta, Clinodactyly of the 5th finger, Subvalvular aort... OMIM:614114
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Pericardial effusion, Jaundice, Dilated cardiomyopathy, Atrial septal ... ORPHA:26793
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Tapered finger, Short neck, Increased femoral anteversion, Small hand,... OMIM:609460
Serkal Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Holoprosencephaly, Atrial septal defec... OMIM:270400
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula... OMIM:618775
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Absent ha... OMIM:216340
Costello Syndrome
Barrel-shaped chest, Hyperextensibility of the finger joints, Ventricular septal defect, Short ne... OMIM:218040
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Prominent scalp veins, Long toe, Short femur, Prematurely ag... OMIM:264090
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Sacral dimple, Ventricular septal defect, Abnormal pulmonary valve morphology, Tap... ORPHA:268261
Alg9-Cdg
Ventricular septal defect, Short neck, Pericardial effusion, Flared metaphysis, Broad ischia, Abn... ORPHA:79328
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele, Hip dislocation ORPHA:2003
Postinfectious Vasculitis
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Cardiomyopathy, Ischemic stroke, Vasculit... ORPHA:48435
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Kyphosis, Abnormal rib morphology, Hip dislocation, Genu valgum, Platyspondyly,... ORPHA:534
Ulnar-Mammary Syndrome
Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Ventricular septal ... OMIM:181450
Trichohepatoenteric Syndrome 1
Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, Large placenta, J... OMIM:222470
Hardikar Syndrome
Ventricular septal defect, Thoracolumbar scoliosis, Jaundice, Partial anomalous pulmonary venous ... OMIM:301068
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Atr... OMIM:620024
Peters-Plus Syndrome
Proximal placement of thumb, Short neck, Hemivertebrae, Short metatarsal, Square pelvis bone, Sho... OMIM:261540
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Lumbar hyperlordosis, Ventricular septal defect, Patent ductus arteriosus, Hip dyspla... OMIM:616975
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Patellar aplasia, Abnormal rib morphology, Slender lo... ORPHA:2554
Arboleda-Tham Syndrome
Brachydactyly, Ventricular septal defect, Sandal gap, Short hallux, Deviation of the hallux, Pect... OMIM:616268
Ethylene Glycol Poisoning
Cyanosis ORPHA:31826
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia,... OMIM:250410
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage ORPHA:369929
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Erythema, Abnormal rib morphology, Cutaneous photosen... ORPHA:2908
Neu-Laxova Syndrome
Scoliosis, Spina bifida ORPHA:2671
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Hypermobile Ehlers-Danlos Syndrome
Venous insufficiency, Hip dislocation, Ascending tubular aorta aneurysm, Scoliosis, Arterial diss... ORPHA:285
Seckel Syndrome 9
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect OMIM:616777
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Hip subluxation, Patent ductus arteriosus, Small hand, Fibular hypopla... ORPHA:444077
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Ventricular septal defect, Metatarsus adductus, Jaundice, Death in adolescence,... OMIM:614866
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Scoliosis, Brachydactyly ORPHA:293987
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Townes-Brocks Syndrome 1
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndac... OMIM:107480
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Cyanosis, Death in childhood OMIM:618426
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Overlapping toe, Ventricular septal defect, Cerebral hemorrhage, Patent ductus arteriosus, Scolio... OMIM:616682
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in infancy, Ventricular septal defect, Death in childhood OMIM:243150
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Sacral dimple, Toe syndactyly, Ventricular septal defect, Tapered finger, Dilatation of the ventr... ORPHA:459070
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocarditis, Erythema, Vasculitis, Cutaneous photosensi... ORPHA:221
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Broad hallux, Avascular necrosis of the capital... ORPHA:353281
Hydrolethalus Syndrome 1
Ventricular septal defect, Complete atrioventricular canal defect, Preaxial hand polydactyly, Pos... OMIM:236680
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Histiocytoid ca... OMIM:309801
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata, Peripheral arterial stenosis OMIM:259900
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Roberts-Sc Phocomelia Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Short neck, Aplasia... OMIM:268300
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Ventricular septal defect, Kyphoscoliosis, Patent ductus arteriosus, Abnormal left... ORPHA:466791
Kabuki Syndrome 1
Prominent fingertip pads, Congenital hip dislocation, Ventricular septal defect, Hydrocephalus, C... OMIM:147920
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Ventricular septal defect, Coarctation of aorta, Cardiomegaly OMIM:614921
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Ventricular septal defect, Progeroid facial appearance, Poor wound h... OMIM:123700
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Hip subluxation OMIM:613457
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Atrial septal defect, Abnormal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Atrial septal defect, Abnormal... ORPHA:353277
Williams-Beuren Syndrome
Hallux valgus, Bicuspid aortic valve, Down-sloping shoulders, Ventricular septal defect, Kyphosco... OMIM:194050
Tetraamelia Syndrome 2
Ventricular septal defect, Hypoplastic pulmonary veins OMIM:618021
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Genu valgum OMIM:617798
Syndromic Diarrhea
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:84064
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Myasthenia Gravis
Acrocyanosis ORPHA:589
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Ventricular septal defect, Premature graying of hair, Cardio... ORPHA:769
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricula... OMIM:619534
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Overlapping toe, Hip dislocation, Holoprosencephaly, Clinodactyly of t... OMIM:613884
Cornelia De Lange Syndrome
Toe syndactyly, Ventricular septal defect, Cutis marmorata, Abnormal morphology of ulna, Short ne... ORPHA:199
Primary Hyperoxaluria
Cardiomyopathy, Acrocyanosis, Cutis marmorata ORPHA:416
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Ventricular septal defect, Bicuspid aortic valve, Kyphosis, Hydrocephalus, Jaundice, A... OMIM:619475
Sotos Syndrome
Sacrococcygeal teratoma, Hip contracture, Ventricular septal defect, Pectus excavatum, Kyphosis, ... ORPHA:821
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Flexion contracture of finger, Meningocele, Poor wound healing, Facial erythema ORPHA:1010
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Short thumb, Short toe, 4-5 toe syndactyly, Patent... OMIM:164280
Brain-Lung-Thyroid Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal cardiac septum morphology, Patent foram... ORPHA:209905
Diets-Jongmans Syndrome
Umbilical hernia, Hip dysplasia, Ventricular septal defect, Interrupted inferior vena cava with a... OMIM:618846
Orofaciodigital Syndrome Type 14
Broad hallux, Ventricular septal defect, Deviation of the hallux, Short neck, Postaxial hand poly... ORPHA:434179
Okamoto Syndrome
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... ORPHA:2729
Alobar Holoprosencephaly
Hydrocephalus, Hip dislocation, Abnormal heart morphology, Neural tube defect, Scoliosis ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Hydrocephalus, Hip dislocation, Abnormal heart morphology, Neural tube defect, Scoliosis ORPHA:93926
Lobar Holoprosencephaly
Hydrocephalus, Hip dislocation, Abnormal heart morphology, Neural tube defect, Scoliosis ORPHA:93924
Semilobar Holoprosencephaly
Hydrocephalus, Hip dislocation, Abnormal heart morphology, Neural tube defect, Scoliosis ORPHA:220386
Opitz Gbbb Syndrome
Umbilical hernia, Ventricular septal defect OMIM:300000
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta OMIM:267750
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Ventricular septal hypertrophy, Small hand OMIM:614947
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:619575
Degcags Syndrome
Syndactyly, Sacral dimple, Toe syndactyly, Ventricular septal defect, Short thumb, Preaxial hand ... OMIM:619488
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Leigh Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect ORPHA:506
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis OMIM:617239
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... ORPHA:438213
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema, Ventricular septal defect OMIM:614653
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary artery stenosis, Ventricular septal defect OMIM:611812
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly ORPHA:96191
Genitopatellar Syndrome
Hip contracture, Congenital hip dislocation, Ventricular septal defect, Patellar aplasia, Inferio... OMIM:606170
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Ventricular septal defect, Tapered finger, Short thumb, Patent ductus arteriosus, Shor... OMIM:619522
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Bowing of the legs, Mitral valve prolapse, Varicose veins, Long hallux OMIM:617107
Pallister-Killian Syndrome
Congenital hip dislocation, Short neck, Camptodactyly of 2nd-5th fingers, Short palm, Clinodactyl... OMIM:601803
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Short finger, Broad finger, Umbilical hernia, Broad phalanx of the toes ORPHA:1934
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Aplasia of the distal phalanx of the 5th toe, Ventricular septal hyper... OMIM:608670
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect OMIM:619306
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Pectus excavatum, Patent ductus arteriosus, Pu... OMIM:235730
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Clinodactyly of the... ORPHA:3047
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventricular septal defect, Prolonged neonatal jaundice OMIM:619418
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Ventricular septal defect, Sandal gap, Short neck, Long fingers, Cutaneous syndactyly, Toe clinod... OMIM:620330
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Calcaneovalgus deformity, Pectus carinatum, Long hallux, Long toe, Syndact... ORPHA:261552
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Prominent floating ribs ORPHA:2785
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Ventricular septal defect ORPHA:1071
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Metatarsus adductus, Osteopathia striata, Right aortic arch, Hip dyspl... ORPHA:513456
Renal Agenesis
Ventricular septal defect ORPHA:411709
Liver Disease, Severe Congenital
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... OMIM:619991
Arima Syndrome
Postaxial foot polydactyly, Occipital meningocele, Postaxial hand polydactyly OMIM:243910
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly ORPHA:141099
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect ORPHA:436252
Goodpasture Syndrome
Cyanosis OMIM:233450
Johanson-Blizzard Syndrome
Ventricular septal defect, Situs inversus totalis, Dilated cardiomyopathy, Clinodactyly of the 5t... OMIM:243800
Penile Agenesis
Atrial septal defect, Ventricular septal defect ORPHA:49

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dvl2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dvl2.

No publications found that use IMPC mice or data for Dvl2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Dvl2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dvl2em1(IMPC)H Indel Mice
Dvl2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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