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Gene: Dchs1 MGI:2685011

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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:
dachsous cadherin related 1
Synonyms:
C130033F22Rik,  3110041P15Rik

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 Dchs1 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.

The table below shows human diseases associated to Dchs1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Van Maldergem Syndrome 1
High palate, Short fourth metatarsal, Osteopenia, Anteriorly placed anus, Sacral dimple, Anal atr... OMIM:601390
Cerebrofacioarticular Syndrome
Conductive hearing impairment, Microtia, Pulmonic stenosis, Hypospadias, Osteopenia, Tracheomalac... ORPHA:314679

The table below shows human diseases predicted to be associated to Dchs1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Mitral Valve Prolapse 2
Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral valve prolapse OMIM:610840
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy OMIM:614676
Storm Syndrome
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... OMIM:185069
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... OMIM:614980
Ehlers-Danlos Syndrome, Hypermobility Type
Mitral valve prolapse OMIM:130020
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology ORPHA:2868
Mitral Valve Prolapse 1
Mitral valve prolapse OMIM:157700
Hypoplastic Left Heart Syndrome 2
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia OMIM:614435
Dysosteosclerosis
High palate, Short sternum, Osteopenia, Platyspondyly, Optic atrophy, Broad ribs, Sclerotic scapu... OMIM:224300
Optic Atrophy 8
Mitral valve prolapse OMIM:616648
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Mitral valve prolapse OMIM:225310
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse OMIM:211960
Tarp Syndrome
High palate, Intrauterine growth retardation, Pectus excavatum, Short sternum, Cleft palate, Post... OMIM:311900
Cardiac Valvular Dysplasia, X-Linked
Mitral valve prolapse, Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Sho... OMIM:314400
Tarp Syndrome
Abnormal antihelix morphology, Pectus excavatum, Short sternum, Cleft palate, Optic atrophy, Tong... ORPHA:2886
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, High palate, Abnormal pinna morphology, Short sternum, Short metacarpal, Thi... OMIM:266910
Mass Syndrome
Mitral valve prolapse OMIM:604308
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Mitral valve prolapse ORPHA:2233
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Platyspondyly, Micromelia, ... OMIM:184260
Scarf Syndrome
Short sternum, Micropenis, Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, L... ORPHA:3134
Cornelia De Lange Syndrome 1
High palate, Malrotation of colon, Short sternum, Hiatus hernia, Cleft palate, Otitis media, Hypo... OMIM:122470
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosis, Aortic valve stenosis ORPHA:228410
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Microretrognathia, Cutaneous syndactyly, Shor... OMIM:236500
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vertebral segmentation defect, Joint stiffness, Protruding ear, Renal hypoplasia/aplasia, Cleft p... ORPHA:1166
Hydrocephalus-Obesity-Hypogonadism Syndrome
Mitral valve prolapse ORPHA:2183
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Tracheoesophageal fistula, Abnormality of the ureter, Short neck, Anorectal anomal... ORPHA:1834
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia ORPHA:2248
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse OMIM:616166
Cardiofaciocutaneous Syndrome 2
Mitral valve prolapse OMIM:615278
Diaphanospondylodysostosis
Myelomeningocele, Enlarged thorax, Cleft palate, Abnormal vertebral segmentation and fusion, Shor... ORPHA:66637
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Bilateral conductive hearing impair... OMIM:186500
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse OMIM:173900
Verheij Syndrome
Abnormal cardiac septum morphology, Growth delay, Short stature, Renal agenesis, Hemivertebrae, S... OMIM:615583
Scarf Syndrome
Short sternum, Micropenis, Coronal craniosynostosis, Barrel-shaped chest, Short neck, Abnormal fo... OMIM:312830
Prune Belly Syndrome
Pectus excavatum, Abnormality of the ureter, Congenital hip dislocation, Ventricular septal defec... ORPHA:2970
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Mitral valve prolapse, Patent foram... OMIM:212093
Orofaciodigital Syndrome Type 3
Pectus excavatum, Short sternum, Bifid uvula, Lobulated tongue, Postaxial hand polydactyly, Thora... ORPHA:2752
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, High palate, Abnormal pinna morphology, Short sternum, Hypoplasia... ORPHA:3404
Dental Anomalies And Short Stature
Mitral valve prolapse OMIM:601216
Femoral-Facial Syndrome
Cleft palate, Long penis, Radioulnar synostosis, Abnormality of fibula morphology, Vertebral segm... ORPHA:1988
Cardiospondylocarpofacial Syndrome
Mitral valve prolapse ORPHA:3238
Marshall-Smith Syndrome
High palate, Hydrocephalus, Pectus excavatum, Short sternum, Slender finger, Prominent fingertip ... OMIM:602535
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse OMIM:606631
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Wide anterior fontanel, Short sternum, Non-acidotic proximal tu... OMIM:222448
Orofaciodigital Syndrome Iii
Kyphosis, Pectus excavatum, Short sternum, Bifid tongue, Bifid uvula, Postaxial hand polydactyly,... OMIM:258850
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral valve prolapse OMIM:225320
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Bronchiolitis, Renal cyst, Renal insu... OMIM:615993
Schinzel-Giedion Midface Retraction Syndrome
Short sternum, Hepatoblastoma, Short 1st metacarpal, Short neck, Sacrococcygeal teratoma, Broad r... OMIM:269150
Stickler Syndrome Type 1
Mitral valve prolapse ORPHA:90653
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Micrognathia, Short sternum, Abnormal heart morphology OMIM:184800
Central Core Disease
Mitral valve prolapse ORPHA:597
Fanconi Anemia, Complementation Group O
Anal atresia, Miscarriage, Absent thumb, Short stature, Hypoplasia of the radius, Neonatal death,... OMIM:613390
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, A... ORPHA:2911
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Polydactyly, Renal insufficiency OMIM:615987
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Mitral valve prolapse, Dilated cardiomyopathy OMIM:145350
Atelosteogenesis, Type Ii
Cleft palate, Horizontal sacrum, Platyspondyly, Short neck, Micromelia, Sandal gap, Pulmonary hyp... OMIM:256050
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Abnormal mitral valve morphology, Atrial septal defect, Abnormal form of ... ORPHA:1354
Mosaic Variegated Aneuploidy Syndrome 1
Intrauterine growth retardation, Hydrocephalus, Short sternum, Cleft palate, Micropenis, Short st... OMIM:257300
Diamond-Blackfan Anemia 6
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Mitral valve prolapse, Vent... OMIM:612561
Diaphanospondylodysostosis
Unossified sacrum, Nephrogenic rest, Cleft palate, Short neck, Enlarged kidney, Hammertoe, Dispro... OMIM:608022
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Abnormal pinna morphology, Micrognathia, Syndactyly, Neonatal death, Ventricular septal defect, H... OMIM:228940
Coffin-Siris Syndrome 1
High palate, Abnormal pinna morphology, Short sternum, Prominent fingertip pads, Cleft palate, Ve... OMIM:135900
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Overfolded helix, Camp... ORPHA:2631
Simpson-Golabi-Behmel Syndrome, Type 1
Posterior helix pit, Hydrocephalus, Pectus excavatum, Short sternum, Hepatoblastoma, Cleft palate... OMIM:312870
Atelosteogenesis Type I
Narrow chest, Malrotation of colon, Cleft palate, Short femur, Abnormal ossification involving th... ORPHA:1190
Fragile X Syndrome
Mitral valve prolapse OMIM:300624
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve OMIM:619492
Metatropic Dysplasia
Hydrocephalus, Halberd-shaped pelvis, Cleft palate, Micromelia, Long thorax, Abnormal enchondral ... ORPHA:2635
Momo Syndrome
High palate, Abnormal bone ossification, Short sternum, Short stature, Femoral bowing, Short neck... ORPHA:2563
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Vertebral segmentation defect, Narrow chest, Chronic kidney disease, Hypoplastic left heart, Shor... OMIM:617661
Distal Tetrasomy 15Q
High palate, Hydrocephalus, Abnormal helix morphology, Craniosynostosis, Horseshoe kidney, Pulmon... ORPHA:314588
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Cleft palate, Osteopenia, Platyspondyly, Short neck, Ventricular septal defect, Pulmonary hypopla... OMIM:616897
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Short ribs, Preaxial pol... OMIM:617866
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Cleft palate, Genu valgum, Small epiphyses, Thoracic hypoplasia, Short long bone, Ad... OMIM:618363
Marfanoid Habitus With Situs Inversus
Pulmonic stenosis, Mitral valve prolapse, Situs inversus totalis OMIM:609008
Turnpenny-Fry Syndrome
Tricuspid valve prolapse, High palate, Pectus excavatum, Short sternum, Thoracic kyphoscoliosis, ... OMIM:618371
Short Rib-Polydactyly Syndrome
Nephronophthisis, Cleft palate, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the l... ORPHA:1505
Classical-Like Ehlers-Danlos Syndrome Type 1
Mitral valve prolapse ORPHA:230839
Turner Syndrome Due To Structural X Chromosome Anomalies
High palate, Pectus excavatum, Short sternum, Osteopenia, Short neck, Irregular proximal tibial e... ORPHA:99413
Turner Syndrome
High palate, Pectus excavatum, Short sternum, Osteopenia, Short neck, Irregular proximal tibial e... ORPHA:881
Mosaic Monosomy X
High palate, Pectus excavatum, Short sternum, Osteopenia, Short neck, Irregular proximal tibial e... ORPHA:99228
Monosomy X
High palate, Pectus excavatum, Short sternum, Osteopenia, Short neck, Irregular proximal tibial e... ORPHA:99226
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Abnormal rib cage morphology, Cleft palate, Micropenis, Recurrent upper respiratory ... OMIM:300209
Rhyns Syndrome
Nephronophthisis, Hypoplastic ilia, Osteopenia, Multicystic kidney dysplasia, Abnormal long bone ... ORPHA:140976
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Mitral valve prolapse, Patent foramen ovale OMIM:615539
Fragile X Syndrome
Mitral valve prolapse ORPHA:908
Vacterl/Vater Association
Abnormal cardiac septum morphology, Cleft palate, Tracheoesophageal fistula, Anencephaly, Anorect... ORPHA:887
Peroxisome Biogenesis Disorder 6A (Zellweger)
Low-set ears, Renal cyst, Epiphyseal stippling OMIM:614870
Trisomy 13
Abnormal antihelix morphology, Abnormal helix morphology, Cleft palate, Abnormality of the ureter... ORPHA:3378
Ehlers-Danlos Syndrome, Classic-Like
Mitral valve prolapse, Quadricuspid aortic valve OMIM:606408
Achondrogenesis Type 2
Narrow chest, Abnormal bone ossification, Unossified sacrum, Delayed proximal femoral epiphyseal ... ORPHA:93296
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Severe short stature, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged ... OMIM:618728
Cerebrocostomandibular Syndrome
High palate, Rib gap, Congenital hip dislocation, 11 pairs of ribs, Ventricular septal defect, Ho... OMIM:117650
Lymphedema-Hypoparathyroidism Syndrome
Mitral valve prolapse OMIM:247410
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Myxomatous mitral valve degeneration OMIM:130090
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Mitral valve prolapse, Left ventricular noncompaction OMIM:163800
3C Syndrome
Abnormal mitral valve morphology, Hydrocephalus, Cleft palate, Atrioventricular canal defect, Hem... ORPHA:7
Thanatophoric Dysplasia
Narrow chest, Kyphosis, Joint stiffness, Intrauterine growth retardation, Atrial septal defect, D... ORPHA:2655
Congenital Disorder Of Glycosylation, Type Iig
High palate, Cleft palate, Osteopenia, Short neck, Rhizomelia, Intrauterine growth retardation, V... OMIM:611209
Hajdu-Cheney Syndrome
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Foot acroosteolysis, Osteopenia, ... OMIM:102500
Czeizel-Losonci Syndrome
High palate, Hydrocephalus, Tracheoesophageal fistula, 2-3 finger syndactyly, Pulmonary hypoplasi... ORPHA:2437
Meckel Syndrome, Type 10
Abnormal pinna morphology, Cleft palate, Postaxial polydactyly, Micropenis, Hypospadias, Anenceph... OMIM:614175
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Vertebral segmentation defect, Bicuspid aortic valve, Hypoplastic ... OMIM:618845
Dyssegmental Dysplasia, Silverman-Handmaker Type
Disproportionate short-limb short stature, Micrognathia, Neonatal death, Anisospondyly, Thoracic ... OMIM:224410
Cerebrocostomandibular Syndrome
Posterior rib gap, Kyphosis, Conductive hearing impairment, Clinodactyly of the 5th finger, Myelo... ORPHA:1393
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiom... ORPHA:324410
Vacterl Association With Hydrocephalus
Anal atresia, Hydrocephalus, Aqueductal stenosis, Absent thumb, Radial club hand, Abnormality of ... OMIM:276950
Spondyloepimetaphyseal Dysplasia With Joint Laxity
High palate, Cleft palate, Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal e... ORPHA:93359
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology ORPHA:1277
Gillessen-Kaesbach-Nishimura Syndrome
Large fleshy ears, Wide anterior fontanel, Narrow greater sciatic notch, Flexion contracture, Met... OMIM:263210
Von Willebrand Disease, Type 1
Mitral valve prolapse, Aortic valve stenosis OMIM:193400
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Short ribs, Micropenis, Micrognathia, Micromelia, Renal dysplasia, P... OMIM:241800
Pallister-Hall Syndrome
Cleft palate, Hemivertebrae, Ventricular septal defect, Y-shaped metacarpals, Anteriorly placed a... OMIM:146510
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Short uvula, Micromelia, Pulmonary hypoplasia, Bowing of the long bone... OMIM:614091
Campomelia, Cumming Type
Cleft palate, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Brachydactyly, Multipl... ORPHA:1318
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Momo Syndrome
High palate, Underfolded helix, Short neck, Short sternum OMIM:157980
Short-Rib Thoracic Dysplasia 12
Abnormal pinna morphology, Hydrocephalus, Short neck, Anencephaly, Lobulated tongue, Ventricular ... OMIM:269860
Axial Spondylometaphyseal Dysplasia
Mild postnatal growth retardation, Osteopenia, Platyspondyly, Upper limb undergrowth, Disproporti... ORPHA:168549
Braddock-Carey Syndrome 1
Cleft palate, Small hand, Multicystic kidney dysplasia, Hyperlordosis, Ventricular septal defect,... OMIM:619980
Mosaic Trisomy 9
High palate, Cleft palate, Hemivertebrae, Short neck, Finger clinodactyly, Micromelia, Ventricula... ORPHA:99776
Caudal Regression Syndrome
Joint stiffness, Anal atresia, Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Abno... ORPHA:3027
Renal Tubular Dysgenesis
Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Renotubular dysgenesis, Pulmonary hypopla... ORPHA:3033
Classic Multiminicore Myopathy
Mitral valve prolapse, Right ventricular hypertrophy ORPHA:324604
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Protruding ear, Pectus excavatum, Multicystic kidney dysplasia, Radioulnar synostosis, Hearing ab... ORPHA:3270
Marden-Walker Syndrome
Hydrocephalus, Pectus excavatum, Cleft palate, Abnormality of the upper urinary tract, Pectus car... ORPHA:2461
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Mitral valve prolapse ORPHA:98
Marden-Walker Syndrome
High palate, Cleft palate, Short neck, Radioulnar synostosis, Pyloric stenosis, Pulmonary hypopla... OMIM:248700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Enlarged kidney, Hypoplasia of ... OMIM:613091
Frank-Ter Haar Syndrome
Mitral valve prolapse ORPHA:137834
Boudin-Mortier Syndrome
Mitral valve prolapse OMIM:619543
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Rib fusion, Conductive hearing impairment, Atrial septal defect... ORPHA:261197
Brittle Cornea Syndrome 1
Mitral valve prolapse OMIM:229200
Dahlberg-Borer-Newcomer Syndrome
Mitral valve prolapse ORPHA:1563
Acrorenal-Mandibular Syndrome
Aplasia of the bladder, High palate, Hypoplasia of the radius, Hemivertebrae, Abnormality of the ... OMIM:200980
Von Willebrand Disease
Abnormal mitral valve morphology ORPHA:903
Juberg-Hayward Syndrome
Abnormality of finger, Severe short stature, Hypoplasia of the radius, Hypospadias, Scoliosis, Ra... ORPHA:2319
Tetraamelia-Multiple Malformations Syndrome
Anal atresia, Hydrocephalus, Abnormally ossified vertebrae, Microtia, Micrognathia, Multicystic k... ORPHA:3301
Joubert Syndrome 7
Nephronophthisis, Postaxial polydactyly, Scoliosis, Postaxial hand polydactyly, Renal cyst, Genu ... OMIM:611560
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Short stature, Micrognathia, Short neck, Abnor... ORPHA:1486
Thanatophoric Dysplasia, Type I
Hydrocephalus, Femoral bowing, Short neck, Platyspondyly, Hypoplastic pelvis, Severe platyspondyl... OMIM:187600
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Renal cyst, Preaxial foot polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft palate, Hypospadias, Micrognathia, Ventricular septal defect... OMIM:231060
Harrod Syndrome
High palate, Kyphosis, Protruding ear, Arachnodactyly, Hypospadias, Multicystic kidney dysplasia,... ORPHA:2115
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Short stature, Renal agenesis, Short neck, Renal dysplasia, Abnorm... ORPHA:2578
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Pectus excavatum, Restrictive cardiomyopathy, Osteopenia, Scoliosis, Ureteral stenos... OMIM:615398
Branchiootorenal Syndrome 1
High palate, Cleft palate, Branchial fistula, Congenital hip dislocation, Renal steatosis, Microt... OMIM:113650
Say Syndrome
Short distal phalanx of finger, Cleft palate, Short stature, Proximal renal tubular acidosis, Uln... OMIM:181180
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Congenital hip dislocation, Hypoplastic pelvis, Pulmonary hyp... OMIM:308050
Genitopalatocardiac Syndrome
Kyphosis, Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Hypospadias, Micrognat... ORPHA:2075
Trisomy 20P
Abnormal antihelix morphology, Abnormality of the ureter, Platyspondyly, Short neck, Umbilical he... ORPHA:261318
Trisomy 17P
High palate, Hydrocephalus, Cleft palate, Short neck, Tapered finger, Intrauterine growth retarda... ORPHA:261290
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal pinna morphology, Femoral bowing, Platyspondyly, Short neck, 11 pairs of ribs, Micromeli... OMIM:210710
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Dispro... OMIM:200600
Meier-Gorlin Syndrome 7
High palate, Cleft palate, Craniosynostosis, Ventricular septal defect, Sagittal craniosynostosis... OMIM:617063
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Miscarriage, Cleft palate, Short neck, Micromelia, Anisospondyly, Pulmonary hypopl... ORPHA:1865
Congenital Contractural Arachnodactyly
Mitral valve prolapse ORPHA:115
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cleft palate, Lobulated tongue, Hypoplastic pelvis, Rhizomelia, Pulmonary hypoplasia, Unicoronal ... OMIM:616300
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Hypospadias, Cutaneous synd... OMIM:618316
Spondyloocular Syndrome
Mitral valve prolapse, Atrial septal defect OMIM:605822
Three M Syndrome 1
Growth delay, Increased vertebral height, Clinodactyly of the 5th finger, Postnatal growth retard... OMIM:273750
Mosaic Trisomy 1
Abnormal pinna morphology, Cleft palate, 2-3 finger syndactyly, Finger clinodactyly, Ventricular ... ORPHA:1692
Mucopolysaccharidosis, Type Vii
Hydrocephalus, Anterior beaking of lumbar vertebrae, Platyspondyly, Heparan sulfate excretion in ... OMIM:253220
Trisomy X
Clinodactyly of the 5th finger, Renal hypoplasia/aplasia, Pectus excavatum, Multicystic kidney dy... ORPHA:3375
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the ulna, Hypoplastic pelvis, P... OMIM:208500
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Syndactyly, Brachydactyly, Polydactyly, Renal cyst OMIM:615982
Isolated Polycystic Liver Disease
Gastroesophageal reflux, Gastrointestinal hemorrhage, Back pain, Multiple renal cysts ORPHA:2924
Cap Myopathy
Mitral valve prolapse ORPHA:171881
Greenberg Dysplasia
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... OMIM:215140
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Abnormal pinna morphology, Hydrocephalus, Cleft palate, Urete... ORPHA:90652
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Growth delay, Clinodactyly of the 5th finger, Atrial septal defect... OMIM:179613
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Dysplastic pulmonary valve, Mitral valve prolapse, Dysplastic tricuspid val... OMIM:612863
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... OMIM:608940
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Platyspondyly, Pectus carinatum, Ventricular septal defect, Pulmonary hypoplasia, S... OMIM:263520
Osteopathia Striata With Cranial Sclerosis
High palate, Hydrocephalus, Pectus excavatum, Cleft palate, Overfolded helix, Ventricular septal ... OMIM:300373
Radio-Renal Syndrome
Renal hypoplasia/aplasia, Severe short stature, Chylothorax, High, narrow palate, Hypoplasia of t... ORPHA:3015
Pelvis-Shoulder Dysplasia
Abnormal pinna morphology, Hydrocephalus, Cleft palate, Absent proximal finger flexion creases, M... ORPHA:2839
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Low-set ears, Disproportionate short-limb short stature, Metaphys... ORPHA:85166
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Cleft palate, Short stature, Unilateral renal agenesis, Unilateral chest hypoplasia, Abnormality ... OMIM:308205
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return, Cleft palate, Abnormality of the ureter, Short neck, Umbilical... ORPHA:2311
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Pectus excavatum, Radial deviation of the 2nd finger, Cleft palate, Femoral bowing... OMIM:304120
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Back pain OMIM:174050
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... ORPHA:1909
Distal Monosomy 10Q
Facial diplegia, High palate, Pectus excavatum, Prominent fingertip pads, Craniosynostosis, Cleft... ORPHA:96148
Geleophysic Dysplasia 2
Tricuspid stenosis, Mitral valve prolapse, Mitral stenosis, Aortic valve stenosis OMIM:614185
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Tracheoesophageal fistula, Abnormality of the humerus, Horseshoe kidney, Perineal ... ORPHA:2538
Acro-Renal-Mandibular Syndrome
High palate, Abnormal clavicle morphology, Aplasia/Hypoplasia of the tongue, Hypoplasia of the ra... ORPHA:958
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Pulmonary hypoplasia, Renal dysplasia ORPHA:3032
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
High palate, Corner fracture of metaphysis, Platyspondyly, Biconcave vertebral bodies, Short neck... ORPHA:93315
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Myelomeningocele, Short stature, Hemivertebrae, Spina ... OMIM:613686
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Syndactyly, Hepatic cysts, Ventricular septal defect, Renal cyst, Duplicati... OMIM:263630
Spondylocarpotarsal Synostosis Syndrome
Cleft palate, Scapular winging, Short neck, Pectus carinatum, Disproportionate short-trunk short ... OMIM:272460
Fryns Syndrome
Abnormal helix morphology, Prominent fingertip pads, Cleft palate, Short neck, Ventricular septal... OMIM:229850
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Urethral atresia, Atrioventricular canal defect, Hand polydactyly, T... OMIM:314390
Developmental Delay With Or Without Dysmorphic Facies And Autism
Laryngotracheomalacia, Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Cleft ... OMIM:618454
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Tetralogy of Fallot ORPHA:1919
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Postaxial hand polydactyly, Preaxial foot polydactyly, Triphalangeal thumb, Multicystic kidney dy... ORPHA:2091
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Cardiac Diverticulum
Tricuspid atresia, Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Aortic valve ste... ORPHA:1686
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Hip contracture, Protruding ear, Internally rotated shoulders, Flexion contracture, ... OMIM:617468
Femoral-Facial Syndrome
Abnormal pinna morphology, Cleft palate, Short fourth metatarsal, Hemivertebrae, Radioulnar synos... OMIM:134780
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Abnormal cardiac septum morphology, Short neck, Polycystic kidney dysplasia, Hip disloc... OMIM:608776
9Q21.13 Microdeletion Syndrome
Vertebral segmentation defect, Craniosynostosis, Scoliosis, Polydactyly, Hydronephrosis, Abnormal... ORPHA:531151
Autosomal Recessive Robinow Syndrome
Pectus excavatum, Short neck, Pectus carinatum, Ventricular septal defect, Sandal gap, Umbilical ... ORPHA:1507
Kaposiform Lymphangiomatosis
Abnormality of femur morphology, Pancreatic cysts, Abnormal scapula morphology, Fractures of the ... ORPHA:464329
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Left ventricular hypertrophy, Renal dysplasia, Abnormal renal corticomedulla... OMIM:616733
Thymic Aplasia With Fetal Death
Renal agenesis, Ureteral agenesis, Pulmonary hypoplasia, Stillbirth, Truncus arteriosus OMIM:274210
Peroxisome Biogenesis Disorder 3A (Zellweger)
Low-set ears, Polycystic kidney dysplasia, Epiphyseal stippling OMIM:614859
Cohen Syndrome
Mitral valve prolapse OMIM:216550
Hypertelorism, Microtia, Facial Clefting Syndrome
Conductive hearing impairment, 2-3 toe syndactyly, Cleft palate, Microtia, Micrognathia, Abnormal... OMIM:239800
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Generalized bone demineralization, Short distal phalanx of finger, Triangular shaped distal phala... ORPHA:73230
Campomelic Dysplasia
Poorly ossified cervical vertebrae, High palate, Hydrocephalus, Cleft palate, Femoral bowing, Sho... OMIM:114290
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Ventricular septal defect, Proportionate short stature, Epiphyseal stippling o... ORPHA:79345
Gorham-Stout Disease
Abnormality of femur morphology, Abnormality of finger, Osteomyelitis, Abnormal bone ossification... ORPHA:73
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Pseudoxanthoma Elasticum
Restrictive cardiomyopathy, Mitral valve prolapse, Mitral stenosis OMIM:264800
Meier-Gorlin Syndrome 1
High palate, Cleft palate, Absent glenoid fossa, Hemivertebrae, Birth length less than 3rd percen... OMIM:224690
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Cleft palate, Anencephaly, Ventricular septal defect, Postax... OMIM:611134
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Aqueductal stenosis, Abnormally ossified vertebrae, Intestinal malr... ORPHA:3035
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Ventricular septal defect, Hypoplastic pelvis, Abnormal epiph... ORPHA:2092
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Mitral valve prolapse, Cardiomyopathy OMIM:258450
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Mitral valve prolapse, Atrial septal defect OMIM:300986
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Thin ribs, Flexion contracture, Cleft palate, Micrognathia, Abnormal cervical ... OMIM:312150
Costello Syndrome
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3071
Mosaic Trisomy 16
Ventricular septal defect, Horseshoe kidney, Pulmonary hypoplasia, Anteriorly placed anus, Abnorm... ORPHA:1708
Schinzel-Giedion Syndrome
High palate, Abnormal clavicle morphology, Abnormal helix morphology, Infantile sensorineural hea... ORPHA:798
Osteogenesis Imperfecta, Type I
Mitral valve prolapse OMIM:166200
15Q24 Microdeletion Syndrome
Myelomeningocele, Kyphosis, Anal atresia, Abnormality of toe, Postnatal growth retardation, Intes... ORPHA:94065
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... ORPHA:371428
Trisomy 1Q
Anal atresia, Hydrocephalus, Microretrognathia, Cleft palate, Congenital megaureter, Arachnodacty... ORPHA:261344
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart, Cleft palate ORPHA:3316
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Pulmonic stenosis, Femoral bowing, Cystic renal dysplasia, Enlarged kidney... OMIM:615415
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Spina bifida o... OMIM:102510
Noonan Syndrome 10
Mitral stenosis, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Ventricul... OMIM:616564
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Abnormal pinna morphology, Cleft palate, Decreased calvarial ossification, Short neck, Long thora... OMIM:617925
Pentalogy Of Cantrell
Hydrocephalus, Abnormal sternum morphology, Atrial septal defect, Abnormal pericardium morphology... ORPHA:1335
Joubert Syndrome 16
Renal cyst, Polydactyly, Nephronophthisis, Encephalocele OMIM:614465
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Mitral valve prolapse OMIM:236200
Fanconi Anemia, Complementation Group B
Hydrocephalus, Duodenal atresia, Absent thumb, Micropenis, Overfolded helix, Renal agenesis, Trac... OMIM:300514
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Abnormal... OMIM:616749
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Thin ribs, Flexion contracture, Cleft palate, Micrognathia, Abnormal cervical ... OMIM:253290
Meckel Syndrome, Type 2
Cleft palate, Intestinal malrotation, Anencephaly, Polydactyly, Postaxial hand polydactyly, Renal... OMIM:603194
Jacobsen Syndrome
Short neck, Ventricular septal defect, Pyloric stenosis, Intrauterine growth retardation, Ectopic... ORPHA:2308
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Pectus excavatum, Craniosynostosis, Osteopenia, Upper limb undergrowth, Abnormal heart morphology... ORPHA:369837
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Overfolded helix, Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Rhizomelic arm short... ORPHA:397715
Papillorenal Syndrome
Nephrolithiasis, Sensorineural hearing impairment, Chronic kidney disease, Absence of renal corti... OMIM:120330
Hajdu-Cheney Syndrome
Hydrocephalus, Cleft palate, Osteopenia, Short neck, Biconcave vertebral bodies, Pectus carinatum... ORPHA:955
Noonan Syndrome 13
Mitral valve prolapse, Atrial septal defect OMIM:619087
Schneckenbecken Dysplasia
Cleft palate, Short neck, Platyspondyly, Ovoid vertebral bodies, Umbilical hernia, Dumbbell-shape... OMIM:269250
Oculofaciocardiodental Syndrome
Abnormal cardiac septum morphology, Mitral valve prolapse ORPHA:2712
Genitopatellar Syndrome
Low-set ears, Hip contracture, Atrial septal defect, Gastroesophageal reflux, Short stature, Hypo... ORPHA:85201
Kleefstra Syndrome
Ventricular septal defect, Pyloric stenosis, Hypoplasia of penis, Tracheomalacia, Scoliosis, Tetr... ORPHA:261494
Noonan Syndrome With Multiple Lentigines
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Atrioventricular canal def... ORPHA:500
Cousin Syndrome
Hydrocephalus, Cleft palate, Microtia, first degree, Rhizomelia, Absent proximal finger flexion c... OMIM:260660
Meckel Syndrome 14
Microretrognathia, Postaxial polydactyly, Holoprosencephaly, Single ventricle, Decreased calvaria... OMIM:619879
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Hypoplasia of penis, Holoprosencephaly, Hypospadias, Hemivertebrae, Tracheoesophag... ORPHA:77298
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Mitral valve prolapse OMIM:618874
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Absence of renal corticomedullary differentiation, Neonatal death, Tubulointerstitial fibrosis, E... OMIM:263200
Ehlers-Danlos Syndrome, Classic Type, 1
Mitral valve prolapse OMIM:130000
Pseudoxanthoma Elasticum, Forme Fruste
Mitral valve prolapse OMIM:177850
Joubert Syndrome 14
Hydrocephalus, Postaxial polydactyly, Encephalocele, Renal cyst, Growth delay, Low-set ears, Post... OMIM:614424
Bor Syndrome
Abnormality of the middle ear ossicles, Renal hypoplasia/aplasia, Cleft palate, Stenosis of the e... ORPHA:107
Fryns Syndrome
High palate, Abnormal cardiac septum morphology, Cleft palate, Short neck, Pulmonary hypoplasia, ... ORPHA:2059
Zellweger Syndrome
Sensorineural hearing impairment, High palate, Wide anterior fontanel, Malabsorption, Short statu... ORPHA:912
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect OMIM:121050
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Pectus excavatum, Cleft palate, Symphalangism affecting the phalanges of the hand, P... ORPHA:2990
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Pectus excavatum, Ventricular septal defect, Optic disc pallor, Pylo... ORPHA:464306
C Syndrome
High palate, Dislocated radial head, Renal cortical cysts, Short stature, Micrognathia, Scoliosis... OMIM:211750
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Rib fusion, Anal atresia, Urethral atresia, Thin ribs, Short ribs, Supernumerary vertebrae, Hemiv... OMIM:271520
Meckel Syndrome 13
Micrognathia, Polycystic kidney dysplasia, Occipital encephalocele, Flexion contracture OMIM:617562
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Floating-Harbor Syndrome
Celiac disease, Short neck, 11 pairs of ribs, Broad fingertip, Humeral pseudarthrosis, Congenital... ORPHA:2044
Roifman Syndrome
Irregular vertebral endplates, Hip contracture, Short toe, Clinodactyly of the 5th finger, Short ... OMIM:616651
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Craniosynostosis, Short stature, Micrognathia, Brachydactyly, Ventricular septal defect, Renal cy... ORPHA:166035
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Mitral stenosis, Sensorineural hearing impairment, Butterfly vertebrae, Atrial septal defect, Aor... OMIM:617660
Noonan Syndrome 14
Pulmonic stenosis, Mitral valve prolapse, Hypertrophic cardiomyopathy OMIM:619745
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Short stature, Nephropathy, Gout, Focal segmental glomerulosclerosis, Ren... OMIM:617056
Birt-Hogg-Dube Syndrome
Multiple pulmonary cysts, Renal neoplasm, Large intestinal polyposis, Renal cell carcinoma, Renal... OMIM:135150
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Abnormal pinna morphology, Craniosynostosis, Short neck, Cystic renal dysplasi... OMIM:200995
Alveolar Echinococcosis
Abnormality of bladder morphology, Bone cyst, Abnormal sternum morphology, Abnormal pericardium m... ORPHA:284
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Cone-shaped epiphyses of the phalanges of the hand, Nephronophthisis, Craniosynostos... OMIM:266920
Stickler Syndrome, Type I
Mitral valve prolapse OMIM:108300
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared femoral metaphysis... ORPHA:1427
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Pectus excavatum, Birth length less than 3rd percentile, Tapered f... ORPHA:464311
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Protruding ear, Clinodactyly of the 5th finger, Short stature, Glossoptosis, Multicystic kidney d... ORPHA:2031
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss... ORPHA:93346
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Clinodactyly of the 5th finger, Tracheomalacia, Small hand, Short ... ORPHA:1001
Raine Syndrome
High palate, Abnormal pinna morphology, Hydrocephalus, Pectus excavatum, Cleft palate, Short neck... OMIM:259775
Catel-Manzke Syndrome
High palate, Abnormal pinna morphology, Clinodactyly of the 5th finger, Pectus excavatum, Hyperph... OMIM:616145
Peroxisome Biogenesis Disorder 5A (Zellweger)
Abnormal helix morphology, Cleft palate, Micrognathia, Camptodactyly, Optic nerve dysplasia, Rena... OMIM:614866
2P15P16.1 Microdeletion Syndrome
High palate, Pectus excavatum, Tapered finger, Optic atrophy, Sandal gap, Intrauterine growth ret... ORPHA:261349
Atelosteogenesis Type Ii
Broad phalanx, Cleft palate, Short neck, Micromelia, Upper limb undergrowth, Rhizomelic arm short... ORPHA:56304
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Narrow chest, Abnormal pinna morphology, Hydrocephalus, Atrial septal defect, Cleft palate, Short... OMIM:616546
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Sensorineural hearing impairment, Wide anterior fontanel, Hiatus hernia, Osteopenia, Thoracolumba... OMIM:610199
Cardiac-Valvular Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Mitral valve prolapse, Atrial septal defect, Left ventricular hy... ORPHA:230851
Meckel Syndrome, Type 9
Limb undergrowth, Multicystic kidney dysplasia, Occipital encephalocele OMIM:614209
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... ORPHA:93352
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Micrognathia, Overlapping fingers, Pulmonary hypoplasia, Kn... OMIM:616531
Robinow Syndrome
Tricuspid atresia, Hemivertebrae, Ventricular septal defect, Bifid distal phalanx of the thumb, U... ORPHA:97360
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatocellular carcinoma, Hyperechogenic kidneys,... OMIM:619902
Noonan Syndrome 3
Tricuspid valve prolapse, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Mit... OMIM:609942
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Growth delay, Pectus excavatum, Cleft palate, Micropenis, Supernum... OMIM:263750
Mckusick-Kaufman Syndrome
High palate, Cleft palate, Ventricular septal defect, Ectopic anus, Anal atresia, Tetralogy of Fa... ORPHA:2473
Multiple Pterygium Syndrome, Escobar Variant
High palate, Multiple joint contractures, Cleft palate, Short neck, Down-sloping shoulders, Ulnar... OMIM:265000
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
High palate, Multiple joint contractures, Hydrocephalus, Pectus excavatum, Slender long bones wit... ORPHA:536467
Chromosome 16Q22 Deletion Syndrome
Sensorineural hearing impairment, Growth delay, Wide anterior fontanel, Narrow chest, High palate... OMIM:614541
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Mitral valve prolapse ORPHA:449291
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Mitral valve prolapse OMIM:104350
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele, Polydactyly OMIM:615397
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Cleft palate, Micromelia, Ventricular septal defect, Hammertoe, Pyloric stenosis, ... OMIM:270400
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Gastrointestinal carcinoma, S... ORPHA:2869
Nephronophthisis 16
Aortic valve stenosis, Nephronophthisis, Pulmonic stenosis, Enlarged kidney, Situs inversus total... OMIM:615382
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short distal phalanx of finger, Metaphyseal dysplasia, Craniosynostosis, Short stature, Micrognat... OMIM:250410
Maternal Uniparental Disomy Of Chromosome 2
Chordee, Clinodactyly of the 5th finger, Miscarriage, Hypospadias, Preaxial hand polydactyly, Ren... ORPHA:96179
15q26 overgrowth syndrome
High palate, Abnormal pinna morphology, Craniosynostosis, Short neck, Tapered finger, Horseshoe k... DECIPHER:81
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Micrognathia, Neonatal death, Abnormal thorax morphology, Pulm... OMIM:253310
Lethal Congenital Contracture Syndrome 10
Narrow chest, High palate, Thoracic scoliosis, Narrow palate, Adducted thumb, Micrognathia, Short... OMIM:617022
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Postaxial hand polydactyly, Optic disc pallor, Renal... OMIM:216360
Loeys-Dietz Syndrome 4
Mitral valve prolapse, Bicuspid aortic valve OMIM:614816
Osteogenesis Imperfecta
Abnormality of femur morphology, Hydrocephalus, Pectus excavatum, Femoral bowing, Osteopenia, Bic... ORPHA:666
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Low-set ears, Protruding ear, Arachnodactyly, Multicystic kidney dysplasia, Fetal megacystis, Int... ORPHA:73246
Bardet-Biedl Syndrome 17
Mesoaxial hand polydactyly, Micropenis, Short fourth metatarsal, Polyuria, Brachydactyly, Polydac... OMIM:615994
Nabais Sa-De Vries Syndrome, Type 2
High palate, Protruding ear, Clinodactyly of the 5th finger, Gastroesophageal reflux, Hypoplastic... OMIM:618829
Townes-Brocks Syndrome
Abnormal cardiac septum morphology, Overfolded helix, Ulnar deviation of finger, Anteriorly place... ORPHA:857
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of penis, Short stature, Short neck, Multicystic kidney dysplasia,... ORPHA:110
Cystic Echinococcosis
Bone cyst, Multiple pulmonary cysts, Ovarian cyst, Abnormal subpleural morphology, Abnormality of... ORPHA:400
Severe Congenital Nemaline Myopathy
Facial diplegia, Thin ribs, Adducted thumb, Micropenis, Hypospadias, Flexion contracture, Facial ... ORPHA:171430
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Pulmonary fibrosis, Recurrent respiratory infections ORPHA:2111
Acro-Renal-Ocular Syndrome
Radial club hand, Optic disc coloboma, Hypoplasia of the ulna, Horseshoe kidney, Sandal gap, Vert... ORPHA:959
Smith-Lemli-Opitz Syndrome
Cleft palate, Atrioventricular canal defect, Short neck, Ulnar deviation of finger, Ventricular s... ORPHA:818
Joubert Syndrome 20
Renal cyst, Syndactyly, Postaxial polydactyly OMIM:614970
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Nephrotic syndrome, Flexion contracture, Steatorrhea, Osteopenia, Death in childhood, M... OMIM:212065
Chromosome 17Q12 Deletion Syndrome
High palate, Ovarian cyst, Hypoplasia of the bladder, Upper limb undergrowth, Stage 5 chronic kid... OMIM:614527
Ehlers-Danlos Syndrome, Classic-Like, 2
Mitral valve prolapse OMIM:618000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Micropenis, Anencephaly, Optic nerve dysplasia, Renal dysplasia, Renal cyst, Hydro... OMIM:615287
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Short distal phalanx of finger, Sensorineural ... OMIM:220500
Vacterl With Hydrocephalus
Anal atresia, Hydrocephalus, Renal hypoplasia/aplasia, Aqueductal stenosis, Hypoplasia of the rad... ORPHA:3412
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Gastroesophageal reflux, Absent thumb, ... OMIM:156810
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Pectus excavatum, Rhizo-meso-acromelic limb shortening, Platyspondyly, Short neck, Small epiphyse... OMIM:611717
Alagille Syndrome 2
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Atrial septal defect, Pulmonic sten... OMIM:610205
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Neonatal death, Pulmonary hypoplasia, Lacticaciduria, Int... OMIM:619003
Pseudoxanthoma Elasticum
Restrictive cardiomyopathy, Mitral valve prolapse, Abnormal endocardium morphology ORPHA:758
Seckel Syndrome 1
High palate, Cone-shaped epiphyses of the phalanges of the hand, Abnormal pinna morphology, Cleft... OMIM:210600
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Joint stiffness, Atrial septal defect, Cleft palate, Hypospadias, 11 pairs of ribs, Scoliosis, Br... OMIM:619184
Roberts Syndrome
High palate, Cleft palate, Craniosynostosis, Hypoplasia of the radius, Short neck, Radioulnar syn... ORPHA:3103
Simpson-Golabi-Behmel Syndrome
Pectus excavatum, Abnormal helix morphology, Hepatoblastoma, Cleft palate, Short neck, Congenital... ORPHA:373
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
High palate, Abnormal pinna morphology, Ventricular septal defect, Optic atrophy, Furrowed tongue... OMIM:616975
Desbuquois Dysplasia 2
Pectus excavatum, Cleft palate, Cutaneous syndactyly, Short neck, Platyspondyly, Monkey wrench fe... OMIM:615777
Saul-Wilson Syndrome
Short distal phalanx of finger, Intrauterine growth retardation, Cone-shaped epiphyses of the pha... OMIM:618150
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Renal insufficiency, Death... OMIM:614922
Vater/Vacterl Association
Hypoplasia of the radius, Tracheoesophageal fistula, Radioulnar synostosis, Ventricular septal de... OMIM:192350
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Oligomeganephronia
Secundum atrial septal defect, Renal tubular atrophy, Decreased glomerular filtration rate, Pulmo... ORPHA:2260
Pagod Syndrome
Renal hypoplasia/aplasia, Abnormal clavicle morphology, Hypoplastic left heart, Short stature, Mu... ORPHA:991
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Pectus carinatum, Renal fibrosi... OMIM:618161
Distal Monosomy 12Q
Short neck, Bilateral conductive hearing impairment, Broad hallux, Pyloric stenosis, Congenital h... ORPHA:96149
Cole-Carpenter Syndrome 2
High palate, Kyphosis, Hydrocephalus, Pectus excavatum, Microretrognathia, Thin ribs, Short statu... OMIM:616294
Ebstein Anomaly
Atrial septal defect, Ebstein anomaly of the tricuspid valve OMIM:224700
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Metaphyseal dysplasia, Micropenis, Craniosynostosis, Hypospadias, Osteopeni... OMIM:614732
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Abnormal pinna morphology, Stippled calcification in carpal bones, Postnatal grow... OMIM:302960
Brittle Cornea Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:90354
Trisomy 10P
Flexion contracture of thumb, Intrauterine growth retardation, Short toe, Abnormality of the ear,... ORPHA:171929
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Ebstein anomaly of the tri... OMIM:611878
8P11.2 Deletion Syndrome
Mitral valve prolapse, Atrial septal defect ORPHA:251066
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micromelia, Urethrovaginal fistula, Pulmonary hypoplasia, Abnormal metaphysis morphology, Ectopic... ORPHA:93271
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Renal dysplasia, Renal ... ORPHA:1475
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Narrow chest, Cleft palate, Craniosynostosis, Short tibia, Micrognathia, Sho... OMIM:251230
Tonne-Kalscheuer Syndrome
Velopharyngeal insufficiency, Micropenis, Short stature, Hypospadias, Micrognathia, Brachydactyly... OMIM:300978
Meckel Syndrome, Type 6
Aplasia of the bladder, Hydrocephalus, Cleft palate, Anencephaly, Hepatic cysts, Postaxial hand p... OMIM:612284
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Intrauterine growth retardation, Cleft palate, Micrognathia, Camptod... ORPHA:994
Kagami-Ogata Syndrome
Kyphoscoliosis, Atrial septal defect, Thin ribs, Microtia, Pulmonic stenosis, Flexion contracture... OMIM:608149
Meckel Syndrome, Type 5
Cleft palate, Anencephaly, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Bo... OMIM:611561
Fraser Syndrome 1
Abnormal pinna morphology, Hydrocephalus, Cleft palate, Pulmonary hypoplasia, Encephalocele, Apla... OMIM:219000
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short ribs, Brac... OMIM:617895
Fg Syndrome Type 1
Mitral valve prolapse, Atrial septal defect ORPHA:93932
3Mc Syndrome 1
Conductive hearing impairment, Wide anterior fontanel, Clinodactyly of the 5th finger, Atrial sep... OMIM:257920
Marfanoid-Progeroid-Lipodystrophy Syndrome
Mitral valve prolapse OMIM:616914
Blomstrand Lethal Chondrodysplasia
Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Pulmonary hypoplasia, Bowing of the lon... ORPHA:50945
Cranioectodermal Dysplasia 2
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Short neck, Rhizomelia, Short ribs... OMIM:613610
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal helix morphology, Aminoaciduria, Joint contracture of the hand, Cleft palate, Micrognath... OMIM:214110
Alg3-Cdg
High palate, Abnormal uvula morphology, Abnormal pinna morphology, Macroglossia, Osteopenia, Abno... ORPHA:79321
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, Wide anterior fontanel, Renal cortical cysts, Glycosuria, Neonatal dea... OMIM:231680
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts, Wide anterior fontanel OMIM:614883
1P36 Deletion Syndrome
Abnormal cardiac septum morphology, 11 pairs of ribs, Optic atrophy, Pyloric stenosis, Spinal can... ORPHA:1606
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Nephrolithiasis, Clinodactyly of the 5th finger, Hydroureter, Hip dysplasia, Tapered finger, Pylo... OMIM:617219
Townes-Brocks Syndrome 1
Hydrocephalus, Tracheoesophageal fistula, Ventricular septal defect, Umbilical hernia, Anal atres... OMIM:107480
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hemivertebrae, Tapered finger, Ventricular septal defect, Umbilical hernia, Absent frontal sinuse... OMIM:301040
Legius Syndrome
Pulmonic stenosis, Mitral valve prolapse ORPHA:137605
Stuve-Wiedemann Syndrome 1
Femoral bowing, Short neck, Ulnar deviation of finger, Pulmonary hypoplasia, Ovoid vertebral bodi... OMIM:601559
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Cleft palate, Osteopenia, ... ORPHA:536471
Chromosome 1Q41-Q42 Deletion Syndrome
Vertebral segmentation defect, High palate, Pectus excavatum, Cleft palate, Microtia, 3-4 finger ... OMIM:612530
Hydrocephalus With Associated Malformations
Tibial bowing, Hydrocephalus, Intestinal malrotation, Micrognathia, Short lower limbs, Pulmonary ... OMIM:236640
Autosomal Dominant Polycystic Kidney Disease
Mitral valve prolapse ORPHA:730
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Overlapping toe, Atrial septal defect, Tetralogy of Fallot, Ventricular septal... OMIM:617478
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Cleft palate, Micrognathia, Ureteral stenosis, Dextrocardia, Pulmo... ORPHA:2257
Enthesitis-Related Juvenile Idiopathic Arthritis
Mitral valve prolapse, Dilatation of the ventricular cavity, Abnormal heart morphology ORPHA:85438
Esophageal Atresia
Abnormality of the ear, Cleft palate, Tracheoesophageal fistula, Ventricular septal defect, Pylor... ORPHA:1199
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... OMIM:245600
Distal Renal Tubular Acidosis
Nephrolithiasis, Sensorineural hearing impairment, Growth delay, Aminoaciduria, Decreased glomeru... ORPHA:18
22Q11.2 Deletion Syndrome
Tricuspid atresia, Hydrocephalus, Cleft palate, Overfolded helix, Short neck, Ventricular septal ... ORPHA:567
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Hepatoblastoma, A... ORPHA:96334
Sanjad-Sakati Syndrome
Spinal canal stenosis, Severe intrauterine growth retardation, Hypoplasia of penis, Short stature... ORPHA:2323
Restrictive Dermopathy 1
Decreased calvarial ossification, Ankylosis, Pulmonary hypoplasia, Rocker bottom foot, Limb joint... OMIM:275210
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Overfolded helix, Tapered finger, Enlarged kidney, Cardiomegaly, Tapered toe, Long-c... OMIM:608836
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Partial diaphragmatic absence of pe... ORPHA:2847
Meier-Gorlin Syndrome 3
Birth length less than 3rd percentile, Intrauterine growth retardation, Absent sternal ossificati... OMIM:613803
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, Wide anterior fontanel, 3-Methylglutaric aciduria, Hyperlordosis, Poly... ORPHA:26791
Axial Osteomalacia
Renal cyst, Osteomalacia, Increased bone mineral density OMIM:109130
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal defect, Aortic valve ... ORPHA:210122
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Intestinal malrotation, Syndactyly, Amelia, Pulmonary hypoplasia,... OMIM:601163
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Death in childhood, Renal cyst, Villous atrophy, Protein-losing enteropathy, Proxima... OMIM:602579
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Steatorrhea, Renal cyst, Fat malabsorption, Postnatal growth retardation, Rickets ORPHA:79303
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Short stature, Pulmonic stenosis, Single ven... OMIM:601186
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Sensorineural hearing impairment, Long hallux, Tibial bowing, Protruding ear, Macroglossia, Multi... ORPHA:500095
Mosaic Trisomy 20
Vertebral segmentation defect, Kyphosis, Abnormal mitral valve morphology, Spinal canal stenosis,... ORPHA:1724
3Mc Syndrome 2
Postnatal growth retardation, Cleft palate, Craniosynostosis, Hypospadias, Abnormality of the ver... OMIM:265050
Aphalangy With Hemivertebrae
Aplasia of the phalanges of the toes, Hemivertebrae, Ventricular septal defect, Pulmonary hypopla... OMIM:207620
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst, Death in infancy, Epiphyseal stippling OMIM:614862
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Thauvin-Robinet-Faivre Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:617107
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Cone-shaped epiphysis, Ventricular septal defect, Horseshoe k... OMIM:157800
Distal Monosomy 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Mitral valve prolapse, Cardio... OMIM:602782
Frontometaphyseal Dysplasia 1
Mitral valve prolapse, Cor pulmonale OMIM:305620
Serkal Syndrome
Abnormal penis morphology, Hypospadias, Pulmonic stenosis, Renal agenesis, Hypoplasia of the blad... ORPHA:139466
Kabuki Syndrome 1
High palate, Hydrocephalus, Prominent fingertip pads, Cleft palate, Congenital hip dislocation, V... OMIM:147920
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Cupped ear, Down-sloping shoulders, Mixed hearing impairment, Scapular winging... OMIM:615560
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Distally placed thumb, Cutaneous syndactyly, Anencephaly, Tapered finger, Pyloric st... OMIM:619148
Microphthalmia, Syndromic 3
Sensorineural hearing impairment, Rib fusion, Butterfly vertebrae, Postnatal growth retardation, ... OMIM:206900
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Intrauterine growth... OMIM:210720
Holt-Oram Syndrome
Pectus excavatum, Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Ventricular septal... OMIM:142900
Alg9-Cdg
Short neck, Hypoplasia of the bladder, Enlarged kidney, Ventricular septal defect, Hepatic cysts,... ORPHA:79328
Mosaic Variegated Aneuploidy Syndrome
Duodenal atresia, Clinodactyly of the 5th finger, Atrial septal defect, Cleft palate, Short statu... ORPHA:1052
Phelan-Mcdermid Syndrome
High palate, Protruding ear, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Joint hypermobil... OMIM:606232
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Pectus excavatum, Cleft palate, Craniosynostosis, Hemivertebrae, Short neck, Sacral ... OMIM:213980
Williams Syndrome
Abnormal cardiac septum morphology, Pectus excavatum, Osteopenia, Tracheoesophageal fistula, Down... ORPHA:904
Saethre-Chotzen Syndrome
Abnormal antihelix morphology, Cleft palate, Craniosynostosis, Proximal radio-ulnar synostosis, P... ORPHA:794
Transketolase Deficiency
Atrial septal defect, Increased level of ribose in urine, Ventricular septal defect, Renal cyst, ... ORPHA:488618
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
High palate, Cleft palate, Overfolded helix, Pulmonary hypoplasia, Short distal phalanx of finger... OMIM:614080
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Abnormal helix morphology, Ventricular septal defect, Optic disc pallor, Pulmonary h... OMIM:214100
Neonatal Marfan Syndrome
Tricuspid valve prolapse, Mitral valve prolapse, Abnormal cardiac ventricle morphology ORPHA:284979
Dubowitz Syndrome
Abnormal antihelix morphology, High palate, Hydrocephalus, Pectus excavatum, Craniosynostosis, Re... ORPHA:235
Meckel Syndrome, Type 3
Hydrocephalus, Cleft palate, Multicystic kidney dysplasia, Polydactyly, Postaxial hand polydactyl... OMIM:607361
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Mitral valve prolapse ORPHA:1900
Cutis Laxa, Autosomal Recessive, Type Ic
Bladder diverticulum, Gastroesophageal reflux, Pulmonary artery stenosis, Tracheomalacia, Microgn... OMIM:613177
Tetrasomy 9P
High palate, Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Hydrocephalus,... ORPHA:3310
Fraser Syndrome
High palate, Pulmonary hypoplasia, Umbilical hernia, Encephalocele, Vertebral segmentation defect... ORPHA:2052
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mitral valve prolapse, Dilated cardiomyopathy OMIM:607459
Shprintzen-Goldberg Syndrome
Mitral valve prolapse, Abnormal aortic valve morphology ORPHA:2462
Frank-Ter Haar Syndrome
Double outlet right ventricle, Atrial septal defect, Secundum atrial septal defect, Ventricular s... OMIM:249420
Cerebellar-Facial-Dental Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Tetrasomy 5P
High palate, Overlapping toe, Wide anterior fontanel, Clinodactyly of the 5th finger, Hydrocephal... ORPHA:3309
Roberts-Sc Phocomelia Syndrome
High palate, Abnormal pinna morphology, Hydrocephalus, Cleft palate, Craniosynostosis, Short neck... OMIM:268300
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Aortic valve stenosis, Intestinal malrotation, Neonatal death, Enlarged kid... OMIM:208540
Peters Plus Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Short neck, Microtia, second deg... ORPHA:709
Alagille Syndrome 1
Hemivertebrae, Ventricular septal defect, Hypoplasia of the ulna, Stage 5 chronic kidney disease,... OMIM:118450
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Adenomatous colonic polyposis, Multiple gastric polyps, Stomach cancer, J... ORPHA:480536
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Abnormality of the ureter, Short... OMIM:249000
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Abnormal e... ORPHA:1880
Joubert Syndrome With Hepatic Defect
Hydrocephalus, Neoplasm of the liver, Multicystic kidney dysplasia, Nephropathy, Scoliosis, Optic... ORPHA:1454
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Mitral valve prolapse OMIM:175050
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Yunis-Varon Syndrome
Abnormal pinna morphology, Hydrocephalus, Slender long bones with narrow diaphyses, Absent thumb,... ORPHA:3472
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Atrioventricular canal... OMIM:619135
Minicore Myopathy With External Ophthalmoplegia
High palate, Scoliosis, Pulmonary hypoplasia, Joint laxity, Facial palsy, Recurrent respiratory i... OMIM:255320
Classical-Like Ehlers-Danlos Syndrome Type 2
Mitral valve prolapse, Pericardial effusion ORPHA:536532
Multicentric Osteolysis, Nodulosis, And Arthropathy
Mitral valve prolapse OMIM:259600
Epidermal Nevus Syndrome
Spinal canal stenosis, Thoracolumbar scoliosis, Osteopenia, Polycystic kidney dysplasia ORPHA:35125
Ogden Syndrome
High palate, Pectus excavatum, Short neck, Congenital hip dislocation, Enlarged kidney, Ventricul... OMIM:300855
Duane Retraction Syndrome
Sensorineural hearing impairment, Cleft palate, Abnormal vertebral segmentation and fusion, Hypop... ORPHA:233
Shprintzen-Goldberg Craniosynostosis Syndrome
Mitral valve prolapse OMIM:182212
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction
Nephropathy, Cochlear degeneration, Progressive sensorineural hearing impairment OMIM:172500
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Hematuria, Genu valgum, Abnormal epiphysis morphology, Proteinuria, Umbilical hern... ORPHA:534
Rauch-Steindl Syndrome
Protruding ear, Clinodactyly of the 5th finger, Miscarriage, Attached earlobe, Short stature, Mic... OMIM:619695
Mesomelia-Synostoses Syndrome
Microretrognathia, Progressive forearm bowing, Short umbilical cord, Micromelia, Metacarpal synos... OMIM:600383
Penile Agenesis
Anal atresia, Urethral atresia, male, Atrial septal defect, Urethral fistula, Rectal fistula, Tra... ORPHA:49
Kabuki Syndrome 2
High palate, Prominent fingertip pads, Atrioventricular canal defect, Cleft palate, Horseshoe kid... OMIM:300867
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst, Syndactyly, Postaxial polydactyly OMIM:605231
Cutis Marmorata Telangiectatica Congenita
Reduced bone mineral density, Micrognathia, Multicystic kidney dysplasia, Scoliosis, Short lower ... ORPHA:1556
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Branchio-Oculo-Facial Syndrome
High palate, Conductive hearing impairment, Abnormal pinna morphology, Short stature, Renal agene... ORPHA:1297
Baller-Gerold Syndrome
High palate, Hydrocephalus, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Optic... OMIM:218600
C Syndrome
High palate, Dislocated radial head, Clinodactyly of the 5th finger, Renal hypoplasia/aplasia, Pe... ORPHA:1308
Cloacal Exstrophy
Myelomeningocele, Anal atresia, Renal hypoplasia/aplasia, Hypoplasia of penis, Ureterocele, Intes... ORPHA:93929
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Mitral valve calcification, Cardiomegaly OMIM:231005
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Mitral valve prolapse ORPHA:508533
Hunter-Macdonald Syndrome
Mitral valve prolapse, Bicuspid aortic valve OMIM:611962
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... ORPHA:555874
Cornelia De Lange Syndrome
High palate, Pectus excavatum, Cleft palate, Short 1st metacarpal, Short neck, Micromelia, Radiou... ORPHA:199
3-Methylglutaconic Aciduria Type 7
Renal cyst, 3-Methylglutaconic aciduria, Renal insufficiency, Pneumothorax, Growth delay, Nephroc... ORPHA:445038
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Overlapping toe, Thin ribs, Micropenis, Arachnodactyly, Contracture of the distal interphalangeal... ORPHA:83617
Craniofacial Microsomia
Hydrocephalus, Cleft palate, Hemivertebrae, Anotia, Underdeveloped tragus, Ventricular septal def... OMIM:164210
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Overlapping toe, Intrauterine growth retardation, Flexion contracture of finger, Pectus excavatum... ORPHA:254528
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the phalanges of the toes, Asymmetry of the thora... ORPHA:1112
Van Maldergem Syndrome 1