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 |
|
|