| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Congenital malformation of the great arteries, Polydactyly, Abnormal hip bone morphology, Syndact... |
ORPHA:294975 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Ventricular septal defect, Renal cyst, Cleft palate, Double outlet right ventr... |
OMIM:231060 |
| Conotruncal Heart Malformations |
|
Coarctation of aorta, Postaxial polydactyly, Complete atrioventricular canal defect, Double outle... |
OMIM:217095 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Midline liver, Pulmonary artery atresia, Dextrocardia, Right aortic arch, Ventricular septal defe... |
OMIM:613751 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Pulmonic stenosis, Enlarged kidney, Asplenia, Cholestasis, Pulmonary hypo... |
OMIM:615415 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... |
ORPHA:93403 |
| Right Atrial Isomerism |
|
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Pulmonic stenosis, Tetralogy of F... |
OMIM:208530 |
| Microphthalmia With Limb Anomalies |
|
Hip dislocation, Abnormal form of the vertebral bodies, Short tibia, Abnormality of the upper lim... |
ORPHA:1106 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Ventricular septal defect, Renal hypoplasia/aplasia, Cleft palate... |
ORPHA:2516 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Pulmonary artery atresia, Short thumb, Atrial septal defect, Ventricular septal defect, Ectopic k... |
ORPHA:401935 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Ventricular septal defect, Unilateral renal agenesis, Cleft palat... |
OMIM:601355 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Dextrocardia, Right aortic arch with mir... |
OMIM:606217 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus, Syndactyly |
OMIM:215850 |
| Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Ventricular septal defect, Hepatic fibrosis, Syndactyly, Esophageal varix, Por... |
OMIM:616589 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Abnormal hand morphology, Short digit, Pseudocoarctation of the aorta, Bicuspid aortic valve, Sho... |
ORPHA:228190 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short finger, Brachydactyly, Pseudocoarctation of the aorta, Bicuspid aortic valve, Short toe, Sh... |
OMIM:604381 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Right aortic arch,... |
OMIM:613854 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
High palate, Dextrocardia, Pulmonic stenosis, Ventricular septal defect, Thoracic aortic aneurysm... |
OMIM:619657 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Low-set ears, Abnormal metaphysis morphology, Proximal placement of thumb, Short neck, Ventricula... |
ORPHA:93267 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Hypoplasia of right ventricle, In... |
OMIM:616749 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Right aortic arch, Total anomalous ... |
OMIM:614779 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal sacrum morphology, Scoliosis, Anal atresia, Short neck, Abnormality of the vertebral col... |
ORPHA:2345 |
| Frontonasal Dysplasia 1 |
|
Median cleft palate, Camptodactyly, Low-set ears, Conductive hearing impairment, Pericallosal lip... |
OMIM:136760 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis, High palate, Asplenia, Polysplenia, Narrow mouth, Microglossia, Hypodontia |
OMIM:612776 |
| Carpenter Syndrome 1 |
|
Scoliosis, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Preaxial foot po... |
OMIM:201000 |
| Basal Cell Nevus Syndrome 1 |
|
Scoliosis, Polydactyly, Vertebral wedging, Cleft palate, Sprengel anomaly, Supernumerary ribs, Ir... |
OMIM:109400 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Anal atresia, Intestinal malrotation, Low-set, posteriorly rotated ears, Hydroceph... |
ORPHA:2166 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Inguinal hernia, Hip dislocation, Generalized joint laxity, Osteoarthritis, Shoulder dislocation,... |
OMIM:618000 |
| Achondrogenesis Type 1B |
|
Aplasia/Hypoplasia of the lungs, Severe short stature, Short thorax, Short neck, Hydrops fetalis,... |
ORPHA:93298 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus, Smooth philtrum, Thin upper lip vermilion, Cleft palate |
OMIM:611867 |
| Isolated Osteopoikilosis |
|
Abnormal long bone morphology, Abnormality of limb bone, Abnormal heart morphology, Cleft palate,... |
ORPHA:166119 |
| Achondrogenesis Type 1A |
|
Aplasia/Hypoplasia of the lungs, Severe short stature, Short thorax, Short neck, Hydrops fetalis,... |
ORPHA:93299 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Multiple prenatal fractures, Cleft palate, Decreased skull ossificatio... |
OMIM:616897 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Mesocardia, Dextrocardia, Asplenia, Atrioventricular canal defect, Polysp... |
OMIM:605376 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Asplenia, Heterotaxy |
OMIM:601086 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Inguinal hernia, Cleft palate, Single transverse palmar crease, Low-set,... |
ORPHA:915 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Abnormality of dental eruption, Camptodactyly of finger, Short distal phalanx of finger, Toe synd... |
ORPHA:1327 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Scoliosis, Inguinal hernia, Atrial septal defect, Cleft palate, Long fingers, Sprengel anomaly, S... |
OMIM:213980 |
| Greenberg Dysplasia |
|
Absent or minimally ossified vertebral bodies, Long clavicles, Metaphyseal cupping, Rhizomelia, M... |
OMIM:215140 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Pulmonary artery atresia, Congenitally corrected transposition of the great arteries with ventric... |
OMIM:617205 |
| Frontometaphyseal Dysplasia 1 |
|
Cervical C2/C3 vertebral fusion, Camptodactyly of finger, Scoliosis, Cleft palate, Hearing impair... |
OMIM:305620 |
| Kagami-Ogata Syndrome |
|
Inguinal hernia, Long clavicles, Ventricular septal defect, Atrial septal defect, Thin ribs, Long... |
OMIM:608149 |
| Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Recurrent sinopulmonary infections, Intestinal malrotation, Atrial situs ... |
ORPHA:244 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonary artery atresia, Right aortic arch, Tetralogy of Fallot, Pulmonic stenosis, Absence of t... |
OMIM:618780 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Scoliosis, Inguinal hernia, Thin ribs, Narrow palate, Supernumerary ribs, Mitral valve prolapse, ... |
OMIM:182212 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Fibrochondrogenesis 1 |
|
Long clavicles, Posterior vertebral hypoplasia, Rhizomelia, Thin ribs, Broad long bones, Cleft pa... |
OMIM:228520 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Hypoplastic aortic arch, Left... |
OMIM:306955 |
| Atelosteogenesis, Type I |
|
Clubbing, Long clavicles, Short metatarsal, Rhizomelia, Cleft palate, Knee dislocation, Fibular a... |
OMIM:108720 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Situs inversus totalis, Hypoplastic left heart, Right aortic arch, Atrial septal defect, Hypoplas... |
OMIM:619702 |
| Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Left Isomerism, Congenitally corrected transposition of the great arterie... |
OMIM:618300 |
| Fibular Hemimelia |
|
Oligodactyly, Increased laxity of ankles, Short tibia, Abnormal heart morphology, Toe syndactyly,... |
ORPHA:93323 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender long bones with narrow diaphyses, Long thorax, Generalized lipodystrophy, Congenital gene... |
OMIM:608154 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Enlarged kidney, Atrial septal defect, Chole... |
OMIM:208540 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
| Triploidy |
|
Macroglossia, Intestinal malrotation, Low-set, posteriorly rotated ears, Short neck, Meningocele,... |
ORPHA:3376 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Scoliosis, Hip dislocation, Abnormal cortical bone morphology, An... |
ORPHA:2484 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal heart morphology, Decreased skull ossification, Short neck, Metaphyseal widening, Ulnar ... |
OMIM:263210 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Scoliosis, Hip dislocation, Inguinal hernia, Long clavicles, Rocker bottom foot, Intercrural pter... |
OMIM:265000 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Aplasia/Hypoplasia of the lungs, Short thumb, Proximal placement ... |
ORPHA:1120 |
| Trisomy 13 |
|
Scoliosis, Ventricular septal defect, Atrial septal defect, Cleft palate, Abnormality of the midd... |
ORPHA:3378 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Short distal phalanx of finger, Optic disc hypoplasia, Ventricular septal defect, Atrial septal d... |
ORPHA:79345 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Anisospondyly, Abnormal heart morphology, Cleft palate, Bowing of the legs, Sev... |
ORPHA:1865 |
| Double Outlet Right Ventricle |
|
Aplasia/Hypoplasia of the thymus, Pulmonary artery atresia, Coarctation of aorta, Hypoplastic lef... |
ORPHA:3426 |
| Syndactyly, Type Iv |
|
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... |
OMIM:186200 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 finger syndactyly, Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricul... |
OMIM:217085 |
| Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the lungs, Abnormality of the humerus, Severe short-limb dwarfism, Aplasia/... |
ORPHA:1263 |
| Holzgreve Syndrome |
|
Hand polydactyly, Hypoplastic left heart, Cleft palate, Cleft upper lip, Renal agenesis, Renal hy... |
OMIM:236110 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Long clavicles, Fifth finger distal phalanx clinodactyly, Cleft palate, ... |
ORPHA:2839 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Scoliosis, Short thumb, Cleft palate, Hearing impairment, Carpal synosto... |
ORPHA:90652 |
| Acrocardiofacial Syndrome |
|
Split foot, Anal atresia, Camptodactyly of finger, Coarctation of aorta, Hallux valgus, Ventricul... |
ORPHA:2008 |
| Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Scoliosis, Short distal phalanx of finger, Bifid uvula, Short metatarsal... |
ORPHA:1826 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Renal cy... |
OMIM:617478 |
| Short-Rib Thoracic Dysplasia 12 |
|
Inguinal hernia, Atelectasis, Ventricular septal defect, Median cleft lip and palate, Short toe, ... |
OMIM:269860 |
| Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Breech presentation, Inguinal hernia, Absent or minimally ossified vertebral bo... |
OMIM:600972 |
| Czeizel-Losonci Syndrome |
|
Single transverse palmar crease, Prominent antitragus, Low-set, posteriorly rotated ears, Spina b... |
ORPHA:2437 |
| Trisomy 1Q |
|
Increased nuchal translucency, Camptodactyly of finger, Anal atresia, Low-set ears, Short thorax,... |
ORPHA:261344 |
| Shprintzen-Goldberg Syndrome |
|
Camptodactyly of finger, Scoliosis, Inguinal hernia, Protruding ear, Mitral valve prolapse, Aplas... |
ORPHA:2462 |
| Achondrogenesis |
|
Aplasia/Hypoplasia of the lungs, Inguinal hernia, Severe short stature, Abnormality of bone miner... |
ORPHA:932 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... |
OMIM:186000 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Double inlet left ventricle, Asplenia, Ventricular septal defect, Atrial septal defect, Atriovent... |
OMIM:270100 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Oligodactyly, Forearm undergrowth, Low-set ears, Absent radius, Short neck, Mis... |
OMIM:251230 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Scoliosis, Hip dislocation, Ventricular septal defect, Atrial septal def... |
ORPHA:99776 |
| Verheij Syndrome |
|
Hip dislocation, Renal cyst, Ventricular septal defect, Cleft palate, Long philtrum, Short 5th fi... |
OMIM:615583 |
| Martsolf Syndrome 1 |
|
Cardiac arrest, Inguinal hernia, Cardiomyopathy, Short toe, Thoracic scoliosis, Short phalanx of ... |
OMIM:212720 |
| Lethal Congenital Contracture Syndrome 10 |
|
Fetal akinesia sequence, Ventricular septal defect, Narrow palate, Thoracic scoliosis, Stiff neck... |
OMIM:617022 |
| Microphthalmia, Syndromic 9 |
|
Tetralogy of Fallot, Right aortic arch with mirror image branching, Ventricular septal defect, At... |
OMIM:601186 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Scoliosis, Hip dislocation, Tetralogy of Fallot, Patellar dislocation, Cleft palate, Broad thumb,... |
ORPHA:3320 |
| Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Scoliosis, Pectus excavatum, High palate, Protruding ear, Atrial septal ... |
ORPHA:776 |
| Cardiofacioneurodevelopmental Syndrome |
|
Camptodactyly, Asplenia, Pulmonic stenosis, Ventricular septal defect, Atrioventricular canal def... |
OMIM:619123 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Pectus excavatum, Low-set ears, Spinal cord compression, Short neck, Abnormal hip bone morphology... |
ORPHA:2522 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Hydrops fetalis, Malar flattening, Short ribs, Polyhydramnios, Advanc... |
OMIM:215045 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tooth agenesis, Ventricular septal defect, Tetralogy of Fallot, Multiple renal cysts, Renal hypop... |
ORPHA:1166 |
| Microphthalmia, Syndromic 12 |
|
Retrognathia, Ventricular septal defect, Pulmonary hypoplasia, Microphthalmia, Neonatal death, Cl... |
OMIM:615524 |
| 20P12.3 Microdeletion Syndrome |
|
Thickened helices, Wolff-Parkinson-White syndrome, Atrial septal defect, Malar flattening, Short ... |
ORPHA:261295 |
| Congenital Alveolar Capillary Dysplasia |
|
Hydronephrosis, Anal atresia, Intestinal malrotation, Hypoplastic left heart, Asplenia, Ventricul... |
ORPHA:210122 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Oligodactyly, High palate, Low-set ears, Overlapping toe, 11 pairs of ribs, Wide anterior fontane... |
OMIM:201170 |
| Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Abnormal cortical bone morphology, Abnormal diaphysis morphology, Ventri... |
ORPHA:2710 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Short stature, Platyspondyly, Short middle phalanx of the 5th finger, Multiple small vertebral fr... |
OMIM:156510 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hip dislocation, Generalized joint laxity, Ventricular septal defect, Tetralogy of Fallot, Atriov... |
ORPHA:508498 |
| Scimitar Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Atrial septal defect, Left superior vena cava draini... |
ORPHA:185 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Short thumb, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallo... |
OMIM:274000 |
| Mohr Syndrome |
|
Partial duplication of the phalanges of the hallux, Scoliosis, Preaxial foot polydactyly, Cleft p... |
OMIM:252100 |
| Neurofaciodigitorenal Syndrome |
|
Abnormal distal phalanx morphology of finger, Pectus excavatum, Low-set ears, External ear malfor... |
ORPHA:2673 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Dermatoglyphic ridges abnormal, Camptodactyly, Small thenar eminence, Inguinal hernia, Spina bifi... |
OMIM:211960 |
| Truncus Arteriosus |
|
Right aortic arch, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Interrup... |
ORPHA:3384 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal metaphysis morphology, Ventricular septal defect, Atrial septal defect, Mesomelic/rhizom... |
ORPHA:1354 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
High palate, Low-set ears, Short neck, Thoracolumbar scoliosis, Cardiomyopathy, Short stature, Ac... |
OMIM:616549 |
| Aicardi Syndrome |
|
Scoliosis, Butterfly vertebrae, Prominence of the premaxilla, Proximal placement of thumb, Spina ... |
OMIM:304050 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... |
ORPHA:3269 |
| Mosaic Trisomy 20 |
|
Clinodactyly, Down-sloping shoulders, Dysplastic tricuspid valve, Scoliosis, Vertebral fusion, Li... |
ORPHA:1724 |
| Stickler Syndrome Type 1 |
|
Osteoarthritis, Abnormal epiphysis morphology, Cleft palate, Platyspondyly, Abnormality of verteb... |
ORPHA:90653 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Ankle pain, Metatarsal osteolysis, Metacarpal osteolysis, Bilateral elbow dislocations, Ulnar dev... |
OMIM:166300 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Low-set ears, Polydactyly, Short neck, Occipital encephalocele, Microphthalmia, Cl... |
OMIM:613885 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Scoliosis, Long clavicles, Ventricular septal defect, Atrial septal defect, Short tibia, Abnormal... |
ORPHA:96334 |
| Cohen Syndrome |
|
Delayed puberty, Scoliosis, Narrow palm, Ventricular septal defect, Slender toe, Mitral valve pro... |
ORPHA:193 |
| Kniest Dysplasia |
|
Abnormal joint morphology, Vertebral wedging, Flexion contracture of finger, Cleft palate, Aplasi... |
ORPHA:485 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Scoliosis, Inguinal hernia, Aplasia/Hypoplasia of the lungs, Ventricular... |
ORPHA:2092 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Polydactyly, Renal cyst |
OMIM:615987 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Interphalangeal joint contracture of finger, C1-C2 subluxation, Thin bony cortex, Wide cranial su... |
OMIM:259600 |
| Schneckenbecken Dysplasia |
|
Advanced ossification of carpal bones, Cleft palate, Metaphyseal irregularity, Brachydactyly, Non... |
OMIM:269250 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Oligodactyly, Abnormality of the humerus, Absent hand, Short thumb, Atrial septal defect, Horsesh... |
ORPHA:2538 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Dental malocclusio... |
OMIM:144750 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Low-set ears, Conductive hearing impairment, Underdeveloped tragus, Atrial septal ... |
ORPHA:79113 |
| Mulibrey Nanism |
|
Single transverse palmar crease, Hypoplastic frontal sinuses, Hydrops fetalis, Intrauterine growt... |
OMIM:253250 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Tetralogy of Fallot, Pulmonary hypoplasia, Multiple renal cysts, Nephropa... |
ORPHA:3033 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Dysplastic tricuspid valve, High palate, Low-set ears, Dysplastic pulmonary valve, Anteriorly pla... |
OMIM:612863 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Scoliosis, Conductive hearing impairment, Short neck, Ventricular septal defect, Abnormal pinna m... |
OMIM:214300 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormally large globe, Complete duplication of the middle phalanx of the 3rd finger, Short hallu... |
ORPHA:363417 |
| Dental Anomalies And Short Stature |
|
Herniation of intervertebral nuclei, Scoliosis, Mandibular prognathia, Amelogenesis imperfecta, S... |
OMIM:601216 |
| Atelosteogenesis, Type Iii |
|
Scoliosis, Tombstone-shaped proximal phalanges, Short neck, Widened distal phalanges, Flat acetab... |
OMIM:108721 |
| Mucopolysaccharidosis, Type Vii |
|
Scoliosis, Cardiomyopathy, Chronic bronchitis, Hearing impairment, Short neck, Hydrocephalus, Rec... |
OMIM:253220 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Tapered finger, Cleft palate, Glossoptosis, Pierre-Robin sequence... |
OMIM:311895 |
| Pallister-Hall Syndrome |
|
Oligodactyly, Hip dislocation, Y-shaped metacarpals, Ventricular septal defect, Mesoaxial foot po... |
OMIM:146510 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect, Widely spaced teeth, Cleft palate, Thick upper lip ... |
OMIM:617616 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Scoliosis, Ulnar deviation of finger, Pectus excavatum, Abnormality of t... |
ORPHA:1101 |
| Meacham Syndrome |
|
Dextrocardia, Coarctation of aorta, Hypoplastic left heart, Right aortic arch, Tetralogy of Fallo... |
OMIM:608978 |
| Cohen Syndrome |
|
Delayed puberty, Lumbar hyperlordosis, Narrow palm, Short metatarsal, Short metacarpal, Short sta... |
OMIM:216550 |
| Distal Duplication 14Q |
|
Abnormal aortic morphology, Abnormal lung lobation, Patent ductus arteriosus, Abnormality of the ... |
ORPHA:1705 |
| Nephronophthisis 16 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Pulmonic ste... |
OMIM:615382 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Short tibia, Unicoronal synostosis, Cleft palate, Bifid tongue, Hypoplastic pelvis, L... |
OMIM:616300 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
| Pycnodysostosis |
|
Spondylolysis, Scoliosis, Osteolytic defects of the distal phalanges of the hand, Rhizomelia, Spo... |
ORPHA:763 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Dextrocardia, Bronchiectasis, Right aortic arch |
OMIM:617577 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Recurre... |
ORPHA:99050 |
| Achondrogenesis, Type Ii |
|
Horizontal ribs, Abnormally large globe, Edema, Hydrops fetalis, Short ribs, Polyhydramnios, Disp... |
OMIM:200610 |
| Cenani-Lenz Syndrome |
|
Oligodactyly, Scoliosis, Hip dislocation, Short thumb, Protruding ear, Hearing impairment, Toe sy... |
ORPHA:3258 |
| Thomas Syndrome |
|
Hypoplastic left heart, Renal hypoplasia/aplasia, Cleft palate, Multicystic kidney dysplasia, Cle... |
ORPHA:3316 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hip dislocation, Cleft palate, Cone-shaped epiphyses of the phala... |
OMIM:309350 |
| Coffin-Lowry Syndrome |
|
Short distal phalanx of finger, Scoliosis, Protruding ear, Abnormal diaphysis morphology, Abnorma... |
ORPHA:192 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Ventricular septal defect, Rocker bottom foot, Cleft palate, Toe syndact... |
ORPHA:1692 |
| Microphthalmia With Limb Anomalies |
|
Hip dislocation, Metatarsal synostosis, Cleft palate, Toe syndactyly, Single transverse palmar cr... |
OMIM:206920 |
| Infantile Sialic Acid Storage Disease |
|
High palate, Hydrocephalus, Hydrops fetalis, Osteopenia, Metaphyseal irregularity, Congestive hea... |
OMIM:269920 |
| Otopalatodigital Syndrome, Type I |
|
Short distal phalanx of finger, Scoliosis, Hip dislocation, Abnormality of the fifth metatarsal b... |
OMIM:311300 |
| Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Stage 5 chronic kidney disease, Polydactyly, Renal cyst, Renal ... |
OMIM:615993 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypoplastic left heart, Asplenia, Tetralogy of Fallot, Hypoplastic aortic arch, Ventricular septa... |
OMIM:265380 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Osteopathia Striata With Cranial Sclerosis |
|
Scoliosis, Bifid uvula, Ventricular septal defect, Atrial septal defect, Cleft palate, Fibular ap... |
OMIM:300373 |
| Campomelic Dysplasia |
|
Scoliosis, Hip dislocation, Shortening of all phalanges of the toes, Thin ribs, Recurrent lower r... |
OMIM:114290 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Oligodactyly, High palate, Low-set, posteriorly rotated ears, Conductive hearing impairment, Apla... |
ORPHA:1307 |
| Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, Postaxia... |
OMIM:615996 |
| Lowry-Maclean Syndrome |
|
Inguinal hernia, Atrioventricular canal defect, Cleft palate, Single transverse palmar crease, Hy... |
ORPHA:2409 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Oligodactyly, Secundum atrial septal defect, Low-set ears, Retrognathia, Decreased fetal movement... |
OMIM:619758 |
| Apert Syndrome |
|
Chronic otitis media, Bifid uvula, Ventricular septal defect, Cleft palate, Hearing impairment, B... |
OMIM:101200 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Short distal phalanx of finger, Abnormal diaphysis morphology, Triangular shaped distal phalanges... |
ORPHA:73230 |
| Ulnar Hemimelia |
|
Scoliosis, Abnormal calcification of the carpal bones, Abnormality of the humeroulnar joint, Apla... |
ORPHA:93320 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Scoliosis, Finger syndactyly, Abnormality of the elbow, Short stature, Abnormal rib morphology, P... |
ORPHA:3268 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Moderate hearing impairment, Short thumb, Osseous finger syndacty... |
ORPHA:370010 |
| Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Scoliosis, Abnormal intestine morphology, Aplasia/Hypoplasia of the lungs, Abnormal... |
ORPHA:1834 |
| Weill-Marchesani Syndrome 2 |
|
Scoliosis, Ventricular septal defect, Short metatarsal, Microspherophakia, Narrow palate, Thin bo... |
OMIM:608328 |
| Multiple Pterygium Syndrome, X-Linked |
|
Short finger, Low-set ears, Vertebral fusion, Fetal akinesia sequence, Abnormal cervical curvatur... |
OMIM:312150 |
| Brachydactyly, Type B1 |
|
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Ventricu... |
OMIM:113000 |
| Van Maldergem Syndrome 2 |
|
Scoliosis, Inguinal hernia, Hearing impairment, Cutaneous finger syndactyly, Wide cranial sutures... |
OMIM:615546 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Deviation of finger, Inguinal hernia, Congenital hip dislocation, Abnormality of the knee, Malar ... |
ORPHA:2412 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormality of fibula morphology, Aqueductal stenosis, Pulmonary hypoplasia, Intrauterine growth ... |
ORPHA:3035 |
| Trisomy 18 |
|
Camptodactyly of finger, Ventricular septal defect, Atrial septal defect, Abnormality of the uppe... |
ORPHA:3380 |
| Distal Duplication 15Q |
|
Camptodactyly of finger, Pectus excavatum, Anal atresia, Joint stiffness, High palate, Short neck... |
ORPHA:1707 |
| Otopalatodigital Syndrome, Type Ii |
|
Spondylolysis, Short thumb, Atrial septal defect, Short metatarsal, Rocker bottom foot, Cleft pal... |
OMIM:304120 |
| Sialidosis Type 2 |
|
Inguinal hernia, Hydrops fetalis, Umbilical hernia, Osteoporosis, Short stature, Kyphosis, Hearin... |
ORPHA:87876 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Pectus excavatum, Scoliosis, High palate, Mandibular prognathia, Kyphosis, Pectus carinatum, Narr... |
OMIM:300676 |
| Sweeney-Cox Syndrome |
|
Median cleft palate, Anal atresia, High palate, Short distal phalanx of finger, Asplenia, Bilater... |
OMIM:617746 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Prominent umbilicus, Scoliosis, Inguinal hernia, Cleft palate, Short 5th finger,... |
OMIM:305400 |
| Holoprosencephaly 9 |
|
Prominent antihelix, Bilateral cleft lip and palate, Underdeveloped tragus, Hydrocephalus, Malar ... |
OMIM:610829 |
| Pde4D Haploinsufficiency Syndrome |
|
Short metatarsal, Hearing impairment, Short toe, Accelerated skeletal maturation, Cone-shaped epi... |
ORPHA:439822 |
| Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the lungs, Occipital encephalocele, Cleft palate, Preaxial hand polydactyly... |
ORPHA:887 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QTc interval, Scoliosis, Short metatarsal, Small finger, Cleft palate, Toe syndactyly, ... |
OMIM:170390 |
| Aicardi Syndrome |
|
Delayed puberty, Scoliosis, Butterfly vertebrae, Hip dysplasia, Prominence of the premaxilla, Pro... |
ORPHA:50 |
| Distal Deletion 19P |
|
Low-set, posteriorly rotated ears, Conductive hearing impairment, Ventricular septal defect, Umbi... |
ORPHA:96129 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, High palate, Protruding ear, Short stature, Tapered finger, Short palm, ... |
ORPHA:85279 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Pulmonary hypoplasia, Finger s... |
ORPHA:2141 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the dentition, Abnormality of the kidney, Polydactyly, Renal cyst, Syndactyly, Bra... |
OMIM:615982 |
| Meckel Syndrome, Type 1 |
|
Polycystic kidney dysplasia, Camptodactyly of finger, Asplenia, Cleft palate, Smooth philtrum, Lo... |
OMIM:249000 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal coronary artery morphology, Coarctation of aorta, A... |
ORPHA:860 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Right aortic arch, Abnormal left ventricle morphology, Abnormal hand morphol... |
OMIM:300845 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Scoliosis, Ventricular septal defect, Atrial septal defect, Protein-losing enteropathy, Narrow pa... |
OMIM:235510 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Butterfly vertebrae, Retrognathia, Esophageal atresia, Duodenal atresia, Low-se... |
OMIM:619227 |
| Turnpenny-Fry Syndrome |
|
Atrial septal defect, Thoracic kyphoscoliosis, Long fingers, Short sternum, Mitral valve prolapse... |
OMIM:618371 |
| 3C Syndrome |
|
Scoliosis, Inguinal hernia, Hypoplastic left heart, Ventricular septal defect, Atrial septal defe... |
ORPHA:7 |
| Shashi-Pena Syndrome |
|
Low-set ears, Scoliosis, Retrognathia, Atrial septal defect, Osteoporosis, Posteriorly rotated ea... |
OMIM:617190 |
| Meier-Gorlin Syndrome 1 |
|
Thin ribs, Cleft palate, Hearing impairment, Aplasia/Hypoplasia of the patella, Cutaneous finger ... |
OMIM:224690 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Scoliosis, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Long fingers, Pa... |
OMIM:618316 |
| Marshall-Smith Syndrome |
|
Short distal phalanx of finger, Scoliosis, Large sternal ossification centers, Hip dysplasia, Ven... |
OMIM:602535 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Short finger, Low-set ears, Vertebral fusion, Fetal akinesia sequence, Abnormal cervical curvatur... |
OMIM:253290 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Scoliosis, Large joint dislocations, Flattened epiphysis, Irregular epiphyses, Posterior scallopi... |
OMIM:603546 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Triphalangeal thumb, Multicystic kidney dysplasia, Postaxial hand polydactyly, Preaxial foot poly... |
ORPHA:2091 |
| Non Rare In Europe: Buschke-Ollendorff Syndrome |
|
Craniosynostosis, Generalized osteosclerosis, Joint stiffness, Abnormal metaphysis morphology, Bo... |
ORPHA:1306 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Abnormal sacrum morphology, Conductive hearing impairment, Abnormal form of the vertebral bodies,... |
ORPHA:93262 |
| Feingold Syndrome 1 |
|
Asplenia, Ventricular septal defect, Short thumb, Interrupted aortic arch, Polysplenia, Short toe... |
OMIM:164280 |
| Camurati-Engelmann Disease, Type 2 |
|
Delayed puberty, Lower limb pain, Mitral regurgitation, Thoracolumbar scoliosis, Knee flexion con... |
OMIM:606631 |
| Van Maldergem Syndrome 1 |
|
Scoliosis, Radial head subluxation, Cutaneous finger syndactyly, Wide cranial sutures, Camptodact... |
OMIM:601390 |
| Orofaciodigital Syndrome Xvii |
|
Clinodactyly, Micropenis, Polydactyly, Tetralogy of Fallot, Central Y-shaped metacarpal, High, na... |
OMIM:617926 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Cardiomyopathy, Intrauterine growth... |
OMIM:608540 |
| Weill-Marchesani Syndrome 1 |
|
Scoliosis, Ventricular septal defect, Microspherophakia, Narrow palate, Thin bony cortex, Brachyd... |
OMIM:277600 |
| Duane-Radial Ray Syndrome |
|
Scoliosis, Short thumb, Ventricular septal defect, Atrial septal defect, Aplasia of metacarpal bo... |
OMIM:607323 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Inguinal hernia, Flexion contracture of finger, Single transverse palmar crease, Diastasis recti,... |
ORPHA:254528 |
| Cerebrocostomandibular Syndrome |
|
Tracheomalacia, Conductive hearing impairment, Spina bifida, Hydranencephaly, Myelomeningocele, M... |
ORPHA:1393 |
| Vacterl With Hydrocephalus |
|
Inguinal hernia, Hip dislocation, Microtia, third degree, Single umbilical artery, Hypoplasia of ... |
ORPHA:3412 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts, Abnormality of the liver |
DECIPHER:47 |
| Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly, Cleft palate, Omphalocele, Postaxial hand polydac... |
ORPHA:945 |
| Pseudodiastrophic Dysplasia |
|
Scoliosis, Malar flattening, Rhizomelia, Omphalocele, Platyspondyly, Phalangeal dislocation, Tali... |
ORPHA:85174 |
| Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ... |
OMIM:620056 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Oligodactyly, Frontal encephalocele, Atrial septal defect, Intrauterine growth retardation, Abnor... |
ORPHA:521308 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Coarctation of aorta, Right aortic arch |
OMIM:140850 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Abnormal sacrum morphology, Low-set, posteriorly rotated ears, Aplasia/Hypopla... |
ORPHA:1926 |
| Stankiewicz-Isidor Syndrome |
|
Micropenis, Short thumb, Ventricular septal defect, 2-3 toe syndactyly, Patent ductus arteriosus,... |
OMIM:617516 |
| Multiple Synostoses Syndrome 3 |
|
Metatarsal synostosis, Hallux varus, Cleft palate, Broad thumb, Humeroradial synostosis, Cubitus ... |
OMIM:612961 |
| Emanuel Syndrome |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Anal atresia, High palate, ... |
OMIM:609029 |
| Heme Oxygenase 1 Deficiency |
|
Proteinuria, Diffuse alveolar hemorrhage, Asplenia, Hemolytic anemia, Cervical lymphadenopathy, H... |
OMIM:614034 |
| Holoprosencephaly 7 |
|
Median cleft palate, Bilateral microphthalmos, Hydrocephalus, Median cleft lip and palate, Unilat... |
OMIM:610828 |
| Fountain Syndrome |
|
Craniofacial hyperostosis, Short distal phalanx of finger, Scoliosis, Pectus excavatum, Spina bif... |
ORPHA:3219 |
| Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Low-set ears, Genu varum, Short thorax, Metaphyseal cupping, Mala... |
ORPHA:85166 |
| Myhre Syndrome |
|
Inguinal hernia, Bifid uvula, Cleft palate, Hearing impairment, Brachydactyly, Severe short statu... |
ORPHA:2588 |
| Chromosome 10Q26 Deletion Syndrome |
|
Protruding ear, Atrial septal defect, Toe syndactyly, Single transverse palmar crease, Short neck... |
OMIM:609625 |
| Joubert Syndrome 18 |
|
Camptodactyly, Renal cyst, Horseshoe kidney, Ventricular septal defect, Postaxial polydactyly, Tr... |
OMIM:614815 |
| Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Scoliosis, Mandibular prognathia, Cleft palate, Vertebral cleftin... |
ORPHA:1248 |
| Lateral Meningocele Syndrome |
|
Scoliosis, Inguinal hernia, Ventricular septal defect, Cleft palate, Keloids, Conductive hearing ... |
OMIM:130720 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Scoliosis, Hip dysplasia, Proximal placement of thumb, Joint dislocation... |
ORPHA:628 |
| Split-Hand/Foot Malformation 3 |
|
Camptodactyly, High palate, Abnormal pinna morphology, Cleft palate, Microretrognathia, Hypoplasi... |
OMIM:246560 |
| Frontorhiny |
|
Encephalocele, Congenital conductive hearing impairment, Camptodactyly of finger, Scoliosis, Lumb... |
ORPHA:391474 |
| C Syndrome |
|
Postaxial foot polydactyly, Scoliosis, Hip dislocation, Ulnar deviation of finger, High palate, V... |
OMIM:211750 |
| Chromosome 9P Deletion Syndrome |
|
Dermatoglyphic variants, Prominent antihelix, Scoliosis, Inguinal hernia, Ventricular septal defe... |
OMIM:158170 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Camptodactyly of finger, Scoliosis, Hip dysplasia, Bifid uvula, Tet... |
OMIM:607872 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hepatosplenomegaly, Renal interstitial fibrosis, Hepatocellular carcinoma, Jaundice, Enlarged kid... |
OMIM:619902 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly |
OMIM:607539 |
| Gm1 Gangliosidosis |
|
Camptodactyly of finger, Scoliosis, Inguinal hernia, Abnormal diaphysis morphology, Ventricular s... |
ORPHA:354 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Calvarial hyperostosis, Scoliosis, Short metatarsal, Hearing impairment, Accelerated skeletal mat... |
OMIM:101800 |
| Mucopolysaccharidosis, Type Iva |
|
Cervical myelopathy, Grayish enamel, Scoliosis, Inguinal hernia, Large elbow, Cervical subluxatio... |
OMIM:253000 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Camptodactyly of finger, Scoliosis, Short distal phalanx of finger, Ventricular septal defect, Fl... |
OMIM:143095 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Situs inversus totalis, Spinal dysraphism, Low-set, posteriorly rotated ears, Pulm... |
ORPHA:1908 |
| Achondrogenesis, Type Ia |
|
Decreased skull ossification, Hypoplasia of the radius, Bowing of the legs, Short neck, Pulmonary... |
OMIM:200600 |
| Van Den Ende-Gupta Syndrome |
|
Protruding ear, Thin ribs, Cleft palate, Overfolded helix, Joint contracture of the hand, Camptod... |
OMIM:600920 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Short distal phalanx of finger, Camptodactyly of finger, Atrial septal defect, Ventricular septal... |
ORPHA:261330 |
| Stormorken Syndrome |
|
Subarachnoid hemorrhage, Hypoplastic spleen, Asplenia, Anemia, Thrombocytopenia, Hematuria, Short... |
OMIM:185070 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Low-set ears, Scoliosis, Anterior encephalocele, Ventricular septal defect, Ho... |
OMIM:601357 |
| Baller-Gerold Syndrome |
|
Bicoronal synostosis, Oligodactyly, Scoliosis, Bifid uvula, Aplasia of metacarpal bones, Aphalang... |
OMIM:218600 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Postaxial foot polydactyly, Dextrocardia, Anal atresia, Low-set ears, Ventricular ... |
OMIM:264480 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Diastema, Cleft lip, Preaxial polydactyly, Postaxial polydactyly,... |
OMIM:617927 |
| Charge Syndrome |
|
Delayed puberty, Secundum atrial septal defect, Scoliosis, Short thumb, Tetralogy of Fallot, Vent... |
OMIM:214800 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Low-set ears, Ventricular septal defect, Atrial septal defect, Sh... |
OMIM:614261 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Micropenis, Asplenia, Ankyloglossia, Slender long bone, Flared metaphysis, Br... |
OMIM:602361 |
| Mckusick-Kaufman Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Cle... |
ORPHA:2473 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectop... |
ORPHA:2476 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Atrial septal defe... |
ORPHA:1209 |
| Bardet-Biedl Syndrome 11 |
|
Abnormality of the kidney, Polydactyly |
OMIM:615988 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
High palate, Scoliosis, Respiratory tract infection, Tapered finger, Long fingers, 2-3 toe syndac... |
OMIM:218000 |
| Myhre Syndrome |
|
Ventricular septal defect, Atrial septal defect, Cleft palate, Hearing impairment, Short toe, Con... |
OMIM:139210 |
| Hydrolethalus |
|
Low-set, posteriorly rotated ears, Low-set ears, Retrognathia, Bifid uvula, Hydrocephalus, Polyhy... |
ORPHA:2189 |
| Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Scoliosis, Short neck, Polyhydramnios, Short stature, Cleft pa... |
ORPHA:1394 |
| Cardioacrofacial Dysplasia 1 |
|
Long thorax, Postaxial polydactyly, Atrioventricular canal defect, Complete atrioventricular cana... |
OMIM:619142 |
| Distal Xq28 Microduplication Syndrome |
|
High palate, Predominantly lower limb lymphedema, Short stature, Upper eyelid edema, Metatarsus a... |
ORPHA:293939 |
| Rubinstein-Taybi Syndrome 1 |
|
Scoliosis, Hypoplastic left heart, Short thumb, Polydactyly, Ventricular septal defect, Atrial se... |
OMIM:180849 |
| Dysostosis, Stanescu Type |
|
Macroglossia, Increased bone mineral density, Pectus excavatum, Scoliosis, Persistent open anteri... |
ORPHA:1798 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Micropeni... |
ORPHA:2326 |
| Lateral Meningocele Syndrome |
|
Prominent metopic ridge, Scoliosis, Inguinal hernia, Ventricular septal defect, Conductive hearin... |
ORPHA:2789 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Thoracic hypoplasia, Horizontal ribs, Hypoplastic ilia, Low-set ears, Lateral clavicle hook, Post... |
OMIM:617895 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Scoliosis, Aplasia/Hypoplasia of the lungs, Abnormal cortical bone morph... |
ORPHA:2635 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hip dislocation, Hydrocephalus, Abnormality of the vertebral column, Malar flattening, Coxa valga... |
OMIM:109120 |
| Bartsocas-Papas Syndrome 1 |
|
Oligodactyly, Inguinal hernia, Short thumb, Cleft palate, Cupped ear, Popliteal pterygium, Patent... |
OMIM:263650 |
| Cleidocranial Dysplasia 2 |
|
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Short distal phalanx of finge... |
OMIM:620099 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Pectus excavatum, Narrow maxilla, Inguinal hernia, Bruising susceptibility, Lop ear, Hyperextensi... |
OMIM:130000 |
| Apert Syndrome |
|
Esophageal atresia, Conductive hearing impairment, Bifid uvula, Hydrocephalus, Finger syndactyly,... |
ORPHA:87 |
| Aorta Coarctation |
|
Stroke, Hypoplastic left heart, Coarctation of the descending aortic arch, Tetralogy of Fallot, H... |
ORPHA:1457 |
| Lamb-Shaffer Syndrome |
|
Scoliosis, Thoracic kyphosis, Hip dysplasia, Micrognathia, Fused cervical vertebrae, Mild postnat... |
ORPHA:530983 |
| Emanuel Syndrome |
|
Tooth malposition, Bifid uvula, Atrial septal defect, Ventricular septal defect, Submucous cleft ... |
ORPHA:96170 |
| Acrodysostosis |
|
Abnormal morphology of ulna, Short metatarsal, Mandibular prognathia, Short metacarpal, Short sta... |
ORPHA:950 |
| Andersen-Tawil Syndrome |
|
Prolonged QTc interval, Scoliosis, Abnormal T-wave, Torsade de pointes, Palpitations, 2-3 toe syn... |
ORPHA:37553 |
| Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Ulnar deviation of finger, Abnormality of ... |
ORPHA:1529 |
| Marfan Syndrome |
|
Scoliosis, Microspherophakia, Spondylolisthesis, Tricuspid regurgitation, Narrow palate, Pneumoth... |
OMIM:154700 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
High palate, Low-set ears, Hip dislocation, Protruding ear, Hyperextensibility at wrists, Increas... |
ORPHA:481152 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Hand polydactyly, Abnormal 3rd finger morphology, Pulmonic stenosis, Atrial septal defect, Ventri... |
OMIM:249670 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly |
OMIM:615991 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrial septal defect, Ventricular septal defect, Increased susceptibility to fractures, Mitral va... |
ORPHA:371428 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Short distal phalanx of finger, Osteolysis, Short stature, Hypoplasia of the maxilla |
ORPHA:2776 |
| Fanconi Anemia, Complementation Group I |
|
Short 1st metacarpal, Conductive hearing impairment, Short thumb, Short neck, Ventricular septal ... |
OMIM:609053 |
| Yunis-Varon Syndrome |
|
Hip dislocation, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Cardiomyop... |
ORPHA:3472 |
| Neu-Laxova Syndrome 2 |
|
High palate, Scoliosis, Low-set ears, Decreased fetal movement, Edema, Short neck, Spina bifida, ... |
OMIM:616038 |
| Santos Syndrome |
|
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Short stature... |
OMIM:613005 |
| Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Short distal phalanx of finger, Pectus excavatum, Spina bifida, Finger s... |
ORPHA:957 |
| Metatropic Dysplasia |
|
Scoliosis, Fetal akinesia sequence, Relatively short spine, Anisospondyly, Enlarged joints, Flare... |
OMIM:156530 |
| Limb Body Wall Complex |
|
Amniotic constriction ring, Ventricular septal defect, Atrial septal defect, Abnormal heart morph... |
ORPHA:2369 |
| Codas Syndrome |
|
Scoliosis, Generalized joint laxity, Proximal placement of thumb, Lumbar scoliosis, Ventricular s... |
OMIM:600373 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Scoliosis, Cervicomedullary schisis, Conductive hearing impairment, Short neck, Abnormality of li... |
OMIM:118100 |
| Premature Aging Syndrome, Penttinen Type |
|
Short distal phalanx of finger, Scoliosis, Osteolytic defects of the distal phalanges of the hand... |
OMIM:601812 |
| Keipert Syndrome |
|
Short distal phalanx of finger, Broad distal phalanx of finger, Short stature, Broad thumb, Short... |
ORPHA:2662 |
| Jackson-Weiss Syndrome |
|
Broad metatarsal, Abnormality of fibula morphology, Short metatarsal, Mandibular prognathia, Prea... |
ORPHA:1540 |
| Acrocraniofacial Dysostosis |
|
Short distal phalanx of finger, Partial duplication of the distal phalanx of the hallux, Cleft pa... |
ORPHA:949 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Short distal phalanx of finger, Agenesis of permanent teeth, Polydac... |
OMIM:614091 |
| Velocardiofacial Syndrome |
|
Pulmonary artery atresia, Open mouth, Right aortic arch with mirror image branching, Tetralogy of... |
OMIM:192430 |
| Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Mandibu... |
ORPHA:2790 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Scoliosis, Generalized joint laxity, Protruding ear, Atrial septal defect, Joint dislocation, Cle... |
OMIM:601776 |
| Cleidocranial Dysplasia |
|
Chronic otitis media, Scoliosis, Cleft palate, Hearing impairment, Supernumerary tooth, Decreased... |
ORPHA:1452 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Micropenis, Polydactyly, Brachydactyly |
OMIM:615983 |
| 3Mc Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Cleft palate, Hearing impairment, Short 5th fing... |
OMIM:257920 |
| Coarctation Of Aorta |
|
Coarctation of aorta, Hypoplastic left heart |
OMIM:120000 |
| Fryns Syndrome |
|
Short distal phalanx of finger, Tetralogy of Fallot, Cleft palate, Abnormal aortic morphology, Mu... |
ORPHA:2059 |
| Sifrim-Hitz-Weiss Syndrome |
|
Low-set ears, Anteriorly placed anus, Bifid uvula, Ventricular septal defect, Atrial septal defec... |
OMIM:617159 |
| Miller-Dieker Lissencephaly Syndrome |
|
Inguinal hernia, Polydactyly, Abnormal heart morphology, Cleft palate, Single transverse palmar c... |
OMIM:247200 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae, Anal atresia, Short stature, Short... |
ORPHA:1436 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Mandibular prognathia, Cone-shaped epiphyses... |
ORPHA:397973 |
| Fryns Syndrome |
|
Short distal phalanx of finger, Short thumb, Proximal placement of thumb, Ventricular septal defe... |
OMIM:229850 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atr... |
OMIM:615779 |
| Neonatal Marfan Syndrome |
|
Tricuspid regurgitation, Long fingers, Mitral valve prolapse, Mitral regurgitation, Adducted thum... |
ORPHA:284979 |
| Pentalogy Of Cantrell |
|
Encephalocele, Scoliosis, Ventricular septal defect, Atrial septal defect, Abnormal sternum morph... |
ORPHA:1335 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Ventricular septal defect, Abnormal renal tubule morphology, Renal insuffic... |
ORPHA:1909 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... |
OMIM:174700 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Craniosynostosis, Oligodactyly, Occipital encephalocele, Humeroradial synostosis, Arachnodactyly |
OMIM:614416 |
| Nevus Comedonicus Syndrome |
|
Scoliosis, Preaxial polydactyly, Spina bifida, Finger syndactyly, Toe syndactyly, Spina bifida oc... |
ORPHA:64754 |
| Saethre-Chotzen Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies, Cleft palate, Hearing impairment, Broad thumb, ... |
ORPHA:794 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Protruding ear, Hydrocephalus |
OMIM:618302 |
| Cooper-Jabs Syndrome |
|
Reduced bone mineral density, Camptodactyly of finger, Scoliosis, Anteriorly placed anus, Low-set... |
ORPHA:1488 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Bone pain, Hyperostosis, Arthritis, Ectopic ossi... |
ORPHA:2485 |
| Pallister-Hall Syndrome |
|
Oligodactyly, Inguinal hernia, Hip dislocation, Bifid uvula, Mesoaxial polydactyly, Ventricular s... |
ORPHA:672 |
| Osteoglophonic Dysplasia |
|
Camptodactyly of finger, Inguinal hernia, Short thumb, Short metatarsal, Rhizomelia, Broad thumb,... |
OMIM:166250 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal metacarpal morphology, Cleft palate, Glossoptosis... |
ORPHA:3104 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Decreased fetal movement, Abnormal cortical bone morphology, Atrial septal defect, Hydrocephalus,... |
OMIM:614886 |
| Crouzon Syndrome |
|
Abnormal sacrum morphology, Multiple suture craniosynostosis, Conductive hearing impairment, Hydr... |
ORPHA:207 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Low-set ears, Abnormal metaphysis morphology, Abnormal diaphysis morphol... |
ORPHA:2021 |
| Pseudoaminopterin Syndrome |
|
High palate, Clinodactyly of the 5th toe, Asplenia, Short thumb, Horseshoe kidney, Overlapping to... |
ORPHA:221120 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Overlapping fingers, Overlapping toe, Hallux varus, ... |
OMIM:618167 |
| Hallermann-Streiff Syndrome |
|
Scoliosis, Thin ribs, Abnormality of the hand, Narrow palate, Supernumerary tooth, Recurrent resp... |
OMIM:234100 |
| Pfeiffer Syndrome |
|
Elbow ankylosis, Coronal craniosynostosis, High palate, Hydrocephalus, Finger syndactyly, Syndact... |
OMIM:101600 |
| Mucopolysaccharidosis, Type Ivb |
|
Cervical myelopathy, Grayish enamel, Scoliosis, Inguinal hernia, Hip dysplasia, Cervical subluxat... |
OMIM:253010 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Recurrent respiratory infections, Short distal phalanx of finger, Pectus excavatum, High palate, ... |
OMIM:300534 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae, Narrow palm, Syndactyly, Short statu... |
ORPHA:1445 |
| Carpenter Syndrome |
|
Polydactyly, Finger syndactyly, Syndactyly, Polysplenia, Preaxial foot polydactyly, Toe syndactyl... |
ORPHA:65759 |
| Alagille Syndrome 2 |
|
Proteinuria, Cholestatic liver disease, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fal... |
OMIM:610205 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Congenital hip dislocation, Wormian bones, Omphalocele, Delayed eruption of teeth, ... |
OMIM:614450 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Craniofacial osteosclerosis, Scoliosis, Osteolysis, Abnormal metaphysis morphology, Inflammation ... |
ORPHA:324964 |
| Mandibulofacial Dysostosis With Alopecia |
|
Low-set ears, Conductive hearing impairment, Protruding ear, Trismus, Cleft palate, Bicuspid aort... |
OMIM:616367 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Orbital encephalocele, Microphthalmia, Cleft palate, Abnormal thorax ... |
OMIM:164180 |
| Polycystic Kidney Disease 5 |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... |
OMIM:617610 |
| Phaver Syndrome |
|
Camptodactyly of finger, Short thumb, Ventricular septal defect, Broad thumb, Overfolded helix, T... |
ORPHA:2876 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Abnormally folded helix, Pectus excavatum, High palate, Low-set ears, Ventricular septal defect, ... |
OMIM:309520 |
| Down Syndrome |
|
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defe... |
OMIM:190685 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Aplasia/Hypoplasia of the lungs, Abnormal cortical bone morpholog... |
ORPHA:2204 |
| Trisomy 20P |
|
Camptodactyly of finger, Scoliosis, Inguinal hernia, Protruding ear, Preaxial hand polydactyly, B... |
ORPHA:261318 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Deformed humerus, Dislocated radial head, Micrognathia, Mandibular condyle hypoplasia, Hypoplasia... |
ORPHA:2975 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Nonimmune hydrops fetalis, Retrognathia, Thin ribs, Short stature, Slender long... |
OMIM:618265 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Camptodactyly, Low-set ears, Ventral hernia, Posteriorly rotated ears, Short stature, Omphalocele... |
OMIM:618529 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal chondrodysplasia, Scoliosis, Abnormal diaphysis morphology, Malabsorption, Rhizomelia... |
ORPHA:175 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal... |
OMIM:601331 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Thoracic hypoplasia, Nonimmune hydrops fetalis, Hydrops fetalis, Polyhydramnios, Pulmonary hypopl... |
OMIM:613124 |
| 22Q11.2 Deletion Syndrome |
|
Chronic otitis media, Abnormal pulmonary valve morphology, Scoliosis, Inguinal hernia, Atelectasi... |
ORPHA:567 |
| Donnai-Barrow Syndrome |
|
Low-set ears, Ventricular septal defect, Malar flattening, Umbilical hernia, Wide anterior fontan... |
OMIM:222448 |
| Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Hand oligodactyly, Micrognathia |
OMIM:172880 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cervical vertebral bodies with decreased anteroposterior diameter, Global systolic dysfunction, F... |
OMIM:606842 |
| Igg4-Related Aortitis |
|
Abnormal common carotid artery morphology, Hydronephrosis, Hypereosinophilia, Thoracic aortic ane... |
ORPHA:449400 |
| Prune Belly Syndrome |
|
Aplasia/Hypoplasia of the lungs, Ventricular septal defect, Tetralogy of Fallot, Atrial septal de... |
ORPHA:2970 |
| Meckel Syndrome, Type 10 |
|
Postaxial foot polydactyly, Camptodactyly, Micropenis, Bifid uvula, Renal cyst, Postaxial polydac... |
OMIM:614175 |
| Meckel Syndrome |
|
Situs inversus totalis, Preaxial hand polydactyly, Postaxial foot polydactyly, Aplasia/Hypoplasia... |
ORPHA:564 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Scoliosis, Inguinal hernia, Flattened epiphysis, Advanced ossification of carpal bones, Cleft pal... |
OMIM:618363 |
| Geroderma Osteodysplasticum |
|
Camptodactyly, Severe short stature, Irregular vertebral endplates, Malar flattening, Osteoporosi... |
OMIM:231070 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Anal atresia, Small thenar eminence, Stage 5 chronic kidney disease, Rectal atres... |
OMIM:613390 |
| Fibrodysplasia Ossificans Progressiva |
|
Scoliosis, Hallux valgus, Conductive hearing impairment, Abnormality of the first metatarsal bone... |
OMIM:135100 |
| Fetal Akinesia Deformation Sequence 1 |
|
Elbow ankylosis, Camptodactyly of finger, Fetal akinesia sequence, Thin ribs, Rocker bottom foot,... |
OMIM:208150 |
| Blomstrand Lethal Chondrodysplasia |
|
Metaphyseal cupping, Rhizomelia, Accelerated skeletal maturation, Malar flattening, Pulmonary hyp... |
ORPHA:50945 |
| Orofaciodigital Syndrome Type 10 |
|
Oligodactyly, Retrognathia, Short neck, Metatarsal synostosis, Polysyndactyly of hallux, Preaxial... |
ORPHA:2756 |
| Feingold Syndrome Type 1 |
|
Abnormality of the kidney, Short thumb, Horseshoe kidney, Interrupted aortic arch, Abnormal heart... |
ORPHA:391641 |
| Arthrogryposis, Distal, Type 1C |
|
Pursed lips, High palate, Camptodactyly of finger, Camptodactyly of toe, Bifid uvula, Cleft lip, ... |
OMIM:619110 |
| Femoral-Facial Syndrome |
|
Polycystic kidney dysplasia, Abnormal renal collecting system morphology, Ventricular septal defe... |
OMIM:134780 |
| Alg9-Cdg |
|
Prominent metopic ridge, Bifid uvula, Ventricular septal defect, Atrial septal defect, Rhizomelia... |
ORPHA:79328 |
| Cardiospondylocarpofacial Syndrome |
|
Scoliosis, Ventricular septal defect, Atrial septal defect, Carpal synostosis, Muscular ventricul... |
OMIM:157800 |
| Frontometaphyseal Dysplasia 2 |
|
Delayed puberty, Scoliosis, Bifid uvula, Short metatarsal, Cleft palate, Broad thumb, Patent fora... |
OMIM:617137 |
| Cerebrofacioarticular Syndrome |
|
Tracheomalacia, Camptodactyly, Conductive hearing impairment, Anteriorly placed anus, Pulmonic st... |
ORPHA:314679 |
| Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Polydactyly, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly,... |
OMIM:607361 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Low-set, posteriorly rotated ears, Conductive hearing impairment, Perica... |
ORPHA:306542 |
| Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Scoliosis, Enlarged thorax, Joint stiffness, Inguinal hernia, S... |
ORPHA:584 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Scoliosis, Cardiomyopathy, Ventricular hypertrophy, Hyperplasia of the maxilla, Hypertrophic card... |
OMIM:300280 |
| 8Q22.1 Microdeletion Syndrome |
|
Craniosynostosis, Camptodactyly of finger, Low-set ears, Short neck, Abnormal pinna morphology, A... |
ORPHA:178303 |
| Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Scoliosis, Inguinal hernia, Ventricular septal defect, Atrial septal def... |
ORPHA:373 |
| You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Accessory oral frenulum, Cleft palate, Double aortic arch, Clinodactyly, Va... |
OMIM:616954 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Low-set, posteriorly rotated ears, Bilateral cleft lip and palate, Spina bif... |
ORPHA:1104 |
| Split hand/foot malformation 1 (SHFM1) |
|
Cleft palate, Toe syndactyly, 2-3 toe syndactyly, Median cleft lip, Cutaneous finger syndactyly, ... |
DECIPHER:46 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Pulmonary hypoplasia, Low-set ears, Preaxial polydactyly, Postaxial polydactyly, Short neck, Shor... |
OMIM:616546 |
| Diaphanospondylodysostosis |
|
Enlarged thorax, Absent or minimally ossified vertebral bodies, Myelomeningocele, Short neck, Mis... |
ORPHA:66637 |
| Neu-Laxova Syndrome 1 |
|
Fetal akinesia sequence, Ventricular septal defect, Calcaneovalgus deformity, Rocker bottom foot,... |
OMIM:256520 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Camptodactyly of finger, Scoliosis, Protruding ear, Ventricular septal defect, Tricuspid regurgit... |
ORPHA:261337 |
| Kbg Syndrome |
|
Scoliosis, Vertebral fusion, Thoracic kyphosis, Persistent open anterior fontanelle, Short neck, ... |
ORPHA:2332 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect, Umbilical hernia, Wide anterior fontanel, Posteriorly rotated ears, Om... |
ORPHA:2143 |
| Say Syndrome |
|
Proximal renal tubular acidosis, Ulnar deviation of the 3rd finger, Short distal phalanx of finge... |
OMIM:181180 |
| Acrorenal Syndrome |
|
Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia, Cleft palate, Abnormal ... |
ORPHA:971 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Micropenis, Bilateral talipes equinovarus, Atrial septal defect, Ventricular septal ... |
OMIM:618142 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Thoracic hypoplasia, Diastasis recti, Coat hanger sign of ribs, Ventricular septal defect, Umbili... |
ORPHA:254534 |
| Nail-Patella Syndrome |
|
Thickening of the lateral border of the scapula, Scoliosis, Hypoplastic radial head, Iliac horns,... |
OMIM:161200 |
| Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Postaxial foot polydactyly, Dextrocardia, Micropenis, Stage 5 chronic kid... |
OMIM:615994 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Polydactyly, Meningocele, Intrauterine growth retardation, Microphthalmia, Anencep... |
OMIM:603194 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Genu varum, Arteriovenous malformation, Abnormal hip bone morphology, Abnormal aortic arch morpho... |
ORPHA:1110 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Low-set ears, Hypoplasia of teeth, Fifth finger distal phalanx clinodactyly, Broad long bones, Sh... |
OMIM:257850 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Scoliosis, Absent phalangeal crease, Short neck, Cleft palate, Talipes ... |
OMIM:618469 |
| Phocomelia, Schinzel Type |
|
Protruding ear, Cleft palate, Fibular aplasia, Radial bowing, Hypoplasia of the radius, Foot olig... |
ORPHA:2879 |
| 22Q11.2 Duplication Syndrome |
|
Hydronephrosis, Aplasia/Hypoplasia of the thymus, Hypoplastic left heart, Ventricular septal defe... |
ORPHA:1727 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Scoliosis, Inguinal hernia, Cleft palate, Low-set, posteriorly rotated e... |
ORPHA:2311 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Coarctation of aorta, Righ... |
ORPHA:980 |
| Gm1 Gangliosidosis Type 1 |
|
Cardiomyopathy, Hearing impairment, Flattened femoral head, Flared iliac wing, Beaking of vertebr... |
ORPHA:79255 |
| Gm1-Gangliosidosis, Type I |
|
Scoliosis, Inguinal hernia, Joint stiffness, Severe short stature, Short neck, Hydrops fetalis, H... |
OMIM:230500 |
| Teebi Hypertelorism Syndrome 1 |
|
Coronal craniosynostosis, Ventricular septal defect, Atrial septal defect, Pulmonary hypoplasia, ... |
OMIM:145420 |
| Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Renal cyst, Bile duct proliferation, Cleft palate, Postaxial hand pol... |
OMIM:611561 |
| Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Scoliosis, Aplasia/Hypoplasia of the lungs, Tetralogy of Fal... |
ORPHA:2162 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Atrial septal defect, Hypoplastic aortic arch, Mitral atresia, Patent duc... |
ORPHA:2248 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Inguinal hernia, Hip dislocation, Short thumb, Proximal placement of thumb, Ventricular septal de... |
OMIM:613458 |
| Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Reduced bone mineral density, Inguinal hernia, Joint stiffness, Hypopl... |
ORPHA:577 |
| Spondylospinal Thoracic Dysostosis |
|
Short thorax, Pulmonary hypoplasia, Multiple pterygia, Micrognathia, Arthrogryposis multiplex con... |
OMIM:601809 |
| Split-Hand/Foot Malformation 1 |
|
Foot oligodactyly, Ectrodactyly, Syndactyly, Cleft palate, Broad hallux, Clinodactyly, Triphalang... |
OMIM:183600 |
| Camurati-Engelmann Disease |
|
Delayed puberty, Scoliosis, Abnormality of the humerus, Abnormal diaphysis morphology, Hearing im... |
ORPHA:1328 |
| Fanconi Anemia |
|
Scoliosis, Hip dislocation, Aplasia/Hypoplasia of the uvula, Tetralogy of Fallot, Atrial septal d... |
ORPHA:84 |
| Orofaciodigital Syndrome Viii |
|
High palate, Polydactyly, Short tibia, Syndactyly, Cleft palate, Median cleft lip, Recurrent aspi... |
OMIM:300484 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Renal cyst, Ventricular septal defect, Syndactyly, Duplication of phalanx o... |
OMIM:263630 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Anal atresia, Mandibular prognathia, Short stature, Macrotia, Hypoplasia of the maxilla |
ORPHA:93950 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Perimembranous ventricular ... |
OMIM:600001 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Inguinal hernia, Hydrocephalus, Umbilical hernia, Mandibular prognathia, Abnormal heart morpholog... |
OMIM:601499 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Pulmonary hypoplasia, Renal dysplasia, Abnormal biliary tra... |
ORPHA:3032 |
| Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Scoliosis, Osteolysis, Joint stiffness, Protruding ear, Inguinal hernia,... |
ORPHA:137834 |
| Meier-Gorlin Syndrome 4 |
|
Patellar aplasia, Low-set ears, Lateral clavicle hook, Intrauterine growth retardation, Genu recu... |
OMIM:613804 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short distal phalanx of finger, Scoliosis, Inguinal hernia, Aplasia/Hypoplasia involving the meta... |
OMIM:268310 |
| Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Mitral stenosis, Inguinal hernia, Hip dysplasia, Anterior wedging of L1, Car... |
OMIM:253200 |
| Classical Ehlers-Danlos Syndrome |
|
Scoliosis, Hip dislocation, Generalized joint laxity, Inguinal hernia, Abnormality of the temporo... |
ORPHA:287 |
| Jawad Syndrome |
|
Hallux valgus, Retrognathia, Postaxial polydactyly, Short middle phalanx of the 5th finger, Thora... |
OMIM:251255 |
| Iniencephaly |
|
Rhizomelia, Rocker bottom foot, Absent vertebra, Spina bifida, Hydrocephalus, Mandibular aplasia,... |
ORPHA:63259 |
| Neu-Laxova Syndrome |
|
Rickets, Scoliosis, Bifid uvula, Osteomalacia, Cleft palate, Large hands, Spina bifida, Osteoporo... |
ORPHA:2671 |
| 16P13.11 Microduplication Syndrome |
|
Hand polydactyly, Coarctation of aorta, Ventricular septal defect, Atrial septal defect, Tetralog... |
ORPHA:261243 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Scoliosis, Ventricular septal defect, Hypoplastic right heart, Cleft palate, Hearing impairment, ... |
OMIM:616894 |
| Peters-Plus Syndrome |
|
Scoliosis, Square pelvis bone, Protruding ear, Proximal placement of thumb, Ventricular septal de... |
OMIM:261540 |
| Fryns Microphthalmia Syndrome |
|
Bilateral cleft lip and palate, Abnormality of the ear, Abnormality of the vertebral column, Micr... |
OMIM:600776 |
| Nephronophthisis 20 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, High palate, Low-set, posteriorly rotated ears, Short neck, Cleft palate... |
ORPHA:1703 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retrognathia, Hydrocephalus, Malar flattening, Retinal telangiectasia, Mandibular prognathia, Opt... |
OMIM:620157 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Proteinuria, High palate, Diffuse mesangial sclerosis, Stage 5 chronic kid... |
OMIM:616730 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Anal atresia, Prominent metopic ridge, Scoliosis, Thoracic hemivertebrae, Short stature, Short mi... |
OMIM:309620 |
| Distal Deletion 15Q |
|
Short distal phalanx of finger, Hip dislocation, Hypoplastic left heart, Cleft palate, Bifid tong... |
ORPHA:1596 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Ventricular septal defect, Hydrocephalus, Anophthalmia, Holoprosencephaly, Mi... |
ORPHA:77298 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Scoliosis, Inguinal hernia, Ventricular septal defect, Cleft palate, Spondylolisthesis, Carpal sy... |
OMIM:178110 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Meningocele, Congenital sensorineural hearing impairment, Short neck |
ORPHA:3456 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Cervical C2/C3 vertebral fusion, Hallux valgus, Joint stiffness, Short thumb, Short metatarsal, G... |
OMIM:151200 |
| Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Intrauterine growth retardation, Hypertrophic car... |
ORPHA:295 |
| Fetal Encasement Syndrome |
|
Decreased fetal movement, Tetralogy of Fallot, Lower limb undergrowth, Omphalocele, Bilateral tri... |
OMIM:613630 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Aplasia/Hypoplasia of the lungs, Malar flattening, Abnormal antihelix morpholog... |
ORPHA:2145 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Open mouth, High palate, Short distal phalanx of finger, Atrial septal defect, Cystic renal dyspl... |
OMIM:220500 |
| Mucopolysaccharidosis Type 4 |
|
Grayish enamel, Scoliosis, Joint dislocation, Hearing impairment, Carious teeth, Delayed skeletal... |
ORPHA:582 |
| Mycophenolate Mofetil Embryopathy |
|
Bifid thoracic vertebrae, Tracheomalacia, Ventricular septal defect, Hydrocephalus, Tracheoesopha... |
ORPHA:268249 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal antitragus morphology, Conductive hearing impairment, Short neck, Aplasia/Hypoplasia of ... |
ORPHA:3082 |
| Braddock-Carey Syndrome 1 |
|
Clinodactyly, Camptodactyly, Anteriorly placed anus, Ventricular septal defect, Pierre-Robin sequ... |
OMIM:619980 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Scoliosis, Hip dysplasia, Proximal placement of thumb, Hallux valgus, Short neck, Spina bifida, H... |
OMIM:613776 |
| Miller-Dieker Syndrome |
|
Polyhydramnios, Sacral dimple, Omphalocele, Growth delay, Clinodactyly of the 5th finger |
ORPHA:531 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Camptodactyly, Low-set ears, Intrauterine growth retardation, Short stature, Growth delay, Talipe... |
OMIM:617333 |
| Stickler Syndrome |
|
Chronic otitis media, Scoliosis, Hip dislocation, Abnormal diaphysis morphology, Osteoarthritis, ... |
ORPHA:828 |
| Smith-Magenis Syndrome |
|
Scoliosis, Malar flattening, Mandibular prognathia, Short stature, Abnormal heart morphology, Hea... |
OMIM:182290 |
| Klippel-Trénaunay Syndrome |
|
Edema, Atrial septal defect, Hydrops fetalis, Pulmonary embolism, Abnormal tricuspid valve morpho... |
ORPHA:90308 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Coronal craniosynostosis, Short distal phalanx of finger, Conductive hearing impairment, Umbilica... |
ORPHA:2095 |
| Nager Syndrome |
|
Low-set, posteriorly rotated ears, Joint stiffness, Phocomelia, Atresia of the external auditory ... |
ORPHA:245 |
| Kyphomelic Dysplasia |
|
Abnormal metaphysis morphology, Joint stiffness, Lateral clavicle hook, Flat acetabular roof, Bow... |
ORPHA:1801 |
| Bardet-Biedl Syndrome 7 |
|
Polydactyly, Postaxial polydactyly, Narrow mouth, 2-3 toe syndactyly, Clinodactyly |
OMIM:615984 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Microtia, third degree, Bifid uvula, Cleft palate, Hearing impairment, A... |
ORPHA:2554 |
| Femoral-Facial Syndrome |
|
Scoliosis, Inguinal hernia, Hip dysplasia, Preaxial foot polydactyly, Cleft palate, Sprengel anom... |
ORPHA:1988 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal heart valve morphology, Ventr... |
ORPHA:3400 |
| Focal Dermal Hypoplasia |
|
