| Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
| Hypertrophy Of The Breast, Juvenile |
|
Abnormal thorax morphology |
OMIM:113670 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Unilateral renal agenesis, Bilateral renal agenesis, Vertebral segmentation defect, Ureteral atre... |
OMIM:618845 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Narrow chest, Rhizomelia, An... |
OMIM:617661 |
| Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy |
OMIM:248200 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal hypoplasia, Prune belly, Cervical ribs, Preaxial hand polydactyly, Ur... |
OMIM:601389 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Caudal Duplication |
|
Abnormal penis morphology, Intestinal duplication, Myelomeningocele, Bifid sacrum, Renal hypoplas... |
ORPHA:1756 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the ureter, Congenital diaphragmatic hernia, Abnormal gastrointestinal tract morph... |
ORPHA:1834 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Cervicomedullary schisis, Cervical C2/C3 vertebral fusion, Short neck,... |
OMIM:118100 |
| Macular Degeneration, Age-Related, 13 |
|
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen |
OMIM:615439 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Renal agenesis, Abnormality of the vertebral column, Sprengel anomaly,... |
OMIM:601076 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Thin ribs, Block vertebrae, Supernumerary vertebrae, Inguinal hernia, Short ribs, Hydronephrosis,... |
OMIM:271520 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... |
OMIM:610599 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
| Trigonocephaly 1 |
|
Lumbar hemivertebrae, High, narrow palate, Long penis, Meckel diverticulum, Omphalocele, Metopic ... |
OMIM:190440 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| Pseudodiastrophic Dysplasia |
|
Platyspondyly, Rhizomelia, Elbow dislocation, Phalangeal dislocation, Talipes equinovarus, Omphal... |
ORPHA:85174 |
| Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Bell-shaped thorax, Short ribs |
OMIM:187750 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Atypical scarring of skin, Renal agenesis, Abnormality of the vertebral column, Abnormal thorax m... |
ORPHA:294975 |
| Fliedner-Zweier Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Kyphosis, Hydronephrosis, Anal atresia, ... |
OMIM:620511 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Inguinal hernia, Submucous cleft hard palate, Supernumerary ribs, Unilateral cleft palate, Six lu... |
OMIM:619122 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cleft palate, Cryptorchidism, Non-midline cleft of the upper lip, Tooth agenesis |
ORPHA:1074 |
| Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Occipital encephalocele, Finger syndactyly, Congenital diaphragmati... |
ORPHA:887 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... |
ORPHA:3268 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
| Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Supernumerary vertebrae, Short thumb, Radioulnar synostosis, Syndacty... |
OMIM:263750 |
| Braddock Syndrome |
|
Unilateral renal agenesis, Preaxial hand polydactyly, Missing ribs, Short neck, Hemivertebrae, Pe... |
ORPHA:52047 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Platyspondyly, Narrow chest, Rhizomelia, Abnormal clavicle morphology, Abnormal metaphysis morpho... |
ORPHA:93267 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the ureter, Talipes equinovarus, Anal atresia, Paten... |
ORPHA:2970 |
| 3Q29 Microdeletion Syndrome |
|
Pectus carinatum, Gastroesophageal reflux, Horseshoe kidney, Clinodactyly of the 5th finger, Six ... |
ORPHA:65286 |
| Melnick-Needles Syndrome |
|
Anisospondyly, Narrow chest, Short distal phalanx of finger, Short thorax, Delayed cranial suture... |
ORPHA:2484 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Renal agenesis, Butterfly vertebrae, Submucous cleft hard palate, Spre... |
OMIM:619227 |
| Cloacal Exstrophy |
|
Ureterocele, Abnormal tibia morphology, Renal hypoplasia/aplasia, Talipes equinovarus, Abnormal f... |
ORPHA:93929 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal shoulder morphology, Renal hypoplasia/aplasia, Cerv... |
ORPHA:2345 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Vertebral segmentation defect, Short neck, Abnormal rib morphology, Ectopic kidne... |
ORPHA:2578 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Radioulnar synostosis, Elbow ankylosis, Abnormality of the upper urina... |
ORPHA:3266 |
| Emanuel Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation, Abnormality of the ankle... |
ORPHA:96170 |
| Macular Degeneration, Age-Related, 1 |
|
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... |
OMIM:603075 |
| Boomerang Dysplasia |
|
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... |
ORPHA:1263 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
| Emanuel Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation, Kyphosis, Gastroesophage... |
OMIM:609029 |
| Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis, Scoliosis, Cleft palate |
OMIM:619504 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Promin... |
OMIM:618494 |
| Late-Onset Retinal Degeneration |
|
Choroidal neovascularization, Retinopathy, Retinal degeneration, Chorioretinal degeneration, Sub-... |
OMIM:605670 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Short neck, Hypospadias, Sacral dimple |
ORPHA:2487 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation |
ORPHA:1852 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Tapered finge... |
OMIM:311895 |
| Miller-Dieker Syndrome |
|
Nephropathy, Clinodactyly of the 5th finger, Sacral dimple, Omphalocele |
ORPHA:531 |
| Houge-Janssens Syndrome 2 |
|
Unilateral renal agenesis, Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Pect... |
OMIM:616362 |
| Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Short neck, Anterior ... |
OMIM:228520 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Unilateral renal agenesis, Absence of the sacrum, Neonatal death, ... |
OMIM:615709 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Death ... |
ORPHA:1354 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... |
ORPHA:59181 |
| Oeis Complex |
|
Talipes equinovarus, Duplicated collecting system, Anal atresia, Rectovaginal fistula, Vesicovagi... |
OMIM:258040 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Umbilical hernia, Camp... |
ORPHA:2311 |
| Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Reticular pigmentary degenerat... |
ORPHA:75376 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Long penis, Scoliosis, Preaxial foot polydactyly, Inguinal herni... |
ORPHA:1988 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal hypoplasia, Hydroureter, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Uret... |
OMIM:143400 |
| Distal Duplication 15Q |
|
Camptodactyly of finger, Arachnodactyly, Short neck, Anal atresia, Omphalocele, Pectus excavatum,... |
ORPHA:1707 |
| Juberg-Hayward Syndrome |
|
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Anteriorly placed anus, Horseshoe kid... |
ORPHA:2319 |
| Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger, Cryptorchidism, Pectu... |
ORPHA:376 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinopathy, Retinal atrophy, Bone ... |
OMIM:180210 |
| Sprengel Deformity |
|
Abnormal shoulder morphology, Cleft palate |
ORPHA:3181 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular fossae, Toe syndac... |
OMIM:201000 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae |
OMIM:608681 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Mosaic Trisomy 14 |
|
Narrow chest, Camptodactyly of finger, High palate, Short neck, Ectopic anus, Abnormal rib morpho... |
ORPHA:1703 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... |
OMIM:609813 |
| Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Branchial cyst, Glomerulomegaly, Bilatera... |
ORPHA:2260 |
| Fibrochondrogenesis |
|
Narrow chest, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Micromelia, Camptodact... |
ORPHA:2021 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... |
OMIM:601346 |
| Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormality of the ureter, Short neck, Hyperlordosis, Abnormal rib ... |
ORPHA:2522 |
| Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver... |
ORPHA:157798 |
| Congenital Laryngomalacia |
|
Non-midline cleft of the upper lip, Cleft palate |
ORPHA:2373 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Neonatal death, Short neck, Short foot, Patent ductus arteriosus, Short toe... |
OMIM:269860 |
| Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
| Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
| Dubin-Johnson Syndrome |
|
Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome... |
ORPHA:234 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Intestinal malrotation, Tibial bowing, Lower limb undergrowth, Bowing of the long ... |
ORPHA:3035 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Hypospadias, Gastroesophageal reflux, Intestinal malrotation, Overlapping toe, Overlapping finger... |
OMIM:618316 |
| Arthrogryposis, Distal, Type 1C |
|
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... |
OMIM:619110 |
| Pseudotrisomy 13 Syndrome |
|
Renal hypoplasia, Postaxial foot polydactyly, Renal agenesis, 11 pairs of ribs, Median cleft pala... |
OMIM:264480 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Prenatal death, Neonatal death, Short neck, Camptodactyly, High palate, Rocker ... |
OMIM:618393 |
| Melnick-Needles Syndrome |
|
Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Anterior concavity of thoracic... |
OMIM:309350 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... |
OMIM:617405 |
| Chromosome 10Q26 Deletion Syndrome |
|
2-3 toe cutaneous syndactyly, Congenital hip dislocation, Toe syndactyly, Prominent fingertip pad... |
OMIM:609625 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Encephalocele,... |
ORPHA:90652 |
| C Syndrome |
|
Ulnar deviation of finger, Fused sternal ossification centers, Toe syndactyly, Postaxial foot pol... |
OMIM:211750 |
| Pierre Robin Syndrome And Oligodactyly |
|
Finger aplasia, Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
| Multiple Synostoses Syndrome 3 |
|
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... |
OMIM:612961 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Overlapping toe, Talipes equinovarus, Short neck, Sprengel anomaly, Beaking of vertebral bodies, ... |
OMIM:213980 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Delayed cranial suture cl... |
OMIM:175700 |
| Metatropic Dysplasia |
|
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metap... |
ORPHA:2635 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Congenital diaphragmatic hernia,... |
ORPHA:2092 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... |
OMIM:184400 |
| Shashi-Pena Syndrome |
|
Unilateral renal agenesis, Kyphosis, Cervical C2/C3 vertebral fusion, Short metacarpal, Scoliosis... |
OMIM:617190 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Unilateral renal agenesis, Sandal gap, Camptodactyly of finger, Bicoronal synostosis, Vesicourete... |
OMIM:619951 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Hypoplastic scapulae, Congenital hip dislocation, Finger syndactyly, U... |
OMIM:308050 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Epiretinal mem... |
ORPHA:179 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
| Autosomal Recessive Primary Microcephaly |
|
Unilateral renal agenesis, Vesicoureteral reflux |
ORPHA:2512 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Short thorax, Abnormal sacrum morphology, Vertebral segmentation defect, Missing ribs, Short neck... |
ORPHA:1797 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Toe syndactyly, Abnormal rib morphology, Camptodactyly of finger, P... |
ORPHA:261344 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sc... |
OMIM:609052 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... |
OMIM:617666 |
| Triploidy |
|
Narrow chest, Finger syndactyly, Intestinal malrotation, Short neck, Omphalocele, Macroglossia, M... |
ORPHA:3376 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Diaphyseal... |
ORPHA:2790 |
| Otopalatodigital Syndrome, Type I |
|
Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Hip dislocation... |
OMIM:311300 |
| Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Joint contracture of the hand, Fibular aplasia, Arachnodactyly, Tal... |
OMIM:300373 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme... |
ORPHA:66637 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal vertebral morphology, Hypoplastic scapulae, Dilatation of the renal pelvis, Clinodactyly... |
ORPHA:95699 |
| Fryns Syndrome |
|
Short distal phalanx of finger, Narrow chest, Multicystic kidney dysplasia, Gastroesophageal refl... |
ORPHA:2059 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Bell-shaped thorax, Encephalocele, Anal atresia, Flat acetabular roof, Patent ductus... |
OMIM:616300 |
| Spondylocostal Dysostosis 5 |
|
Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib... |
OMIM:122600 |
| Feingold Syndrome |
|
Deviation of the 2nd finger, Toe syndactyly, Annular pancreas, Abnormality of the spleen, Hallux ... |
ORPHA:1305 |
| Hypersulfaturia |
|
Increased urinary sulfate, Costochondral pain, Nephrolithiasis |
OMIM:620372 |
| Kyphomelic Dysplasia |
|
Narrow chest, Abnormal form of the vertebral bodies, Micromelia, Undulate ribs, Missing ribs, Bow... |
ORPHA:1801 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Megarectum, Postaxial foot polydactyly, Arthrogryposis multiplex congenita, Overlapping fingers, ... |
OMIM:301056 |
| Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Congenital diaphrag... |
ORPHA:373 |
| Pentalogy Of Cantrell |
|
Aplasia/Hypoplasia of the radius, Renal agenesis, Abnormal sternum morphology, Abnormal tibia mor... |
ORPHA:1335 |
| Jeune Syndrome |
|
Narrow chest, Toe syndactyly, Abnormal clavicle morphology, Short thorax, Abnormal sternum morpho... |
ORPHA:474 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short r... |
OMIM:615503 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... |
OMIM:617641 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Splenomegaly, Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Coronal craniosynostosis, Joint contracture of the hand, Protein-losing enteropathy, Small hand, ... |
OMIM:235510 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis, Delayed cranial suture closure, Os odontoideum, Hernia, Wormian bones,... |
OMIM:616603 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Unilateral renal agenesis, Preaxial polydactyly, Crossed fused renal ectopia, Overlapping toe, Ov... |
OMIM:618142 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad thumb, Exaggerated median tongue furrow, Congenital diaphragmatic hernia, Talipes equinovar... |
OMIM:312870 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia |
ORPHA:2016 |
| Retinitis Pigmentosa 50 |
|
Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Mosaic Trisomy 1 |
|
Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Arachnodactyly, 2... |
ORPHA:1692 |
| Waardenburg Syndrome, Type 1 |
|
Supernumerary vertebrae, Myelomeningocele, Supernumerary ribs, Sprengel anomaly, Spina bifida |
OMIM:193500 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Abnormal rib morphology, Pectus excavatum, Cleft palate,... |
OMIM:602196 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
| Caudal Regression Syndrome |
|
Renal agenesis, Aplasia/Hypoplasia of the sacrum, Abnormality of the ureter, Renal insufficiency,... |
ORPHA:3027 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Fryns Syndrome |
|
Thin ribs, Joint contracture of the hand, Short neck, Anal atresia, Hypospadias, Duodenal atresia... |
OMIM:229850 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Chromosome 9P Deletion Syndrome |
|
High, narrow palate, Narrow palate, Sandal gap, Inguinal hernia, Clinodactyly of the 5th toe, Sho... |
OMIM:158170 |
| Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Metatropic Dysplasia |
|
Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat acetabular roof, Dumbbell... |
OMIM:156530 |
| Kagami-Ogata Syndrome |
|
Thin ribs, Bell-shaped thorax, Diastasis recti, Inguinal hernia, Kyphoscoliosis, Limb undergrowth... |
OMIM:608149 |
| Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Clubbing of toes, Micromelia, Abnormal thorax morphology, Death in ... |
ORPHA:1318 |
| Perlman Syndrome |
|
Hepatomegaly, High, narrow palate, Cryptorchidism, Abnormal pancreas morphology |
ORPHA:2849 |
| Takenouchi-Kosaki Syndrome |
|
Unilateral renal agenesis, Clinodactyly, Abnormal sternum morphology, Overlapping toe, Inguinal h... |
OMIM:616737 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Lumba... |
OMIM:222600 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis... |
OMIM:615710 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Cryptorchidism, Postaxial ... |
OMIM:615633 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... |
OMIM:609913 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Ulnar deviation of the hand, Omphalocele, Metaphysea... |
OMIM:263210 |
| Acrofacial Dysostosis 1, Nager Type |
|
Toe syndactyly, Velopharyngeal insufficiency, Clinodactyly, Overlapping toe, Congenital diaphragm... |
OMIM:154400 |
| Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Unilateral renal agenesis, Fractured rib, Narrow chest, Gastroesophageal reflux, Metap... |
OMIM:618188 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Unilateral renal agenesis, Abnormal form of the vertebral bodies, Horseshoe kidney, Vertebral seg... |
ORPHA:3109 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert... |
ORPHA:2234 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Anal stenosis, Myelomeningocele, Abnormal odontoid process morphology, Bell-shap... |
OMIM:613686 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate, Omphalocele, Scoliosis, Short ... |
OMIM:601357 |
| Burn-Mckeown Syndrome |
|
Bifid uvula, Unilateral renal agenesis, Renal hypoplasia, Inguinal hernia, 2-3 toe syndactyly, Cl... |
OMIM:608572 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Atypical scarring of skin, Joint dislocation, Umbilical hernia, Inguinal hernia, Nephroblastoma, ... |
OMIM:617174 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Macroglossia, Thoracic hypoplasia, Umbilical hernia, Overlapping toe, Large placenta, Diastasis r... |
ORPHA:254528 |
| Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Anteriorly placed anus, Ethmoidal encephalocele, Abnormal rib morp... |
ORPHA:280195 |
| Opitz Gbbb Syndrome |
|
Abnormality of the urinary system, Umbilical hernia, Ankyloglossia, Vesicoureteral reflux, Congen... |
ORPHA:2745 |
| Mucopolysaccharidosis, Type Iva |
|
Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior beaking of lumbar vertebrae... |
OMIM:253000 |
| Vacterl Association With Hydrocephalus |
|
Abnormal vertebral morphology, Renal hypoplasia, Absent thumb, Abnormality of the vertebral colum... |
OMIM:276950 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis, Hernia, Talipes equinovarus, 2-3 toe syndactyly, Brachydactyly, Clinod... |
ORPHA:3306 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... |
OMIM:277300 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Abdominal wall defect, Abnormal stomach morphology, Renal insufficienc... |
ORPHA:281090 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Hand clenching, Rocker bottom foot, Abnormal anterior horn cell morphology, Neonatal death, Talip... |
OMIM:611890 |
| Even-Plus Syndrome |
|
Renal hypoplasia, Recurrent urinary tract infections, Dysplasia of the femoral head, Vesicoureter... |
OMIM:616854 |
| Robin Sequence-Oligodactyly Syndrome |
|
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... |
ORPHA:3104 |
| Lethal Congenital Contracture Syndrome 10 |
|
Narrow palate, Narrow chest, Broad ribs, Overlapping fingers, Femoral bowing, Thoracic scoliosis,... |
OMIM:617022 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Unilateral renal agenesis, Macroglossia, Broad distal phalanx of finger, Hydroureter, Bilateral r... |
OMIM:619194 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Unilateral renal agenesis, Hypospadias, Ankle flexion contracture, Kyphosis, Short toe, Duodenal ... |
ORPHA:464311 |
| Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... |
OMIM:617805 |
| Fetal Encasement Syndrome |
|
Upper limb undergrowth, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Con... |
OMIM:613630 |
| Cenani-Lenz Syndrome |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda... |
ORPHA:3258 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Joint dislocation, Abnormal clavicle morphology, Elbow dislocation, Ca... |
ORPHA:628 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Unilateral renal agenesis, Bifid distal phalanx of toe, Cutaneous finger syndactyly, Limited elbo... |
OMIM:618419 |
| Fanconi Anemia, Complementation Group O |
|
Absent thumb, Short thumb, Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydr... |
OMIM:613390 |
| Zttk Syndrome |
|
Unilateral renal agenesis, Bifid uvula, Small hand, Kyphosis, Cervical ribs, Horseshoe kidney, Su... |
OMIM:617140 |
| Auriculocondylar Syndrome 2B |
|
Abnormality of the cervical spine, Long penis, Omphalocele |
OMIM:620458 |
| Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... |
OMIM:304120 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Dilatation of the renal pelvis, Hydroureter, Duodenal atres... |
OMIM:265380 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Toe syndactyly, Arachnodactyly, Hypospadias, Duodenal atresia, Patent ductus arteriosus, Gastroes... |
ORPHA:464306 |
| Retinitis Pigmentosa 13 |
|
Attenuation of retinal blood vessels, Asteroid hyalosis, Cystoid macular edema, Retinal degenerat... |
OMIM:600059 |
| Bresek Syndrome |
|
Renal hypoplasia, Hypoplasia of the bladder, Vesicoureteral reflux, Neonatal death, Aganglionic m... |
ORPHA:85284 |
| Schisis Association |
|
Renal agenesis, Micromelia, Congenital diaphragmatic hernia, Encephalocele, Tracheoesophageal fis... |
ORPHA:63862 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Broad clavicles, Carpal osteolysis, Abnormal form of the vertebral bodies, Pterygium, Abnormal ha... |
ORPHA:371428 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal palate morphology, Abnormal r... |
ORPHA:1506 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis, Pectus excavatum |
OMIM:244200 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Abnormality of t... |
ORPHA:1836 |
| Iniencephaly |
|
Rhizomelia, Spinal dysraphism, Arthrogryposis multiplex congenita, Renal agenesis, Absent vertebr... |
ORPHA:63259 |
| Trisomy 13 |
|
High, narrow palate, Narrow chest, Kyphosis, Ectrodactyly, Abnormality of the ureter, Displacemen... |
ORPHA:3378 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... |
OMIM:269250 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate, Death in infancy, Omphalocele |
OMIM:258320 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Duplication involving bones of the feet, Scoliosis, Optic nerve dysplasia |
OMIM:246000 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2838 |
| X-Linked Intellectual Disability, Abidi Type |
|
Decreased testicular size, Pectus excavatum, Non-midline cleft of the upper lip, Cleft palate |
ORPHA:85273 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Spinal canal stenosis, Long hallux, Cone-shaped epiphyses of the phala... |
OMIM:101800 |
| Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Pectus carinatum, Long philtrum, Abnormal metacarpal morphology, Osteoarthritis, Pectus excavatum... |
ORPHA:166100 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Pancreati... |
OMIM:167800 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Hyperechoge... |
OMIM:614576 |
| Leopard Syndrome 1 |
|
Unilateral renal agenesis, Pectus carinatum, Limited elbow movement, Missing ribs, Cubitus valgus... |
OMIM:151100 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... |
OMIM:137920 |
| Constricting Bands, Congenital |
|
Abnormal rib cage morphology, Encephalocele, Talipes equinovarus, Hand polydactyly, Cleft palate,... |
OMIM:217100 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplastic iliac wing, Foot polydactyly, Jaundice, Cone-shaped epiphyses of the phalanges of the... |
OMIM:208500 |
| Fanconi Anemia, Complementation Group N |
|
Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Nephroblastoma, Short nec... |
OMIM:610832 |
| Reynolds Syndrome |
|
Gastroesophageal reflux, Xerostomia, Abnormal gastric mucosa morphology, Cirrhosis, Arthritis, He... |
ORPHA:779 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Mesomelia, Broad thumb, Kyphosis, Clinodactyly, Anteriorly placed anus, Vesicoureteral reflux, Sh... |
OMIM:616894 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... |
OMIM:611555 |
| 7Q11.23 Microduplication Syndrome |
|
Unilateral renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Inguinal hernia, Hydrone... |
ORPHA:96121 |
| 3Mc Syndrome 1 |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Short 5th finger, Caudal appendage, Clinod... |
OMIM:257920 |
| Osteogenesis Imperfecta, Type X |
|
Thin ribs, Genu valgum, Fibular bowing, Death in childhood, Bowing of the long bones, Thoracic hy... |
OMIM:613848 |
| Atelosteogenesis Type I |
|
Narrow chest, Joint dislocation, Thoracic hypoplasia, Short femur, Abnormal ossification involvin... |
ORPHA:1190 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal mesentery morphology, Abnormality of the spleen, Tracheoesophageal fistula, Intestinal a... |
ORPHA:93941 |
| Van Der Woude Syndrome 1 |
|
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate |
OMIM:119300 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Hydranencephaly, Short distal phalanx of finger, Cleft palate |
OMIM:601355 |
| Developmental And Epileptic Encephalopathy 89 |
|
Narrow chest, Death in childhood, Neonatal death, Talipes equinovarus, Limb undergrowth, Omphaloc... |
OMIM:619124 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Esophageal Atresia |
|
Abnormal vertebral morphology, Barrett esophagus, Gastrointestinal carcinoma, Abnormality of the ... |
ORPHA:1199 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
2-3 toe cutaneous syndactyly, Renal hypoplasia, Microphallus, Umbilical hernia, Vesicoureteral re... |
OMIM:618454 |
| Spondylometaphyseal Dysplasia, Axial |
|
Platyspondyly, Narrow chest, Rhizomelia, Thoracic hypoplasia, Short femoral neck, Proximal femora... |
OMIM:602271 |
| Williams-Beuren Region Duplication Syndrome |
|
Hydronephrosis, Unilateral renal agenesis, High palate, Patent ductus arteriosus |
OMIM:609757 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndactyly, Clinodactyly of the 5th finger, ... |
ORPHA:3082 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Anterior rib cuppi... |
OMIM:617941 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Hydronephrosis, Anal atresia, Abnormal rib morphology, Abnormal localiz... |
ORPHA:195 |
| Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Congenital hip dislocation, Renal malrotation, Branchial fistula, Bran... |
OMIM:113650 |
| Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal form of the vertebral bodies, Sandal gap, Abnormal dental enamel morphology, Sprengel an... |
ORPHA:2180 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Thoracic hypoplasia, Short femoral neck, Knee dislocation, Genu valgum, Inguinal hernia, Hip cont... |
OMIM:618363 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... |
ORPHA:2141 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Hydromyelia, Hip dislocation, Renal agen... |
OMIM:308205 |
| Stuve-Wiedemann Syndrome 2 |
|
Thoracic hypoplasia, Neonatal death, Bowing of the long bones, Death in adolescence, Dysphagia, S... |
OMIM:619751 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... |
ORPHA:543 |
| Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Pectus carinatum, Joint dislocation, Short thorax, Spinal canal stenosis, Abnormal... |
ORPHA:582 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Pectus carinatum, Metaphyseal irregularity, Hypoplasia of the odontoid process, Cl... |
OMIM:184250 |
| Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias |
OMIM:600057 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor... |
ORPHA:2494 |
| C Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Joint dislocation, Micromelia, Horseshoe kidney, Cl... |
ORPHA:1308 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Absence of intrinsic factor |
OMIM:243320 |
| Thoracolaryngopelvic Dysplasia |
|
Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions, Scoliosis, Ir... |
OMIM:187760 |
| Radio-Renal Syndrome |
|
High, narrow palate, Multicystic kidney dysplasia, Renal agenesis, Abnormal form of the vertebral... |
ORPHA:3015 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Long hallux, Short neck, Duodena... |
ORPHA:2308 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Neonatal death... |
OMIM:314390 |
| Diaphanospondylodysostosis |
|
Unossified sacrum, Thoracic hypoplasia, Delayed vertebral ossification, Nephroblastomatosis, Hors... |
OMIM:608022 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Micromelia, Abnormal joint morpholog... |
ORPHA:93351 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Absent thumb, Hypoplastic sacrum, Short neck, Trache... |
OMIM:614083 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Velopharyngeal insufficiency, Recurrent urinary tract infections, Hors... |
ORPHA:363444 |
| Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Abnormality of t... |
ORPHA:2869 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Duodenal stenosis, Cryptorchidism, Abnormal spleen morphology, Aplasia/Hypoplas... |
ORPHA:2470 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Lumbar hyperlordosis, Clinodactyly of the 5th finger, Inguinal hernia, Brachydactyly, Genu varum,... |
OMIM:619451 |
| Dubowitz Syndrome |
|
Small hand, Toe syndactyly, Broad thumb, Delayed cranial suture closure, Aplasia/Hypoplasia of th... |
ORPHA:235 |
| Trisomy 20P |
|
Finger syndactyly, Abnormality of the ureter, Hernia, Short neck, Abnormality of the kidney, Hypo... |
ORPHA:261318 |
| Acrorenal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... |
OMIM:200980 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... |
OMIM:614527 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormal femur morphology, Lower limb undergrowth, Hyperlordosis, Anal atresia, Scoliosis |
ORPHA:2310 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Talipes equinovarus, Micropenis, Anal atresia, Polycystic kidney dysplasia, Renal dysplasia, Thor... |
OMIM:613091 |
| Non-Syndromic Posterior Hypospadias |
|
Urethral diverticulum, Congenital diaphragmatic hernia, Displacement of the urethral meatus, Esop... |
ORPHA:95706 |
| Codas Syndrome |
|
Congenital hip dislocation, Hypoplasia of the odontoid process, Rectovaginal fistula, Gastroesoph... |
OMIM:600373 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Multicystic kidney dysplasia, Gastroesophageal reflux, Congenital ... |
ORPHA:261197 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Broad middle phalanx of finger, Unilateral renal agenesis, Short distal phalanx of the thumb, Gas... |
ORPHA:221139 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
| Acrocephalopolydactylous Dysplasia |
|
Micromelia, Hypoplastic colon, Short neck, Omphalocele, Postaxial hand polydactyly, Craniosynosto... |
OMIM:200995 |
| Cenani-Lenz Syndactyly Syndrome |
|
Renal hypoplasia, Renal agenesis, Broad hallux, Radioulnar synostosis, Enamel hypoplasia, Hypopla... |
OMIM:212780 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... |
OMIM:305390 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Pectus carinatum, Multiple rib fractures, Wormian bones, Pectus excavatum, Scolios... |
OMIM:259440 |
| Marshall-Smith Syndrome |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Death in childhood, Bullet-shaped m... |
OMIM:602535 |
| 3C Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Finger syndactyly, Intestinal malrotation, Inguinal... |
ORPHA:7 |
| Acropectorovertebral Dysplasia |
|
Abnormal vertebral morphology, Toe syndactyly, Spina bifida occulta at L5, Synostosis of carpal b... |
OMIM:102510 |
| Isolated Hemihyperplasia |
|
Asymmetry of the thorax, Myelomeningocele, Inguinal hernia, Nephroblastoma, Scoliosis |
ORPHA:2128 |
| Fraser Syndrome |
|
Toe syndactyly, Finger syndactyly, Encephalocele, Renal hypoplasia/aplasia, High palate, Anal atr... |
ORPHA:2052 |
| Campomelia, Cumming Type |
|
Bowing of the long bones, Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
| Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Inguinal hernia, Polydactyly, Abnormality of the abdominal wall, C... |
OMIM:247200 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal metacarpal morphology, Flat acetabular roof, Thoracic hypoplasia, Aplasia/Hypoplasia of ... |
ORPHA:168549 |
| Kagami-Ogata Syndrome |
|
Thoracic hypoplasia, Bell-shaped thorax, Large placenta, Diastasis recti, Inguinal hernia, Kyphos... |
ORPHA:254519 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... |
OMIM:193235 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Broad hallux, Clinodactyly of the 5th finger, Inguinal hernia, Postaxi... |
ORPHA:457284 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... |
ORPHA:64743 |
| Acropectorovertebral Dysplasia |
|
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... |
ORPHA:957 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... |
OMIM:271650 |
| Poland Syndrome |
|
Small hand, Ureterocele, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Encephalocele, Con... |
ORPHA:2911 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Unilateral renal agenesis, Toe syndactyly, Branchial fistula, Camptodactyly of finger, Camptodact... |
ORPHA:261337 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Congenital diaphragmatic ... |
ORPHA:1120 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
| Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... |
ORPHA:411709 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Pectus carinatum, Microglossia, Narrow chest, Polysyndactyly of hallux, Postaxi... |
OMIM:263520 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
| Donnai-Barrow Syndrome |
|
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Proteinuria, Omphalocele |
ORPHA:2143 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... |
ORPHA:617 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Ankle flexion contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contract... |
ORPHA:1145 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Unilateral renal agenesis, Joint subluxation, Atrophic scars, Vesicoureteral reflux, Increased co... |
OMIM:606408 |
| Bladder Exstrophy |
|
Recurrent urinary tract infections, Umbilical hernia, Abnormality of the ureter, Intestinal malro... |
ORPHA:93930 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Narrow chest, Abnormal pelvic girdle bone morphology, Joint dis... |
ORPHA:2097 |
| Vater/Vacterl Association |
|
Abnormal vertebral morphology, Occipital encephalocele, Radioulnar synostosis, Absent radius, Ana... |
OMIM:192350 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Platyspondyly, Narrow chest, Micromelia, Flared metaphysis, Sho... |
OMIM:187601 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Renal hypoplasia, Narrow chest, Micromelia, Preaxial hand polydactyly, Absent or minimally ossifi... |
ORPHA:93271 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Brachydactyly, Anal atresia, Abnormal sacrum morphology, Scoliosis, Short... |
ORPHA:1436 |
| Familial Melanoma |
|
Neoplasm of the stomach, Neoplasm of the pancreas, Abnormality of the lymphatic system |
ORPHA:618 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Thoracic hypoplasia, Micromelia, Horizontal ribs, Short ribs, Postaxial polydactyly... |
OMIM:617895 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Horseshoe kidney, Hemivertebrae, Anal atresia, Sacral dimple |
OMIM:619318 |
| Cooper-Jabs Syndrome |
|
Anteriorly placed anus, Camptodactyly of finger, Umbilical hernia, Congenital diaphragmatic herni... |
ORPHA:1488 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Platyspondyly, Enlarged epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Distal ulna... |
OMIM:609616 |
| Frontometaphyseal Dysplasia 1 |
|
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... |
OMIM:305620 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Ritscher-Schinzel Syndrome 1 |
|
Hydronephrosis, Missing ribs, Hemivertebrae, Anal atresia, Hypospadias, Cleft palate, Syndactyly |
OMIM:220210 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Platyspondyly, Fractured radius, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diamet... |
OMIM:616897 |
| Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... |
ORPHA:263665 |
| Mucopolysaccharidosis, Type X |
|
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... |
OMIM:619698 |
| Mucopolysaccharidosis, Type Iiia |
|
Umbilical hernia, Heparan sulfate excretion in urine, Inguinal hernia, Ovoid thoracolumbar verteb... |
OMIM:252900 |
| Trisomy 18 |
|
Narrow palate, Deviation of finger, Camptodactyly of finger, Congenital diaphragmatic hernia, Hyd... |
ORPHA:3380 |
| Mucopolysaccharidosis, Type Ivb |
|
Hypoplasia of the odontoid process, Genu valgum, Bilateral talipes equinovarus, Ovoid vertebral b... |
OMIM:253010 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormal diaphysis morphology, Camptodactyly of finger, Abnormality of the ureter... |
ORPHA:3409 |
| Mosaic Trisomy 8 |
|
Narrow chest, Camptodactyly of finger, Vesicoureteral reflux, Patellar aplasia, Vertebral segment... |
ORPHA:96061 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Neonatal death, 2-3 toe syndactyly, Renal c... |
OMIM:236500 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Unilateral renal agenesis, Clinodactyly, Abnormal sternum morphology, Overlapping toe, Inguinal h... |
ORPHA:487796 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Platyspondyly, Thin ribs, Multiple joint dislocation, Knee dislocation, Narrow vertebral interped... |
OMIM:618395 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... |
ORPHA:96334 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
| Verheij Syndrome |
|
Short 5th finger, Renal hypoplasia, Renal agenesis, Branchial cyst, Clinodactyly, Renal cyst, Sho... |
OMIM:615583 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Umbilical hernia, Inguinal hernia, Nephroblastoma, Pectus excavatum, Enlarged kidney, S... |
OMIM:618272 |
| Acalvaria |
|
Cleft palate, Spina bifida, Omphalocele, Postaxial hand polydactyly |
ORPHA:945 |
| Achondrogenesis, Type Ib |
|
Narrow chest, Micromelia, Umbilical hernia, Absent or minimally ossified vertebral bodies, Inguin... |
OMIM:600972 |
| Meckel Syndrome, Type 2 |
|
Intestinal malrotation, Encephalocele, Polydactyly, Bowing of the long bones, Renal cyst, Omphalo... |
OMIM:603194 |
| Coach Syndrome 1 |
|
Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re... |
OMIM:216360 |
| Beaulieu-Boycott-Innes Syndrome |
|
Unilateral renal agenesis, Velopharyngeal insufficiency, Recurrent urinary tract infections, Hors... |
OMIM:613680 |
| Achondrogenesis Type 1B |
|
Narrow chest, Micromelia, Abnormal rib morphology, Umbilical hernia, Talipes equinovarus, Short n... |
ORPHA:93298 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Short neck, Short hallux, Abnormality of the kidney, Dysphagia, Patent ductus art... |
ORPHA:508488 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Intestinal pseudo-obstruction, Volvulus, Megacystis, ... |
OMIM:619350 |
| Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Congenital diaphragmatic ... |
ORPHA:958 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Renal hypoplasia/aplasia, Hydronephrosis, Vertebral segmentation defect, Aplas... |
ORPHA:1926 |
| Becker Nevus Syndrome |
|
Pectus carinatum, Micromelia, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Spina bi... |
ORPHA:64755 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... |
ORPHA:210122 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Midclavicular aplasia, Congenital diaphragmatic hernia, Foot polydactyly, Short m... |
OMIM:305600 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| Alagille Syndrome |
|
Short distal phalanx of finger, Nephrotic syndrome, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:52 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Unilateral renal agenesis |
OMIM:618504 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Talipes equinovarus, Short neck, Inferiorly positioned umbilicus, Absent ra... |
OMIM:263650 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the tongue, Missing ribs, Arachnodac... |
ORPHA:2759 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Retinal dots, Optically empty vitreous |
OMIM:193230 |
| 3M Syndrome |
|
Thin ribs, Congenital hip dislocation, Rocker bottom foot, Micromelia, Abnormal dental enamel mor... |
ORPHA:2616 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal cord compression, Spinal instability |
OMIM:251250 |
| Hypophosphatasia, Infantile |
|
Platyspondyly, Unossified vertebral bodies, Nephrocalcinosis, Rachitic rosary, Metaphyseal cuppin... |
OMIM:241500 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Ankle flexio... |
ORPHA:468631 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs |
OMIM:604919 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Dilatation of the renal pelvis, Short 5th toe, Cleft soft palate, Chordee, Osteochondrosis, Hypos... |
ORPHA:268261 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Ovoid vertebr... |
OMIM:151210 |
| Kniest Dysplasia |
|
Enlarged metaphyses, Hypoplasia of the odontoid process, Abnormal joint morphology, Bell-shaped t... |
ORPHA:485 |
| ERI1-related disease |
|
Velopharyngeal insufficiency, Patellar dislocation, Finger joint hypermobility, High palate, Disl... |
OMIM:608739 |
| Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Renal hypoplasia/aplasia, Abnormal morphology of ulna, Hand pol... |
ORPHA:2167 |
| Penoscrotal Transposition |
|
Penoscrotal transposition, Pectus carinatum, Abnormality of the urethra, Renal agenesis, Abnormal... |
ORPHA:2842 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Unilateral renal agenesis, Renal hypoplasia, Pectus carinatum, Umbilical hernia, Vesicoureteral r... |
OMIM:620654 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Cutaneous finger syndactyly, Median cleft upper lip, 2-3 toe syndactyly, Split ha... |
DECIPHER:46 |
| Hoxha-Aliu Syndrome |
|
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Patellar dislocation, Hi... |
OMIM:620662 |
| Poland Syndrome |
|
Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Unilateral brac... |
OMIM:173800 |
| Recombinant 8 Syndrome |
|
Abnormal sternum morphology, Camptodactyly of finger, Clinodactyly of the 5th finger, Patellar ap... |
ORPHA:96167 |
| Donnai-Barrow Syndrome |
|
Umbilical hernia, Intestinal malrotation, Congenital diaphragmatic hernia, Proteinuria, Short ste... |
OMIM:222448 |
| Mucopolysaccharidosis Type 6 |
|
Broad ribs, Genu valgum, Hernia, Short neck, Mucopolysacchariduria, Macroglossia, Abnormal metaph... |
ORPHA:583 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Talipes equinovarus, Aplasia/hypopl... |
ORPHA:2839 |
| Spinal Arteriovenous Metameric Syndrome |
|
Abnormality of the vertebral column, Cutaneous angiolipomas, Urinary bladder sphincter dysfunctio... |
ORPHA:53721 |
| Dextrocardia |
|
Congenital hip dislocation, Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypop... |
ORPHA:1666 |
| Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Overlapping toe, Duplicated collecting system, Hypospadias, Hip dislo... |
OMIM:270400 |
| Chondrodysplasia, Blomstrand Type |
|
Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Advanced tarsal ossif... |
OMIM:215045 |
| Seckel Syndrome 8 |
|
Ectopic kidney, Spinal cord compression, Kyphoscoliosis |
OMIM:615807 |
| Split-Hand/Foot Malformation 1 |
|
Finger aplasia, Clinodactyly, Broad hallux, Ectrodactyly, Foot oligodactyly, Split foot, Triphala... |
OMIM:183600 |
| Exstrophy-Epispadias Complex |
|
Abnormal joint morphology, Abnormality of the ureter, Abnormality of the abdominal wall, Abnormal... |
ORPHA:322 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip |
OMIM:137215 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... |
ORPHA:672 |
| Holoprosencephaly |
|
Abnormality of the urinary system, Spinal dysraphism, Abnormal form of the vertebral bodies, Gast... |
ORPHA:2162 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Lumbar hemivertebrae, Neonatal death, Missing ribs, Talipes equinovarus, Short neck, Tracheoesoph... |
OMIM:619859 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Small hand, Shallow acetabular fossae, Talipes equinovarus, Short neck, High palate, Short foot, ... |
OMIM:611209 |
| Christian Syndrome |
|
Thoracic hemivertebrae, Prominent metopic ridge, Anal atresia, Scoliosis, Short middle phalanx of... |
OMIM:309620 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Tracheoesophageal fistula, Hyperlordosis, Abnormal rib morphology, Clinodactyly... |
ORPHA:3068 |
| Okamoto Syndrome |
|
Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, Intestinal malrotation,... |
ORPHA:2729 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Congenital diaphragmatic hernia, Ara... |
OMIM:265000 |
| Diamond-Blackfan Anemia 11 |
|
Finger aplasia, Unilateral renal agenesis, Absent thumb, Unilateral radial aplasia, Bilateral cle... |
OMIM:614900 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Wormian bones, Macroglossia, Congenital hip dislocation, Omphalocele |
OMIM:614450 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Radial he... |
OMIM:146510 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Fibular aplasia, Aplasia/Hypoplasia of the patella, Aplasia/Hypop... |
ORPHA:3320 |
| Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... |
ORPHA:1876 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Foot polydactyly, Vertebral segmentation defect, Missing ribs, Renal hypoplasia/aplasia, Aplasia/... |
ORPHA:3186 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Abnormal gastrointestinal tract morphology, High palate, Symphalangism affecti... |
ORPHA:2990 |
| Autosomal Dominant Cutis Laxa |
|
Genu recurvatum, Unilateral renal agenesis, Small bowel diverticula, Delayed cranial suture closu... |
ORPHA:90348 |
| Ruvalcaba Syndrome |
|
Pectus carinatum, Narrow chest, Small hand, Synostosis of carpal bones, Micromelia, Abnormal vert... |
ORPHA:3121 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Kyphosis, Neonatal death |
OMIM:618237 |
| Cerebrocostomandibular Syndrome |
|
Bell-shaped thorax, Cleft soft palate, Short hard palate, High palate, Ectopic kidney, Patent duc... |
OMIM:117650 |
| Bruck Syndrome 2 |
|
Platyspondyly, Pectus carinatum, Hydroxyprolinuria, Pterygium, Elbow flexion contracture, Femoral... |
OMIM:609220 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas, Irregular epiphyses, Clinodactyly of the 5th finger, Delayed pubic bone ossific... |
OMIM:618162 |
| Mosaic Trisomy 20 |
|
Narrow chest, Clinodactyly, Spinal canal stenosis, Horseshoe kidney, Down-sloping shoulders, Vert... |
ORPHA:1724 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... |
ORPHA:103918 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Microcolon, Hydroureter, Megacystis, Umbilical hernia, Intestinal m... |
ORPHA:2241 |
| Lethal Congenital Contracture Syndrome 1 |
|
Abnormal thorax morphology, Neonatal death, Widening of cervical spinal canal, Paucity of anterio... |
OMIM:253310 |
| Mucopolysaccharidosis, Type Iiic |
|
Heparan sulfate excretion in urine, Kyphoscoliosis, Hernia, Ovoid thoracolumbar vertebrae, Beakin... |
OMIM:252930 |
| Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip |
OMIM:600251 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Renal agenesis, Duodenal atre... |
OMIM:306955 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cuppe... |
OMIM:614524 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Coronal craniosynostosis, Capitate-hamate fusion, Short toe, Knee dislocation, Genu valgum, Narro... |
OMIM:614078 |
| Czeizel-Losonci Syndrome |
|
1-2 finger syndactyly, Clubbing of toes, Abnormality of the urinary system, Ectrodactyly, Myelome... |
ORPHA:2437 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Congenital hip dislocation, Umbilical hernia, Ureteral triplication, Hydronephrosis, Cubitus valg... |
OMIM:104350 |
| Schwartz-Jampel Syndrome |
|
Elbow dislocation, Abnormality of the ureter, Genu valgum, Hip contracture, Bowing of the long bo... |
ORPHA:800 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate |
OMIM:606713 |
| Meckel Syndrome, Type 1 |
|
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Abnormality of the ureter, Lar... |
OMIM:249000 |
| Marden-Walker Syndrome |
|
High, narrow palate, Renal hypoplasia, Joint contracture of the hand, Congenital contracture, Abn... |
OMIM:248700 |
| Distal Deletion 10P |
|
Short neck, Anal atresia, Ectopic anus, Clinodactyly of the 5th finger, Hypoplasia of penis, Clef... |
ORPHA:1580 |
| Charge Syndrome |
|
Bifid femur, Gastroesophageal reflux, Umbilical hernia, Horseshoe kidney, Abnormal soft palate mo... |
ORPHA:138 |
| Baller-Gerold Syndrome |
|
Finger aplasia, Aplasia/Hypoplasia of the radius, Anteriorly placed anus, Abnormality of the uret... |
ORPHA:1225 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process,... |
OMIM:300232 |
| Atelosteogenesis, Type I |
|
Elbow dislocation, Radial bowing, Fibular aplasia, Bell-shaped thorax, Encephalocele, Neonatal de... |
OMIM:108720 |
| Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... |
ORPHA:175 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Split foot, Cryptorchidism, Orofacial cleft, Widely-spaced maxillary central inc... |
OMIM:601349 |
| Holt-Oram Syndrome |
|
Broad thumb, Abnormal clavicle morphology, Kyphosis, Finger syndactyly, Aplasia/Hypoplasia of the... |
ORPHA:392 |
| Pseudoachondroplasia |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Radial metaphyseal irregularity, Ge... |
OMIM:177170 |
| Duane-Radial Ray Syndrome |
|
Aplasia of metacarpal bones, Absent radius, Anal atresia, Syndactyly, Fused cervical vertebrae, A... |
OMIM:607323 |
| Alg9-Cdg |
|
Bifid uvula, Rhizomelia, Hypoplasia of the bladder, Gastroesophageal reflux, Flared metaphysis, D... |
ORPHA:79328 |
| Limb-Mammary Syndrome |
|
Bifid uvula, Joint contracture of the hand, Split foot, Hypodontia, Hypoplastic nipples, Hallux v... |
OMIM:603543 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology |
ORPHA:276422 |
| Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Platyspondyly, Narrow chest, Thoracic hypoplasia, Flared metaph... |
OMIM:187600 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Bilateral cryptorchidism, Pectus excavatum, High palate, Craniosynostosis, Pyloric stenosis |
ORPHA:314575 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Death in childhood, Intesti... |
OMIM:243150 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the urethra, Finger syndactyly, Micromelia, Abnormality of the upper urinary tract... |
ORPHA:2145 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of vertebral bodies, Horizon... |
ORPHA:239 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Bifid uvula, Ankyloglossia, Cleft palate |
OMIM:303400 |
| Charge Syndrome |
|
Radial head subluxation, Absent radius, Bilateral talipes equinovarus, Anal atresia, Hand monodac... |
OMIM:214800 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Cockayne Syndrome Type 3 |
|
Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Hydroureter, Urinary retent... |
ORPHA:90324 |
| Cat Eye Syndrome |
|
Anal stenosis, Meckel diverticulum, Renal agenesis, Volvulus, Umbilical hernia, Horseshoe kidney,... |
OMIM:115470 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Elbow dislocation, Esophagitis, Perineal fistula, Renal hypoplasia/... |
ORPHA:2538 |
| Achondrogenesis Type 1A |
|
Narrow chest, Micromelia, Umbilical hernia, Multiple rib fractures, Short neck, Short thorax, Fem... |
ORPHA:93299 |
| Coloboma Of Macula And Skeletal Anomalies |
|
Genu valgum, Hallux valgus, Recurrent patellar dislocation, Cleft palate, Coxa valga, Contracture... |
OMIM:216800 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Abnormal vertebral morphology, Short 5th finger, Abnormality of the vertebral column, 2-3 toe syn... |
OMIM:239800 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Bifid uvula, Gastroesophageal reflux, Absent thumb, Cervical ribs, Hor... |
ORPHA:500150 |
| Renpenning Syndrome |
|
High, narrow palate, Clinodactyly of the 5th finger, Abnormal thumb morphology, Sprengel anomaly,... |
ORPHA:3242 |
| Nager Syndrome |
|
Unilateral renal agenesis, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Tri... |
ORPHA:245 |
| Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... |
OMIM:200600 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Short neck, Abnormality of the elbow, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:1486 |
| Mosaic Trisomy 9 |
|
Elbow dislocation, Talipes equinovarus, Short neck, High palate, Hip dislocation, Patent ductus a... |
ORPHA:99776 |
| Joint Laxity, Short Stature, And Myopia |
|
Pectus carinatum, Multiple joint dislocation, Cervical kyphosis, Umbilical hernia, Inguinal herni... |
OMIM:617662 |
| Phaver Syndrome |
|
Ulnar deviation of finger, Broad thumb, Abnormal form of the vertebral bodies, Short thumb, Campt... |
ORPHA:2876 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
| Short Stature And Facioauriculothoracic Malformations |
|
Pectus carinatum, Cleft upper lip, Cervical ribs, Pectus excavatum, High palate, Cleft palate |
OMIM:609654 |
| Smith-Magenis Syndrome |
|
Toe syndactyly, Gastroesophageal reflux, Abnormal form of the vertebral bodies, Abnormality of th... |
ORPHA:819 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology, Paresis of extensor muscles of the big toe, Flexion contracture,... |
ORPHA:99947 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Thoracic hypoplasia, Umbilical hernia, Large placenta, Diastasis recti, Omphalocele, Coat hanger ... |
ORPHA:254534 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Missing ribs, Abnormal rib morphology, Anal atresia, Abnormally oss... |
ORPHA:3301 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Thoracic hypoplasia, Posterior rib cupping, Micromelia, Metaphyseal spurs, Lumbar ... |
OMIM:608728 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis, Hypoplastic scapulae, Narrow chest, Short uvula, Short distal phalanx of finger... |
OMIM:614091 |
| Craniodiaphyseal Dysplasia |
|
Diaphyseal undertubulation, Abnormal rib morphology |
ORPHA:1513 |
| 15Q24 Microdeletion Syndrome |
|
Small hand, Clinodactyly, Microphallus, Myelomeningocele, Congenital diaphragmatic hernia, Abnorm... |
ORPHA:94065 |
| Koolen-De Vries Syndrome |
|
High, narrow palate, Kyphosis, Abnormal dental enamel morphology, Vesicoureteral reflux, Renal du... |
ORPHA:96169 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hydronephrosis, Unilateral renal agenesis, Narrow chest, Knee flexion contracture |
OMIM:620454 |
| Solitary Bone Cyst |
|
Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lytic defects of the radius, Ab... |
ORPHA:83468 |
| Digeorge Syndrome |
|
High, narrow palate, Unilateral renal agenesis, Bifid uvula, Gastroesophageal reflux, Umbilical h... |
OMIM:188400 |
| Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... |
ORPHA:199306 |
| Gm1-Gangliosidosis, Type I |
|
Abnormality of the urinary system, Inguinal hernia, Death in infancy, Hypoplastic vertebral bodie... |
OMIM:230500 |
| Lateral Meningocele Syndrome |
|
Dural ectasia, Keloids, Kyphosis, Umbilical hernia, Inguinal hernia, Biconcave vertebral bodies, ... |
OMIM:130720 |
| Holzgreve Syndrome |
|
Renal hypoplasia, Renal agenesis |
OMIM:236110 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, Unilateral renal agenesis, High palate |
OMIM:308750 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Proteinuria, Aganglionic megacolon... |
ORPHA:261222 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Micromelia, Umbilical hernia, Abnormality of the ureter, Genu valgum, Arachnodactyly,... |
ORPHA:1035 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Cryptorchidism, Fibula... |
OMIM:612447 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myelomeningocele, Inguinal hernia, Hydronephrosis, Contracture of the proximal interphalangeal jo... |
OMIM:620141 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Unilateral renal agenesis, Craniosynostosis |
ORPHA:1064 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Macroglossia, Omphalocele, Umbilical hernia |
OMIM:275100 |
| Kaposiform Lymphangiomatosis |
|
Abnormal scapula morphology, Fractures of the long bones, Hepatosplenomegaly, Abnormal thoracic s... |
ORPHA:464329 |
| Hurler Syndrome |
|
Abnormal vertebral morphology, Abnormal clavicle morphology, Abnormal diaphysis morphology, Campt... |
ORPHA:93473 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short distal phalanx of finger, Short toe, Anteriorly placed anus, Delayed ossification of carpal... |
OMIM:239300 |
| Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia, Abnormal peritoneum morpho... |
ORPHA:2357 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Thin ribs, Short 5th finger, Narrow chest, Short distal phalanx of finger, Triangular shaped dist... |
ORPHA:73230 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormal vertebral morphology, Platyspondyly, Aplasia/hypoplasia involving bones of the extremiti... |
ORPHA:93346 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Abnormal joint morphology, Lumbar scoliosis, Short neck, Metaphyseal dysplasia, Genu varum, Irreg... |
ORPHA:99646 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Color... |
ORPHA:251992 |
| White Forelock With Malformations |
|
Finger syndactyly, Clinodactyly of the 5th finger, Sprengel anomaly, Abnormal rib morphology, Spi... |
ORPHA:2475 |
| Fanconi Anemia, Complementation Group R |
|
Absent thumb, Radial dysplasia, Pelvic kidney, Anal atresia, Scoliosis, Tethered cord |
OMIM:617244 |
| Classical Ehlers-Danlos Syndrome |
|
Gastroesophageal reflux, Cigarette-paper scars, Umbilical hernia, Atrophic scars, Joint swelling,... |
ORPHA:287 |
| Pagod Syndrome |
|
Multicystic kidney dysplasia, Abnormal clavicle morphology, Encephalocele, Congenital diaphragmat... |
ORPHA:991 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Stippling of the epiph... |
ORPHA:79345 |
| Cdags Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Delayed cranial suture closure, Rectoureth... |
OMIM:603116 |
| Kniest Dysplasia |
|
Platyspondyly, Hip dislocation, Rhizomelia, Dumbbell-shaped femur, Flared metaphysis, Umbilical h... |
OMIM:156550 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hiatus hernia, Abnormal rectum morphology, Hernia, Abnormality of the lower urinary tract |
ORPHA:101009 |
| Occipital Horn Syndrome |
|
Platyspondyly, Broad clavicles, Pectus carinatum, Narrow chest, Persistent open anterior fontanel... |
OMIM:304150 |
| Distal Deletion 13Q |
|
Abnormal form of the vertebral bodies, Encephalocele, Renal hypoplasia/aplasia, Aplasia/Hypoplasi... |
ORPHA:1590 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Renal hypoplasia, Clinodactyly, Inguinal hernia, Limb undergrowth, Mic... |
OMIM:616541 |
| Aredyld Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the ureter, Brachydactyly, Scoliosis, Lipoatrophy |
ORPHA:1133 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Dysplasia of the femoral head, Genu valgum, Barrel-shaped chest, Limited elbow movement, Short ne... |
ORPHA:94068 |
| Currarino Syndrome |
|
Anal stenosis, Absence of the sacrum, Recurrent urinary tract infections, Horseshoe kidney, Gastr... |
OMIM:176450 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin ribs, Small hand, Carious teeth, Delayed cranial suture closure, Stenosis of the medullary c... |
ORPHA:93324 |
| Williams Syndrome |
|
Synostosis of joints, Genu valgum, Death in early adulthood, Radioulnar synostosis, Patellar disl... |
ORPHA:904 |
| Anauxetic Dysplasia 3 |
|
Platyspondyly, Broad middle phalanx of finger, Narrow chest, Metaphyseal cupping, Gastroesophagea... |
OMIM:618853 |
| Mucopolysaccharidosis, Type Vii |
|
Hypoplasia of the odontoid process, Urinary glycosaminoglycan excretion, Genu valgum, Talipes equ... |
OMIM:253220 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Pyloric stenosis |
ORPHA:664 |
| Scarf Syndrome |
|
Pectus carinatum, Abnormal form of the vertebral bodies, Umbilical hernia, Diastasis recti, Ingui... |
ORPHA:3134 |
| Shwachman-Diamond Syndrome 1 |
|
Narrow chest, Proximal femoral epiphysiolysis, Persistence of hemoglobin F, Exocrine pancreatic i... |
OMIM:260400 |
| Ellis-Van Creveld Syndrome |
|
Pectus carinatum, Narrow chest, Postaxial foot polydactyly, Natal tooth, Delayed eruption of teet... |
OMIM:225500 |
| Achondrogenesis, Type Ii |
|
Short tubular bones of the hand, Absent vertebral body mineralization, Horizontal ribs, Barrel-sh... |
OMIM:200610 |
| Diphallia |
|
Rectoperineal fistula, Anal atresia, Hypospadias, Epispadias, Absent thumb, Duplicated colon, But... |
ORPHA:227 |
| Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten... |
ORPHA:2978 |
| Sacral Defect With Anterior Meningocele |
|
Sacral lipoma, Hydromyelia, Tethered cord, Urinary retention, Absence of the sacrum, Myelomeningo... |
OMIM:600145 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia |
ORPHA:1046 |
| Fanconi Anemia, Complementation Group B |
|
Abnormal vertebral morphology, Bilateral radial aplasia, Absent thumb, Renal agenesis, Duodenal a... |
OMIM:300514 |
| Prune Belly Syndrome |
|
Pectus carinatum, Congenital hip dislocation, Prune belly, Hydroureter, Xerostomia, Hydronephrosi... |
OMIM:100100 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, 11 pairs of ribs, Tracheoesophageal fistula, Esophageal atresia, H... |
ORPHA:77298 |
| Multiple Pterygium Syndrome, X-Linked |
|
Thin ribs, Joint dislocation, Short finger, Abnormal cervical curvature, Multiple pterygia, Verte... |
OMIM:312150 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... |
ORPHA:449432 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Congenital hip dislocation, Joint contracture of the hand, Exocrine pancreatic insufficiency, Uln... |
ORPHA:456312 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormality of the parathyroid gland, Finger syndactyly, ... |
ORPHA:3429 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele, Clinodactyl... |
OMIM:601163 |
| Marden-Walker Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Arachnodactyly, Radioulnar synostosis, Ab... |
ORPHA:2461 |
| Craniorachischisis |
|
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenita... |
ORPHA:63260 |
| Shprintzen Omphalocele Syndrome |
|
Narrow chest, Lumbar hyperlordosis, Omphalocele, Anal atresia, Scoliosis, Kyphosis |
OMIM:182210 |
| Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Multicystic kidney dysplasia, Hydranencephaly, Myelomeningocele, Bell-shaped t... |
ORPHA:1393 |
| Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
| Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Ovoid thoracolumbar vertebrae, Thickened ribs |
OMIM:252920 |
| Codas Syndrome |
|
Congenital hip dislocation, Hydroureter, Abnormal form of the vertebral bodies, Abnormal dental e... |
ORPHA:1458 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Di... |
OMIM:300863 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the ... |
ORPHA:1856 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Pectus carinatum, Small hand, Rocker bottom foot, Annular pancreas, Clinodactyly, Ankyloglossia, ... |
ORPHA:488642 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal vertebral morphology, Platyspondyly, Hydroureter, Abnormality of the vertebral column, E... |
ORPHA:2273 |
| Xylt1-Cdg |
|
Broad thumb, Joint dislocation, Clinodactyly, Long philtrum, Flared metaphysis, Broad ribs, Short... |
ORPHA:370930 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Genu valgum, Barrel-shaped chest, Multi... |
OMIM:223800 |
| Meier-Gorlin Syndrome 1 |
|
Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact... |
OMIM:224690 |
| Autosomal Recessive Robinow Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Fing... |
ORPHA:1507 |
| Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Renal agenesis, Thoracic hypoplasia, Abnormal sternum morphology, Elb... |
OMIM:618440 |
| Mucopolysaccharidosis, Type Vi |
|
Cervical myelopathy, Pectus carinatum, Hypoplastic acetabulae, Hypoplasia of the odontoid process... |
OMIM:253200 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Encephalocele, Humeroradial synostosis, Limited elbow movement, Radioulnar synost... |
OMIM:134780 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Irregular s... |
OMIM:602111 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
| Cerebrofaciothoracic Dysplasia |
|
Narrow chest, Vertebral segmentation defect, Rib fusion, Hernia, Short neck, Sprengel anomaly, Bi... |
ORPHA:1394 |
| Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Pancreatic fibrosis, Abnormal pit... |
ORPHA:64744 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Bifid uvula, Renal hypoplasia, Spinal dysraphism, Absence of the sacrum, Butterfly vertebrae, Ves... |
OMIM:617660 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cellulitis, Atypical scarring of skin, Knee dislocation, Umbilical hernia, Atrophic scars, Inguin... |
OMIM:618000 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal epiphysis morphology, Downturned corners of mouth, Enamel hypoplasia, Brachydactyly, Abn... |
ORPHA:2643 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis, High palate |
OMIM:308700 |
| Brachyolmia Type 3 |
|
Platyspondyly, Radial deviation of finger, Clinodactyly, Short femoral neck, Proximal femoral met... |
OMIM:113500 |
| Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Femoral bowi... |
OMIM:620076 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, Talipes equinovarus, Sh... |
OMIM:272460 |
| Cole-Carpenter Syndrome 2 |
|
Thin ribs, Coronal craniosynostosis, Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Plat... |
OMIM:616294 |
| Cartilage-Hair Hypoplasia |
|
Asymmetry of the thorax, Narrow chest, Hypoplasia of the odontoid process, Anal stenosis, Metaphy... |
OMIM:250250 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Lambdoidal craniosynostosis, Nephrocalcinosis, Hydroureter, Ureteral stenosis, Ankle clonus, Rena... |
OMIM:615398 |
| Distal Deletion 10Q |
|
Clinodactyly, High palate, Anal atresia, Hip dislocation, Patent ductus arteriosus, Acute kidney ... |
ORPHA:96148 |
| Mucolipidosis Iii Alpha/Beta |
|
Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Inguinal hernia, Spondylolisthesis... |
OMIM:252600 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc... |
ORPHA:163966 |
| Cleidocranial Dysplasia |
|
High, narrow palate, Hypoplastic scapulae, Narrow chest, Abnormal dental enamel morphology, Genu ... |
ORPHA:1452 |
| Coffin-Lowry Syndrome |
|
Pectus carinatum, Bifid sternum, Narrow palate, Inguinal hernia, Uterine prolapse, Rectal prolaps... |
OMIM:303600 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Carpal synostosis, Cutaneous finger syndactyly, Hip contracture, Barrel-shaped chest, Short neck,... |
OMIM:178110 |
| Cole-Carpenter Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Abnormal metaphysis mor... |
ORPHA:2050 |
| Microphthalmia, Syndromic 1 |
|
Joint contracture of the hand, Clinodactyly, Renal hypoplasia/aplasia, Anal atresia, High palate,... |
OMIM:309800 |
| Myhre Syndrome |
|
Abnormal penis morphology, Platyspondyly, Bifid uvula, Abnormal metaphysis morphology, Inguinal h... |
ORPHA:2588 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Thoracolumbar kyphosis, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Death in infa... |
OMIM:617425 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Thin ribs, Joint dislocation, Short finger, Abnormal cervical curvature, Multiple pterygia, Verte... |
OMIM:253290 |
| Bohring-Opitz Syndrome |
|
Gastroesophageal reflux, Joint dislocation, Short toe, Supernumerary nipple, Intestinal malrotati... |
OMIM:605039 |
| Cantú Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Umbilical hernia,... |
ORPHA:1517 |
| Van Maldergem Syndrome 1 |
|
Narrow chest, Renal hypoplasia, Clinodactyly, Anteriorly placed anus, Cutaneous finger syndactyly... |
OMIM:601390 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,... |
OMIM:274000 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Lobulated tongue, Short tibia, Clinodactyly, Hamartoma of tongue, Short finger, F... |
OMIM:258860 |
| Kenny-Caffey Syndrome, Type 1 |
|
Thin ribs, Small hand, Carious teeth, Slender long bone, Congenital hypoparathyroidism, Delayed c... |
OMIM:244460 |
| Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Limited elbow move... |
ORPHA:1826 |
| Lateral Meningocele Syndrome |
|
High, narrow palate, Dural ectasia, Abnormal form of the vertebral bodies, Umbilical hernia, Ingu... |
ORPHA:2789 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Large pl... |
OMIM:215140 |
| Zaki Syndrome |
|
Broad distal phalanx of finger, Toe syndactyly, Renal agenesis, Ectrodactyly, Hypoplasia of the p... |
OMIM:619648 |
| Pancreatic Agenesis 1 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:260370 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... |
OMIM:268310 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Umbilical hernia, Femoral bowing, Biconcave vertebral bodies, Bowing of the long bones... |
OMIM:617952 |
| Sifrim-Hitz-Weiss Syndrome |
|
Bifid uvula, Anteriorly placed anus, Vesicoureteral reflux, Renal insufficiency, Short clavicles,... |
OMIM:617159 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Abnormality of the ankle, Oligodontia of primary teeth, Carpal synostosis, Abnormality of the wri... |
ORPHA:2010 |
| Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Narrow chest, Hypoplastic scapulae, Metaphyseal cupping, Hypoplas... |
ORPHA:85166 |
| Osteogenesis Imperfecta, Type Ii |
|
Thin ribs, Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Tibial bowing, Multiple rib fr... |
OMIM:166210 |
| Renal Dysplasia |
|
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Feingold Syndrome 1 |
|
Accessory spleen, Annular pancreas, Short toe, Polysplenia, Short thumb, Short middle phalanx of ... |
OMIM:164280 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Clinodactyly, Genu valgum, Corner fracture of metaphysis, Interver... |
ORPHA:93315 |
| Three M Syndrome 2 |
|
Thin ribs, Pectus carinatum, Short 5th finger, Clinodactyly, Lumbar hyperlordosis, Short neck, Pr... |
OMIM:612921 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Renal agenesis, Abnormal form of the vertebral bodies, Inguinal hernia, Re... |
ORPHA:3412 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Cutaneous finger syndactyly, Humeroradial synostosis, Chordee, Di... |
OMIM:151050 |
| 1P36 Deletion Syndrome |
|
Delayed cranial suture closure, Abnormal intestine morphology, Abnormality of the kidney, Foot po... |
ORPHA:1606 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short distal phalanx of finger, Renal hypoplasia, Gastroesophageal reflux, Recurrent urinary trac... |
OMIM:617157 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Tarsal synostosis, Patellar... |
OMIM:147891 |
| Vesicoureteral Reflux 3 |
|
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... |
OMIM:613674 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Exocrine pancreatic insufficiency, Ulnar deviation of the 2nd finger, Hepatic s... |
OMIM:616263 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... |
OMIM:600002 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Cleft palate, Cleft upper lip |
OMIM:614402 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis |
ORPHA:401911 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Abnormal localization of kidney, Umbilical hernia, Intestinal malrotation, Encephalocele, Renal h... |
ORPHA:2166 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Glossitis, Methylmalonic aciduria, Cleft palate |
ORPHA:79284 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Shortening of the talar neck, Metaphyseal irregularity, Rachitic rosary,... |
OMIM:307800 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Midshaft hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, Wormian bones, Brachydac... |
ORPHA:2863 |
| Basal Cell Nevus Syndrome 1 |
|
Short 4th metacarpal, Irregular ossification of hand bones, Short distal phalanx of the thumb, Ve... |
OMIM:109400 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Decreased testicular size, Genu valgum, Cryptorchidism, Cleft palate |
OMIM:614880 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Ileal atresia, Kyphoscoliosis, Jejunal atresia, Chordee, Urogenital sinus anomaly, Omphalocele, M... |
OMIM:618820 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Abnormal femoral epiphysis morphology, Abnormal form of the vertebral bodies, Umbilical hernia, I... |
ORPHA:3218 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cryptorchidism, Cleft palate |
OMIM:612370 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Internally rotated shoulders, Cleft soft palate, Reduced subcutaneous adipose tissue, Hip contrac... |
OMIM:619503 |
| Lowe-Kohn-Cohen Syndrome |
|
Nephropathy, Anorectal anomaly, Anal atresia |
ORPHA:2408 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Narrow chest, Hypoplastic scapulae, Femoral bowing, Dumbbell-shaped long bone, Brachydactyly, Met... |
ORPHA:440354 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Thin ribs, Joint contracture of the hand, Genu valgum, Arachnodactyly, Talipes equinovarus, Minim... |
OMIM:182212 |
| Dysosteosclerosis |
|
Platyspondyly, Short diaphyses, Narrow chest, Broad femoral neck, Flared metaphysis, Broad ribs, ... |
OMIM:224300 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Morgagni diaphragmatic hernia, Multiple bladder diverticula, Gastroesophageal reflux, Sandal gap,... |
OMIM:613177 |
| Microphthalmia, Lenz Type |
|
Hydroureter, Abnormal clavicle morphology, Finger syndactyly, Camptodactyly of finger, Abnormal s... |
ORPHA:568 |
| Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Pancreatic fibrosis, Neutr... |
OMIM:232220 |
| Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Hydronephrosis, Cervical C2/C3 vertebral fusion, Short neck, Tra... |
ORPHA:1780 |
| Pallister-Killian Syndrome |
|
Small hand, Postaxial foot polydactyly, Delayed cranial suture closure, Congenital diaphragmatic ... |
OMIM:601803 |
| Scarf Syndrome |
|
Lambdoidal craniosynostosis, Pectus carinatum, Coronal craniosynostosis, Abnormal form of the ver... |
OMIM:312830 |
| Osteogenesis Imperfecta, Type Vii |
|
Dentinogenesis imperfecta, Narrow chest, Rhizomelia, Micromelia, Delayed cranial suture closure, ... |
OMIM:610682 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Neonatal death, Unilateral renal agenesis, Patent ductus arteriosus, Metopic synostosis |
OMIM:620024 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Unilateral renal agenesis, Rectovaginal fistula, Renal agenesis, Anteriorly placed anus |
OMIM:608980 |
| Garg-Mishra Progeroid Syndrome |
|
Thin ribs, Platyspondyly, Narrow chest, Persistent open anterior fontanelle, Slender metacarpals,... |
OMIM:620601 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Atlantoaxial dislocation, Malrotation of small bowel, Cervical kyphosis, Functional abnormality o... |
ORPHA:2953 |
| Limb Body Wall Complex |
|
Progressive congenital scoliosis, Cutaneous finger syndactyly, Encephalocele, Congenital diaphrag... |
ORPHA:2369 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Solitary median ... |
OMIM:602418 |
| Cockayne Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Congenital contracture, Con... |
ORPHA:191 |
| Lethal Kniest-Like Dysplasia |
|
Platyspondyly, Narrow chest, Flared metaphysis, Mesomelic/rhizomelic limb shortening, Short ribs,... |
ORPHA:2347 |
| Meckel Syndrome, Type 3 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Postaxial foot polydactyly, Polydacty... |
OMIM:607361 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Broad thumb, Radial head subluxation, Advanced ossification of carpal bones... |
OMIM:615777 |
| Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Dentinogenesis imperfecta, Biconcave vertebral bodies, Tibial bowing, Wormian bones, S... |
OMIM:259420 |
| Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Umbilical hernia, Inguinal hernia, Short neck, Muco... |
ORPHA:584 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Short... |
ORPHA:2994 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Anisospondyly, Occipital encephalocele, Thoracic hypoplasia, Micromelia, Pterygium, Neonatal deat... |
OMIM:224410 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad femoral neck, Abnormal diaphysis morphology, Short tubular bones of the hand, Broad ribs, W... |
ORPHA:85184 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy, Inguinal hern... |
ORPHA:2215 |
| Hypermobile Ehlers-Danlos Syndrome |
|
High, narrow palate, Atypical scarring of skin, Gastroesophageal reflux, Joint dislocation, Elbow... |
ORPHA:285 |
| Acromesomelic Dysplasia 4 |
|
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... |
OMIM:619636 |
| Ulnar-Mammary Syndrome |
|
Pectus carinatum, Short distal phalanx of finger, Abnormal clavicle morphology, Camptodactyly of ... |
ORPHA:3138 |
| Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Gastroesophageal reflux, Finger syndactyly, Abnormal sternum... |
ORPHA:93932 |
| Williams-Beuren Syndrome |
|
Radioulnar synostosis, Celiac disease, Rectal prolapse, Gastroesophageal reflux, Renal insufficie... |
OMIM:194050 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the ureter, Overlapping toe, Overlapping fingers, Radioulnar synostosis, Short nec... |
ORPHA:798 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Short thumb, Overlapping toe, Inguinal hernia, Syringomyelia, Radioulnar syn... |
ORPHA:436003 |
| Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Bladder polyp, Gastrointestinal carcinoma, Clubbing of fingers, Abnormality ... |
OMIM:175200 |
| Urofacial Syndrome 1 |
|
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... |
OMIM:236730 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Cleft soft palate,... |
OMIM:618529 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Narrow chest, Rhizomelia, Gastroesophageal reflux, Lumbar hyperlordosis, Femoral b... |
OMIM:616482 |
| Hypophosphatasia |
|
Abnormality of the dentition, Narrow chest, Bowing of the long bones, Abnormal rib morphology, Cr... |
ORPHA:436 |
| Smith-Lemli-Opitz Syndrome |
|
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Congenital diaphragm... |
ORPHA:818 |
| Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Leukocytosis |
ORPHA:676 |
| Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... |
OMIM:252500 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Fused ... |
OMIM:618469 |
| 3Mc Syndrome 2 |
|
Abnormal vertebral morphology, Caudal appendage, Abnormality of the vertebral column, Horseshoe k... |
OMIM:265050 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Toe syndactyly, Finger syndactyly, Abnormal dental enamel morphology, Abnormality of the ureter, ... |
ORPHA:3253 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Colonic diverticula, Gastroesophageal reflux, Gastric ulcer, Esophageal furrows, Odynophagia, Eos... |
OMIM:147060 |
| Fg Syndrome 3 |
|
Broad hallux, Broad thumb, Cryptorchidism, Pyloric stenosis |
OMIM:300406 |
| Elsahy-Waters Syndrome |
|
Bifid uvula, Anal stenosis, Anteriorly placed anus, Shortening of all phalanges of fingers, Cutan... |
OMIM:211380 |
| Congenital Myopathy 22A, Classic |
|
Knee contracture, Hip contracture, Thoracic scoliosis, Neonatal death, Achilles tendon contractur... |
OMIM:620351 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
| Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Cleft upper lip, Bowing of the long bones, Postaxial hand polydactyly... |
OMIM:611561 |
| Gm1 Gangliosidosis Type 1 |
|
Abnormal odontoid tissue morphology, Pectus carinatum, Platyspondyly, Beaking of vertebral bodies... |
ORPHA:79255 |
| Campomelic Dysplasia |
|
Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening of all phalanges of f... |
OMIM:114290 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst, Neonatal death |
OMIM:614870 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Toe syndactyly, Fibrous syngnathia, Lip pit, Finger syndactyly, Popliteal pterygium, Cryptorchidi... |
ORPHA:1300 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microglossia, Aplasia/Hypoplasia of the radius, Abnormality of the ankle, Oligodactyly, Abnormali... |
ORPHA:1307 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Thin ribs, Vesicoureteral reflux, Hydronephrosis, Brachydactyly, Craniosynostosis, Arthrogryposis... |
OMIM:618265 |
| Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis, Pectus excavatum, Abnormality of the elbow |
ORPHA:2673 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Sandal gap, Intestinal malrotation, Clinodactyly of the 5th finger, Congenital diaph... |
OMIM:617602 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Splenomegaly,... |
OMIM:616100 |
| Meier-Gorlin Syndrome 7 |
|
Aplasia/Hypoplasia of the patella, Urethral stricture, Anal atresia, High palate, Dislocated radi... |
OMIM:617063 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abnormal vertebral morphology, Platyspondyly, Metaphyseal irregularity, Fibular overgrowth, Thora... |
ORPHA:93352 |
| Arthrogryposis Multiplex Congenita 5 |
|
Hand clenching, Rocker bottom foot, Umbilical hernia, Elbow flexion contracture, Medullary nephro... |
OMIM:618947 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Thin ribs, Glandular hypospadias, Penile hypospadias, Death in infancy, Neonatal death, Micropeni... |
OMIM:300219 |
| Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Short neck, High palate, Dislocated radial head, Ectopic kidney,... |
OMIM:122470 |
| Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Short neck, Anal atresia, Hypospadias, ... |
OMIM:305450 |
| Aspergillosis |
|
Abnormal esophagus morphology, Abnormality of the vertebral column, Abnormality of the kidney, Ab... |
ORPHA:1163 |
| Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas |
OMIM:608189 |
| Acrocapitofemoral Dysplasia |
|
Radial bowing, Short tibia, Dysplasia of the femoral head, Cone-shaped epiphysis of the 1st metac... |
OMIM:607778 |
| Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Congenital hip dislocation, Aplastic anemia, Increased mean corpuscu... |
OMIM:617052 |
| Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Supernumerary ribs, Missing ribs, Rib fusion, Esophageal atresia, Hemiverteb... |
OMIM:206900 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Micromelia, Abnormal rib morphology |
ORPHA:2772 |
| Trisomy 8Q |
|
Camptodactyly of finger, Cryptorchidism, Long thorax, Abnormal oral frenulum morphology, Orofacia... |
ORPHA:1752 |
| Osteogenesis Imperfecta |
|
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Intestinal obstru... |
ORPHA:666 |
| Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Hepatic cysts, Polydactyly |
OMIM:616307 |
| Thoracoabdominal Syndrome |
|
Renal agenesis, Congenital diaphragmatic hernia, Anencephaly, Ventral hernia, Omphalocele, Hyposp... |
OMIM:313850 |
| Antley-Bixler Syndrome |
|
Narrow chest, Long philtrum, Delayed cranial suture closure, Camptodactyly of finger, Femoral bow... |
ORPHA:83 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Neoplasm of the rectum, Neoplasm of the liver, Anal canal squ... |
ORPHA:424019 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Clinodactyly, Radial deviation of finger, Thrombocytopenia, Pyloric stenosis |
OMIM:188025 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis, Aganglionic megacolon, Anal atresia, Inguinal hernia |
OMIM:235760 |
| Neurooculorenal Syndrome |
|
Unilateral renal agenesis, Hypoplasia of the bladder, Short 1st metacarpal, Bilateral renal agene... |
OMIM:620305 |
| Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Small hand, Urinary bladder wall hypertrophy, Short neck, Anal atresia, High palate, Short foot, ... |
ORPHA:280633 |
| Kinsship Syndrome |
|
Mesomelia, Renal hypoplasia, Gastroesophageal reflux, Cervical ribs, Horseshoe kidney, Ankyloglos... |
OMIM:619297 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep philtrum, Bra... |
OMIM:605282 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Radial bowing, Carpal synostosis, Genu valgum, Talipes equinovarus, Short neck, Radial head sublu... |
OMIM:271640 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Abnormal dental enamel morphology, Sacral dimple, Abnormal rectum morp... |
ORPHA:2556 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Hand clenching, Death in infancy, Neonatal death, Short neck, Arthrogryposis multiplex congenita |
OMIM:616342 |
| Osteogenesis Imperfecta, Type Xvi |
|
Platyspondyly, Narrow chest, Rhizomelia, Multiple rib fractures, Wormian bones, Bowing of the lon... |
OMIM:616229 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow chest, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Horizontal ribs, Long thora... |
OMIM:617925 |
| X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Cellulitis, Genu valgum, Bowing of the long bones, Vertebral hyperostosi... |
ORPHA:89936 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hemateme... |
OMIM:263200 |
| Apert Syndrome |
|
Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Delayed ... |
OMIM:101200 |
| Kyphomelic Dysplasia |
|
Platyspondyly, Short femur, Thoracic hypoplasia, Radial bowing, Micromelia, Pterygium, Dumbbell-s... |
OMIM:211350 |
| Townes-Brocks Syndrome |
|
Abnormal vertebral morphology, Toe syndactyly, Broad thumb, Abnormality of the kidney, Rectoperin... |
ORPHA:857 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of f... |
OMIM:616738 |
| Aceruloplasminemia |
|
Hypochromic microcytic anemia, Elevated hepatic iron concentration, Abnormal pancreas morphology,... |
ORPHA:48818 |
| Ivic Syndrome |
|
Carpal synostosis, Limited elbow movement, Carpal bone hypoplasia, Radioulnar synostosis, Limited... |
OMIM:147750 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia, Cryptorchidism |
ORPHA:2617 |
| Kindler Epidermolysis Bullosa |
|
Atypical scarring of skin, Inflammation of the large intestine, Finger syndactyly, Camptodactyly ... |
ORPHA:2908 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Lip pit, Non-midline cleft of the upper lip, Cleft palate |
ORPHA:1072 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Genu valgum, Short ribs, Cupped r... |
OMIM:250420 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Gastroesophageal reflux, Overlapping toe, Postaxial polydactyly, Abnormal renal morphology, Taper... |
OMIM:613792 |
| Orofaciodigital Syndrome Ii |
|
Postaxial foot polydactyly, High palate, Syndactyly, Accessory oral frenulum, Preaxial hand polyd... |
OMIM:252100 |
| Jacobsen Syndrome |
|
Annular pancreas, Clinodactyly of the 5th finger, Cryptorchidism, Missing ribs, Brachydactyly, Th... |
OMIM:147791 |
| Hajdu-Cheney Syndrome |
|
Genu valgum, Fibular bowing, Crowded carpal bones, Short neck, High palate, Dislocated radial hea... |
OMIM:102500 |
| Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Absent thumb, Short thumb, Preaxial hand polydacty... |
OMIM:227646 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Bell-shaped thorax, Short neck, Anterior rib cupping, Broad p... |
OMIM:271665 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Aplastic clavicle, Coronal craniosynostosis, Abnormal clavicle morphology, Delayed cranial suture... |
ORPHA:85199 |
| Opsismodysplasia |
|
Renal phosphate wasting, Narrow chest, Hypoplasia of the odontoid process, Rhizomelia, Metaphysea... |
OMIM:258480 |
| Mucopolysaccharidosis, Type Iiid |
|
Elbow flexion contracture, Heparan sulfate excretion in urine, Inguinal hernia, Thoracic scoliosi... |
OMIM:252940 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... |
OMIM:619079 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Congenital diaphragmatic hernia, Hernia, Talipes equinovarus, Arac... |
ORPHA:280 |
| Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia, Optic disc coloboma, Retinal coloboma, Vesicouret... |
ORPHA:1475 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Death in adolescence, Thickened ribs, Diaphyseal sclerosis |
OMIM:122860 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Anal atresia, Gastroesophageal reflux, Scoliosis, Omphalocele |
ORPHA:3164 |
| Tarp Syndrome |
|
Rocker bottom foot, Meckel diverticulum, Clinodactyly, Horseshoe kidney, Neonatal death, Hydronep... |
OMIM:311900 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h... |
ORPHA:3329 |
| Spinal Cord Injury |
|
Urinary retention, Urinary bladder sphincter dysfunction, Syringomyelia, Spinal cord lesion, Para... |
ORPHA:90058 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... |
ORPHA:2237 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Crossed fused renal ectopia, Vesicoureteral reflux, Spina bifida occulta, A... |
OMIM:617466 |
| Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Villou... |
OMIM:557000 |
| Saul-Wilson Syndrome |
|
Platyspondyly, Pectus carinatum, Short distal phalanx of finger, Hypoplasia of the odontoid proce... |
OMIM:618150 |
| Silver-Russell Syndrome 1 |
|
Delayed cranial suture closure, Abnormality of the ureter, Nephroblastoma, Urethral valve, Hyposp... |
OMIM:180860 |
| Multiple Osteochondromas |
|
Rib exostoses, Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Intestinal obstr... |
ORPHA:321 |
| Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Rectal prolapse, Stercoral ulcer, Anal fissure |
ORPHA:209964 |
| Gorlin Syndrome |
|
Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Rib fusion, Arachnodac... |
ORPHA:377 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... |
OMIM:610199 |
| Nephronophthisis 13 |
|
Pancreatic cysts, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:614377 |
| Noonan Syndrome 4 |
|
Abnormal sternum morphology, Pectus excavatum of inferior sternum, Hydronephrosis, Cubitus valgus... |
OMIM:610733 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Bifid uvula, Hip dislocation, Small hand, Renal dysplasia, Hydronephrosis, Postaxial polydactyly,... |
OMIM:300968 |
| Anus, Imperforate |
|
Ectopic anus, Anal atresia, Hypospadias |
OMIM:301800 |
| Craniometadiaphyseal Dysplasia |
|
Flared metaphysis, Broad ribs, Genu valgum, Wormian bones, Cubitus valgus, High palate, Scoliosis... |
OMIM:269300 |
| Monosomy 9P |
|
Abnormality of the vertebral column, Abnormality of the tarsal bones, Ureteropelvic junction obst... |
ORPHA:261112 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Macroglossia, Umbilical hernia, Large placenta, Vesicoureteral reflux, Congenital di... |
ORPHA:116 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... |
OMIM:614723 |
| Griscelli Syndrome |
|
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen... |
ORPHA:381 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Shallow acetabular fossae, Toe syndactyly, Broad thumb, Talipes equinovarus, Short neck, Aplasia/... |
OMIM:609945 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Gastroesophageal reflux, Renal agenesis, Clinodactyly, Umbilical hernia, Radial deviation of fing... |
OMIM:301040 |
| Occipital Horn Syndrome |
|
Synostosis of joints, Delayed cranial suture closure, Humerus varus, Genu valgum, Esophagitis, Ab... |
ORPHA:198 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Broad thumb, Umbilical hernia, Abnormality of the ureter, Renal hypoplasia/aplasia, Brachydactyly... |
ORPHA:1770 |
| Epidermal Nevus Syndrome |
|
Spinal canal stenosis, Atrophy of the spinal cord, Spinal cord compression, Thoracolumbar scolios... |
ORPHA:35125 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Thin ribs, Glandular hypospadias, Penile hypospadias, Penoscrotal hypospadias, Micropenis |
ORPHA:456328 |
| Sirenomelia |
|
Absence of the sacrum, Abnormality of the urinary system, Aplasia/Hypoplasia of the radius, Siren... |
ORPHA:3169 |
| Van Den Ende-Gupta Syndrome |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Na... |
OMIM:600920 |
| Scalp-Ear-Nipple Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Broad thumb, Finger syndactyly, Pyelone... |
OMIM:181270 |
| Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Dentinogenesis imperfecta, Platyspondyly, Radial bowing, Femoral bowing, Inguinal hern... |
OMIM:610915 |
| Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
| Juvenile Polyposis Of Infancy |
|
Midclavicular hypoplasia, High, narrow palate, Intestinal bleeding, Protein-losing enteropathy, B... |
ORPHA:79076 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Abnormality of the upper urinary tract, Anal atresia, Abnormal sacroiliac joint morphology |
ORPHA:1807 |
| Xp22.3 Microdeletion Syndrome |
|
Ectopic anus, Sacral dimple |
ORPHA:1643 |
| Gracile Bone Dysplasia |
|
Thin ribs, Slender long bone, Flared metaphysis, Ankyloglossia, Brachydactyly, Asplenia, Hypoplas... |
OMIM:602361 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypoplasia of the pancrea... |
ORPHA:93111 |
| Oculocerebrocutaneous Syndrome |
|
Tessier cleft, Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Cry... |
ORPHA:1647 |
| Raine Syndrome |
|
Hydroureter, Thoracic hypoplasia, Micromelia, Long hallux, Protruding tongue, Death in infancy, N... |
OMIM:259775 |
| Kbg Syndrome |
|
Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Clinodactyly of the... |
OMIM:148050 |
| Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Macrodactyly, Renal hypoplasia, Spinal dysraphism, Sandal gap, Nephroblastoma, Lipoma, Scoliosis,... |
OMIM:612918 |
| Microcephaly-Micromelia Syndrome |
|
Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Humeroradial synostosis, Neona... |
OMIM:251230 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Clinodactyly, Radial deviation of finger, Inguinal hernia, Pectus excavatum, High palate, Hypospa... |
OMIM:609944 |
| Periventricular Nodular Heterotopia |
|
Patellar dislocation, Gastroesophageal reflux, Shoulder dislocation, Pyloric stenosis |
ORPHA:98892 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Thin ribs, Renal hypoplasia, Abnormal forearm bone morphology, Fibular... |
ORPHA:3404 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Death in infancy, Neonatal death, Talipes equinovarus, Short neck, Ca... |
OMIM:608104 |
| Restrictive Dermopathy 2 |
|
Short clavicles, Gastroesophageal reflux, Rectal prolapse |
OMIM:619793 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Thin ribs, Congenital hip d... |
OMIM:225400 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Toe syndactyly, 3-4 toe syndactyly, Crossed fused renal e... |
OMIM:300707 |
| Robinow Syndrome |
|
Webbed penis, Short distal phalanx of finger, Multicystic kidney dysplasia, Acromesomelia, Umbili... |
ORPHA:97360 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Organic aciduria, Death in infancy, Neonatal death |
OMIM:617184 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Short neck, Cervical hemivertebrae, Broad p... |
ORPHA:508498 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
High palate, Short foot, Dysphagia, Ectopic kidney, Hypospadias, Patent ductus arteriosus, Short ... |
OMIM:607872 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Genu valgum, Hematuria, Proximal renal tubular acidosis, Patellar dislocation, Hip dislocation, A... |
ORPHA:534 |
| External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Short 5th finger, Congenital hip dislocation, Rocker bottom foot, Pyloric stenosis |
OMIM:133705 |
| Meckel Syndrome, Type 7 |
|
Biliary cirrhosis, Postaxial foot polydactyly, Cholestasis, Hepatosplenomegaly, Portal hypertensi... |
OMIM:267010 |
| Aicardi Syndrome |
|
Block vertebrae, Small hand, Gastroesophageal reflux, Butterfly vertebrae, Intestinal polyposis, ... |
ORPHA:50 |
| Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis, Omphalocele, Gastroschisis |
ORPHA:1198 |
| Larsen Syndrome |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi... |
OMIM:150250 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Supernumerary nipple, Broad ribs, Cryptorchidism, Short ribs, Abnorm... |
ORPHA:2519 |
| Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder, Neonatal death |
OMIM:300076 |
| Mosaic Trisomy 16 |
|
Short forearm, Meckel diverticulum, Clinodactyly, Anteriorly placed anus, Short femoral neck, Hor... |
ORPHA:1708 |
| Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Short neck, Diaphyseal... |
OMIM:601559 |
| Foix-Alajouanine Syndrome |
|
Cervical myelopathy, Myelitis, Functional abnormality of the bladder, Myelopathy, Urinary retenti... |
ORPHA:79093 |
| Penile Agenesis |
|
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Anorectal anomaly, Unilateral ... |
ORPHA:49 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm... |
ORPHA:44890 |
| Alagille Syndrome 1 |
|
Focal segmental glomerulosclerosis, Short distal phalanx of finger, Renal hypoplasia, Multiple sm... |
OMIM:118450 |
| 15q26 overgrowth syndrome |
|
Duplication of renal pelvis, Renal agenesis, Abnormal joint morphology, Horseshoe kidney, Camptod... |
DECIPHER:81 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Bell-shaped thorax, Horizontal r... |
OMIM:614857 |
| Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Cubitus valgus, Short neck, Brachydactyly, Shield chest, Cleft palate |
ORPHA:247768 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Elbow dislocation, Missing... |
ORPHA:2769 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Avascular necrosis of the capital femoral epiphysis, Overlapping toe, Camptodactyly, Pyloric sten... |
OMIM:614262 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Renal cortical cysts, Vesicoureteral reflux, Diastasis recti, Nephroblastoma, N... |
OMIM:130650 |
| Meckel Syndrome |
|
Accessory spleen, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Preaxial hand pol... |
ORPHA:564 |
| Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Clinodactyly, Corneal scarring, Vesicoureteral reflux, Patent ductus arteriosus... |
OMIM:618460 |
| Congenital Myopathy 22B, Severe Fetal |
|
Thin ribs, Tapered toe, Shoulder flexion contracture, Thoracic hypoplasia, Elbow flexion contract... |
OMIM:620369 |
| Lymphangiectasia, Intestinal |
|
Prominent floating ribs, Stillbirth, Intestinal lymphangiectasia |
OMIM:152800 |
| Monosomy 9Q22.3 |
|
Abnormality of the vertebral column, Abnormal rib morphology, Umbilical hernia, Nephroblastoma, P... |
ORPHA:77301 |
| Hadziselimovic Syndrome |
|
Renal hypoplasia, Anal atresia, High palate |
OMIM:612946 |
| Aicardi Syndrome |
|
Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Hiatus hernia... |
OMIM:304050 |
| Mesomelia-Synostoses Syndrome |
|
Abnormal vertebral morphology, Mesomelia, Tarsometatarsal synostosis, Micromelia, Progressive for... |
OMIM:600383 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Fibular aplasia, Humeroradial synostosis, Barrel-shaped chest, Short neck, Elbow a... |
OMIM:276820 |
| Trisomy 8P |
|
Short fifth metatarsal, Bifid uvula, Malrotation of small bowel, Annular pancreas, Clinodactyly o... |
ORPHA:264450 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Bifid uvula, Small hand, Clinodactyly, Cryptorchidism, High palate, Short foot, Cleft palate, Pyl... |
ORPHA:96184 |
| Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Dysphagia, Hemivertebrae, Scoliosis |
OMIM:614688 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Thin ribs, Lumbar hemivertebrae, Thin metatarsal cortices, Thin metacarpal cortices, Loss of trun... |
ORPHA:2463 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Asymmetry of the thorax, Aplasia/Hypoplasia of the phalanges of the toes, Toe syndactyly, Elbow d... |
ORPHA:1112 |
| Autosomal Dominant Centronuclear Myopathy |
|
Thin ribs, Cryptorchidism, Pyloric stenosis |
ORPHA:169189 |
| Branchioskeletogenital Syndrome |
|
Bifid uvula, Ureteral stenosis, Umbilical hernia, Abnormality of the vertebral spinous processes,... |
ORPHA:1299 |
| Alveolar Echinococcosis |
|
Biliary cirrhosis, Abnormal sternum morphology, Abnormal mesentery morphology, Abnormal pelvis bo... |
ORPHA:284 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Hemob... |
ORPHA:512 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Umbilical hernia, Heparan su... |
ORPHA:581 |
| Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Small hand, Broad femoral neck, Distal shortening of limbs, Short neck, Abnormal rib morphology, ... |
ORPHA:488434 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Cleft upper lip, Hypopituitarism, Cryptorchidism, Postaxial polydact... |
OMIM:615849 |
| Pancreatoblastoma |
|
Pancreatic calcification, Jaundice, Abnormal lymph node morphology |
ORPHA:677 |
| Ivic Syndrome |
|
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar... |
ORPHA:2307 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Platyspondyly, Metaphyseal irregularity, Rhizomelia, Metaphyseal cupping, Flared metaphysis, Shor... |
OMIM:608940 |
| Benign Schwannoma |
|
Nasal polyposis, Peripheral schwannoma, Schwannoma, Abnormal cranial nerve morphology, Vestibular... |
ORPHA:252164 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Umbilical hernia, Clinodactyly of the 5th finger, Short neck, Anal atresia, Broad toe, Short 2nd ... |
OMIM:612582 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... |
OMIM:220150 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Platyspondyly, Metaphyseal irregularity, Rhizomelia, Metaphyseal spurs, Flared metaphysis, Bowing... |
ORPHA:85167 |
| Trisomy 12P |
|
Abnormality of the urinary system, Short neck, Large hands, Clinodactyly of the 5th finger, Anal ... |
ORPHA:1699 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Short toe, Umbilical hernia, Clinodactyly of the 5th finger, Brachydactyly, Om... |
ORPHA:1519 |
| Pai Syndrome |
|
Depressed nasal bridge, Nasal polyposis, Midline defect of the nose, Encephalocele, Iris coloboma |
ORPHA:1993 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... |
ORPHA:84 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Hypoplastic iliac wing, Delayed pubic bone ossification, Delayed eruption o... |
OMIM:119600 |
| Distal Deletion 12Q |
|
High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Broad hallux, Short middl... |
ORPHA:96149 |
| Chronic Granulomatous Disease |
|
Liver abscess, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Abnormality of neutrophils,... |
ORPHA:379 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Talipes equinovarus, Short neck, Hepatoblastoma, Long clavicles, Hypospadias, Sacrococcygeal tera... |
OMIM:269150 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... |
OMIM:184253 |
| Beta-Ureidopropionase Deficiency |
|
Elevated urinary ureidopropionic acid level, Elevated urinary N-carbamyl-beta-aminoisobutyric aci... |
OMIM:613161 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Abnormal rib cage morphology, Narrow palate, Clinodactyly of the 5th finger, Inguinal hernia, Dow... |
OMIM:227330 |
| Radiation Proctitis |
|
Hematochezia, Abnormality of connective tissue, Abnormal rectum morphology, Intestinal obstructio... |
ORPHA:70475 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Ectopic kidney, Cystic renal dysplasia, Neonatal death |
OMIM:613730 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Gastrointestinal dysmotility, Flexion contracture of finger, Abnormal spinal cord morphology, Cam... |
ORPHA:88628 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Platyspondyly, Narrow chest, Abnormal scapula morphology, Rhizomelic arm shortening, Metaphyseal ... |
ORPHA:93317 |
| Trisomy 18P |
|
High, narrow palate, Pyloric stenosis, Abnormal finger morphology, Bilateral cryptorchidism |
ORPHA:1715 |
| Teebi Hypertelorism Syndrome 1 |
|
Coronal craniosynostosis, Small hand, Sagittal craniosynostosis, Omphalocele |
OMIM:145420 |
| Apert Syndrome |
|
Bifid uvula, Toe syndactyly, Broad thumb, Finger syndactyly, Micromelia, Cervical C5/C6 vertebrae... |
ORPHA:87 |
| Severe Congenital Nemaline Myopathy |
|
Thin ribs, Arthrogryposis multiplex congenita, Abnormal thorax morphology, Increased connective t... |
ORPHA:171430 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Thin ribs, Coronal craniosynostosis, Pyloric stenosis, Contracture of the distal interphalangeal ... |
ORPHA:83617 |
| Alpha-Mannosidosis, Infantile Form |
|
Platyspondyly, Pectus carinatum, Macroglossia, Oligosacchariduria, Recurrent urinary tract infect... |
ORPHA:309282 |
| Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Joint dislocation, Pectus excavatum, Metacarpophalangeal joint ... |
ORPHA:97297 |
| 8P11.2 Deletion Syndrome |
|
Supernumerary ribs, Talipes equinovarus, High palate, Hypoplasia of penis, Patent ductus arterios... |
ORPHA:251066 |
| Systemic Sclerosis |
|
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... |
ORPHA:90291 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Anuria, Acute colitis, Hemoglobinuria, Colonic stenosis, Rectal prolapse, In... |
ORPHA:90038 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Thro... |
OMIM:300048 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Short neck, High palate, Ren... |
OMIM:266920 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Clinodactyly of the 5th finger, Tapered finger, Hip dysplasia, Pyloric stenosis |
OMIM:617219 |
| Steinfeld Syndrome |
|
Abnormal vertebral morphology, Bifid uvula, Abnormality of the vertebral column, Unilateral renal... |
OMIM:184705 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Omphalocele |
OMIM:601927 |
| Cerebrofacioarticular Syndrome |
|
Renal hypoplasia, Anal stenosis, Caudal appendage, Anteriorly placed anus, Talipes equinovarus, C... |
ORPHA:314679 |
| Tetrasomy 9P |
|
Hypoplastic scapulae, Small hand, Talipes equinovarus, Short neck, High palate, Renal dysplasia, ... |
ORPHA:3310 |
| Aymé-Gripp Syndrome |
|
Delayed cranial suture closure, Abnormal thorax morphology, Clinodactyly of the 5th finger, Conge... |
ORPHA:1272 |
| Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Narrow chest, Hypoplastic scapulae, Cryptorchidism, Short ribs, Fibular hypopla... |
ORPHA:3144 |
| Baller-Gerold Syndrome |
|
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Patellar aplasia, ... |
OMIM:218600 |
| Phocomelia, Schinzel Type |
|
High, narrow palate, Finger aplasia, Aplasia/Hypoplasia of the sacrum, Radial bowing, Micromelia,... |
ORPHA:2879 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Cleft palate, Neonatal death |
OMIM:615524 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Small hand, Annular pancreas, Short thumb, Anteriorly placed anus, Cr... |
OMIM:268400 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Anal atresia, Hypoplasia of penis, Genu valgum, Hypospadias |
ORPHA:1381 |
| Weill-Marchesani Syndrome 1 |
|
Broad phalanges of the hand, Spinal canal stenosis, Broad ribs, Lumbar hyperlordosis, Brachydacty... |
OMIM:277600 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal vertebral morphology, Umbilical hernia, Camptodactyly of finger, Heparan sulfate excreti... |
ORPHA:217085 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Sclerosteosis 1 |
|
Broad clavicles, Deviation of finger, Broad ribs, Sclerotic vertebral endplates, Sclerotic scapul... |
OMIM:269500 |
| Pearson Syndrome |
|
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Exocrine panc... |
ORPHA:699 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D... |
OMIM:174000 |
| Weill-Marchesani Syndrome 2 |
|
Narrow palate, Broad phalanges of the hand, Umbilical hernia, Elbow flexion contracture, Broad ri... |
OMIM:608328 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal vertebral morphology, Umbilical hernia, Camptodactyly of finger, Heparan sulfate excreti... |
ORPHA:217093 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, Le... |
ORPHA:809 |
| Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Upper limb undergrowth, Anencephaly, Hydronephrosis, Talipes equinovar... |
OMIM:236680 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Diamond-Blackfan Anemia 10 |
|
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia, Renal duplication, Supernumerary ... |
OMIM:613309 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Cranioectodermal Dysplasia 2 |
|
Mesomelia, Narrow chest, Rhizomelia, Clinodactyly, Renal insufficiency, Horizontal ribs, Inguinal... |
OMIM:613610 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Foot acroosteolysis, Gastric hypertrophy, Metacarpal periosteal thickening, Periosteal thickening... |
OMIM:161700 |
| Pancreatic And Cerebellar Agenesis |
|
Pectus carinatum, Pancreatic hypoplasia, Overlapping fingers, Anemia, Pancreatic aplasia |
OMIM:609069 |
| Renal Agenesis, Bilateral |
|
Renal agenesis, Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistula, Abnormal s... |
ORPHA:1848 |
| Myopathy, Centronuclear, X-Linked |
|
Cryptorchidism, Arachnodactyly, Slender toe, High palate, Pyloric stenosis |
OMIM:310400 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Broad ribs, Flaring of rib cage, Joint swelling, Fused cervical vertebrae |
OMIM:612852 |
| Tetrasomy 12P |
|
Abnormal soft palate morphology, Short neck, Anal atresia |
ORPHA:884 |
| Restrictive Dermopathy 1 |
|
Rocker bottom foot, Stillbirth, Increased anterioposterior diameter of thorax, Hydropic placenta,... |
OMIM:275210 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Pyloric stenosis |
OMIM:226700 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Death in childhood, Death in infancy, Neonatal death, Death in adolescence, Scoliosis |
OMIM:619055 |
| Orofaciodigital Syndrome Type 4 |
|
High, narrow palate, Bifid uvula, Aplasia/Hypoplasia of the tibia, Joint dislocation, Renal agene... |
ORPHA:2753 |
| Renpenning Syndrome 1 |
|
Renal hypoplasia, Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb ... |
OMIM:309500 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Death in childhood, Neonatal death... |
OMIM:614922 |
| Fetal Akinesia Deformation Sequence 1 |
|
Thin ribs, High, narrow palate, Congenital contracture, Thoracic hypoplasia, Camptodactyly of fin... |
OMIM:208150 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Inflammation of the large intestine, Perianal abscess, Gastrit... |
OMIM:618108 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis |
OMIM:602200 |
| Kabuki Syndrome 1 |
|
Abnormal vertebral morphology, Congenital hip dislocation, Anal stenosis, Short 5th finger, Joint... |
OMIM:147920 |
| Familial Visceral Myopathy |
|
Narrow chest, Hydroureter, Megacystis, Umbilical hernia, Camptodactyly of finger, Vesicoureteral ... |
ORPHA:2604 |
| Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Short distal phalanx of finger, Keloids, Delayed cranial suture closure, Cervical ribs... |
OMIM:601812 |
| Cog1-Cdg |
|
Posterior rib gap, Rhizomelia, Butterfly vertebrae, Vertebral segmentation defect, Rib fusion, Ky... |
ORPHA:263508 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral... |
OMIM:301068 |
| Hallermann-Streiff Syndrome |
|
Thin ribs, Abnormal rib cage morphology, Decreased number of sternal ossification centers, High, ... |
OMIM:234100 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Preaxial hand polydactyly, Distal urethral duplication, Vesicoureteral reflux, Renal hypoplasia/a... |
ORPHA:2549 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Short neck, Abnormal metacarpal morphology, Abnormality of the kidney, Aplasia/hypoplasia of the ... |
ORPHA:2636 |
| Proboscis Lateralis |
|
Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis, High palate, Patent du... |
ORPHA:141099 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Penoscrotal transposition, Narrow chest, Pyloric stenosis, Short thumb, Anteriorly placed anus, O... |
OMIM:619148 |
| Mckusick-Kaufman Syndrome |
|
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Glandular hypospadia... |
ORPHA:2473 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Talipes equinovarus, Short neck, Horizontal inferior border of scapula, Flat acetabular roof, Con... |
OMIM:250220 |
| Von Hippel-Lindau Syndrome |
|
Polycythemia, Pheochromocytoma, Hepatic hemangioma, Pancreatic cysts, Neoplasm of the pancreas |
OMIM:193300 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
High palate, Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Pancreatic apl... |
ORPHA:556955 |
| Wolf-Hirschhorn Syndrome |
|
Radioulnar synostosis, Talipes equinovarus, Short hallux, Hypospadias, Hip dislocation, Gastroeso... |
OMIM:194190 |
| 22Q11.2 Deletion Syndrome |
|
Arachnodactyly, Talipes equinovarus, Short neck, Patellar dislocation, Foot polydactyly, Anal atr... |
ORPHA:567 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Anal atresia, Scoliosis, Prominent fingertip pads |
OMIM:616875 |
| Restrictive Dermopathy |
|
Thin ribs, Microcolon, Arthrogryposis multiplex congenita, Camptodactyly of finger, Small placent... |
ORPHA:1662 |
| Leprechaunism |
|
Megarectum, Nephrocalcinosis, Long penis, Reduced subcutaneous adipose tissue, Rectal prolapse, H... |
ORPHA:508 |
| Fanconi Anemia, Complementation Group C |
|
Anterior wedging of T12, Absent thumb, Renal agenesis, Short thumb, Horseshoe kidney, Absent radi... |
OMIM:227645 |
| Cardiospondylocarpofacial Syndrome |
|
Gastroesophageal reflux, Carpal synostosis, Horseshoe kidney, Fusion of middle ear ossicles, Vesi... |
OMIM:157800 |
| Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Pyloric stenosis |
OMIM:218350 |
| Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the patella, High palate, Duodenal ulcer, ... |
OMIM:135900 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hepatic fibrosis, Periportal fibrosis, Gastrointestinal hemorrhage, Protein-losing enteropathy, C... |
ORPHA:731 |
| Duplication Of Urethra |
|
Urinary bladder wall hypertrophy, Urethral stricture, Chordee, Urinary incontinence, Anal atresia... |
ORPHA:237 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Hypoplastic scapulae, Short 5th toe, Anterior pituitary hypoplasia, ... |
OMIM:181450 |
| Fraser Syndrome 1 |
|
Renal hypoplasia, Aplasia/Hypoplasia of the sternum, Myelomeningocele, Cutaneous finger syndactyl... |
OMIM:219000 |
| Lowry-Maclean Syndrome |
|
High, narrow palate, Abnormality of the abdominal organs, Bilateral cryptorchidism, Midgut malrot... |
ORPHA:2409 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Toe syndactyly, Xerostomia, Ureterocele, Absence of Stensen duct, Duplicated collecting system, R... |
OMIM:604292 |
| Ear-Patella-Short Stature Syndrome |
|
High, narrow palate, Aplastic clavicle, Bifid uvula, Abnormal epiphysis morphology, Elbow disloca... |
ORPHA:2554 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered toe, Clinodactyly of the 5th finger, Inguinal hernia, Rib fusion, Celiac disease, Sacral ... |
ORPHA:544488 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Cryptorchidism, Hip dysplasia, Clinod... |
OMIM:616975 |
| Ellis Van Creveld Syndrome |
|
Narrow chest, Capitate-hamate fusion, Hydroureter, Synostosis of carpal bones, Abnormality of the... |
ORPHA:289 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Gastroesophageal reflux, Volvulus, Cryptorchidism, Madelung deformity, Gastrointestinal dysmotili... |
OMIM:301111 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Short distal phalanx of finger, Anal stenosis, Gastroesophageal reflux, Vesicoureteral reflux, Co... |
OMIM:614080 |
| Down Syndrome |
|
Atlantoaxial dislocation, Narrow palate, Macroglossia, Gastroesophageal reflux, Sandal gap, Umbil... |
ORPHA:870 |
| Aneurysm-Osteoarthritis Syndrome |
|
Intervertebral disk degeneration, Knee osteoarthritis, Arachnodactyly, High palate, Patent ductus... |
ORPHA:284984 |
| Pfeiffer Syndrome Type 3 |
|
Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Horseshoe kidney, Intestinal malrotat... |
ORPHA:93260 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
| Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Umbilical hernia, Broad ribs, Genu valgum, Limited elbow extension, Broad long bone diaphyses, Ta... |
OMIM:301066 |
| Opitz Gbbb Syndrome |
|
Gastroesophageal reflux, Umbilical hernia, Rectourethral fistula, Vesicoureteral reflux, Inguinal... |
OMIM:300000 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Renal cyst, Neoplas... |
ORPHA:480536 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the urethra, Xerostomia, Oral leukoplakia, Camptodactyly of finger, Finger syndact... |
ORPHA:2907 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate |
ORPHA:2736 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227990 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased response to growth hormone stimulation test, Pyloric stenosis, Frequent Giardia lamblia... |
OMIM:615577 |
| 2Q37 Microdeletion Syndrome |
|
Small hand, Toe syndactyly, Finger syndactyly, Supernumerary nipple, Brachydactyly, Clinodactyly ... |
ORPHA:1001 |
| Adrenomyeloneuropathy |
|
Urinary retention, Urinary bladder sphincter dysfunction, Back pain, Dorsal column degeneration, ... |
ORPHA:139399 |
| Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Bilateral cryptorchidism, Lymphopenia, Neutropenia, Pyloric stenosis |
OMIM:616395 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Narrow chest, Cone-shaped epiphysis, Splenomegaly, Horizontal ribs, Short ribs, Short clavicles, ... |
OMIM:617088 |
| Pseudo-Torch Syndrome 2 |
|
Thin ribs, Abnormal renal corticomedullary differentiation, Patent ductus arteriosus |
OMIM:617397 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal morphology of the radius, Abnor... |
ORPHA:249 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Platyspondyly, Growth arrest lines, Diffuse mesangial sclerosis, Horizontal inferior border of sc... |
OMIM:102700 |
| Multiple Myeloma |
|
Nephropathy, Acute kidney injury, Functional abnormality of the gastrointestinal tract, Spinal co... |
ORPHA:29073 |
| Arthrogryposis Multiplex Congenita 6 |
|
Hypospadias, Death in childhood, Death in infancy, Neonatal death, Adducted thumb, Arthrogryposis... |
OMIM:619334 |
| Atresia Of Urethra |
|
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... |
ORPHA:105 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Gastroesophageal reflux, Umbilical hernia, Vesicoureteral reflux, Inguinal hernia, Abnormality of... |
ORPHA:261652 |
| Ablepharon Macrostomia Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Umbilical hernia, Omphalocele, Hypoplasia of penis |
ORPHA:920 |
| Ablepharon-Macrostomia Syndrome |
|
Toe syndactyly, Anteriorly placed anus, Cutaneous finger syndactyly, Ventral hernia, Talipes equi... |
OMIM:200110 |
| 17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Pancreatic aplasia |
ORPHA:261265 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Broad first metatarsal... |
ORPHA:2751 |
| Aspartylglucosaminuria |
|
Abnormal vertebral morphology, Pectus carinatum, Umbilical hernia, Aspartylglucosaminuria, Inguin... |
ORPHA:93 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Thoracolumbar kyphosis, Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatospleno... |
ORPHA:2072 |
| Arteriosclerosis, Severe Juvenile |
|
Anemia, Short phalanx of finger, Gastric ulcer, Hip dysplasia |
OMIM:208060 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto... |
ORPHA:93322 |
| Nestor-Guillermo Progeria Syndrome |
|
Thin ribs, Lipoatrophy, Limited elbow movement, Wide cranial sutures, Delayed closure of the ante... |
OMIM:614008 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Gastroschisis, Ectopic anus, Spina bifida, Anencephaly, Cleft p... |
ORPHA:2476 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Aganglionic megacolon, Shortening of all distal phalanges of the fingers, Scoliosi... |
OMIM:614207 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... |
ORPHA:227982 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis, Iris coloboma |
OMIM:155145 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Camptodactyly of toe, Short neck, Ectopic anus, Craniosynostosis, Hig... |
ORPHA:251038 |
| Feingold Syndrome Type 1 |
|
Toe syndactyly, Abnormality of the kidney, Anal atresia, Duodenal atresia, Patent ductus arterios... |
ORPHA:391641 |
| Keratoderma Hereditarium Mutilans |
|
Autoamputation of digits, Abnormal spinal cord morphology, Cleft palate |
ORPHA:494 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Anal atresia, Scoliosis, Prominent fingertip pads |
ORPHA:480898 |
| Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis, Omphalocele |
OMIM:248450 |
| Floating-Harbor Syndrome |
|
Dilatation of the renal pelvis, Clinodactyly, Short neck, Broad fingertip, Celiac disease, Disloc... |
ORPHA:2044 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Thin ribs, Sandal gap, Delayed cranial suture closure, Decrea... |
OMIM:619127 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Jejunoileal ulceration, Intestinal malrotation, Intestinal atresia, Gastrointestinal atresia, Omp... |
ORPHA:436252 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped ... |
OMIM:300106 |
| Loeys-Dietz Syndrome 1 |
|
Pectus carinatum, Bifid uvula, Dural ectasia, Abnormal sternum morphology, Inguinal hernia, Spond... |
OMIM:609192 |
| Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Volvulus, Rectal prolapse, Intussusception |
OMIM:112200 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Axillary pterygium, Congenital pyloric atresia, Esophageal atresia |
OMIM:226730 |
| Juvenile Polyposis Syndrome |
|
Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Clubbing, Neopla... |
OMIM:174900 |
| Primary Ciliary Dyskinesia |
|
Nasal polyposis, Nasal congestion, Chronic rhinitis, Hydrocephalus, Rod-cone dystrophy, Clubbing |
ORPHA:244 |
| Meckel Syndrome, Type 6 |
|
Hepatic fibrosis, Postaxial foot polydactyly, Cleft upper lip, Absent gallbladder, Hepatic cysts,... |
OMIM:612284 |
| Peters Plus Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Renal hypoplasia/aplasia, Short neck, Anal atresia,... |
ORPHA:709 |
| Fontaine Progeroid Syndrome |
|
Platyspondyly, Coronal craniosynostosis, High, narrow palate, Short distal phalanx of finger, Gas... |
OMIM:612289 |
| 46,Xy Sex Reversal 4 |
|
Ureteropelvic junction obstruction, Hydronephrosis, High palate, Anal atresia, Cleft palate, Rena... |
OMIM:154230 |
| Orofaciodigital Syndrome Type 1 |
|
Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty... |
ORPHA:2750 |
| Pyknoachondrogenesis |
|
Short iliac bones, Horizontal ribs, Short ribs, Aplastic pubic bone, Abnormality of mouth shape, ... |
ORPHA:3003 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Broad hallux, Vesicoureteral reflux, Aganglionic megacolon, Shortening of all dist... |
OMIM:614749 |
| Acrocardiofacial Syndrome |
|
Toe syndactyly, Joint dislocation, Finger syndactyly, Camptodactyly of finger, Split foot, Death ... |
ORPHA:2008 |
| Genitopatellar Syndrome |
|
Congenital hip dislocation, Multicystic kidney dysplasia, Anal stenosis, Malrotation of small bow... |
OMIM:606170 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u... |
ORPHA:2973 |
| Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Neonatal death, S... |
OMIM:256520 |
| Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Recurrent sinusitis, Chronic rhinitis |
OMIM:618695 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Pancreatic hypoplasia, Cervical ribs, Exocrine pancreatic insufficie... |
ORPHA:2255 |
| Myhre Syndrome |
|
Platyspondyly, Clinodactyly, Short toe, Short finger, Radial deviation of finger, Broad ribs, Enl... |
OMIM:139210 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Renal duplication, Ureteral duplication, Anal atresia, Rectovaginal fistu... |
OMIM:270420 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Gastric ulcer, Iron deficiency anemia, Esophageal ulceration |
OMIM:618372 |
| Sotos Syndrome |
|
Abnormal vertebral morphology, Hip contracture, Talipes equinovarus, Abnormality of the kidney, L... |
ORPHA:821 |
| Orofaciodigital Syndrome I |
|
Hepatic fibrosis, Clinodactyly, Radial deviation of finger, Hamartoma of tongue, Ankyloglossia, S... |
OMIM:311200 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess |
OMIM:620534 |
| Wolfram Syndrome |
|
Abnormal mesentery morphology, Gastrointestinal hemorrhage, Anemia, Gastric ulcer |
ORPHA:3463 |
| Cystic Fibrosis |
|
Gastroesophageal reflux, Meconium ileus, Nephrolithiasis, Steatorrhea, Rectal prolapse |
ORPHA:586 |
| Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Death in infancy, Hydronephrosis, Anal atresia, Hypoplasia of penis, Hypo... |
ORPHA:2315 |
| Frontometaphyseal Dysplasia 2 |
|
Bifid uvula, Congenital hip dislocation, Gastroesophageal reflux, Broad thumb, Finger clinodactyl... |
OMIM:617137 |
| Holoprosencephaly 7 |
|
Median cleft palate, Bilateral cleft palate, Unilateral cleft palate, Omphalocele, Occipital meni... |
OMIM:610828 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria |
ORPHA:30 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Narrow palate, Abnormality of the wrist, Abnormal femur morphology, Inguinal hernia, Congenital d... |
ORPHA:2063 |
| Lumbar Syndrome |
|
Renal agenesis, Myelomeningocele, Vesicoureteral reflux, Renal duplication, Ectopic anus, Spina b... |
ORPHA:83628 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis |
OMIM:242670 |
| Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms |
OMIM:614935 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Dysphagia, Pylori... |
OMIM:619461 |
| Peters-Plus Syndrome |
|
Limited elbow movement, Short neck, Short foot, Hypospadias, Short metacarpal, Patent ductus arte... |
OMIM:261540 |
| Cystic Fibrosis |
|
Ileus, Rectal prolapse, Hypercalciuria, Steatorrhea, Meconium ileus, Clubbing of fingers |
OMIM:219700 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Grade III vesicoureteral reflux, Urethral stricture, Chordee, Broad toe, Urinary incontinence, Hi... |
OMIM:619522 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Abnormality of the ureter, Aganglionic megacolon, Brachydactyly, Short... |
ORPHA:3339 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Colon perforation, Microcolon, Glycosuria, Cervical ribs, Umbilical hernia, Intestinal malrotatio... |
OMIM:600001 |
| Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Microglossia, Radial deviation of the hand, Short thumb, Neonatal death, Fibula... |
OMIM:227270 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Hepatic cysts, Pituitary growth hormone cell adenoma, Pancreatic cysts, Polycystic liver disease |
ORPHA:730 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Exocrine pancreatic insufficiency, Absent gallbladder, Hitchhiker thumb, High palate, Pancreatic ... |
OMIM:618500 |
| Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Broad thumb, Pseudoepiphyses of second metacarpal, Rectoperineal fi... |
OMIM:107480 |
| Cardiac Diverticulum |
|
Abdominal wall defect, Aplasia/Hypoplasia of the sternum, Umbilical hernia, Diastasis recti, Omph... |
ORPHA:1686 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Pterygium, Renal duplication, ... |
ORPHA:79403 |
| Bnar Syndrome |
|
Anal stenosis, Abnormal fifth toe morphology, Renal agenesis, Anteriorly placed anus |
ORPHA:217266 |
| Microphthalmia, Syndromic 9 |
|
Renal hypoplasia, Horseshoe kidney, Congenital diaphragmatic hernia, Inguinal hernia, Neonatal de... |
OMIM:601186 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Ectrodactyly, Oligodactyly, Perineal fistula, Hypoplasia of the radius, Rectal atresia, Anal atre... |
ORPHA:3016 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Block vertebrae, Occipital encephalocele, Renal agenesis, Cervical ... |
OMIM:164210 |
| Sweeney-Cox Syndrome |
|
Short distal phalanx of finger, Narrow chest, Gastroesophageal reflux, Velopharyngeal insufficien... |
OMIM:617746 |
| Coccidioidomycosis |
|
Atypical scarring of skin, Abnormality of the vertebral column, Broad ribs, Renal insufficiency, ... |
ORPHA:228123 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Microcolon, Hydroureter, Neonatal death, Hydronephrosis, Fetal megacystis |
OMIM:619362 |
| Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent sinusitis |
OMIM:615518 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Hypospadias, Inguinal hernia, Umbilical hernia |
OMIM:601499 |
| Zygomycosis |
|
Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Hepatitis, Ileitis, Peritonitis, En... |
ORPHA:73263 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, Small hand, Slender finger, Renal dysplasia, Overlapping toe, Hydrone... |
ORPHA:480880 |
| Superficial Siderosis |
|
Functional abnormality of the bladder, Abnormal spinal cord morphology, Atrophy of the spinal cor... |
ORPHA:247245 |
| Ring Chromosome 13 Syndrome |
|
Aplasia/hypoplasia involving bones of the hand, Anencephaly, Aplasia/Hypoplasia of the thumb, Sho... |
ORPHA:96176 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... |
OMIM:231680 |
| Ciliary Dyskinesia, Primary, 30 |
|
Nasal polyposis, Absent outer dynein arms, Nasal congestion |
OMIM:616037 |
| Ciliary Dyskinesia, Primary, 22 |
|
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms |
OMIM:615444 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Villous atrophy, Splenomegaly, Hypoplasi... |
ORPHA:84064 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Toe syndactyly, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Syr... |
ORPHA:140952 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hepatitis, Ileus, Splenomegaly, Recurrent gastroenteritis, Autoimmune hemolytic anemia, Abnormal ... |
ORPHA:37042 |
| Congenital Tracheal Stenosis |
|
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... |
ORPHA:141127 |
| Popliteal Pterygium Syndrome |
|
Bifid uvula, Intercrural pterygium, Popliteal pterygium, Fibrous syngnathia, Cleft upper lip, Cut... |
OMIM:119500 |
| Lethal Congenital Contracture Syndrome 5 |
|
Thin ribs, Flexion contracture, Congenital contracture, Death in infancy |
OMIM:615368 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Platyspondyly, Broad femoral neck, Broad ribs, Increased intervertebral space, Diaphyseal dysplas... |
OMIM:619727 |
| Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
| Hennekam Syndrome |
|
Narrow chest, Finger syndactyly, Camptodactyly of finger, Lymphopenia, Splenomegaly, Lymphadenopa... |
ORPHA:2136 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Hydroureter, Renal agenesis, Ureterocele, Xerostomia, Vesicoureteral reflux, Ingu... |
OMIM:129900 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Atypical scarring of skin, ... |
ORPHA:95455 |
| Ciliary Dyskinesia, Primary, 35 |
|
Nasal polyposis, Chronic rhinitis |
OMIM:617092 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Nasal polyposis, Recurrent sinusitis |
OMIM:620197 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Anorectal anomaly, Short neck, Anal atresia, Pollakisuria, Cleft palate |
ORPHA:647 |
| Ciliary Dyskinesia, Primary, 5 |
|
Nasal polyposis, Recurrent sinusitis, Chronic rhinitis |
OMIM:608647 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Acrocallosal Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Protruding tongue, Anal atresia, H... |
OMIM:200990 |
| Radial Aplasia, X-Linked |
|
Anal atresia, Penile hypospadias, Absent radius |
OMIM:312190 |
| Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis |
OMIM:613808 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Umbilical hernia, Inguinal hernia, 3-Methylglutaconic aciduria, Neonatal death, Death in childhoo... |
OMIM:614052 |
| Ciliary Dyskinesia, Primary, 1 |
|
Anosmia, Nasal polyposis, Chronic rhinitis, Communicating hydrocephalus, Absent outer dynein arms |
OMIM:244400 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Villous atrophy, Decreased pro... |
OMIM:619381 |
| Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Absent inner and outer dynein arms |
OMIM:606763 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Posterolateral d... |
OMIM:194080 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Renal hypoplasia, Absence of the sacrum, Ureteral stenosis, Duodenal atresia, Intestinal malrotat... |
OMIM:270100 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Abnormal epiphysis morphology, Splenomegaly, Bowing of the long bones, Anemia, Lymp... |
ORPHA:667 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Polydactyly, Aganglionic megacolon, Abnormal renal morphology, Tracheoesophage... |
ORPHA:59315 |
| Mhc Class I Deficiency 1 |
|
Nasal polyposis |
OMIM:604571 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla... |
ORPHA:989 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Cryptorchidism, Aplasia of the distal phalanges of t... |
ORPHA:3472 |
| Down Syndrome |
|
Atlantoaxial instability, Shallow acetabular fossae, Clinodactyly, Sandal gap, Duodenal stenosis,... |
OMIM:190685 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Thin ribs, Flexion contracture |
OMIM:614833 |
| Wiedemann-Rautenstrauch Syndrome |
|
Thin ribs, Clinodactyly, Reduced subcutaneous adipose tissue, Talipes equinovarus, Short neck, La... |
OMIM:264090 |
| Immunodeficiency 40 |
|
Focal active colitis, Rectal fistula |
OMIM:616433 |
| Mckusick-Kaufman Syndrome |
|
Congenital hip dislocation, Hydroureter, Vesicovaginal fistula, Mesoaxial hand polydactyly, Hydro... |
OMIM:236700 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Neoplasm of the rectum, Neoplasm of the liver, Anal canal ade... |
ORPHA:424016 |
| Malakoplakia |
|
Urinary bladder inflammation, Neoplasm of the colon, Urinary hesitancy, Hematuria, Proteinuria, N... |
ORPHA:556 |
| Tetraamelia Syndrome 1 |
|
Abnormal clavicle morphology, Abnormal scapula morphology, Renal agenesis, Congenital diaphragmat... |
OMIM:273395 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Anal fissure, Crohn's disease, Perianal abscess, Nephrotic syndrome, Ulcerative colitis |
OMIM:618935 |
| Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Concave nasal ridge, Nasal mucosa vasculitis |
OMIM:608710 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria, Neonatal death |
OMIM:602199 |
| Meacham Syndrome |
|
Aplasia of the right hemidiaphragm, Horseshoe kidney, Death in childhood, Death in infancy, Neona... |
OMIM:608978 |
| Hereditary Mixed Polyposis Syndrome |
|
Hematochezia, Colon cancer, Duodenal adenocarcinoma, Hyperplastic colonic polyposis, Neoplasm of ... |
ORPHA:157794 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Prominent floating ribs, Distal renal tubular acidosis, Renal tubular acidosis, Nephrolithiasis, ... |
ORPHA:2785 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydronephrosis, Hydroureter, Megacystis |
OMIM:619431 |
| Lynch Syndrome |
|
Gastrointestinal hemorrhage, Death in early adulthood, Intestinal polyposis, Salivary gland neopl... |
ORPHA:144 |
| Lipoid Proteinosis |
|
Nasal polyposis |
ORPHA:530 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... |
ORPHA:449395 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t... |
ORPHA:79408 |
| Von Hippel-Lindau Disease |
|
Polycythemia, Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Pancreatic cysts, Neoplasm... |
ORPHA:892 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Nasal polyposis, Renal insufficiency, Hematuria, Proteinuria, Eosinophilia, Tubulointerstitial ne... |
ORPHA:183 |
| Viss Syndrome |
|
Recurrent joint dislocation, Cleft soft palate, Genu valgum, Contracture of the proximal interpha... |
OMIM:619472 |
| Curry-Jones Syndrome |
|
Anal stenosis, Broad thumb, Unicoronal synostosis, Intestinal pseudo-obstruction, Preaxial hand p... |
OMIM:601707 |
| Li-Fraumeni Syndrome |
|
Stomach cancer, Neoplasm of the rectum, Renal neoplasm, Colorectal polyposis, Neoplasm of the gas... |
ORPHA:524 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Colonic atresia, Anteriorly placed anus, Congenital diaphragmatic hernia, Chordee, Micropenis, An... |
OMIM:309801 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Sandal gap, Recurrent urinary tract infections, Recurrent infection of the gastroi... |
OMIM:251260 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Stomach cancer, Neoplasm of the rectum, Flexi... |
ORPHA:440437 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Multicystic kidney dysplasia, Occipital encephalocele, Communicating hydrocephalus, Optic nerve d... |
OMIM:615287 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Inguinal hernia, Death in childhood, Neonatal death, Arachnodact... |
OMIM:614437 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Hamstring contractures, Ankle clonus, Abnormal spinal cord morphology, Dysphagia |
ORPHA:139396 |
| Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Cryptorchidism, High palate, Flat acetabular ... |
OMIM:216340 |
| Primary Sjögren Syndrome |
|
Xerostomia, Parotitis, Polyarticular arthropathy, Renal insufficiency, Abnormal spinal cord morph... |
ORPHA:289390 |
| Mednik Syndrome |
|
Microcolon, Volvulus, Death in childhood, Death in infancy, Neonatal death, Jejunal atresia |
OMIM:609313 |
| Kindler Syndrome |
|
Anal stenosis, Oral leukoplakia, Phimosis, Dysphagia, Esophageal stenosis, Urethral stenosis |
OMIM:173650 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Femur fracture, Death in childhood, Death in infancy |
OMIM:612301 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenocarcinoma of the colon, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic po... |
ORPHA:447877 |
| Acute Disseminated Encephalomyelitis |
|
Myelitis, Abnormal spinal cord morphology |
ORPHA:83597 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Congenital pyloric atresia |
ORPHA:158684 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad thumb, Dilatation of the renal pelvis, Gastroesophageal reflux, Hyperechogenic kidneys, Kne... |
OMIM:619534 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Rectal abscess, Urachal cyst |
OMIM:608203 |
| Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer |
ORPHA:454840 |
| Sarcoidosis |
|
Nephrocalcinosis, Renal insufficiency, Nephrolithiasis, Eosinophilia, Hypercalciuria, Abnormal na... |
ORPHA:797 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Cellulitis, Rectal abscess |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Cellulitis, Rectal abscess |
OMIM:233710 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Cellulitis, Rectal abscess |
OMIM:233690 |
| Amoebiasis Due To Free-Living Amoebae |
|
Intrarenal abscess, Abnormal spinal cord morphology |
ORPHA:68 |
| Granulomatous Disease, Chronic, X-Linked |
|
Cellulitis, Rectal abscess |
OMIM:306400 |
| Leukocyte Adhesion Deficiency, Type I |
|
Rectal abscess |
OMIM:116920 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess |
OMIM:601495 |
| Johanson-Blizzard Syndrome |
|
Colonic diverticula, Anteriorly placed anus, Death in childhood, Hydronephrosis, Micropenis, Clin... |
OMIM:243800 |
| Carney Complex |
|
Dorsocervical fat pad, Esophageal neoplasm, Neoplasm of the rectum, Neoplasm of the stomach, Tong... |
ORPHA:1359 |
