| Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
| Hypertrophy Of The Breast, Juvenile |
|
Abnormal thorax morphology |
OMIM:113670 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Unilateral renal agenesis, Short thorax, Ureteral atresia, Verte... |
OMIM:618845 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Rhizomelia, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney... |
OMIM:617661 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of... |
OMIM:601389 |
| Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Omphalocele, Spina bifida, Renal hypoplasia/apla... |
ORPHA:1756 |
| Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Short neck, Anorectal anomaly, Abnormal form of the vertebral bo... |
ORPHA:1834 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis, Short neck, Abnormal rib morphology, Cleft ... |
OMIM:118100 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Abnormal rib morphology, Abnormality o... |
OMIM:601076 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver... |
OMIM:271520 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Trigonocephaly 1 |
|
Omphalocele, Craniosynostosis, High, narrow palate, Long penis, Lumbar hemivertebrae, Metopic syn... |
OMIM:190440 |
| Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
| Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
| Pseudodiastrophic Dysplasia |
|
Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equino... |
ORPHA:85174 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Renal agenesis, Abnormal thorax morphology, Cleft palate, Upper limb phocomelia, Atyp... |
ORPHA:294975 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ... |
ORPHA:3109 |
| Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Congenital... |
ORPHA:887 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
| Braddock Syndrome |
|
Unilateral renal agenesis, Short neck, Pectus excavatum, Missing ribs, Preaxial hand polydactyly,... |
ORPHA:52047 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Pectus... |
OMIM:263750 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Inguinal hernia, Pectus excavatum, Submucous cleft hard palate, Supernumerary r... |
OMIM:619122 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Short neck, Ectopic kidney, Abnormal rib morphology, Vertebral segmentation defec... |
ORPHA:2578 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placeme... |
ORPHA:93267 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Vertebral segmentation defect, Vesicoureteral reflux, Multicystic kid... |
ORPHA:2970 |
| 3Q29 Microdeletion Syndrome |
|
Hypospadias, Tapered finger, Pectus excavatum, Patent ductus arteriosus, Horseshoe kidney, Pectus... |
ORPHA:65286 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Renal agenesis, Unilateral renal agenesis, Pectus excavatum, Esophageal atresia, Submucous cleft ... |
OMIM:619227 |
| Melnick-Needles Syndrome |
|
Omphalocele, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Short thorax, ... |
ORPHA:2484 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Renal hypoplasia/aplasia, Abnormal sacrum morphology, Abnormal rib morp... |
ORPHA:2345 |
| Cloacal Exstrophy |
|
Hypoplasia of penis, Ectopic kidney, Abnormal tibia morphology, Hemivertebrae, Ureterocele, Vesic... |
ORPHA:93929 |
| Humero-Radio-Ulnar Synostosis |
|
Radioulnar synostosis, Abnormality of the ureter, Elbow ankylosis, Abnormality of the upper urina... |
ORPHA:3266 |
| Emanuel Syndrome |
|
Sacral dimple, Multiple joint contractures, Inguinal hernia, Congenital hip dislocation, Kyphosco... |
ORPHA:96170 |
| Boomerang Dysplasia |
|
Omphalocele, Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius,... |
ORPHA:1263 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
| Emanuel Syndrome |
|
Sacral dimple, Recurrent urinary tract infections, Inguinal hernia, Intestinal malrotation, Unila... |
OMIM:609029 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping toe, Unilateral renal agenesis, High, narrow palate, Renal hypoplasia, Cleft palate, ... |
OMIM:618494 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Sacral dimple, Abnormality of the ureter, Hypospadias, Short neck |
ORPHA:2487 |
| Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis, Cleft palate, Scoliosis |
OMIM:619504 |
| Miller-Dieker Syndrome |
|
Clinodactyly of the 5th finger, Nephropathy, Sacral dimple, Omphalocele |
ORPHA:531 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
| Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Pectus e... |
OMIM:616362 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Neonatal death, Abnormal ve... |
OMIM:615709 |
| Fibrochondrogenesis 1 |
|
Short neck, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal suture, Posterior ... |
OMIM:228520 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ... |
ORPHA:2311 |
| Oeis Complex |
|
Congenital hip dislocation, Epispadias, Hemivertebrae, Anteriorly placed anus, Duplicated colon, ... |
OMIM:258040 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Tooth agenesis, Cryptorchidism, Non-midline cleft lip, Cleft palate |
ORPHA:1074 |
| Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... |
ORPHA:1354 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abno... |
ORPHA:2319 |
| Distal Duplication 15Q |
|
Omphalocele, Arachnodactyly, Camptodactyly of finger, Short neck, Pectus excavatum, High palate, ... |
ORPHA:1707 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Renal hypoplasia/aplasia, Abnormal sacrum morphology, Long penis, R... |
ORPHA:1988 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur... |
OMIM:143400 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Short neck, High palate, Clinodactyly of the 5... |
OMIM:201000 |
| Sprengel Deformity |
|
Abnormal shoulder morphology, Cleft palate |
ORPHA:3181 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Abnormal rib morphology, C... |
ORPHA:1703 |
| Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib ... |
ORPHA:2021 |
| Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
| 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 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect |
OMIM:608681 |
| Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Congenital diaphragm... |
ORPHA:2260 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate |
OMIM:172880 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
| Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Cleft palate, High ... |
ORPHA:376 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum,... |
ORPHA:2522 |
| Short-Rib Thoracic Dysplasia 12 |
|
Short neck, Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, N... |
OMIM:269860 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Intestinal m... |
ORPHA:3035 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... |
ORPHA:234 |
| Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Encephalocele, Omphalocele, Renal agenesis, Postaxial hand polydactyly, Hemiver... |
OMIM:264480 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Omphalocele, Hypospadias, Overlapping toe, Intestinal malrotation, Pectus excavatum, Lo... |
OMIM:618316 |
| Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Duodenal atresia |
ORPHA:1203 |
| Melnick-Needles Syndrome |
|
Anterior concavity of thoracic vertebrae, Tibial bowing, Narrow chest, Ureteral stenosis, Cone-sh... |
OMIM:309350 |
| Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
| Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Prominent fingertip pads, Scapular winging, Lumbar hyperlordosis, Toe syndactyly, Sa... |
OMIM:609625 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Short neck, Kyphosis, High palate, Prenatal death, Camptoda... |
OMIM:618393 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
| C Syndrome |
|
Omphalocele, Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Po... |
OMIM:211750 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Hemivertebrae, High palate, Narrow chest, Ve... |
OMIM:213980 |
| Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... |
ORPHA:2635 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Gastroesophageal reflux, Hernia, Finger syndactyly, Multicystic ... |
ORPHA:2092 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Hypoplastic s... |
OMIM:308050 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Unilateral renal agenesis, Kyphosis, Patent ductus arteriosus, Scoliosis, Cervi... |
OMIM:617190 |
| Fraser Syndrome 2 |
|
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Short neck, Short thorax, Rect... |
OMIM:617666 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
| Trisomy 1Q |
|
Omphalocele, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finge... |
ORPHA:261344 |
| Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Rocker bottom foot, Unilateral renal agenesis, Camptodactyly of finger... |
OMIM:619951 |
| Triploidy |
|
Omphalocele, Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Short n... |
ORPHA:3376 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... |
ORPHA:2790 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... |
OMIM:311300 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta... |
OMIM:609052 |
| Osteopathia Striata With Cranial Sclerosis |
|
Osteopathia striata, High palate, Gastroesophageal reflux, Clinodactyly of the 5th finger, Broad ... |
OMIM:300373 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression... |
OMIM:222600 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Short thorax, Enlarged thorax, Multiple renal cysts, Absent or minimall... |
ORPHA:66637 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Gastroesophagea... |
ORPHA:95699 |
| Fryns Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrota... |
ORPHA:2059 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow chest, Short tibia, Unicoronal synosto... |
OMIM:616300 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
| Feingold Syndrome |
|
Hallux valgus, Brachydactyly, Toe syndactyly, Abnormality of the spleen, Esophageal atresia, Devi... |
ORPHA:1305 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h... |
ORPHA:373 |
| Hypersulfaturia |
|
Increased urinary sulfate, Costochondral pain, Nephrolithiasis |
OMIM:620372 |
| Pentalogy Of Cantrell |
|
Encephalocele, Omphalocele, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Abnorma... |
ORPHA:1335 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... |
ORPHA:474 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Rocker bottom foot, Craniosynostosis, Coxa valga, Post... |
OMIM:301056 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydacty... |
OMIM:615503 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Os odontoideum, Unilateral renal agenesis, Hip dislocation, Talipes equinovarus, Hernia, Wormian ... |
OMIM:616603 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Pectus excavatum, Rectal prolapse, Small hand, Horseshoe kidney, Narrow palate, S... |
OMIM:235510 |
| Mosaic Trisomy 1 |
|
Thoracic scoliosis, Congenital diaphragmatic hernia, Renal cyst, Finger clinodactyly, Micropenis,... |
ORPHA:1692 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Unilateral renal agenesis, Postaxial polydactyly, P... |
OMIM:618142 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Sho... |
OMIM:312870 |
| Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly |
OMIM:193500 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Missing ribs, Ectopic kidney, Aplasia/... |
ORPHA:3027 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Pectus excavatum, Pierre-Robin sequence, Abnormal rib mo... |
OMIM:602196 |
| Fryns Syndrome |
|
Ureteral duplication, Proximal placement of thumb, Short neck, Renal cyst, Prominent fingertip pa... |
OMIM:229850 |
| Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
| Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Gastric varix, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow... |
OMIM:156530 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Long clavicles, Diastasis recti, Kyphoscoliosis, Coxa valga, Long f... |
OMIM:608149 |
| Chromosome 9P Deletion Syndrome |
|
Long toe, Omphalocele, Inguinal hernia, Hypospadias, Sandal gap, Hallux varus, Short neck, Tapere... |
OMIM:158170 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Short neck, Metaphysea... |
OMIM:263210 |
| Burn-Mckeown Syndrome |
|
Inguinal hernia, Unilateral renal agenesis, Renal hypoplasia, Cleft palate, 2-3 toe syndactyly, B... |
OMIM:608572 |
| Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Bowing of the long... |
ORPHA:1318 |
| Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Hypospadias, Overlapping toe, Unilateral renal agenesis, Proximal placement of t... |
OMIM:616737 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Hypoplasia of first ribs, Foot ... |
OMIM:154400 |
| Perlman Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, High, narrow palate, Cryptorchidism |
ORPHA:2849 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Short femur, Anterior encephalocele, Foot oligodactyly, Scol... |
OMIM:601357 |
| Hyperparathyroidism, Transient Neonatal |
|
Inguinal hernia, Short femur, Wide cranial sutures, Metaphyseal spurs, Unilateral renal agenesis,... |
OMIM:618188 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Joint dislocation, Inguinal hernia, Atypical scarring of skin, Colon cancer, Scoliosis, Umbilical... |
OMIM:617174 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the ver... |
ORPHA:2234 |
| Familial Melanoma |
|
Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach |
ORPHA:618 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Omphalocele, Inguinal hernia, Overlapping toe, Diastasis recti, Pectus excavatum, Large... |
ORPHA:254528 |
| Opitz Gbbb Syndrome |
|
Omphalocele, Inguinal hernia, Prominent metopic ridge, Hypospadias, Congenital diaphragmatic hern... |
ORPHA:2745 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Anteriorly placed anus, Dysphagia, Abnormal vertebral morphology, Ethmoi... |
ORPHA:280195 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis, 2-3 toe syndactyly, High palate, Talipes equinovarus, Hernia, Clinodac... |
ORPHA:3306 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Bell-shaped thorax, Short long bone... |
OMIM:615633 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Abnormality of the a... |
ORPHA:281090 |
| Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Renal hypoplasia, Abnormality of the vertebral column, Stillbirth... |
OMIM:276950 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Duplication involving bones of the feet, Optic nerve dysplasia, Scoliosis |
OMIM:246000 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Rocker bottom foot, Short neck, Paucity of anterior horn ... |
OMIM:611890 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Overlapping fingers, Short neck, Narrow palate, Femoral bowing, ... |
OMIM:617022 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Neurogenic bladder, Anal stenosis, Abnormal odontoid process morphology, Block ... |
OMIM:613686 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Hypospadias, Unilateral renal agenesis, Tapered finger, Pectus exc... |
ORPHA:464311 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Hydroureter, Unilateral renal agenesis, Short neck, Pectus excavatum, Kyphosis, ... |
OMIM:619194 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Diastasis recti, Unilateral renal agenesis, Bifid distal phalanx of the thumb, Pylor... |
OMIM:618419 |
| Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Synost... |
ORPHA:3258 |
| Fetal Encasement Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Upper limb undergrowth, Horseshoe kidney, Increased... |
OMIM:613630 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia... |
OMIM:613390 |
| Even-Plus Syndrome |
|
Recurrent urinary tract infections, Short neck, Vertebral clefting, Renal hypoplasia, Coronal cle... |
OMIM:616854 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Pectus excavatum, Micropenis, Unilateral renal agenesis |
OMIM:244200 |
| Zttk Syndrome |
|
Polyuria, Unilateral renal agenesis, Craniosynostosis, Kyphosis, Patent ductus arteriosus, Submuc... |
OMIM:617140 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Omphalocele, Hydroureter, Hypospadias, Intestinal malrotation, Diastasis recti, Esophageal atresi... |
OMIM:265380 |
| Schisis Association |
|
Encephalocele, Omphalocele, Renal agenesis, Micromelia, Spina bifida, Congenital diaphragmatic he... |
ORPHA:63862 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala... |
ORPHA:1506 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... |
OMIM:304120 |
| Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... |
ORPHA:628 |
| Iniencephaly |
|
Encephalocele, Omphalocele, Rhizomelia, Renal agenesis, Rocker bottom foot, Hyperlordosis, Spina ... |
ORPHA:63259 |
| Mucopolysaccharidosis, Type Iva |
|
Short neck, Metaphyseal widening, Pectus carinatum, Anterior beaking of lumbar vertebrae, Flaring... |
OMIM:253000 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Renal cyst, Gastroesophageal reflux, Clinodactyly of the 5th finger,... |
ORPHA:464306 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
| Bresek Syndrome |
|
Hypoplasia of the bladder, Aganglionic megacolon, Postaxial hand polydactyly, Hemivertebrae, Rena... |
ORPHA:85284 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involvi... |
ORPHA:371428 |
| Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, High, narrow palate, Abnormal rib morphology, Abnormality o... |
ORPHA:3378 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
| Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Omphalocele, Cleft palate, Abnormal rib cage morphology, Hand polydact... |
OMIM:217100 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Postaxial polydactyly, Unilateral renal agenesis, Patent ductus arteriosus, Eso... |
OMIM:614576 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Pectus excavatum, Osteoarthritis, Cleft palate, Pectus carinatum, Glossoptosis, Long philtrum, Ab... |
ORPHA:166100 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Unilateral renal agenesis, Short metatarsal, Spinal canal stenos... |
OMIM:101800 |
| Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i... |
OMIM:167800 |
| 3Mc Syndrome 1 |
|
Omphalocele, Sacral dimple, Single interphalangeal crease of fifth finger, Diastasis recti, Paten... |
OMIM:257920 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Death in infancy, Multicystic kidney dysplasia, Inguinal hernia, Hypospadias, Renal ... |
OMIM:308205 |
| 7Q11.23 Microduplication Syndrome |
|
Sacral dimple, Inguinal hernia, Hypospadias, Unilateral renal agenesis, Short neck, Pectus excava... |
ORPHA:96121 |
| Leopard Syndrome 1 |
|
Scapular winging, Hypospadias, Kyphoscoliosis, Missing ribs, Pectus excavatum, Short neck, Unilat... |
OMIM:151100 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Cleft palate, Unilateral renal agenesis, Short distal phalanx of finger |
OMIM:601355 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Scolio... |
OMIM:611555 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Hepatic fibrosis, Narrow ... |
OMIM:208500 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Tracheoesophag... |
ORPHA:93941 |
| Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Narrow chest, Dumbbell-shaped long bone, Advanced tarsal ossif... |
OMIM:269250 |
| Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Flexion contracture, Cleft palate, Death in childhood, Talipes equinovarus, Narrow c... |
OMIM:619124 |
| Reynolds Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Arthritis, Gastroesophage... |
ORPHA:779 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Sacral dimple, Short neck, Kyphosis, Clinodactyly, Patent ductus arterio... |
OMIM:616894 |
| Williams-Beuren Region Duplication Syndrome |
|
Patent ductus arteriosus, High palate, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
| Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Renal malrotation, Branchial fistula, Congenital hip dislocation, Intestinal malr... |
OMIM:113650 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Anterior rib cupping, Metaphyseal widening, Neutropenia, Genu va... |
OMIM:617941 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosi... |
ORPHA:3082 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Pate... |
OMIM:618454 |
| Esophageal Atresia |
|
Omphalocele, Barrett esophagus, Renal agenesis, Intestinal malrotation, Pyloric stenosis, Gastroi... |
ORPHA:1199 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney, Hydronephrosi... |
ORPHA:195 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Coxa valga, Short thorax, Advanc... |
OMIM:618363 |
| Osteogenesis Imperfecta, Type X |
|
Thoracic scoliosis, Micromelia, Tibial bowing, Narrow chest, Death in childhood, Broad ribs, Rhiz... |
OMIM:613848 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae, Abnormal f... |
ORPHA:2180 |
| Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Malrotation of colon, Abnormal ossification involving the femoral... |
ORPHA:1190 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... |
OMIM:602271 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Apl... |
ORPHA:2141 |
| Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the pancreas, Abnormality of ... |
ORPHA:543 |
| C Syndrome |
|
Omphalocele, Death in infancy, Sacral dimple, Multicystic kidney dysplasia, Toe syndactyly, Joint... |
ORPHA:1308 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Rectal prolapse, High palate, Clin... |
ORPHA:235 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Abnorm... |
ORPHA:401911 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, Short neck, H... |
ORPHA:3015 |
| Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Absent thumb, Absent radius, Esophagea... |
OMIM:614083 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Anterior rib cupping, Hyperlordosis, ... |
OMIM:184250 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Esophageal atresia, Tra... |
OMIM:314390 |
| Thoracolaryngopelvic Dysplasia |
|
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... |
OMIM:187760 |
| Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Broad ha... |
ORPHA:2308 |
| X-Linked Intellectual Disability, Abidi Type |
|
Pectus excavatum, Non-midline cleft lip, Decreased testicular size, Cleft palate |
ORPHA:85273 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, E... |
ORPHA:2869 |
| Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect... |
OMIM:614527 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Dysphagia, Death in adolescence, Stillbirth, Scoliosis, Camptodactyly, ... |
OMIM:619751 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology,... |
ORPHA:93351 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Hyperlordosis, Sh... |
ORPHA:582 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Absence of intrinsic factor |
OMIM:243320 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... |
OMIM:608022 |
| Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Hemivertebrae, Aplasia of the bladder, High palate, Narrow chest... |
OMIM:200980 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Brachydactyly, Lumbar hyperlordosis, Inguinal hernia, Ovoid vertebral bodies, Cranios... |
OMIM:619451 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Hyperlordosis, Clinodactyly of the... |
ORPHA:221139 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Omphalocele, Micromelia, Short neck, Craniosynostosis, Postaxial hand polydact... |
OMIM:200995 |
| Trisomy 20P |
|
Short neck, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Hernia, Finger ... |
ORPHA:261318 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Renal agenesis, Broad hallux, Ectopic kidney, Pectus excavatu... |
OMIM:212780 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... |
OMIM:613091 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Hyperlordosis, Abnormal femur morphology, Lower limb undergrowth, Scoliosis, Anal atresia |
ORPHA:2310 |
| Codas Syndrome |
|
Omphalocele, Short humerus, Short metacarpal, Metaphyseal dysplasia, Congenital hip dislocation, ... |
OMIM:600373 |
| Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia, Ventral shortening of foreskin, Esophageal atresia,... |
ORPHA:95706 |
| 3C Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Death in infancy, Hypospadias, Intestinal malrotation, In... |
ORPHA:7 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... |
ORPHA:2470 |
| Isolated Hemihyperplasia |
|
Inguinal hernia, Myelomeningocele, Asymmetry of the thorax, Scoliosis, Nephroblastoma |
ORPHA:2128 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Prominent metopic ridge, Broad hallux, Unilateral renal agenesis, Postaxial poly... |
ORPHA:457284 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Kyphoscoliosis, Short neck, Coxa valga, Large plac... |
ORPHA:254519 |
| Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
| Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Sacral dimple, Inguinal hernia, Abnormality of the abdominal wall, Cleft palate, Joi... |
OMIM:247200 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
| Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bones |
OMIM:259440 |
| Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Tarsal synostosis, Camptodactyly of finger, Pectus excavatum, High, narrow pal... |
ORPHA:957 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... |
ORPHA:64743 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... |
OMIM:602535 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Craniosynostosis, Pyloric stenosis... |
ORPHA:261197 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Pect... |
ORPHA:2911 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Bowing of the long bones, Polycystic liver disease, Polysplenia |
OMIM:211890 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Hypospadias, Fractured radius, Wormian bones, Short neck, Be... |
OMIM:616897 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Proteinuria, Intestinal malrotation, Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:2143 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Unilateral renal agenesis, Increased connective tissue, Hiatus hernia, Atrophic scars, Joint subl... |
OMIM:606408 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thu... |
ORPHA:1120 |
| Bladder Exstrophy |
|
Omphalocele, Hypoplasia of penis, Recurrent urinary tract infections, Inguinal hernia, Intestinal... |
ORPHA:93930 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contracture of fin... |
ORPHA:1145 |
| Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Open bite, Abnormal rib morphology, Abnormal pelvic ... |
ORPHA:2097 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial... |
OMIM:263520 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Short palm, Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Preaxial hand p... |
ORPHA:93271 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Anal atresia, Sacral dimple, Hemivertebrae, Horseshoe kidney |
OMIM:619318 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Hypospadias, Missing ribs, Hemivertebrae, Cleft palate, Hydronephrosis, Anal atresia |
OMIM:220210 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Sacral dimple, Toe syndactyly, Camptodactyly of finger, Unilateral renal agene... |
ORPHA:261337 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Congenital diaphragmatic hern... |
ORPHA:1488 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Wide-cupped costochondral junctions, Flared metaphy... |
OMIM:187601 |
| Acalvaria |
|
Omphalocele, Postaxial hand polydactyly, Spina bifida, Cleft palate |
ORPHA:945 |
| Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Renal agenesis, Short neck, Hemivertebrae, Renal hypoplasia, Re... |
OMIM:615583 |
| Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Abnormality of the upper urinary tract, Spina bifida, Conge... |
ORPHA:3380 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Short neck, Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agenesis,... |
OMIM:236500 |
| Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Heparan sulfate excretion in urine, Ovoid thoracolumbar vertebra... |
OMIM:252900 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Inguinal hernia, Pectus excavatum, Kyphosis, Umbilical hernia, Nephroblastoma, Enl... |
OMIM:618272 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Abnormality o... |
ORPHA:3409 |
| Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Nephrolithiasis, Derma... |
OMIM:619698 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Knee flexion contracture, Increased density of long bone diaphyses, High ... |
OMIM:305620 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral clavicle... |
OMIM:617895 |
| Achondrogenesis, Type Ib |
|
Inguinal hernia, Micromelia, Stillbirth, Narrow chest, Short ribs, Absent or minimally ossified v... |
OMIM:600972 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Bilateral... |
ORPHA:508488 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly... |
OMIM:603194 |
| Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Cleft palate, Ver... |
ORPHA:96061 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... |
ORPHA:263665 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Short neck, Multiple joint dislocation, Hip dislocation, Thin ribs, Irregular vertebral endplates... |
OMIM:618395 |
| Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Patent ductus arteriosus, Velophar... |
OMIM:613680 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hepatoblastoma, Smal... |
ORPHA:96334 |
| Achondrogenesis Type 1B |
|
Femoral hernia, Micromelia, Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow... |
ORPHA:93298 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal... |
OMIM:216360 |
| Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia |
OMIM:615935 |
| Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Abnormal sacrum morphology, Aplasia/Hypoplasia of... |
ORPHA:1926 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Pectus ... |
ORPHA:958 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Unilateral renal agenesis |
OMIM:618504 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Hypospadias, Overlapping toe, Unilateral renal agenesis, Proximal placement of t... |
ORPHA:487796 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia st... |
OMIM:305600 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Paten... |
OMIM:192350 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Short neck, Flexion contracture, Micropenis, Pterygium, Short phalanx of finger, ... |
OMIM:263650 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Aplasia/Hypoplasia of the tongue, Missing ribs, Abnormal rib morphology, Hemivert... |
ORPHA:2759 |
| Becker Nevus Syndrome |
|
Lipoatrophy, Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectu... |
ORPHA:64755 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormality of the ure... |
ORPHA:52 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... |
OMIM:208540 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
2-5 finger syndactyly, Prominent metopic ridge, Multiple joint contractures, Hypospadias, Camptod... |
ORPHA:468631 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal cord compression, Vertebral fusion, Spinal instability |
OMIM:251250 |
| Hypophosphatasia, Infantile |
|
Death in infancy, Elevated urine pyrophosphate, Micromelia, Bowing of the legs, Craniosynostosis,... |
OMIM:241500 |
| Mucopolysaccharidosis, Type Ivb |
|
Metaphyseal widening, Flaring of rib cage, Chondroitin sulfate excretion in urine, Hyperlordosis,... |
OMIM:253010 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Gastroesophageal reflux, Micropenis, Hypospadias, Cleft soft palate, Tapered finger, Scoliosis, H... |
ORPHA:268261 |
| Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Patellar apla... |
ORPHA:2842 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Ren... |
ORPHA:2167 |
| Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Genu valgum, Macroglossia, Mucopolysacchariduria, H... |
ORPHA:583 |
| 3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Hypospadias, Rocker bottom ... |
ORPHA:2616 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Split foot, Cutan... |
DECIPHER:46 |
| Recombinant 8 Syndrome |
|
Abnormality of the kidney, Camptodactyly of finger, Pectus excavatum, Patent ductus arteriosus, P... |
ORPHA:96167 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... |
OMIM:173800 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
| Pallister-Hall Syndrome |
|
Ectopic kidney, Hemivertebrae, Renal cyst, Anteriorly placed anus, Neonatal death, Micropenis, Di... |
OMIM:146510 |
| Fraser Syndrome |
|
Encephalocele, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias,... |
ORPHA:2052 |
| Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Gastrointestinal dysmotili... |
OMIM:270400 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Proteinuria, Intestinal malrotation, Congenital diaphragmatic hernia, Non-acidotic p... |
OMIM:222448 |
| Pallister-Hall Syndrome |
|
Ectopic kidney, Hemivertebrae, Micropenis, Bifid uvula, Mesoaxial polydactyly, Radial bowing, Hyp... |
ORPHA:672 |
| Dextrocardia |
|
Meckel diverticulum, Congenital hip dislocation, Intestinal malrotation, Abnormality of the splee... |
ORPHA:1666 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Abnormality of the epiphysis of the femoral head, Short neck, Metap... |
ORPHA:485 |
| Spinal Arteriovenous Metameric Syndrome |
|
Abnormality of the kidney, Kyphoscoliosis, Cutaneous angiolipomas, Abnormal spinal cord morpholog... |
ORPHA:53721 |
| Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Bilateral cleft palate, Unilateral renal agenesis, Absent thumb, Unilater... |
OMIM:614900 |
| Exstrophy-Epispadias Complex |
|
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... |
ORPHA:322 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short neck, Missing ribs, Coronal hypospadias, Esophageal atresia, Tracheoesophageal fistula, Lum... |
OMIM:619859 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx... |
ORPHA:2839 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
| Seckel Syndrome 8 |
|
Spinal cord compression, Kyphoscoliosis, Ectopic kidney |
OMIM:615807 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Hyperlordosis, Abnormal rib morphology, Tracheoesophageal fistula, Pectus ca... |
ORPHA:3068 |
| Holoprosencephaly |
|
Encephalocele, Omphalocele, Hypoplasia of penis, Median cleft lip and palate, Proteinuria, Congen... |
ORPHA:2162 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... |
OMIM:608940 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Macroglossia, Wormian bones, Congenital hip dislocation |
OMIM:614450 |
| Okamoto Syndrome |
|
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tethered cord, Prominent metopic ri... |
ORPHA:2729 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mal... |
ORPHA:1225 |
| Autosomal Dominant Cutis Laxa |
|
Inguinal hernia, Wormian bones, Genu recurvatum, Unilateral renal agenesis, Hip dislocation, Pyel... |
ORPHA:90348 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Renal hypoplasia/aplasia, M... |
ORPHA:3186 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Clinodactyly of the 5th finger, Axial malrotation of the kidney, Genu varum, Finger syndactyly, A... |
ORPHA:3320 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Death in infancy, Multicystic kidney dysplasia, Hydroureter, Abnormality of the gast... |
ORPHA:2241 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Short neck, Glossoptosis, Vertebral segmentation defect, High palate, Hypospa... |
OMIM:611209 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Inguinal hernia, Micromelia, Proximal placement of thumb, Kyphos... |
ORPHA:3121 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Ectopic kidney, Renal cyst, Anteriorly placed anus, Glossoptosis, Hig... |
OMIM:117650 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Abnormality of the kidney, Kyphosis, Abnormal spinal co... |
ORPHA:1724 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Multiple pterygia, Symphalangism affecting the phalanges of the hand, Abnorm... |
ORPHA:2990 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Bruck Syndrome 2 |
|
Inguinal hernia, Wormian bones, Flexion contracture, Elbow flexion contracture, Femoral bowing, P... |
OMIM:609220 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Short neck, Lobulated tongue, Syndactyly, Patent ductus arteriosus, Post... |
OMIM:249000 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Kyphosis, Flexion contracture |
OMIM:618237 |
| Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Mye... |
ORPHA:2437 |
| Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Heparan sulfate excretion in urine, Ovoid thoracolumbar vertebrae... |
OMIM:252930 |
| Marden-Walker Syndrome |
|
Inguinal hernia, Hypospadias, Arachnodactyly, Short neck, Kyphosis, High, narrow palate, Pyloric ... |
OMIM:248700 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Coxa vara, Pectus carinatum, High palate, Wrist flexion contracture, Deat... |
ORPHA:800 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... |
ORPHA:175 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Abnormal thorax morphology, Neonatal death, Arthrogryposi... |
OMIM:253310 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Pectus excavatum, Cubitus valgus, Patent ductus arteriosu... |
OMIM:104350 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Capitate-hamate fusion, Short toe, Limited elbow extension, R... |
OMIM:614078 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Ulnar deviation of the wrist, Pectus excavatum, 2-3 toe syndactyly, Delayed pubic bone ossificati... |
OMIM:618162 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Absence of the sacrum, Congenital hip dislocation, Renal agenesis, Block vertebrae, ... |
OMIM:306955 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly |
OMIM:214300 |
| Holzgreve Syndrome |
|
Hand polydactyly, Cleft palate, Cleft upper lip |
OMIM:236110 |
| Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Spina bif... |
OMIM:607323 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology, Hypospadias |
ORPHA:276422 |
| Distal Deletion 10P |
|
Hypoplasia of penis, Short neck, Abnormality of the elbow, Cleft palate, Ectopic anus, Clinodacty... |
ORPHA:1580 |
| Pseudoachondroplasia |
|
Genu recurvatum, Spatulate ribs, Metaphyseal widening, Osteoarthritis, Cervical cord compression,... |
OMIM:177170 |
| Alg9-Cdg |
|
Omphalocele, Hypoplasia of the bladder, Villous atrophy, Ulnar deviation of the hand, Rhizomelia,... |
ORPHA:79328 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Abnormality of the upper urinary tract, Micromelia, Abnormality of the urethra... |
ORPHA:2145 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Hypoplastic nipples,... |
OMIM:603543 |
| Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Vert... |
OMIM:108720 |
| Charge Syndrome |
|
Hemivertebrae, Hand monodactyly, Micropenis, Hypoplasia of the ulna, Short thumb, Esophageal atre... |
OMIM:214800 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid proce... |
OMIM:300232 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Femoral hernia, Micromelia, Short neck, Short thorax, Short foot, Narrow ... |
ORPHA:93299 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Death in infancy, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, I... |
OMIM:243150 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Hypoplasia of the radius, Cleft palat... |
ORPHA:245 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Ectopic kidney, 2-3 toe syndactyly, Cleft palate, Abnormality of the vertebral column, Short 5th ... |
OMIM:239800 |
| Cat Eye Syndrome |
|
Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Absent radius, Patent duct... |
OMIM:115470 |
| Renpenning Syndrome |
|
Hypospadias, Pectus excavatum, Abnormal thumb morphology, High, narrow palate, Abnormal rib morph... |
ORPHA:3242 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Bowing of the legs, ... |
OMIM:200600 |
| Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Kyphosis, Flexio... |
ORPHA:90324 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Short neck, Hemivertebrae, Finger clinodactyly, High palate, Spi... |
ORPHA:99776 |
| Joint Laxity, Short Stature, And Myopia |
|
Inguinal hernia, Cervical kyphosis, Kyphoscoliosis, Multiple joint dislocation, Pectus carinatum,... |
OMIM:617662 |
| Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... |
OMIM:216800 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Unilateral renal agenesis, Bilateral renal ... |
ORPHA:500150 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck |
ORPHA:1486 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Abnormally ossified vertebrae, Missing ribs, Abnormal rib morpholog... |
ORPHA:3301 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlarge... |
OMIM:260400 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Gastroesophageal reflux, Microgastria, Multicystic kidney dysplasia, ... |
ORPHA:2538 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Abnormal spinal cord morphology, Flexion contracture,... |
ORPHA:99947 |
| 15Q24 Microdeletion Syndrome |
|
Hypospadias, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphol... |
ORPHA:94065 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Ureteral duplication, Hypospadias, Arachnodactyly, Abnormal dental enamel morph... |
ORPHA:96169 |
| Smith-Magenis Syndrome |
|
Toe syndactyly, Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormal localization of kid... |
ORPHA:819 |
| Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, Pectus excavatum, Cleft palate, Pectus carinatum, High palate, Cervical ribs |
OMIM:609654 |
| Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnormal rib morpho... |
ORPHA:2876 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Wide-cupped costochondral... |
OMIM:187600 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Diastasis recti, Large placenta, Coat hanger sign of ribs, Umbilical hernia, Thoraci... |
ORPHA:254534 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the legs, Pectus excavatum, M... |
OMIM:608728 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Abnormality of the ureter, Genu valgum, High palate, Umbi... |
ORPHA:1035 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, High palate, Unilateral renal agenesis |
OMIM:308750 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Abnormality of the kidney, Renal agenesis, Arachnodactyly, Aganglionic megacolon, Ky... |
ORPHA:261222 |
| Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal spinal cord morphology, Abnormal form of the verte... |
ORPHA:83468 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones... |
OMIM:614091 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
| Gm1-Gangliosidosis, Type I |
|
Death in infancy, Inguinal hernia, Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bo... |
OMIM:230500 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Craniosynostosis, Unilateral renal agenesis |
ORPHA:1064 |
| Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Pilonidal sinus, Femoral hernia, Inguinal hernia, Unilatera... |
OMIM:188400 |
| Sacral Defect With Anterior Meningocele |
|
Back pain, Absence of the sacrum, Neurogenic bladder, Hemisacrum, Myeloschisis, Tethered cord, My... |
OMIM:600145 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Macroglossia, Umbilical hernia |
OMIM:275100 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Neurogenic bladder, Tethered cord, Inguinal hernia, Short neck, Pectus excavatu... |
OMIM:130720 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, D-2... |
ORPHA:99646 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Tapered finger, Short toe, Abnormal renal morphology, Cleft palate, Anteri... |
OMIM:239300 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Inguinal hernia, Tethered cord, Myelomeningocele, Scoliosis, Contracture of the proximal interpha... |
OMIM:620141 |
| White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... |
ORPHA:2475 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... |
ORPHA:251992 |
| Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Widely-spaced maxillary central i... |
OMIM:601349 |
| Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Death in infancy, Omph... |
ORPHA:991 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib... |
ORPHA:73230 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Camptodactyly of finger, Short neck, Abnormality ... |
ORPHA:93473 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Unilateral renal agenesis, Ectopic kidney, Clinodactyly, Renal hypoplasia, Limb ... |
OMIM:616541 |
| Classical Ehlers-Danlos Syndrome |
|
Inguinal hernia, Phalangeal dislocation, Hiatus hernia, Incisional hernia, Rectal prolapse, Cigar... |
ORPHA:287 |
| Fanconi Anemia, Complementation Group R |
|
Tethered cord, Radial dysplasia, Absent thumb, Scoliosis, Pelvic kidney, Anal atresia |
OMIM:617244 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Horizo... |
ORPHA:239 |
| Scarf Syndrome |
|
Inguinal hernia, Diastasis recti, Craniosynostosis, Short neck, Hepatocellular adenoma, Abnormal ... |
ORPHA:3134 |
| Prune Belly Syndrome |
|
Hydroureter, Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Xerostomia, ... |
OMIM:100100 |
| Occipital Horn Syndrome |
|
Short humerus, Persistent open anterior fontanelle, Broad clavicles, Pectus excavatum, Kyphosis, ... |
OMIM:304150 |
| Diphallia |
|
Ureteral duplication, Epispadias, Hemivertebrae, Duplicated colon, Bladder exstrophy, Renal dupli... |
ORPHA:227 |
| Aredyld Syndrome |
|
Lipoatrophy, Abnormal dental enamel morphology, Abnormality of the ureter, Scoliosis, Brachydactyly |
ORPHA:1133 |
| Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Renal hypoplasia/aplasia, Anencephaly, Abnormal f... |
ORPHA:1590 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hernia, Abnormal rectum morphology, Abnormality of the lower urinary tract, Hiatus hernia |
ORPHA:101009 |
| Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morpho... |
ORPHA:2357 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Craniosynostosis, Bilateral cryptorchidism, Pyloric stenosis, Pectus excavatum, High palate |
ORPHA:314575 |
| Williams Syndrome |
|
Hypoplasia of penis, Rectal prolapse, Abnormal form of the vertebral bodies, Abnormal tubulointer... |
ORPHA:904 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Short tubular bones of the hand, Cleft... |
OMIM:200610 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th... |
ORPHA:93324 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Micropenis, Dupl... |
OMIM:268310 |
| Cdags Syndrome |
|
Hypospadias, Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula, Ky... |
OMIM:603116 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Pyloric stenosis |
ORPHA:664 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Spinal cord compression, Flared metaphysis, Glossoptosis, Platyspo... |
ORPHA:93346 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia |
ORPHA:1046 |
| Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... |
ORPHA:464329 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... |
ORPHA:2978 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Gastroesophageal reflux, Cervical cord compression, Hypoplastic cervical verte... |
ORPHA:79345 |
| Kniest Dysplasia |
|
Hip contracture, Inguinal hernia, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Short n... |
OMIM:156550 |
| Fanconi Anemia, Complementation Group B |
|
Death in infancy, Renal agenesis, Short neck, Absent thumb, Esophageal atresia, Patent ductus art... |
OMIM:300514 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Glossoptosis, Barrel-shaped chest, Abnormally ossi... |
ORPHA:94068 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas ... |
ORPHA:449432 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia,... |
OMIM:601163 |
| Marden-Walker Syndrome |
|
Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, Abnormal penis ... |
ORPHA:2461 |
| Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Anterior beaking of lumbar ver... |
OMIM:253220 |
| Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Kyphosis, Narrow chest, Scoliosis, Anal atresia |
OMIM:182210 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Esophageal atresia, Patent ductus arteriosus,... |
ORPHA:77298 |
| Currarino Syndrome |
|
Absence of the sacrum, Neurogenic bladder, Hemisacrum, Recurrent urinary tract infections, Urinar... |
OMIM:176450 |
| Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... |
ORPHA:63260 |
| Codas Syndrome |
|
Short metacarpal, Hydroureter, Congenital hip dislocation, Abnormal dental enamel morphology, Abn... |
ORPHA:1458 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Congenital hip dislocation, Ulnar deviation of the 3rd finger, Proximal placement o... |
ORPHA:456312 |
| Anauxetic Dysplasia 3 |
|
Short metacarpal, Thoracolumbar kyphoscoliosis, Pectus excavatum, Metaphyseal cupping, Spinal cor... |
OMIM:618853 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
| Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Thickened ribs, Ovoid thoracolumbar vertebrae |
OMIM:252920 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Hydroureter, Aganglionic megacolon, Abnormality of the kidney, Abno... |
ORPHA:2273 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hydranencephaly, Spina bifida, Kyphosis, Myelomen... |
ORPHA:1393 |
| Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
| Xylt1-Cdg |
|
Joint dislocation, Hepatomegaly, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Th... |
ORPHA:370930 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo... |
OMIM:225500 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
| Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P... |
OMIM:224690 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Anal stenosis, Lumbar hyperlordosis, Aganglionic megacolon, Flaring of low... |
OMIM:250250 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Overlapping toe, Rocker bottom foot, Tapered finger, 4-5 toe syndactyly, Annular... |
ORPHA:488642 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Abnormality of the parathyroid gland, Non-m... |
ORPHA:3429 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Cleft palate, Fl... |
ORPHA:1856 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of... |
ORPHA:1507 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Micropenis, High palate, Unilateral renal agenesis |
OMIM:308700 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypop... |
ORPHA:2643 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
| Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Prominent floating ribs, Malabsorption |
OMIM:152800 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Sprengel anomaly, Gastroesophagea... |
OMIM:134780 |
| Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femoral bowing, ... |
OMIM:620076 |
| Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal ... |
OMIM:113500 |
| Oculoskeletodental Syndrome |
|
Renal agenesis, Elbow flexion contracture, Hypercalciuria, Macroglossia, Abnormal sternum morphol... |
OMIM:618440 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... |
OMIM:178110 |
| Distal Deletion 10Q |
|
2-3 toe cutaneous syndactyly, Functional abnormality of the bladder, Short metatarsal, High palat... |
ORPHA:96148 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Tethered cord, Submucous cleft hard palate, Renal hypoplasia, Spinal dysra... |
OMIM:617660 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Renal cyst, Pectus carinatum, Coxa vara, Vertebral segmentation defect, Clinodactyly ... |
OMIM:272460 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Flat capital femoral ... |
OMIM:147891 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Inguinal hernia, Delayed closure of th... |
OMIM:303600 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Pectus excavatum, Patent ductus arteriosu... |
OMIM:615398 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ri... |
ORPHA:163966 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Ventral hernia, Thoracic scoliosis, Inguinal hernia, Short neck, Facet joint arthr... |
OMIM:618000 |
| Mucopolysaccharidosis, Type Vi |
|
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging o... |
OMIM:253200 |
| Microphthalmia, Syndromic 1 |
|
High, narrow palate, Rectal prolapse, High palate, Narrow chest, Prominent fingertip pads, Syndac... |
OMIM:309800 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Axial ... |
OMIM:274000 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Abnormal dental enamel morphology, T... |
ORPHA:1452 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Pectus excavatum, Postaxial polydac... |
OMIM:258860 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Metaphyseal dysplasia, Brachydactyly, Death in infancy, Kyphoscoliosis, Coxa valga, Pectus excava... |
OMIM:617425 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
| Cerebrofaciothoracic Dysplasia |
|
Short neck, Rib fusion, Hemivertebrae, Cleft palate, Vertebral segmentation defect, Narrow chest,... |
ORPHA:1394 |
| Zaki Syndrome |
|
Sacral dimple, Toe syndactyly, Renal agenesis, Congenital diaphragmatic hernia, Long fingers, Pat... |
OMIM:619648 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... |
ORPHA:1517 |
| Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Small ... |
OMIM:244460 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Short phala... |
ORPHA:1826 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Bilateral cleft palate, Syndactyly, Prominent metopic ridge, Overlapping toe, ... |
OMIM:605039 |
| Myhre Syndrome |
|
Abnormal penis morphology, Inguinal hernia, Hypospadias, Femoral hernia, Epispadias, Submucous cl... |
ORPHA:2588 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Arachnodactyly, Kyphoscoliosis, Pectus excavatum, Methioninuria, Pectus carinatu... |
OMIM:236200 |
| Van Maldergem Syndrome 1 |
|
Sacral dimple, Short fourth metatarsal, Hypospadias, Wide cranial sutures, Radial head subluxatio... |
OMIM:601390 |
| Lateral Meningocele Syndrome |
|
Inguinal hernia, Prominent metopic ridge, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, ... |
ORPHA:2789 |
| Cole-Carpenter Syndrome 2 |
|
Wide cranial sutures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, High palate, Lambdoid... |
OMIM:616294 |
| Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Wormian bones, Tapered finger, Patent ductus arteriosus, Flat acetabular roo... |
OMIM:617159 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Abnormality of the ankle, Carpal s... |
ORPHA:2010 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Inguinal hernia, Renal agenesis, Femoral hernia, Spina bifida, Renal hypop... |
ORPHA:3412 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Sacral dimple, Short metacarpal, Brachydactyly, Tethered cord... |
OMIM:617157 |
| Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Short ... |
OMIM:164280 |
| Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu... |
OMIM:612921 |
| Osteogenesis Imperfecta, Type Ii |
|
Wormian bones, Beaded ribs, Thin ribs, Bell-shaped thorax, Tibial bowing, Platyspondyly, Limb und... |
OMIM:166210 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Pectus carinatum, Tibial bowing, High palate, Abnormal vertebral morpholog... |
ORPHA:93315 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Hemivertebrae, Knee flexion contracture, Anteriorly plac... |
OMIM:151050 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Omphalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Renal hypop... |
ORPHA:2166 |
| Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Narrow chest,... |
OMIM:215140 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Cleft palate, Methylmalonic aciduria, Glossitis, Unilateral renal agenesis |
ORPHA:79284 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Short thorax, Abnormal carpal morphology, Cleft p... |
ORPHA:85166 |
| Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Cleft palate, Cleft upper lip |
OMIM:614402 |
| Cole-Carpenter Syndrome |
|
Bowing of the long bones, Abnormal dental enamel morphology, Kyphosis, Abnormal rib morphology, A... |
ORPHA:2050 |
| Dysosteosclerosis |
|
Sclerotic scapulae, Delayed closure of the anterior fontanelle, Increased intervertebral space, A... |
OMIM:224300 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Hypospadias, Jejunal atresia, Kyphoscoliosis, Ileal atresia, Chordee, Mi... |
OMIM:618820 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Inguinal hernia, Hyperlordosis, Short neck, Short thorax, Abnormal form of the vertebral bodies, ... |
ORPHA:3218 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout, Inflammation of the large int... |
OMIM:232220 |
| Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Femoral bowing, Thin ribs, Biconcave vertebral bodies, Wormian bones, U... |
OMIM:617952 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Renal cyst, Gastroesophageal reflux, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:1606 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Spin... |
OMIM:109400 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Renal hypoplasia/aplasia, Patent ductus arteriosus, Midshaft hypospadias... |
ORPHA:2863 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Proximal placement of thumb... |
OMIM:616263 |
| Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Tracheoesophageal fistula, Rectovagin... |
ORPHA:1780 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Death in infancy, Inguinal hernia, Sandal gap, Morgagni diap... |
OMIM:613177 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Anteriorly placed anus, Renal agenesis, Unilateral renal agenesis, Rectovaginal fistula |
OMIM:608980 |
| Scarf Syndrome |
|
Barrel-shaped chest, Inguinal hernia, Diastasis recti, Short neck, Abnormal form of the vertebral... |
OMIM:312830 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ... |
OMIM:600002 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
| Lowe-Kohn-Cohen Syndrome |
|
Nephropathy, Anorectal anomaly, Anal atresia |
ORPHA:2408 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Flexion contracture, Multi... |
OMIM:619503 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Neonatal death, Patent ductus arteriosus, Metopic synostosis, Unilateral renal agenesis |
OMIM:620024 |
| Microphthalmia, Lenz Type |
|
Abnormal clavicle morphology, Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finge... |
ORPHA:568 |
| Williams-Beuren Syndrome |
|
Rectal prolapse, Flexion contracture, Nephrocalcinosis, Gastroesophageal reflux, Clinodactyly of ... |
OMIM:194050 |
| Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Death in infancy, Wide cranial sutures, Rhizomelia, Protrusio acetabuli, ... |
OMIM:610682 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Inguinal hernia, Recurrent joint dislocation, Cervical kyphosis, Kyphoscoliosis, Tapered finger, ... |
ORPHA:2953 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, High palate, Gast... |
OMIM:182212 |
| Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Aplasia of the proximal phalanges o... |
ORPHA:2369 |
| Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Short neck, Mesomelic/rhizomelic limb shortening, Flared metaphysis, Cleft ... |
ORPHA:2347 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Cleft lip, Cleft palate |
OMIM:612370 |
| Desbuquois Dysplasia 2 |
|
Dental crowding, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short ph... |
OMIM:615777 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short neck, Cleft palate, Ectopic anu... |
ORPHA:2994 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Kyphosis, Tibial bowing, Thin ribs, Scoliosis, Wormian bones, Biconcave vert... |
OMIM:259420 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Postaxial hand polydactyly, Cleft palate,... |
OMIM:607361 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Coxa valga, Short tubular bones of the hand, Vertebral arch anomaly, Abnormal diaphysis morpholog... |
ORPHA:85184 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Cleft palate, Genu valgum, Small pituitary gland, Decreased testicular size |
OMIM:614880 |
| Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinar... |
ORPHA:191 |
| Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lower thoracic vertebrae, Inguinal hernia, Short neck, Metatarsus adductus, E... |
ORPHA:584 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... |
OMIM:619636 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Inguinal hernia, Prominent metopic ridge, Arachnodactyly, Camptodactyly of fin... |
ORPHA:2215 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Inguinal hernia, Arachnodactyly, Hypospadias, Thoracolumbar scoliosis, Overlapping toe, Metatarsu... |
ORPHA:436003 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micromelia, Anisospondyly, Talipes equinovarus... |
OMIM:224410 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Sacral dimple, Broad toe, Hypospadias, Inguinal hernia, Abnormal large intesti... |
ORPHA:93932 |
| Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Renal cyst, Tibial bowing, Anteriorly placed anus, High... |
ORPHA:798 |
| 3Mc Syndrome 2 |
|
Hypospadias, Diastasis recti, Limited elbow movement, Partial abdominal muscle agenesis, Craniosy... |
OMIM:265050 |
| Hypophosphatasia |
|
Bowing of the long bones, Craniosynostosis, Abnormality of the dentition, Abnormal rib morphology... |
ORPHA:436 |
| Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Camptodactyly of finger, Abnorma... |
ORPHA:3138 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Ren... |
OMIM:601803 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... |
OMIM:175200 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Rhizomelia, Beaded ribs, Pla... |
OMIM:616229 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Antecubital pterygium, Fused cervical ve... |
OMIM:618469 |
| Neurofaciodigitorenal Syndrome |
|
Pectus excavatum, Abnormality of the elbow, Unilateral renal agenesis |
ORPHA:2673 |
| Hereditary Chronic Pancreatitis |
|
Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Ab... |
ORPHA:818 |
| Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
| Meckel Syndrome, Type 5 |
|
Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo... |
OMIM:611561 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Short neck, Hypertrophy of the urinary bladder, High palate, Narrow chest, Gastroesophageal reflu... |
ORPHA:280633 |
| Mucolipidosis Ii Alpha/Beta |
|
Metaphyseal widening, Death in childhood, Thoracolumbar kyphoscoliosis, Hypoplasia of the odontoi... |
OMIM:252500 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Cleft palate, Thin ribs, Vesicoureteral reflux, Arthrogryposis multiplex congen... |
OMIM:618265 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleedin... |
ORPHA:424019 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Kyphosis, Femoral bowing, Tibial bowing, ... |
OMIM:616482 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen... |
OMIM:616100 |
| Aceruloplasminemia |
|
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,... |
ORPHA:48818 |
| Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, Hi... |
OMIM:617063 |
| Arthrogryposis Multiplex Congenita 5 |
|
11 pairs of ribs, Death in infancy, Inguinal hernia, Rocker bottom foot, Kyphoscoliosis, Short ne... |
OMIM:618947 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Villous atrophy, Sideroblastic anemia, Pancreatic fibrosis, Pancytopenia, Malabsorp... |
OMIM:557000 |
| Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Short neck, Anteriorly placed anus, Prominent fingertip pads, Syndac... |
OMIM:305450 |
| Osteogenesis Imperfecta |
|
Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Ab... |
ORPHA:666 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Arachnodactyly, Sandal gap, Intestinal malrotation, Pectus excavatum, Kyphosis, Cong... |
OMIM:617602 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Patellar hypoplasia, Pectus carina... |
OMIM:114290 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Abnormal rib morphology, Micromelia |
ORPHA:2772 |
| Cornelia De Lange Syndrome 1 |
|
Micromelia, Ectopic kidney, Short neck, Proximal placement of thumb, High, narrow palate, Congeni... |
OMIM:122470 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Hypospadias, Glandular hypospadias, Thin ribs, High palate, Neonatal death, Mic... |
OMIM:300219 |
| Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Patent... |
OMIM:313850 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Dumbbell-shaped long bone, Metaphyseal widening, Cleft palate,... |
ORPHA:440354 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
| Elsahy-Waters Syndrome |
|
Anal stenosis, Hypospadias, Pectus excavatum, Abnormality of the anus, Shortening of all phalange... |
OMIM:211380 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hypospadias, Missing ribs, Esophageal atresia, Patent ductus arteriosus, Rib fu... |
OMIM:206900 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Spinal rigidity, Pectus excavatum, Kyphosi... |
OMIM:620351 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Renal cyst |
OMIM:614870 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Hyperlordosis, Abnormality ... |
ORPHA:3253 |
| Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Narrow mouth, Abnormal rib morphology,... |
ORPHA:83 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis, Clinodactyly, Radial deviation of finger, Thrombocytopenia |
OMIM:188025 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... |
OMIM:605282 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Bowing of the legs, Metaphyseal widening, Premature osteoarthritis, Fi... |
ORPHA:93352 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Anal atresia, Postaxial polydactyly, Short neck, Lateral clavicle hook, Hamartoma of tongue, Esop... |
OMIM:617925 |
| Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of... |
ORPHA:857 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Inguinal hernia, Aganglionic megacolon, Hydronephrosis, Anal atresia |
OMIM:235760 |
| Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Intestinal malrotation, Unilateral renal agenesis, Short hallux, Stage... |
OMIM:620305 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Polydactyly, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
| Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Inguinal hernia, Short neck, Heparan sulfate... |
OMIM:252940 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Broad hallux, Sandal gap, Cleft soft palate, Mesomelia, Camptodactyl... |
OMIM:618529 |
| Apert Syndrome |
|
Limited elbow movement, Pectus carinatum, Cutaneous finger syndactyly, Broad distal phalanx of th... |
OMIM:101200 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo... |
OMIM:211350 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Abnormality of t... |
ORPHA:1307 |
| Kinsship Syndrome |
|
Death in infancy, Sacral dimple, Short neck, Coxa valga, Hip dislocation, Renal hypoplasia, Horse... |
OMIM:619297 |
| X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Trapezoidal distal femoral condyles, Enthesitis, Vertebral hyper... |
ORPHA:89936 |
| Hajdu-Cheney Syndrome |
|
Short neck, Renal cyst, High palate, Dislocated radial head, Hypospadias, Patent ductus arteriosu... |
OMIM:102500 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... |
OMIM:271640 |
| Mohr Syndrome |
|
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ... |
OMIM:252100 |
| Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodies, Macroglossia, Platyspondyly, Urin... |
ORPHA:79255 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Short neck, Neonatal death, Hand clenching, Arthrogryposis multiplex congenita |
OMIM:616342 |
| Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Tarsal synostosis, Aplastic clavicle, Abnormal dental ... |
ORPHA:85199 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Lip pit, Cryptorchidism, Non-midline... |
ORPHA:1300 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Sacral dimple, Prominent metopic ridge, Overlapping toe, Postaxial polydactyly, Tapered finger, A... |
OMIM:613792 |
| Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces... |
OMIM:258480 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... |
OMIM:263200 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Anal atresia, Gastroesophageal reflux, Scoliosis |
ORPHA:3164 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... |
ORPHA:2237 |
| Jacobsen Syndrome |
|
Missing ribs, Pectus excavatum, Cryptorchidism, Pyloric stenosis, Clinodactyly of the 5th finger,... |
OMIM:147791 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Absent thumb, Absent radius, Cryptorchidism, Esophageal atresia, Thrombocytopenia, ... |
OMIM:227646 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Diaphyseal sclerosis, Death in adolescence |
OMIM:122860 |
| Aspergillosis |
|
Abnormality of the vertebral column, Abnormal rib morphology, Abnormality of the kidney, Abnormal... |
ORPHA:1163 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Cupped ribs, Metaphyseal widening, F... |
OMIM:250420 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology... |
ORPHA:2908 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Sacral dimple, Hypospadias, Abnormal dental enamel morphology, Congeni... |
ORPHA:2556 |
| Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Optic nerve dysplasia, Re... |
ORPHA:1475 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Cleft palate, Non-midline cleft lip, Lip pit |
ORPHA:1072 |
| Trisomy 8Q |
|
Camptodactyly of finger, Cryptorchidism, Non-midline cleft lip, Cleft palate, Orofacial cleft, Ab... |
ORPHA:1752 |
| Tarp Syndrome |
|
Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hypoplasia of the radius, Horseshoe ... |
OMIM:311900 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Scoliosis, Vesicoureteral reflux, Crossed fused renal ectopia,... |
OMIM:617466 |
| Wolf-Hirschhorn Syndrome |
|
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Hernia, Abnormal vertebra... |
ORPHA:280 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Bowing of the legs, Pectus carinatum, Abnormal calcification of the carpa... |
OMIM:271665 |
| Fg Syndrome 3 |
|
Cryptorchidism, Broad hallux, Pyloric stenosis, Broad thumb |
OMIM:300406 |
| Saul-Wilson Syndrome |
|
Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Pectus excavatum, Hypoplasia of... |
OMIM:618150 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Monosomy 9P |
|
Hypospadias, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Congenital... |
ORPHA:261112 |
| Muir-Torre Syndrome |
|
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Colon cancer, Adenoma se... |
ORPHA:587 |
| Noonan Syndrome 4 |
|
Pectus excavatum of inferior sternum, Ureteral duplication, Short neck, Pectus excavatum, Abnorma... |
OMIM:610733 |
| Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Rectal prolapse, Anal fissure, Stercoral ulcer |
ORPHA:209964 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Sacral dimple, Postaxial polydactyly, Tapered finger, Patent ductus arteriosus, Small hand, Hip d... |
OMIM:300968 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Ureteral duplication, Inguinal hernia, Prominent metopic ridge, Diastasis recti, Con... |
ORPHA:116 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly... |
ORPHA:381 |
| Craniometadiaphyseal Dysplasia |
|
Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, High palate, Scoliosis, Wormian bones... |
OMIM:269300 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Sagittal cranio... |
OMIM:610199 |
| Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph... |
OMIM:180860 |
| Van Den Ende-Gupta Syndrome |
|
Dental crowding, Glenoid fossa hypoplasia, Lateral clavicle hook, High, narrow palate, 2-3 toe cu... |
OMIM:600920 |
| Occipital Horn Syndrome |
|
High, narrow palate, Coxa vara, Pectus carinatum, Humerus varus, Gastroesophageal reflux, Narrow ... |
ORPHA:198 |
| Anus, Imperforate |
|
Ectopic anus, Hypospadias, Anal atresia |
OMIM:301800 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Cleft palate, Large hands, Umbilical hernia,... |
ORPHA:1770 |
| Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:614377 |
| Sirenomelia |
|
Absence of the sacrum, Spina bifida, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Sirenom... |
ORPHA:3169 |
| Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Clinodactyly, ... |
OMIM:301040 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Spinal cord compression, Osteoarthritis, Enamel... |
OMIM:307800 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypoplasia, Hand monodactyly,... |
OMIM:609945 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Glandular hypospadias, Thin ribs, Micropenis, Penile hypospadias, Penoscrotal hypospadias |
ORPHA:456328 |
| Aicardi Syndrome |
|
Intestinal polyposis, Block vertebrae, Missing ribs, Hiatus hernia, Malabsorption, Rib fusion, Sm... |
ORPHA:50 |
| Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, 3-4 finger cutaneous syndactyl... |
OMIM:181270 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Inguinal hernia, Femoral retroversion, Kyph... |
OMIM:610915 |
| Epidermal Nevus Syndrome |
|
Thoracolumbar scoliosis, Spinal cord compression, Atrophy of the spinal cord, Spinal canal stenos... |
ORPHA:35125 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroesophageal reflux, Glomerulopathy, Dea... |
ORPHA:534 |
| Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Ectopic anus |
ORPHA:1643 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Cryptorchidism, Congenital pyloric atresia |
ORPHA:2617 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocrine pancreas ... |
ORPHA:93111 |
| Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Short neck, Epispadias, Rib fusion, Vertebral arch anomaly, Cutaneo... |
OMIM:148050 |
| Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypoplastic spleen, Ankyloglossia, Bra... |
OMIM:602361 |
| Split Cord Malformation |
|
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl... |
ORPHA:573278 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Abnormal sacroiliac joint morphology, Anal atresia, Abnormality of the upper urinary tract |
ORPHA:1807 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Tethered cord, Sandal gap, Macrodactyly, Renal hypoplasia, Spinal dysraphism, Scoliosis, Lipoma, ... |
OMIM:612918 |
| Periventricular Nodular Heterotopia |
|
Pyloric stenosis, Shoulder dislocation, Gastroesophageal reflux, Patellar dislocation |
ORPHA:98892 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, ... |
ORPHA:3404 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Short neck, Missing ribs, Absent thumb, Absent radius, Humeroradial synostosis, Crani... |
OMIM:251230 |
| Restrictive Dermopathy 2 |
|
Rectal prolapse, Gastroesophageal reflux, Short clavicles |
OMIM:619793 |
| Raine Syndrome |
|
Death in infancy, Bowing of the long bones, Hydroureter, Micromelia, Short neck, Pectus excavatum... |
OMIM:259775 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Toe syndactyly, Craniosynostosis, 4-5 toe syndactyly, 3-5... |
OMIM:300707 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Inguinal hernia, Hypospadias, Pectus excavatum, Kyphosis, High palate, Radial deviation of finger... |
OMIM:609944 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Ectopic kidney, High palate, Gastroesophageal reflux, Clinodactyly of the 5th finger, Bifid uvula... |
OMIM:607872 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Neonatal death, Death in infancy, Organic aciduria |
OMIM:617184 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Joint dislocation, Gastrointestinal hemorrhage, Inguinal hernia, Congenital hip dislocation, Arac... |
OMIM:225400 |
| Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Pyloric ste... |
ORPHA:379 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Multicystic kidney dysplasia, Brachydactyly, Kyphoscoliosis... |
ORPHA:97360 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Thoracic kyphosis, Short palm, Clinodactyly of the 5th finger, Th... |
ORPHA:508498 |
| External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Pyloric stenosis, Congenital hip dislocation, Short 5th finger, Rocker bottom foot |
OMIM:133705 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Cloacal abnormality, Rectal fistula, Atrophy of the spinal c... |
ORPHA:49 |
| Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Short neck, Cleft palate, Shield chest, Cubitus valgus, Brachydactyly |
ORPHA:247768 |
| Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Syndactyly, Hypospadias, Short thumb, Abnormal thorax ... |
ORPHA:1708 |
| Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Functional abnormality of the bladder |
OMIM:300076 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Short neck, Patent ductus arteriosus, Protein-losing enteropathy, Talipes equin... |
OMIM:608104 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Hypoplasia of the ulna, Multiple small medullary renal cysts, Abnor... |
OMIM:118450 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... |
OMIM:150250 |
| 15q26 overgrowth syndrome |
|
Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Short neck, Tapered finger, ... |
DECIPHER:81 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Abnormal f... |
ORPHA:2769 |
| Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Postax... |
OMIM:267010 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Abnorm... |
ORPHA:2519 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Patent ductus arteriosus, Methylmalonic aciduria, Bell-shaped thorax, Gastroesop... |
OMIM:614857 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Sacral dimple, Tethered cord, Patent ductus arteriosus after premature birt... |
OMIM:618460 |
| Foix-Alajouanine Syndrome |
|
Back pain, Low back pain, Neurogenic bladder, Hyperintensity of MRI T2 signal of the spinal cord,... |
ORPHA:79093 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth tong... |
OMIM:601559 |
| Colonic Atresia |
|
Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia |
ORPHA:1198 |
| Aicardi Syndrome |
|
Block vertebrae, Hepatoblastoma, Proximal placement of thumb, Missing ribs, Hiatus hernia, Spina ... |
OMIM:304050 |
| Hadziselimovic Syndrome |
|
High palate, Renal hypoplasia, Anal atresia |
OMIM:612946 |
| Monosomy 9Q22.3 |
|
Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral col... |
ORPHA:77301 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
| Meckel Syndrome |
|
Accessory spleen, Bowing of the long bones, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue... |
ORPHA:564 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Prominent metopic ridge, Diastasis recti, Hepatoblastoma, Nephrolithiasis, Renal cor... |
OMIM:130650 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Inguinal hernia, Malabsorption, Heparan sulfate excretion in urine,... |
ORPHA:581 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, High palate, Apla... |
OMIM:276820 |
| Mesomelia-Synostoses Syndrome |
|
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Absent uvu... |
OMIM:600383 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,... |
OMIM:620369 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis, Overlapping toe, Camptodac... |
OMIM:614262 |
| Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Dysphagia |
OMIM:614688 |
| Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Clinodactyly of the 5th toe, Cr... |
ORPHA:264450 |
| Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Rena... |
ORPHA:480536 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Patent ductus art... |
ORPHA:1112 |
| Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Abnormality of the vertebral spinous processes, Ureteral stenos... |
ORPHA:1299 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Arachnodactyly, Pectus excavatum, Thin metatarsal cortices, Thin ribs, Lumbar hemivertebrae, High... |
ORPHA:2463 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Abnormal rib morphology, Small hand, Short foot, Micropenis, Spina bifida occulta, Br... |
ORPHA:488434 |
| Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
| Down Syndrome |
|
Sandal gap, Aganglionic megacolon, Renal hypoplasia/aplasia, Short neck, Protruding tongue, Narro... |
ORPHA:870 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Missing ribs, Aplasia/Hypoplasia of the distal pha... |
ORPHA:1647 |
| Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Ectopic kidney, Pectus excavatum, Short toe, Patent ductus arteri... |
ORPHA:1519 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad... |
ORPHA:512 |
| Trisomy 12P |
|
Short neck, Cleft palate, Large hands, Abnormality of the urinary system, Clinodactyly of the 5th... |
ORPHA:1699 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Rocker bottom foot, Short neck, Pectus excavatum, Patent ductus arteriosus, Short 2nd ... |
OMIM:612582 |
| Beta-Ureidopropionase Deficiency |
|
Anal atresia, Bladder exstrophy, Scoliosis |
OMIM:613161 |
| Fanconi Anemia |
|
Abnormal femur morphology, High palate, Triphalangeal thumb, Clinodactyly of the 5th finger, Fing... |
ORPHA:84 |
| Alveolar Echinococcosis |
|
Liver abscess, Abnormal pelvis bone morphology, Cholangitis, Portal hypertension, Eosinophilia, P... |
ORPHA:284 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Short neck, Tibial bowing, Hypoplasia of first ribs, Hepatoblastoma, Broad ribs, Micropenis, Uret... |
OMIM:269150 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, Metaphyseal spurs... |
ORPHA:85167 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Syndactyly, Inguinal hernia, Down-sloping shoulders, Pectus excavatum, Metatars... |
OMIM:227330 |
| Autosomal Dominant Centronuclear Myopathy |
|
Pyloric stenosis, Miscarriage, Urinary incontinence, Thin ribs |
ORPHA:169189 |
| Distal Deletion 12Q |
|
Unilateral cryptorchidism, Broad hallux, Overlapping toe, High, narrow palate, Pituitary adenoma,... |
ORPHA:96149 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Short middle phalanx of the 2nd finger, High, narrow palate,... |
OMIM:119600 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Cryptorchidism, Pyloric stenosis, Small hand, Cleft palate, Short foot, High palate, Clinodactyly... |
ORPHA:96184 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Long clavicles, Arachnodactyly, Overlapping toe, Contracture of the distal inter... |
ORPHA:83617 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Abnormal spinal cord morphology, Gastrointestinal dysmotility, Scoliosis, Camptodactyly... |
ORPHA:88628 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Metaphyseal chondrodysplasia, Abnormal rib morphol... |
ORPHA:93317 |
| 8P11.2 Deletion Syndrome |
|
Sacral dimple, Hypoplasia of penis, Patent ductus arteriosus, High palate, Talipes equinovarus, S... |
ORPHA:251066 |
| Severe Congenital Nemaline Myopathy |
|
Hypospadias, Increased connective tissue, Abnormal thorax morphology, Flexion contracture, Thin r... |
ORPHA:171430 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Death in infancy, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
| Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Coronal craniosynostosis, Small hand, Sagittal craniosynostosis |
OMIM:145420 |
| Alpha-Mannosidosis, Infantile Form |
|
Recurrent urinary tract infections, Thickened ribs, Craniosynostosis, Short neck, Pectus excavatu... |
ORPHA:309282 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Esophageal atresi... |
ORPHA:87 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Prominent metopic ridge, Ulnar deviation of the wrist, Pectus excavatum, Bilat... |
ORPHA:97297 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Abnormal phalange... |
ORPHA:90291 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Clinodactyly of the 5th finger, Pyloric stenosis, Hip dysplasia, Tapered finger |
OMIM:617219 |
| Cerebrofacioarticular Syndrome |
|
Syndactyly, Anal stenosis, Hypospadias, Renal hypoplasia, Anteriorly placed anus, Talipes equinov... |
ORPHA:314679 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida oc... |
OMIM:218600 |
| Aymé-Gripp Syndrome |
|
Inguinal hernia, Prominent metopic ridge, Proteinuria, Rocker bottom foot, Congenital diaphragmat... |
ORPHA:1272 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Intestinal perforation, Rectal prolapse, Colonic stenosis, Hemoglobinuria, Acute kidney i... |
ORPHA:90038 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Short neck, Short metatarsal, Renal cyst, High palate, Narrow chest, Nephro... |
OMIM:266920 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micromelia, Short neck, Aplasia of ... |
ORPHA:2879 |
| Tetrasomy 9P |
|
Joint dislocation, Short neck, High palate, Clinodactyly of the 5th finger, Micropenis, Bifid uvu... |
ORPHA:3310 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Patent ductus arteriosus |
OMIM:601927 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cleft upper li... |
OMIM:615849 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Congenital diaphragmatic hernia, Intestinal malrotation, Cleft palate |
OMIM:615524 |
| Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Patent ductus arteriosus, Spinal canal stenosis, Narrow palate, Scoliosis, ... |
OMIM:277600 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Anal atresia, Genu valgum |
ORPHA:1381 |
| Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... |
OMIM:142900 |
| Hydrolethalus Syndrome 1 |
|
Omphalocele, Hypospadias, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of p... |
OMIM:236680 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Cryptorchidism, Short thumb, Small hand, Anteriorly placed anus, Shor... |
OMIM:268400 |
| Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Reticulocytosis, Median cleft lip and palate, Pancreatic fibros... |
ORPHA:699 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Broa... |
OMIM:269500 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... |
ORPHA:70475 |
| Diamond-Blackfan Anemia 10 |
|
Congenital diaphragmatic hernia, Ectopic kidney, Morgagni diaphragmatic hernia, Patent ductus art... |
OMIM:613309 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Patent ductus arteriosus, Short metatarsal, Spinal canal ... |
OMIM:608328 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Hemolytic anemia, Gastritis, Splenomegaly, Mediastinal... |
ORPHA:809 |
| Renal Agenesis, Bilateral |
|
Renal agenesis, Abnormal sacrum morphology, Tracheoesophageal fistula, Cleft palate, Sirenomelia,... |
ORPHA:1848 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Foot acroosteolysis, Pe... |
OMIM:161700 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
| Pancreatic And Cerebellar Agenesis |
|
Pectus carinatum, Overlapping fingers, Pancreatic hypoplasia, Anemia, Pancreatic aplasia |
OMIM:609069 |
| Tetrasomy 12P |
|
Abnormal soft palate morphology, Anal atresia, Short neck |
ORPHA:884 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Inguinal hernia, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Heparan sulfate ... |
ORPHA:217085 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Pyloric stenosis, Syndactyly |
OMIM:226700 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Lateral clavicle hoo... |
ORPHA:3144 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias, Rocker bottom foot, Kyphoscoliosis, Limb joint contracture, Th... |
OMIM:275210 |
| Trisomy 18P |
|
Bilateral cryptorchidism, High, narrow palate, Abnormal finger morphology, Pyloric stenosis |
ORPHA:1715 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Broad ribs, Joint swelling, Flaring of rib cage, Fused cervical vertebrae |
OMIM:612852 |
| Cranioectodermal Dysplasia 2 |
|
Syndactyly, Renal insufficiency, Inguinal hernia, Rhizomelia, Craniosynostosis, Short neck, Pectu... |
OMIM:613610 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney |
OMIM:602200 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Death in adolescence, Aminoaciduria, Scoliosis, Death in childhood, Neonatal death |
OMIM:619055 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
| Kabuki Syndrome 1 |
|
Joint dislocation, Crossed fused renal ectopia, Anal stenosis, Congenital hip dislocation, Intest... |
OMIM:147920 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Inguinal hernia, Thickened ribs, Camptodactyly of finger, Diaphyseal thickening, Heparan sulfate ... |
ORPHA:217093 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Short ... |
OMIM:208150 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil... |
OMIM:614922 |
| Proboscis Lateralis |
|
Unilateral renal agenesis, Patent ductus arteriosus, Ureteral agenesis, Duplication of renal pelv... |
ORPHA:141099 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal intervertebral disk morphology, Micromelia, Short neck, Abnormal finger morphology, Abno... |
ORPHA:2636 |
| Cog1-Cdg |
|
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion,... |
ORPHA:263508 |
| Pai Syndrome |
|
Encephalocele, Nasal polyposis, Depressed nasal bridge, Midline defect of the nose, Iris coloboma |
ORPHA:1993 |
| Charge Syndrome |
|
Abnormal soft palate morphology, Abnormal tibia morphology, Patent ductus arteriosus, Abnormal ri... |
ORPHA:138 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Colon ... |
OMIM:174900 |
| Renpenning Syndrome 1 |
|
Hypospadias, Phimosis, Pectus excavatum, Renal hypoplasia, Cleft palate, Death in childhood, High... |
OMIM:309500 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Renal hypoplasia/aplasia, Preaxial ... |
ORPHA:2549 |
| Aspartylglucosaminuria |
|
Inguinal hernia, Aspartylglucosaminuria, Abnormal morphology of ulna, Malabsorption, Pectus carin... |
ORPHA:93 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Prominent metopic ridge, Hypospadias, Overlapping toe, Tapered finger, Short thumb... |
OMIM:619148 |
| Hallermann-Streiff Syndrome |
|
Spina bifida, Hyperlordosis, Pectus excavatum, High, narrow palate, Metaphyseal widening, Narrow ... |
OMIM:234100 |
| Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Finger syndactyly, Renal agenesis, Camptodactyly of finger, Micromelia, Renal ... |
ORPHA:2753 |
| Familial Visceral Myopathy |
|
Hydroureter, Arachnodactyly, Camptodactyly of finger, Aganglionic megacolon, Aplasia/Hypoplasia o... |
ORPHA:2604 |
| Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Perianal abscess, T lymphocytopenia, Inflammation of the large intestine, B lymphocyto... |
OMIM:618108 |
| 22Q11.2 Deletion Syndrome |
|
Short neck, Anorectal anomaly, Gastroesophageal reflux, Vesicoureteral reflux, Hypospadias, Arach... |
ORPHA:567 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Lipoatrophy, Hyperextensibility of the knee, Tibial bowing, Thin ribs, Short foot,... |
OMIM:601812 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Long fibula, Narrow chest, Short phalanx of finger, Short metacarpal, Cone-shaped met... |
OMIM:250220 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Polycythemia |
OMIM:193300 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Gastroesophageal reflux, Vertebral fusion, Tethered cord, ... |
OMIM:194190 |
| Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Hypospadias,... |
OMIM:219000 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, High palate, Pancreatic apl... |
ORPHA:556955 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Rectal prolapse, Long penis, Hypercalciuria, Megarectum, Nep... |
ORPHA:508 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Prominent fingertip pads, Anal atresia, Scoliosis |
OMIM:616875 |
| Restrictive Dermopathy |
|
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Ureteral duplication, Hypospadias, ... |
ORPHA:1662 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa... |
ORPHA:2473 |
| Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Renal agenesis, Ectopic kidney, Absent thumb, Short thumb, Absent r... |
OMIM:227645 |
| Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, Prominent interphalangeal joints, High palate, C... |
OMIM:135900 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... |
ORPHA:731 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m... |
OMIM:181450 |
| Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Capita... |
ORPHA:289 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Cryptorchidism, ... |
ORPHA:2554 |
| Lowry-Maclean Syndrome |
|
Craniosynostosis, Bilateral cryptorchidism, Abnormality of the abdominal organs, Pyloric stenosis... |
ORPHA:2409 |
| Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Tarsal synostosis, Congenital diaphragmatic hernia, Rib fusion, Horseshoe kidn... |
OMIM:157800 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Congenital diaphragmat... |
OMIM:614080 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Xerostomia, Anteriorly placed anus, Ureterocele, Vesicoureteral reflux, ... |
OMIM:604292 |
| Isolated Anencephaly |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:563609 |
| Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Arachnodactyly, ... |
ORPHA:284984 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Cryptorchidism, Furrowed tongue, Hip dysplasia, High palate, Gastroesophageal reflux,... |
OMIM:616975 |
| Duplication Of Urethra |
|
Urethral stricture, Anuria, Urinary incontinence, Rectourethral fistula, Epispadias, Anorectal an... |
ORPHA:237 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma... |
ORPHA:247806 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Tapered finger, Hyperlordosis, Hip dislocation, Cleft palate, Genu valgum, Umbilical hernia, Tali... |
OMIM:301066 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Inguinal hernia, Tapered toe, Tapered finger, Celiac disease, Rib fusion, Clinodac... |
ORPHA:544488 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Median cleft lip, Accessory oral frenulum, Postaxial polydactyly, Splenomegaly, Sup... |
OMIM:617088 |
| Adrenomyeloneuropathy |
|
Back pain, Urinary incontinence, Atrophy of the spinal cord, Abnormal spinal cord morphology, Uri... |
ORPHA:139399 |
| Opitz Gbbb Syndrome |
|
Inguinal hernia, Hypospadias, Rectourethral fistula, Cleft palate, Congenital posterior urethral ... |
OMIM:300000 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Finger syndactyly, Camptodactyly of finger, Abnormal p... |
ORPHA:2907 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... |
ORPHA:249 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
| Cowden Syndrome |
|
Abnormal penis morphology, Abnormality of the kidney, Pectus excavatum, Kyphosis, Furrowed tongue... |
ORPHA:201 |
| Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Abnormal renal corticomedullary differentiation, Thin ribs |
OMIM:617397 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Umbilical hernia |
ORPHA:920 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Anterior rib cupping, Horizontal inferior border of scapula, Platysp... |
OMIM:102700 |
| Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Anteriorly placed anus, Cutaneous ... |
OMIM:200110 |
| Multiple Myeloma |
|
Spinal cord compression, Functional abnormality of the gastrointestinal tract, Abnormality of the... |
ORPHA:29073 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Hypospadias, Death in childhood, Neonatal death, Arthrogryposis multiplex conge... |
OMIM:619334 |
| Immunodeficiency, Common Variable, 10 |
|
Pyloric stenosis, Frequent Giardia lamblia infestation, Decreased response to growth hormone stim... |
OMIM:615577 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Supernumerary nipple, Pyloric stenosis, Smal... |
ORPHA:1001 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Pancytopenia, Pectus excavatum, Splenomegaly, Abnormality of the spleen, Thrombocy... |
ORPHA:2072 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Aganglionic megacolon, Shortening of all distal phalanges of the fingers, Cleft pa... |
OMIM:614207 |
| Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Gastric ulcer, Short phalanx of finger, Anemia |
OMIM:208060 |
| Orofaciodigital Syndrome Type 2 |
|
Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Hamartoma of tong... |
ORPHA:2751 |
| Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis, Omphalocele |
OMIM:248450 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus, Gastrosc... |
ORPHA:2476 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology, Autoamputation of digits, Cleft palate |
ORPHA:494 |
| 17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Pancreatic aplasia |
ORPHA:261265 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Craniosynostosis, Short neck, Cleft palate, Ectopic anus, High palate... |
ORPHA:251038 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Inguinal hernia, Abnormality of the kidney, Tapered finger, Gastroesophageal reflux, Vesicoureter... |
ORPHA:261652 |
| Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Gastroesophage... |
ORPHA:2044 |
| Feingold Syndrome Type 1 |
|
Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Vesicoureteral reflux, Ne... |
ORPHA:391641 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Prominent fingertip pads, Anal atresia, Scoliosis |
ORPHA:480898 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atresia, Rectal abs... |
ORPHA:436252 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
| Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Proteinuria, Sandal gap, Delayed cranial suture closure, Decreased fibular diameter, Pectus excav... |
OMIM:619127 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Abnormal mesentery morphology, Gastric ulcer, Anemia |
ORPHA:3463 |
| Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Duodenal polyposis, Stomach cancer, Goiter, Pituit... |
ORPHA:733 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Johanson-Blizzard Syndrome |
|
Death in infancy, Hypoplasia of penis, Hypospadias, Malabsorption, Anteriorly placed anus, Hydron... |
ORPHA:2315 |
| Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Lipoatrophy, Limited elbow movement, Delayed closure of the anterior fontan... |
OMIM:614008 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia... |
ORPHA:227982 |
| Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial foot pol... |
OMIM:612284 |
| Blue Rubber Bleb Nevus |
|
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception |
OMIM:112200 |
| Lynch Syndrome |
|
Intestinal polyposis, Death in infancy, Death in early adulthood, Gastrointestinal hemorrhage, Ma... |
ORPHA:144 |
| Cystic Fibrosis |
|
Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Gastroesophageal reflux, Steator... |
ORPHA:586 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, H... |
ORPHA:227990 |
| 46,Xy Sex Reversal 4 |
|
Distal symphalangism, Cleft palate, Hydronephrosis, High palate, Ureteropelvic junction obstructi... |
OMIM:154230 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Esophageal atresia, Axillary pterygium, Congenital pyloric atresia |
OMIM:226730 |
| Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Short neck, Clinodactyly of the 5th finger, Spina bifida occult... |
ORPHA:709 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Broad hallux, Aganglionic megacolon, Cleft palate, Shortening of all distal phalan... |
OMIM:614749 |
| Pyknoachondrogenesis |
|
Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Enlarged tho... |
ORPHA:3003 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... |
OMIM:268305 |
| Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Syndactyly, Death in infancy, Craniosynostosis, Protruding t... |
OMIM:612289 |
| Holoprosencephaly 7 |
|
Omphalocele, Bilateral cleft palate, Cleft palate, Occipital meningocele, Unilateral cleft palate... |
OMIM:610828 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis, Iris coloboma |
OMIM:155145 |
| Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Anal stenosis, Congenital hip dislocation, Patella... |
OMIM:606170 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Brachydactyly, Tarsal synostosis, Hamartoma of tongue, Pancreatic cysts, Abnor... |
ORPHA:2750 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... |
ORPHA:2973 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia, R... |
OMIM:270420 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intestinal malrotation, Biliary atresia, Pancreatic aplasia, Cervical ribs, Aplasia/Hypoplasia of... |
ORPHA:2255 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Short neck, Calcaneovalgus deformity, Neonatal death, Pterygium, Finger syndactyly, S... |
OMIM:256520 |
| Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Gastroesophageal reflux, Vesicoureteral reflux, Abnorm... |
ORPHA:821 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... |
ORPHA:2008 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Renal neoplasm, Malabsorption, Hepatocellular carcinoma, Flexion con... |
ORPHA:440437 |
| Benign Schwannoma |
|
Nasal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth cran... |
ORPHA:252164 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
| Autoimmune Lymphoproliferative Syndrome |
|
Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative... |
ORPHA:3261 |
| Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Short neck, Short toe, Patent ductus arteriosus, 2-3 toe synda... |
OMIM:139210 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria |
ORPHA:30 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Ovarian cyst, Lo... |
OMIM:311200 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Inguinal hernia, Congenital diaphragmatic hernia, Abnormal femur morphol... |
ORPHA:2063 |
| Primary Ciliary Dyskinesia |
|
Nasal polyposis, Hydrocephalus, Clubbing, Nasal congestion, Chronic rhinitis, Rod-cone dystrophy |
ORPHA:244 |
| Lumbar Syndrome |
|
Renal agenesis, Hypospadias, Spina bifida, Myelomeningocele, Ectopic anus, Vesicoureteral reflux,... |
ORPHA:83628 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
| Loeys-Dietz Syndrome 3 |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ... |
OMIM:613795 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Proximal placement of thumb, Short neck, Limited elbow movement, Hemiverteb... |
OMIM:261540 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Epispadias, Abnormality of the ure... |
ORPHA:3339 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, High palate, Clinodactyly of the 5th finger, Pelvic kid... |
OMIM:619522 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Polycystic liver disease, Hepatic cysts, Pituitary growth hormone cell adenoma |
ORPHA:730 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Inguinal hernia, Intestinal malrotation, Congenital diaphragmatic hernia, P... |
OMIM:600001 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
| Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
| Townes-Brocks Syndrome 1 |
|
Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger... |
OMIM:107480 |
| Cystic Fibrosis |
|
Meconium ileus, Rectal prolapse, Ileus, Hypercalciuria, Clubbing of fingers, Steatorrhea |
OMIM:219700 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Pectus excavatum, Cryptorchidism, ... |
OMIM:617137 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Exocrine pancreatic insufficiency, High palate, Hitchhiker thumb, Pancreatic ... |
OMIM:618500 |
| Bnar Syndrome |
|
Anteriorly placed anus, Abnormal fifth toe morphology, Anal stenosis, Renal agenesis |
ORPHA:217266 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Short thumb, Hypoplasia of the radius, Fibu... |
OMIM:227270 |
| Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Neoplasm of the r... |
ORPHA:556 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Block vertebrae, Renal agenesis, Ectopic k... |
OMIM:164210 |
| Limb-Mammary Syndrome |
|
Syndactyly, Absent nipple, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syn... |
ORPHA:69085 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Inguinal hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Re... |
OMIM:601186 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
| Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Malabsorption, Splenomegaly, Pylori... |
ORPHA:2136 |
| Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Neop... |
ORPHA:157794 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Umbilical hernia, Anal stenosis, Hypospadias, Inguinal hernia |
OMIM:601499 |
| Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Long fingers, Ve... |
OMIM:617746 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Renal dysplasia, Hallux valgus, Sacral dimple, Congenital hip dislocation, Overlapping toe, Thora... |
ORPHA:480880 |
| Cardiac Diverticulum |
|
Omphalocele, Diastasis recti, Aplasia/Hypoplasia of the sternum, Patent ductus arteriosus, Umbili... |
ORPHA:1686 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Gastritis, Malabsorption, Autoimmune thrombocytopenia, Splenomegaly,... |
ORPHA:37042 |
| Superficial Siderosis |
|
Back pain, Atrophy of the spinal cord, Abnormal spinal cord morphology, Functional abnormality of... |
ORPHA:247245 |
| Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Anal atresia, Hypospadias, Partial absence of foot, Short neck, ... |
ORPHA:96176 |
| Coccidioidomycosis |
|
Renal insufficiency, Abnormality of the kidney, Abnormality of the bladder, Atypical scarring of ... |
ORPHA:228123 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovaginal fistula, A... |
ORPHA:3016 |
| Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Abnormali... |
ORPHA:84064 |
| Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
| Ciliary Dyskinesia, Primary, 42 |
|
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis |
OMIM:618695 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Microcolon, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Toe syndactyly, Renal agenesis, Ectopic kidney, Hypoplasia of the radius, Ho... |
ORPHA:140952 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Increased intervertebral space, Diaphyseal dysplasia, Platyspondyly, Short... |
OMIM:619727 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis |
OMIM:242670 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Gastritis, Hematemesis, Mediastinal lymphadenopathy, Peritonitis, He... |
ORPHA:73263 |
| Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Congenital contracture, Flexion contracture, Thin ribs |
OMIM:615368 |
| Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms |
OMIM:614935 |
| Li-Fraumeni Syndrome |
|
Renal neoplasm, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Neoplasm of the gastr... |
ORPHA:524 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Short neck, Anorectal anomaly, Cleft palate, Pollakisuria, Anal atresia |
ORPHA:647 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia... |
ORPHA:95455 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Duplicated collecting system, Inguinal hernia, Hydroureter, Renal agenesis, Toe ... |
OMIM:129900 |
| Radial Aplasia, X-Linked |
|
Absent radius, Penile hypospadias, Anal atresia |
OMIM:312190 |
| Acrocallosal Syndrome |
|
High palate, Clinodactyly of the 5th finger, Micropenis, Bifid uvula, Finger syndactyly, Hypospad... |
OMIM:200990 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Neoplasm of the rectum, Neoplasm of th... |
ORPHA:424016 |
| Immunodeficiency 13 |
|
Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections |
OMIM:615518 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Craniosynostosis, Splenomegaly, Abnormal rib morphology, ... |
ORPHA:667 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Inguinal hernia, Hypospadias, 3-Methylglutaconic aciduria, Death in childhood, Neonatal death, Um... |
OMIM:614052 |
| Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dynein arms |
OMIM:615444 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia... |
OMIM:194080 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp... |
OMIM:619381 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Thin ribs |
OMIM:614833 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Abnormal renal morphology, Tracheoe... |
ORPHA:59315 |
| Ciliary Dyskinesia, Primary, 30 |
|
Nasal congestion, Absent outer dynein arms, Nasal polyposis |
OMIM:616037 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
| Down Syndrome |
|
Sandal gap, Aganglionic megacolon, Protruding tongue, Patent ductus arteriosus, Atlantoaxial inst... |
OMIM:190685 |
| Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Flexion contracture, Narrow chest, Genu varum, Long toe, Hypospadias, Long penis, Abs... |
OMIM:264090 |
| Ciliary Dyskinesia, Primary, 35 |
|
Nasal polyposis, Chronic rhinitis |
OMIM:617092 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Hydroureter, Aganglionic megacolon, Mesoaxial hand polydactyly, Congenital hip disloc... |
OMIM:236700 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, High, narrow pal... |
ORPHA:3472 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis |
OMIM:608647 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Nasal polyposis, Recurrent sinusitis |
OMIM:620197 |
| Immunodeficiency 40 |
|
Focal active colitis, Rectal fistula |
OMIM:616433 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Absence of the sacrum, Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Patent du... |
OMIM:270100 |
| Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Absent inner and outer dynein arms |
OMIM:606763 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Anal fissure, Perianal abscess, Ulcerative colitis, Nephrotic syndrome, Crohn's disease |
OMIM:618935 |
| Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Nasal polyposis, Absent outer dynein arms, Anosmia, Chronic rhinitis |
OMIM:244400 |
| Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis |
OMIM:604571 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria |
OMIM:602199 |
| Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis |
OMIM:613808 |
| Meacham Syndrome |
|
Death in infancy, Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Horseshoe kidney,... |
OMIM:608978 |
| Wolfram Syndrome 2 |
|
Gastric ulcer |
OMIM:604928 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pectus excavatum, Proximal renal tubular acidosis, Nephrolithiasis, Renal tubular acidosis, High ... |
ORPHA:2785 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Adrenal pheochromocyto... |
ORPHA:892 |
| Curry-Jones Syndrome |
|
Bicoronal synostosis, Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Duplic... |
OMIM:601707 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... |
ORPHA:447877 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Foot joint contracture, Glomerulonephritis, Anal fissure... |
ORPHA:79408 |
| Granulomatosis With Polyangiitis |
|
Concave nasal ridge, Nasal mucosa vasculitis, Retinal hemorrhage |
OMIM:608710 |
| Viss Syndrome |
|
Chronic gastritis, High, narrow palate, Pectus carinatum, High palate, Gastroesophageal reflux, B... |
OMIM:619472 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin... |
ORPHA:449395 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Congenital diaphragmatic hernia, Cleft palate, Anteriorly placed anus, Chordee, Colo... |
OMIM:309801 |
| Lipoid Proteinosis |
|
Nasal polyposis |
ORPHA:530 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Recurrent urinary tract infections, Sandal gap, 2-3 toe syndactyly, Cleft palate, ... |
OMIM:251260 |
| Carney Complex |
|
Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli ce... |
ORPHA:1359 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Renal insufficiency, Nasal polyposis, Proteinuria, Eosinophilia, Hematuria, Tubulointerstitial ne... |
ORPHA:183 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology, Hamstring contractures, Ankle clonus, Dysphagia |
ORPHA:139396 |
| Tetraamelia Syndrome 1 |
|
Renal agenesis, Congenital diaphragmatic hernia, Cleft palate, Urethral atresia, Gastroschisis, A... |
OMIM:273395 |
| Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Short metatarsal, High palate, Absent hallux, Absent sternal ossifica... |
OMIM:216340 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer |
ORPHA:454840 |
| Mednik Syndrome |
|
Death in infancy, Jejunal atresia, Death in childhood, Neonatal death, Volvulus, Microcolon |
OMIM:609313 |
| Primary Sjögren Syndrome |
|
Renal insufficiency, Glomerulonephritis, Abnormality of the kidney, Polyarticular arthropathy, Ab... |
ORPHA:289390 |
| Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Phimosis, Urethral stenosis, Dysphagia, Oral leukoplakia |
OMIM:173650 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Femur fracture, Death in infancy, Death in childhood |
OMIM:612301 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Neoplasm... |
ORPHA:99889 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Urachal cyst, Rectal abscess |
OMIM:608203 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Syndactyly, Renal insufficiency, Inguinal hernia, Postaxial polydactyly, Patent ductu... |
OMIM:619534 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Congenital pyloric atresia |
ORPHA:158684 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Intrarenal abscess, Abnormal spinal cord morphology |
ORPHA:68 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Rectal abscess, Cellulitis |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Rectal abscess, Cellulitis |
OMIM:233710 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Rectal abscess, Cellulitis |
OMIM:233690 |
| Granulomatous Disease, Chronic, X-Linked |
|
Rectal abscess, Cellulitis |
OMIM:306400 |
| Leukocyte Adhesion Deficiency, Type I |
|
Rectal abscess |
OMIM:116920 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess |
OMIM:601495 |
| Johanson-Blizzard Syndrome |
|
Colonic diverticula, Hypospadias, Urethrovaginal fistula, Malabsorption, Anteriorly placed anus, ... |
OMIM:243800 |
| Sarcoidosis |
|
Abnormal nasal mucosa morphology, Renal insufficiency, Facial palsy, Eosinophilia, Nephrolithiasi... |
ORPHA:797 |
