| Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
| Hypertrophy Of The Breast, Juvenile |
|
Abnormal thorax morphology |
OMIM:113670 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Vertebral fusion, Short thorax, Bilateral renal agenesis, Vertebral segmentation d... |
OMIM:618845 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Patent ductus arteriosus, Narrow chest, Vertebral segmentation defect, Unilater... |
OMIM:617661 |
| Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
| Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Chondrocalcinosis, Arthropathy, Osteoarthritis of the small joints of the hand, Costal cartilage ... |
OMIM:118610 |
| Caudal Duplication |
|
Myelomeningocele, Renal hypoplasia/aplasia, Vertebral segmentation defect, Spina bifida, Abnormal... |
ORPHA:1756 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Thoracolumbar scoliosis, Renal dysplasia, Prune belly, Anal atresia, Cervical ribs, Hypertrophy o... |
OMIM:601389 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the ureter, Short neck, Abnormal intestine morphology, Abnormality of the urinary ... |
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, Abnormal vertebral segmentation and fusion,... |
OMIM:118100 |
| Syngnathia |
|
Cleft palate |
OMIM:119550 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Sprengel anomaly, Abnormal rib morphol... |
OMIM:601076 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Hydronephrosis, Vertebral fusion, Supernumerary vertebrae, Urethral atresia, Block vertebrae, Sho... |
OMIM:271520 |
| Isolated Klippel-Feil Syndrome |
|
Ectopic anus, Renal hypoplasia/aplasia, Spina bifida, Anal atresia, Abnormal sacrum morphology, A... |
ORPHA:2345 |
| Trigonocephaly 1 |
|
High, narrow palate, Metopic synostosis, Long penis, Meckel diverticulum, Lumbar hemivertebrae, O... |
OMIM:190440 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Thoracomelic Dysplasia |
|
Bell-shaped thorax, Short ribs |
OMIM:273740 |
| Thoracic Dysostosis, Isolated |
|
Bell-shaped thorax, Pectus excavatum, Short ribs |
OMIM:187750 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vesicoureteral reflux, Patent ductus arteriosus, Multicystic kidney dys... |
ORPHA:2970 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormality of the kidney, Vertebral segmentation defect, Unilateral renal agen... |
ORPHA:3109 |
| Pseudodiastrophic Dysplasia |
|
Elbow dislocation, Phalangeal dislocation, Scoliosis, Platyspondyly, Omphalocele |
ORPHA:85174 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the philtrum, Finger syndactyly, Abnormality of the elbow, Radioulnar synostosis, ... |
ORPHA:3268 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal thorax morphology, Renal agenesis, Stillbirth, Abnormality of the vertebral column, Clef... |
ORPHA:294975 |
| Braddock Syndrome |
|
Missing ribs, Unilateral renal agenesis, Pectus excavatum, Short neck, Scoliosis, Hemivertebrae |
ORPHA:52047 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Supernumerary ribs, Submucous cleft hard palate, Pectus excavatum, Inguinal hernia, Six lumbar ve... |
OMIM:619122 |
| Vacterl/Vater Association |
|
Anorectal anomaly, Multicystic kidney dysplasia, Vertebral segmentation defect, Anencephaly, Rena... |
ORPHA:887 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Fused cervical vertebrae, Renal agenesis, Butterfly vertebrae, Unilateral ren... |
OMIM:619227 |
| Postaxial Acrofacial Dysostosis |
|
Midgut malrotation, Supernumerary vertebrae, Abnormality of the kidney, Pyloric stenosis, Radioul... |
OMIM:263750 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, High palate, Ectopic anus, Narrow chest, Hypoplasia of penis, Hypospadia... |
ORPHA:1703 |
| Emanuel Syndrome |
|
Sacral dimple, Patent ductus arteriosus, Gastroesophageal reflux, High palate, Multiple joint con... |
ORPHA:96170 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal dysplasia, Vertebral segmentation defect, Renal agenesis, Ectopic kidney, Short neck, Abnor... |
ORPHA:2578 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the upper urinary tract, Abnormality of the ureter, Radioulnar synostosis, Elbow a... |
ORPHA:3266 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Cleft palate, Cryptorchidism |
ORPHA:1074 |
| Emanuel Syndrome |
|
Sacral dimple, Patent ductus arteriosus, Gastroesophageal reflux, High palate, Kyphosis, Recurren... |
OMIM:609029 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Abnormal rib morphology, O... |
ORPHA:93267 |
| Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
| 3Q29 Microdeletion Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, High palate, Pectus excavatum, Hypospadias, Ho... |
ORPHA:65286 |
| Cloacal Exstrophy |
|
Vesicoureteral reflux, Omphalocele, Myelomeningocele, Renal hypoplasia/aplasia, Hydroureter, Spin... |
ORPHA:93929 |
| Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Vesicoureteral reflux, Short thorax, Narrow chest, Anisospondyly,... |
ORPHA:2484 |
| Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis, Cleft palate, Scoliosis |
OMIM:619504 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Sacral dimple, Hypospadias, Short neck, Abnormality of the ureter |
ORPHA:2487 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Clinod... |
OMIM:311895 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Gastroesophageal reflux, Unilateral renal agenesis, Anteriorly placed anus, Scoliosis, Dysphagia,... |
OMIM:618494 |
| Miller-Dieker Syndrome |
|
Sacral dimple, Omphalocele, Nephropathy |
ORPHA:531 |
| Oeis Complex |
|
Vesicovaginal fistula, Tethered cord, Congenital hip dislocation, Pelvic kidney, Omphalocele, Hem... |
OMIM:258040 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Back pain, Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstructio... |
OMIM:143400 |
| Juberg-Hayward Syndrome |
|
Abnormality of the elbow, Abnormality of the wrist, Abnormal vertebral morphology, Radioulnar syn... |
ORPHA:2319 |
| Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
| Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
| Distal Trisomy 15Q |
|
Camptodactyly of finger, High palate, Anal atresia, Pectus excavatum, Short neck, Omphalocele |
ORPHA:1707 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Umbilical hernia, Meningocele, Short thorax, Kyphosis, Vertebral segment... |
ORPHA:2311 |
| Gordon Syndrome |
|
Camptodactyly of finger, High palate, Finger syndactyly, Clinodactyly of the 5th finger, Pectus e... |
ORPHA:376 |
| Sprengel Deformity |
|
Cleft palate, Abnormal shoulder morphology |
ORPHA:3181 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Unilateral renal agenesis, Prominent metopic ridge, Scoliosis, Pectus excavatum |
OMIM:616362 |
| Fibrochondrogenesis 1 |
|
Widely patent coronal suture, Anterior rib cupping, Thoracic hypoplasia, Joint contracture of the... |
OMIM:228520 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... |
OMIM:609813 |
| 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 |
| Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae |
OMIM:608681 |
| Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
| Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
| Even-Plus Syndrome |
|
Vertebral clefting, Vesicoureteral reflux, High palate, Recurrent urinary tract infections, Anal ... |
OMIM:616854 |
| Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Ne... |
ORPHA:157798 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Bell-shaped thorax, Vertebral fusion, Short thorax, Myelomeningocele, Ectopic anus, Block vertebr... |
OMIM:613686 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Death in infancy, Narrow chest, Abnormal rib morphology, Abnormal form of the vertebral... |
ORPHA:1354 |
| Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormally ossified vertebrae, Poorly ossif... |
ORPHA:1263 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Pectus excavatum, Abnormality of the ureter, S... |
ORPHA:2522 |
| Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Extrahepatic biliary duct ... |
OMIM:601346 |
| Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Vertebral segmentation defect, Polycystic kidney dysplasia, Radioulnar ... |
ORPHA:1988 |
| Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly, Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
| Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Biliary tract abnormality... |
ORPHA:234 |
| Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, High palate, Hip co... |
OMIM:619110 |
| Vacterl Association With Hydrocephalus |
|
Anal atresia, Abnormal vertebral morphology, Stillbirth, Renal hypoplasia, Abnormality of the ver... |
OMIM:276950 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Duodenal atresia, Annular pancreas |
ORPHA:1203 |
| Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Omphalocele, Encephalocele, Renal agenesis, Anal atresia, Median cleft lip and ... |
OMIM:264480 |
| Caudal Regression Syndrome |
|
Vesicoureteral reflux, Arrhinencephaly, Missing ribs, Renal agenesis, Anal atresia, Hypoplastic v... |
ORPHA:3027 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short ribs, Postaxial foot polydactyly, Postaxial hand polydactyly, Lateral clav... |
OMIM:617405 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Bell-shaped thorax, Short ribs, Narrow chest, Hypoplastic scapulae, Shor... |
ORPHA:2021 |
| Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
| Multiple Synostoses Syndrome 3 |
|
Limited interphalangeal movement, Humeroradial synostosis, Cutaneous syndactyly of toes, Metatars... |
OMIM:612961 |
| Carpenter Syndrome 1 |
|
Sacral dimple, Genu varum, Genu valgum, Sagittal craniosynostosis, Patent ductus arteriosus, Late... |
OMIM:201000 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Sacral dimple, Anal atresia, Hemivertebrae, Horseshoe kidney |
OMIM:619318 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentation defect, Scoliosis, Sp... |
OMIM:184400 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Patent ductus arteriosus, Gastroesophageal reflux, Pectus excavatum, Intestinal malrotation, Hypo... |
OMIM:618316 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Prenatal death, High palate, Kyphosis, Camptodactyly, Short neck, Neonatal deat... |
OMIM:618393 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Intestinal malrotation, Abnormal rib morphology, Omphalocele, Tibi... |
ORPHA:3035 |
| Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
| Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Patent ductus arteriosus, Lobulated tongue, Short thorax, Short ribs, Narrow che... |
OMIM:269860 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A... |
ORPHA:1797 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal irregularity, Enlargement of the costochondral junction, Coxa valga, Sclerotic humera... |
OMIM:609052 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Anal atresia, Hyperlordosis, Scoliosis |
ORPHA:2310 |
| Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
| Shashi-Pena Syndrome |
|
Patent ductus arteriosus, Kyphosis, Unilateral renal agenesis, Scoliosis, Cervical C2/C3 vertebra... |
OMIM:617190 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Abnor... |
ORPHA:66637 |
| Triploidy |
|
Meningocele, Hypoplasia of penis, Macroglossia, Intestinal malrotation, Hypospadias, Short neck, ... |
ORPHA:3376 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Anal atresia, Abnormal localization of kidney, Abnormal rib morphology,... |
ORPHA:195 |
| 3C Syndrome |
|
Gastroesophageal reflux, Kyphosis, Death in infancy, Ectopic anus, Missing ribs, Hypoplasia of pe... |
ORPHA:7 |
| Trisomy 1Q |
|
Camptodactyly of finger, Patent ductus arteriosus, Multicystic kidney dysplasia, Congenital megau... |
ORPHA:261344 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Omphalocele, Encephalocele, Myelomeningocele, Narrow chest, Synostosis o... |
ORPHA:90652 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Anal atresia, Scoliosis |
OMIM:246000 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Sacral dimple, Bifid ribs, Vertebral fusion, Patent ductus arteriosus, High palate, Narrow chest,... |
OMIM:213980 |
| Melnick-Needles Syndrome |
|
Delayed cranial suture closure, Genu valgum, Narrow chest, Anterior concavity of thoracic vertebr... |
OMIM:309350 |
| Ritscher-Schinzel Syndrome 1 |
|
Missing ribs, Anal atresia, Hypospadias, Cleft palate, Hemivertebrae, Hydronephrosis |
OMIM:220210 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... |
OMIM:122600 |
| Chromosome 10Q26 Deletion Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, High palate, Pectus excavatum, Congenital hip di... |
OMIM:609625 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Patent ductus arteriosus, Gastroesophageal reflux, Multicystic kidney dy... |
ORPHA:2092 |
| Fryns Syndrome |
|
Vesicoureteral reflux, Gastroesophageal reflux, Multicystic kidney dysplasia, High palate, Ectopi... |
ORPHA:2059 |
| Osteopathia Striata With Cranial Sclerosis |
|
Delayed closure of the anterior fontanelle, Bifid uvula, Camptodactyly, Pectus excavatum, Spina b... |
OMIM:300373 |
| Feingold Syndrome |
|
Hallux valgus, Esophageal atresia, Toe syndactyly, Clinodactyly of the 5th finger, Brachydactyly,... |
ORPHA:1305 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Horizontal ribs, Short tibia, Bell-shaped thorax, Patent ductus arteriosus, Encephalocele, Bifid ... |
OMIM:616300 |
| Jeune Syndrome |
|
Abnormal sternum morphology, Short thorax, Abnormality of the liver, Narrow chest, Toe syndactyly... |
ORPHA:474 |
| Kyphomelic Dysplasia |
|
Short thorax, Anterior rib cupping, Missing ribs, Flat acetabular roof, Lateral clavicle hook, Na... |
ORPHA:1801 |
| Endosteal Hyperostosis, Worth Type |
|
Abnormal rib morphology, Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the ver... |
ORPHA:2790 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Anal atresia, Abnormal sacrum morphology, Scoli... |
ORPHA:1436 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Sacral dimple, Urethral atresia, Esophageal atresia, Enlarged kidney, Abnormal vertebral morpholo... |
OMIM:314390 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Jejunal atresia, Malabsorption, Achol... |
OMIM:615710 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Narrow chest, Long thorax, Abnormal intervertebral disk morpho... |
ORPHA:2635 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Short ribs, Short long bone, Thoracic dysplasia, Femoral bowing, Syndactyly, Lateral clavicle hoo... |
OMIM:615503 |
| Septopreoptic Holoprosencephaly |
|
Ethmoidal encephalocele, Abnormal vertebral morphology, Anteriorly placed anus, Dysphagia, Abnorm... |
ORPHA:280195 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Vesicoureteral reflux, Bifid ureter, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, ... |
OMIM:617641 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Humeroradial synostosis, Elbow flexion contracture, Camptodactyly, Metatarsa... |
ORPHA:95699 |
| Cleft Palate-Lateral Synechia Syndrome |
|
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth |
ORPHA:2016 |
| African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... |
ORPHA:139507 |
| Waardenburg Syndrome, Type 1 |
|
Supernumerary vertebrae, Myelomeningocele, Spina bifida, Supernumerary ribs, Sprengel anomaly |
OMIM:193500 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Pectus excavatum, Abnormal rib mo... |
OMIM:602196 |
| Cleft Palate, Isolated |
|
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Flexion contracture, Vertebral hypoplasia, Short ribs, Unilateral renal agenesis, Congenital hip ... |
OMIM:308050 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Splenomegaly, Gastric varix |
OMIM:613490 |
| C Syndrome |
|
Patent ductus arteriosus, Renal cortical cysts, High palate, Hip dislocation, Dislocated radial h... |
OMIM:211750 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Nephroblastoma, Joint dislocation, Inguinal hernia, Colon cancer, Scoliosis, Atypical scarring of... |
OMIM:617174 |
| Perlman Syndrome |
|
Abnormal pancreas morphology, High, narrow palate, Hepatomegaly, Cryptorchidism |
ORPHA:2849 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, Vesicoureteral reflux, Kyphosis, Unilateral renal agenesis, Scoliosis, B... |
OMIM:619951 |
| Hyperparathyroidism, Transient Neonatal |
|
Patent ductus arteriosus, Gastroesophageal reflux, Short ribs, Enlarged kidney, Unilateral renal ... |
OMIM:618188 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Anal atresia, Scoliosis, Prominent metopic ridge |
OMIM:309620 |
| Pentalogy Of Cantrell |
|
Abnormal sternum morphology, Encephalocele, Renal dysplasia, Anencephaly, Renal agenesis, Congeni... |
ORPHA:1335 |
| Diastrophic Dysplasia |
|
Genu valgum, Hip contracture, Patellar dislocation, Cervical kyphosis, Spinal cord compression, K... |
OMIM:222600 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Short neck, Abnormal rib morphology, Abnormality of the humeroulnar joint, H... |
ORPHA:2234 |
| Opitz Gbbb Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, High palate, Ectopic anus, Vertebral segmentatio... |
ORPHA:2745 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Vesicoureteral reflux, Narrow palate, Joint contracture of the hand, Coronal craniosynostosis, Ca... |
OMIM:235510 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Anterior encephalocele, Short femur, Bilateral cleft palate, Scoliosis, Omphalocele |
OMIM:601357 |
| Burn-Mckeown Syndrome |
|
Bifid uvula, Unilateral renal agenesis, Inguinal hernia, Renal hypoplasia, Cleft palate |
OMIM:608572 |
| Fryns Syndrome |
|
Thoracic hypoplasia, Camptodactyly, Short neck, Cleft palate, Aplasia of the left hemidiaphragm, ... |
OMIM:229850 |
| Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Pectus excavatum, Hepatoblastoma, Short neck, Abnormal rib morphology, C... |
ORPHA:373 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Abdominal wall defect, Abnormal stomach morphology, Unilateral renal agenesis, Abnormality of the... |
ORPHA:281090 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Vesicoureteral reflux, Butterfly vertebrae, Arthrogryposis multiplex congenita, Megarectum, Hypos... |
OMIM:301056 |
| Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft lip, Submucous cleft of soft and hard palate, Median cleft lip and palate, Medi... |
ORPHA:1991 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... |
OMIM:277300 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic hypoplasia, Bifid tongue, Renal dysplasia, Short ribs, Enlarged kidney,... |
OMIM:613091 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Brachydactyly, Lateral ... |
OMIM:615633 |
| Distal Monosomy 10P |
|
Abnormality of the elbow, Ectopic anus, Hypoplasia of penis, Anal atresia, Short neck, Cleft palate |
ORPHA:1580 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morph... |
ORPHA:3104 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Cervical ribs, Pectus excavatum, Duplication of renal pelvis, H... |
OMIM:312870 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis, Pectus excavatum |
OMIM:244200 |
| Takenouchi-Kosaki Syndrome |
|
Patent ductus arteriosus, Abnormal sternum morphology, Camptodactyly, Unilateral renal agenesis, ... |
OMIM:616737 |
| Kagami-Ogata Syndrome |
|
Patent ductus arteriosus, Bell-shaped thorax, Flexion contracture, Diastasis recti, Inguinal hern... |
OMIM:608149 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Patent ductus arteriosus, Congenital shortened small intestine, Diastasis recti, Neonatal death, ... |
OMIM:265380 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Flexion contracture, Polycystic kidney dysplasia, Congenital diaphragmatic hernia, Short neck, Om... |
OMIM:263210 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
| Otopalatodigital Syndrome, Type I |
|
Delayed closure of the anterior fontanelle, Accessory carpal bones, Capitate-hamate fusion, Synos... |
OMIM:311300 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Unilateral renal agenesis, Cleft palate |
OMIM:601355 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Patent ductus arteriosus, High palate, Crossed fused renal ectopia, Unilateral renal agenesis, Mi... |
OMIM:618142 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology, Slender long bone, Abnormal palate morphology, Abnormal pelvic girdle bo... |
ORPHA:1506 |
| Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Renal agenesis, Anal atresia, Tracheoesophageal fistula... |
ORPHA:63862 |
| Trisomy 20P |
|
Camptodactyly of finger, Umbilical hernia, Hernia, Kyphosis, Ectopic anus, Spina bifida, Vertebra... |
ORPHA:261318 |
| Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Death in infancy, Abnormal thorax morphology, Abnormal intestine mo... |
ORPHA:1318 |
| Chromosome 9P Deletion Syndrome |
|
Patent ductus arteriosus, Narrow palate, High palate, Inguinal hernia, Hypospadias, Short neck, S... |
OMIM:158170 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Omphalocele, Bifid uvula, Death in infancy |
OMIM:258320 |
| Zttk Syndrome |
|
Patent ductus arteriosus, Flexion contracture, High palate, Kyphosis, Intestinal atresia, Bifid u... |
OMIM:617140 |
| Distal Monosomy 13Q |
|
Encephalocele, Renal hypoplasia/aplasia, Anencephaly, Anal atresia, Abnormal form of the vertebra... |
ORPHA:1590 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Coat hanger sign of ribs, Wrist flexion contracture, Flexion contracture, Diastasis recti, Thorac... |
ORPHA:254528 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Enamel hypoplasia, Proximal tubulopathy, Death in infancy, Unilateral r... |
OMIM:614576 |
| Leopard Syndrome 1 |
|
Limited elbow movement, Missing ribs, Unilateral renal agenesis, Pectus excavatum, Spina bifida o... |
OMIM:151100 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Delayed cranial suture closure, Hip dislocation, Unilateral renal agenesis, Wormian bones |
OMIM:616603 |
| Renal Cysts And Diabetes Syndrome |
|
Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral renal agenesis,... |
OMIM:137920 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis, Anal atresia |
OMIM:274265 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Diastasis recti, Pyloric stenosis, Unilateral renal agenesis, Anal atresia, Scoliosis, Limited el... |
OMIM:618419 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Long philtrum, Abnormal metacarpal morphology, Pectus excavatum, Cleft palate, Pectus carinatum, ... |
ORPHA:166100 |
| Bresek Syndrome |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Aganglionic megacolon, Scolios... |
ORPHA:85284 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate |
OMIM:119300 |
| Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Pancreatic calcification, Steatorrhea, Exocrine pancreatic insufficiency, ... |
OMIM:167800 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| 7Q11.23 Microduplication Syndrome |
|
Sacral dimple, Patent ductus arteriosus, High palate, Unilateral renal agenesis, Pectus excavatum... |
ORPHA:96121 |
| Lethal Congenital Contracture Syndrome 10 |
|
Narrow palate, High palate, Macroglossia, Femoral bowing, Short neck, Narrow chest, Thoracic scol... |
OMIM:617022 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Horizontal ribs, Short phalanx of finger, Thoracic dysplasia, Early ossification of capital femor... |
OMIM:208500 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
| Familial Melanoma |
|
Neoplasm of the stomach, Neoplasm of the pancreas, Abnormality of the lymphatic system |
ORPHA:618 |
| Cerebrocostomandibular Syndrome |
|
Thoracic hypoplasia, Cleft soft palate, Elbow flexion contracture, Posterior rib gap, Cleft palat... |
OMIM:117650 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Patent ductus arteriosus, Gastroesophageal reflux, Abnormality of the cervical spine, Kyphosis, U... |
ORPHA:464311 |
| X-Linked Intellectual Disability, Abidi Type |
|
Decreased testicular size, Non-midline cleft lip, Cleft palate, Pectus excavatum |
ORPHA:85273 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Knee flexion contracture, Genu valgum, Hip contracture, Kyphosis, Bilateral renal agenesis, Hydro... |
OMIM:619194 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Death in infancy, Aganglionic megacolon, Hydromyel... |
OMIM:308205 |
| Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Arthritis, Jaundice, Xero... |
ORPHA:779 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Abnormality of mesentery morphology, Abnormal rib morphology, Abnormal... |
ORPHA:93941 |
| Radial-Renal Syndrome |
|
Ectopic kidney, Unilateral renal agenesis |
OMIM:179280 |
| Branchiootorenal Syndrome 1 |
|
Renal steatosis, Vesicoureteral reflux, High palate, Renal dysplasia, Renal malrotation, Polycyst... |
OMIM:113650 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
High palate, Kyphosis, Paucity of anterior horn motor neurons, Short neck, Scoliosis, Neonatal de... |
OMIM:611890 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Penile hypospadias, Renal cortical cysts, Elbow flexion contracture, Ren... |
ORPHA:1692 |
| Iniencephaly |
|
Hyperlordosis, Spinal dysraphism, Encephalocele, Myelomeningocele, Spina bifida, Gastroschisis, R... |
ORPHA:63259 |
| Trisomy 13 |
|
Patent ductus arteriosus, Hernia, Kyphosis, Narrow chest, Abnormality of the ureter, Multiple ren... |
ORPHA:3378 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihyd... |
OMIM:613630 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Stage 5 chronic kidney disease, Anal atresia, Miscarriage, Renal cyst, Neonatal... |
OMIM:613390 |
| Mucopolysaccharidosis, Type Iva |
|
Chondroitin sulfate excretion in urine, Grayish enamel, Lumbar kyphosis, Keratan sulfate excretio... |
OMIM:253000 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
High palate, Hernia, Unilateral renal agenesis |
ORPHA:3306 |
| Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
| Shwachman-Diamond Syndrome 2 |
|
Genu varum, Metaphyseal irregularity, High palate, Neutropenia, Anterior rib cupping, Normocytic ... |
OMIM:617941 |
| Williams-Beuren Region Duplication Syndrome |
|
Patent ductus arteriosus, High palate, Unilateral renal agenesis, Hydronephrosis |
OMIM:609757 |
| Pallister-Hall Syndrome |
|
Patent ductus arteriosus, Radial head subluxation, Renal dysplasia, Hydroureter, Hip dislocation,... |
OMIM:146510 |
| Cdags Syndrome |
|
Delayed cranial suture closure, Sagittal craniosynostosis, Kyphosis, Short ribs, Coronal craniosy... |
OMIM:603116 |
| Peutz-Jeghers Syndrome |
|
Stomach cancer, Abnormality of the gastrointestinal tract, Renal cell carcinoma, Esophageal neopl... |
ORPHA:2869 |
| Atelosteogenesis Type I |
|
Joint dislocation, Thoracic hypoplasia, Short long bone, Abnormal pancreatic duct morphology, Sho... |
ORPHA:1190 |
| Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Multiple gastric pol... |
ORPHA:2494 |
| Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Abnormality of the cervical spine, Aganglionic megacolon, Gastroschisis... |
OMIM:154400 |
| Esophageal Atresia |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... |
ORPHA:1199 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, Abnormality of the cervical spine, Multiple jo... |
ORPHA:464306 |
| Metatropic Dysplasia |
|
Genu valgum, Flexion contracture, Relatively short spine, Clavicular pseudarthrosis, Kyphosis, Sh... |
OMIM:156530 |
| Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit... |
ORPHA:543 |
| 15Q24 Microdeletion Syndrome |
|
Hernia, Myelomeningocele, Kyphosis, Microphallus, Anal atresia, Congenital diaphragmatic hernia, ... |
ORPHA:94065 |
| 3Mc Syndrome 1 |
|
Sacral dimple, Patent ductus arteriosus, Diastasis recti, Coronal craniosynostosis, Caudal append... |
OMIM:257920 |
| Noonan Syndrome 12 |
|
11 pairs of ribs, Anteriorly placed anus, Spinal canal stenosis, Pectus excavatum |
OMIM:618624 |
| Prune Belly Syndrome |
|
Patent ductus arteriosus, Congenital posterior urethral valve, Hydroureter, Prune belly, Anal atr... |
OMIM:100100 |
| Currarino Syndrome |
|
Vesicoureteral reflux, Urinary incontinence, Anal fistula, Perianal abscess, Anterior sacral meni... |
OMIM:176450 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis |
OMIM:613702 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Missing ribs, Congenital diaphragmatic hernia, Anteriorly placed anus, S... |
ORPHA:1488 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Patent ductus arteriosus, Recurrent urinary tract infections, Abnormality of the kidney, Velophar... |
ORPHA:363444 |
| Developmental And Epileptic Encephalopathy 89 |
|
Flexion contracture, Scoliosis, Narrow chest, Cleft palate, Omphalocele, Neonatal death, Death in... |
OMIM:619124 |
| Constricting Bands, Congenital |
|
Encephalocele, Gastroschisis, Abnormal rib cage morphology, Scoliosis, Bladder exstrophy, Cleft p... |
OMIM:217100 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Narrow vertebral interpedicular distance, Spinal canal stenosis, Unilateral renal agenesis, Hypop... |
OMIM:101800 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Absence of intrinsic factor |
OMIM:243320 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Platyspondyly |
ORPHA:168555 |
| Verheij Syndrome |
|
Vertebral fusion, Renal agenesis, Hip dislocation, Renal cyst, Short neck, Scoliosis, Renal hypop... |
OMIM:615583 |
| Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Bell-shaped thorax, Irregular vertebral endplates, Irregular chondrocostal junct... |
OMIM:187760 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Vesicoureteral reflux, Patent ductus arteriosus, Bifid tongue, Kyphosis, Camptodac... |
OMIM:616894 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Sclerotic cranial sutures, Arthropathy, Broad clavicles, Arthritis, Pterygium, Omphalocele, Carpa... |
ORPHA:371428 |
| Matthew-Wood Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Duodenal stenos... |
ORPHA:2470 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hyperlordosis, Enamel hypoplasia, Irregular vertebral endplates, Hip contracture, Advanced ossifi... |
OMIM:618363 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Patent ductus arteriosus, Vesicoureteral reflux, Microphallus, Renal cyst, Inguinal hernia, Conge... |
OMIM:618454 |
| Stuve-Wiedemann Syndrome 2 |
|
Thoracic hypoplasia, Camptodactyly, Scoliosis, Stillbirth, Death in adolescence, Dysphagia, Neona... |
OMIM:619751 |
| Isolated Hemihyperplasia |
|
Nephroblastoma, Myelomeningocele, Inguinal hernia, Scoliosis, Asymmetry of the thorax |
ORPHA:2128 |
| Osteogenesis Imperfecta, Type X |
|
Dentinogenesis imperfecta, Genu valgum, Thoracic hypoplasia, Multiple rib fractures, Tibial bowin... |
OMIM:613848 |
| Renal Agenesis |
|
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... |
ORPHA:411709 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Vesicoureteral reflux, Increased connective tissue, Atrophic scars, Unilateral renal agenesis, Jo... |
OMIM:606408 |
| Cenani-Lenz Syndrome |
|
Crossed fused renal ectopia, Renal hypoplasia/aplasia, Synostosis of carpal bones, Hip dislocatio... |
ORPHA:3258 |
| Non-Syndromic Anorectal Malformation |
|
Anorectal anomaly, Myelomeningocele, Ectopic anus, Hemisacrum, Persistent cloaca, Anal atresia, S... |
ORPHA:557 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
High palate, Sprengel anomaly, Scoliosis, Abnormal rib morphology, Hemivertebrae, Abnormal form o... |
ORPHA:2180 |
| Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Esophageal atresia, Unilateral renal agenesis, Anal atresia, Tracheoesophagea... |
OMIM:614083 |
| Duane-Radial Ray Syndrome |
|
Vesicoureteral reflux, Shoulder dislocation, Crossed fused renal ectopia, Renal malrotation, Fuse... |
OMIM:607323 |
| C Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the abdominal wall musculature, Multicystic kidney dysplasia... |
ORPHA:1308 |
| Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Pectus excavatum, Scoliosis, Platyspondyly, Pectus carinatum, Wormian bones, Beaded ribs |
OMIM:259440 |
| Acropectorovertebral Dysplasia |
|
Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Pect... |
ORPHA:957 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Missing ribs, Anal atresia, Abnormal rib morphology, Abnormally oss... |
ORPHA:3301 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polysplenia, Polycystic liver disease, Bowing of the long bones |
OMIM:211890 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, High palate, Midshaft hypospadias, Renal hypop... |
ORPHA:2863 |
| Diastrophic Dysplasia |
|
Camptodactyly of finger, Joint dislocation, Kyphosis, Elbow dislocation, Abnormal clavicle morpho... |
ORPHA:628 |
| Lowe-Kohn-Cohen Syndrome |
|
Anorectal anomaly, Nephropathy, Anal atresia |
ORPHA:2408 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Vertebral segmentation defect, Synostosis of carpal bones, Tarsal synost... |
ORPHA:1836 |
| Donnai-Barrow Syndrome |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Proteinuria, Omphalocele, Umbilical hernia |
ORPHA:2143 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Hyperlordosis, Gastroesophageal reflux, Recurrent urinary tract infections, Arthritis, Unilateral... |
ORPHA:221139 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Unilateral renal agenesis |
OMIM:618504 |
| Bladder Exstrophy |
|
Vesicoureteral reflux, Abnormality of the anus, Recurrent urinary tract infections, Hypoplasia of... |
ORPHA:93930 |
| Vater/Vacterl Association |
|
Patent ductus arteriosus, Vesicoureteral reflux, Abnormal sternum morphology, Renal dysplasia, Sp... |
OMIM:192350 |
| Diphallia |
|
Duplicated colon, Renal duplication, Abnormality of the gastrointestinal tract, Renal malrotation... |
ORPHA:227 |
| Kagami-Ogata Syndrome |
|
Coat hanger sign of ribs, Bell-shaped thorax, Diastasis recti, Thoracic hypoplasia, Hepatoblastom... |
ORPHA:254519 |
| Renpenning Syndrome |
|
Anal atresia, Pectus excavatum, Hypospadias, Sprengel anomaly, Abnormal rib morphology, Cleft pal... |
ORPHA:3242 |
| Grant Syndrome |
|
Joint dislocation, Narrow chest, Abnormality of the glenoid fossa, Abnormal pelvic girdle bone mo... |
ORPHA:2097 |
| Congenital Primary Megaureter |
|
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... |
ORPHA:617 |
| Schneckenbecken Dysplasia |
|
Anterior rib cupping, Advanced ossification of carpal bones, Thoracic hypoplasia, Short ribs, Nar... |
OMIM:269250 |
| Non-Syndromic Posterior Hypospadias |
|
Esophageal atresia, Displacement of the urethral meatus, Urethral diverticulum, Ventral shortenin... |
ORPHA:95706 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Sacral dimple, Camptodactyly of finger, Patent ductus arteriosus, High palate, Camptodactyly of t... |
ORPHA:261337 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Cystic renal dysplasia, Hypoplastic colon, Short neck, Omphalocele, Hypoplasia o... |
OMIM:200995 |
| Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Unossified sacrum, Bell-shaped thorax, Thoracic... |
OMIM:608022 |
| Sifrim-Hitz-Weiss Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Fused cervical vertebrae, Flat acetabular roof, ... |
OMIM:617159 |
| Spondylometaphyseal Dysplasia, Axial |
|
Thoracic hypoplasia, Anterior rib cupping, Scoliosis, Platyspondyly, Narrow chest |
OMIM:602271 |
| Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the anus, Ectopic anus, Death in infancy, Spina bifi... |
ORPHA:2308 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Horizontal ribs, Hepatic fibrosis, Preaxial hand polydactyly, Postaxial polysyndactyly of foot, D... |
OMIM:263520 |
| Thakker-Donnai Syndrome |
|
Anal atresia, Tracheoesophageal fistula, Congenital diaphragmatic hernia, Short neck, Hemivertebr... |
ORPHA:1780 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Hip contracture, High palate, Short ribs, Degeneration of anterior horn... |
ORPHA:1145 |
| Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Recurrent urinary tract infections, Velopharyngeal insufficiency, Unila... |
OMIM:613680 |
| Cartilage-Hair Hypoplasia |
|
Prominent sternum, Esophageal atresia, Malabsorption, Aganglionic megacolon, Narrow vertebral int... |
OMIM:250250 |
| Otopalatodigital Syndrome, Type Ii |
|
Delayed closure of the anterior fontanelle, Elbow contracture, Pectus excavatum, Short neck, Clef... |
OMIM:304120 |
| Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Genu valgum, Joint dislocation, Hernia, Short thorax, Kyphosis, Grayish enamel, Sp... |
ORPHA:582 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Patellar dislocation, Multiple joint dislocation, Narrow vertebral... |
OMIM:618395 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Nephroblastoma, Kyphosis, Enlarged kidney, Pectus excavatum, Inguinal hernia, Umbi... |
OMIM:618272 |
| Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... |
ORPHA:263665 |
| Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Hypoplasia of the bladder, High palate, Recurrent urinary tract inf... |
OMIM:614527 |
| Miller-Dieker Lissencephaly Syndrome |
|
Sacral dimple, Joint contracture of the hand, Camptodactyly, Abnormality of the abdominal wall, I... |
OMIM:247200 |
| Thanatophoric Dysplasia, Type Ii |
|
Short ribs, Wide-cupped costochondral junctions, Platyspondyly, Narrow chest, Neonatal death, Sma... |
OMIM:187601 |
| Trisomy 18 |
|
Camptodactyly of finger, Hernia, Narrow palate, Esophageal atresia, Spina bifida, Abnormality of ... |
ORPHA:3380 |
| Coach Syndrome 1 |
|
Multiple small medullary renal cysts, Encephalocele, Stage 5 chronic kidney disease, Esophageal v... |
OMIM:216360 |
| Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Steatorrhea, Exocrine pancreatic insufficiency |
OMIM:615935 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Hypoplasia of penis, Hernia of the abdominal wall, Short neck, Abnormal rib morphology,... |
ORPHA:3082 |
| Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysraphism, Renal hypoplasia/aplasia... |
ORPHA:1926 |
| Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Hyperlordosis, Multicystic kidney dysplasia, Camptodactyly, Anteriorly placed ... |
OMIM:619980 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Pectus excavatum, Inguinal hernia, Scoliosis, Prominent metopic ridge |
ORPHA:457284 |
| Codas Syndrome |
|
Enamel hypoplasia, Genu valgum, Gastroesophageal reflux, Lumbar scoliosis, Hypoplasia of the odon... |
OMIM:600373 |
| Mosaic Trisomy 8 |
|
Camptodactyly of finger, Vesicoureteral reflux, High palate, Patellar aplasia, Narrow chest, Vert... |
ORPHA:96061 |
| Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Inguinal hernia, Scoliosis, Umbilical hernia, Hepa... |
OMIM:252900 |
| Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Genu valgum, Broad clavicles, Dermatan sulfate excretion in urine, Spatulate ribs,... |
OMIM:619698 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Spo... |
ORPHA:1876 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the elbow, Renal dysplasia, Renal hypoplasia/aplasia... |
ORPHA:3015 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Death in infancy, Delayed ossification of carpal bones, Anal atresia, Pectus excavatum, Dislocate... |
OMIM:617425 |
| Van Maldergem Syndrome 1 |
|
Sacral dimple, High palate, Narrow chest, Camptodactyly, Anal atresia, Wide cranial sutures, Hypo... |
OMIM:601390 |
| Dubowitz Syndrome |
|
Sacral dimple, Delayed cranial suture closure, High palate, Malabsorption, Submucous cleft hard p... |
ORPHA:235 |
| Baller-Gerold Syndrome |
|
Vesicoureteral reflux, High palate, Abnormal carpal morphology, Malabsorption, Anal atresia, Ante... |
ORPHA:1225 |
| Cenani-Lenz Syndactyly Syndrome |
|
Enamel hypoplasia, Renal agenesis, Radioulnar synostosis, Pectus excavatum, Ectopic kidney, Metac... |
OMIM:212780 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Polysplenia, Malforma... |
OMIM:208540 |
| Distal Monosomy 10Q |
|
Patent ductus arteriosus, Vesicoureteral reflux, High palate, Acute kidney injury, Hip dislocatio... |
ORPHA:96148 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal cord compression, Vertebral fusion, Spinal instability |
OMIM:251250 |
| Acalvaria |
|
Spina bifida, Cleft palate, Omphalocele |
ORPHA:945 |
| Vacterl With Hydrocephalus |
|
Femoral hernia, Absence of the sacrum, Renal hypoplasia/aplasia, Spina bifida, Arrhinencephaly, R... |
ORPHA:3412 |
| Marshall-Smith Syndrome |
|
Atlantoaxial dislocation, Pectus excavatum, Glossoptosis, Short sternum, Cervical cord compressio... |
OMIM:602535 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Abnormal odontoid tissue morphology, Neoplasm of the rectum, Colon cancer, ... |
ORPHA:401911 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Renal cyst, Hydranencephaly, Short neck, Stillbirth, Renal hy... |
OMIM:236500 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Volvulus, Aganglionic megacolon, Anal atresia, Duodenal stenosis, T... |
ORPHA:210122 |
| Becker Nevus Syndrome |
|
Hemivertebrae, Pectus excavatum, Scoliosis, Cervical ribs |
OMIM:604919 |
| Exstrophy-Epispadias Complex |
|
Absent penis, Renal dysplasia, Bladder fistula, Abnormality of the abdominal wall, Abnormality of... |
ORPHA:322 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Gastroesophageal reflux, Multicystic kidney dysplasia, Pyloric stenosis, Abnormal vertebral morph... |
ORPHA:261197 |
| Recombinant 8 Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Abnormal sternum morphology, Patellar aplasia,... |
ORPHA:96167 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Inguinal hernia, Aganglionic megacolon, Anal atresia, Hydronephrosis |
OMIM:235760 |
| Acrorenal-Mandibular Syndrome |
|
Narrow palate, Abnormal sacral segmentation, High palate, Narrow chest, Polycystic kidney dysplas... |
OMIM:200980 |
| Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Median cleft lip, Split foot, Sp... |
DECIPHER:46 |
| Donnai-Barrow Syndrome |
|
Short sternum, Non-acidotic proximal tubulopathy, Intestinal malrotation, Congenital diaphragmati... |
OMIM:222448 |
| Spinal Arteriovenous Metameric Syndrome |
|
Urinary bladder sphincter dysfunction, Abnormality of the kidney, Abnormal spinal cord morphology... |
ORPHA:53721 |
| Achondrogenesis, Type Ib |
|
Absent or minimally ossified vertebral bodies, Short ribs, Inguinal hernia, Stillbirth, Narrow ch... |
OMIM:600972 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hydronephrosis, Flexion contracture, Thoracic hypoplasia, Short ribs, Multiple rib fractures, Sho... |
OMIM:616897 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Camptodactyly of finger, Cleft palate, Short neck, Ectopic anus |
ORPHA:2994 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal joint morphology, Abnormal carpal... |
ORPHA:93351 |
| Anus, Imperforate |
|
Hypospadias, Anal atresia, Ectopic anus |
OMIM:301800 |
| Penoscrotal Transposition |
|
Patellar aplasia, Renal dysplasia, Penoscrotal transposition, Renal agenesis, Abnormality of the ... |
ORPHA:2842 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Camptodactyly of finger, Knee flexion contracture, Multiple joint contractures, Microphallus, Cra... |
ORPHA:468631 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Absent or minimally ossified vertebral bodies, Short thorax, Bifid tongue, Ectopic anus, Short ri... |
ORPHA:93271 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate |
OMIM:137215 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Genu valgum, Anterior rib cupping, Hypoplasia of the odontoid process, Inguinal he... |
OMIM:184250 |
| Dextrocardia |
|
Pancreatic hypoplasia, Abnormality of abdominal situs, Intestinal malrotation, Congenital hip dis... |
ORPHA:1666 |
| Meckel Syndrome, Type 2 |
|
Meningocele, Encephalocele, Anencephaly, Renal cyst, Intestinal malrotation, Cleft palate, Omphal... |
OMIM:603194 |
| Fraser Syndrome |
|
Anal stenosis, Urethral atresia, Multicystic kidney dysplasia, Encephalocele, Myelomeningocele, E... |
ORPHA:2052 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Patent ductus arteriosus, Abnormal sternum morphology, Flexion contracture, Camptodactyly, Unilat... |
ORPHA:487796 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Aplasia/Hypoplasia of the tongue, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal ... |
ORPHA:2759 |
| Seckel Syndrome 8 |
|
Ectopic kidney, Spinal cord compression, Kyphoscoliosis |
OMIM:615807 |
| Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Camptodactyly of finger, Multicystic kidney dysplasia, Bifid tongue, Kyphosis, Dea... |
ORPHA:1507 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Pectus carinatum, High palate, Kyphosis, Renal hypoplasia/aplas... |
ORPHA:958 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele, Abnormal scapula morphology |
ORPHA:2141 |
| Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Ectopic anus |
ORPHA:1643 |
| Alagille Syndrome |
|
Nephrotic syndrome, Butterfly vertebral arch, Vertebral segmentation defect, Renal hypoplasia/apl... |
ORPHA:52 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hip dislocation, Omphalocele, Macroglossia, Wormian bones |
OMIM:614450 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hypoperistalsis, Death in infancy, Abnormality of the gastrointesti... |
ORPHA:2241 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Pectus excavatum, Short femur, ... |
OMIM:607778 |
| Achondrogenesis Type 1B |
|
Short thorax, Femoral hernia, Narrow chest, Short neck, Abnormal rib morphology, Umbilical hernia |
ORPHA:93298 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Hypoplasia of penis, Tracheoesophageal fistula, Abnormal rib morphology, Pectus ca... |
ORPHA:3068 |
| Fg Syndrome Type 1 |
|
Sacral dimple, Gastroesophageal reflux, Abnormal sternum morphology, High palate, Abnormal large ... |
ORPHA:93932 |
| Becker Nevus Syndrome |
|
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Rib fusion, Scoliosis, Lipo... |
ORPHA:64755 |
| Autosomal Dominant Cutis Laxa |
|
Delayed cranial suture closure, Hernia, Bladder diverticulum, Unilateral renal agenesis, Pyelonep... |
ORPHA:90348 |
| Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Dislocated radial ... |
OMIM:305620 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Death in infancy, Spina bifida, Vertebral segmentation defect, Congenit... |
ORPHA:1120 |
| Holoprosencephaly |
|
Omphalocele, Gastroesophageal reflux, Spinal dysraphism, Encephalocele, Branchial anomaly, Spinal... |
ORPHA:2162 |
| Axial Spondylometaphyseal Dysplasia |
|
Flared, irregular rib ends, Thoracic hypoplasia, Short ribs, Posterior wedging of vertebral bodie... |
ORPHA:168549 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Gastroesophageal reflux, Cleft soft palate, Kyphosis, Recurrent urinary tract infe... |
ORPHA:268261 |
| Mucopolysaccharidosis Type 6 |
|
Genu valgum, Hernia, Kyphosis, Macroglossia, Short neck, Ovoid vertebral bodies, Mucopolysacchari... |
ORPHA:583 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Kyphosis, Hypoplasia of penis, Abnormality of the ureter, Short neck, Fl... |
ORPHA:3409 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic hypoplasia, Short ribs, Lateral clavicle hook, Narrow chest, Omphalocele |
OMIM:617895 |
| Okamoto Syndrome |
|
Anal stenosis, Urinary incontinence, Gastroesophageal reflux, Exaggerated median tongue furrow, S... |
ORPHA:2729 |
| 8Q24.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Gastroesophageal reflux, Dysphagia, Abnormality ... |
ORPHA:508488 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Sacral dimple, Gastroesophageal reflux, High palate, Anal atresia, Prominent metopic ridge, Abnor... |
OMIM:613792 |
| Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
| Hypophosphatasia, Infantile |
|
Vertebral clefting, Phosphoethanolaminuria, Elevated urine pyrophosphate, Short ribs, Death in in... |
OMIM:241500 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... |
ORPHA:103918 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Flexion contracture, Thoracic hypoplasia, Spinal dysraphism, Camptodactyly, Pectus e... |
ORPHA:96334 |
| Acropectorovertebral Dysplasia |
|
Capitate-hamate fusion, Abnormal thorax morphology, Synostosis of carpal bones, Spina bifida occu... |
OMIM:102510 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Esophageal atresia, Missing ribs, Tracheoesophageal fistula, Short neck, Lumbar hemivertebrae, Co... |
OMIM:619859 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Delayed cranial suture closure, Short thorax, Aplastic clavicle, Kyphosis, Ectopic anus, Coronal ... |
ORPHA:85199 |
| Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Cleft upper lip, Joint contracture of the hand, Anterior hypopituitarism, Camptodactyly, Overlapp... |
OMIM:601016 |
| Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Hernia, Kyphoscoliosis, Dysphagia, Beaking of vert... |
OMIM:252930 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Neonatal death, Flexion contracture, Kyphosis |
OMIM:618237 |
| Poland Syndrome |
|
Spina bifida occulta, Short neck, Abnormal rib morphology, Absence of subcutaneous fat, Vesicoure... |
ORPHA:2911 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
High palate, Kyphosis, Camptodactyly, Anal atresia, Pectus excavatum, Intestinal malrotation, Con... |
OMIM:617602 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Patellar dislocation, Capitate-hamate fusion, Short foot, Short metacarpa... |
OMIM:614078 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Anal atresia, Abnormality of the upper urinary tract, Abnormal sacroiliac joint morphology |
ORPHA:1807 |
| Mucopolysaccharidosis, Type Ivb |
|
Chondroitin sulfate excretion in urine, Hyperlordosis, Genu valgum, Kyphosis, Prominent sternum, ... |
OMIM:253010 |
| Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Bifid tongue, Renal hypoplasia/aplasia, Abnormal rib morphology... |
ORPHA:2167 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Abnormal thorax morphology, Widening of cervical spinal c... |
OMIM:253310 |
| Bartsocas-Papas Syndrome 1 |
|
Flexion contracture, Pterygium, Anal atresia, Arthrogryposis multiplex congenita, Axillary pteryg... |
OMIM:263650 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Fused cervical vertebrae, Short neck, Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion |
OMIM:214300 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral junction, Capitate-hamate fusio... |
OMIM:271650 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Hypospadias, Abnormal clavicle morphology |
ORPHA:276422 |
| Smith-Lemli-Opitz Syndrome |
|
Hip subluxation, Bifid uvula, Hip dislocation, Cleft palate, Sacral dimple, Microglossia, Hydrone... |
OMIM:270400 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Enterocolitis, Jejunal atresia, Death in infancy, Intestinal atresia, Hematoch... |
OMIM:243150 |
| Cockayne Syndrome Type 3 |
|
Enamel hypoplasia, Gastroesophageal reflux, Flexion contracture, Urinary retention, Kyphosis, Neu... |
ORPHA:90324 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Morphological abnormality of the gastrointestinal tract, Aplasia/Hypopla... |
ORPHA:2990 |
| Bruck Syndrome 2 |
|
Knee flexion contracture, Flexion contracture, Elbow flexion contracture, Pterygium, Hydroxyproli... |
OMIM:609220 |
| Focal Dermal Hypoplasia |
|
Bifid ureter, Spina bifida occulta, Cleft palate, Short ribs, Congenital hip dislocation, Omphalo... |
OMIM:305600 |
| Poland Syndrome |
|
Sprengel anomaly, Hemivertebrae, Rib fusion, Short ribs |
OMIM:173800 |
| Hadziselimovic Syndrome |
|
Renal hypoplasia, High palate, Anal atresia |
OMIM:612946 |
| 3M Syndrome |
|
Horizontal ribs, Hyperlordosis, Enlarged thorax, Short thorax, Increased vertebral height, Abnorm... |
ORPHA:2616 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b... |
OMIM:265000 |
| Townes-Brocks Syndrome 2 |
|
Vesicoureteral reflux, Crossed fused renal ectopia, Anal atresia, Spina bifida occulta, Hypospadi... |
OMIM:617466 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Knee flexion contracture, 2-3 toe syndactyly, Metaphyseal irregularity, High palate, Ulnar deviat... |
OMIM:618162 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Split foot, Widely-spaced maxillary central incisors, Cryptorchidism, Cleft pala... |
OMIM:601349 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Fused cervical vertebrae, Vertebral segmentation defect, Abnormality ... |
ORPHA:1724 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Horizontal ribs, Short tibia, Short ribs, Long thorax, Anal atresia, Esophageal diverticulum, Sho... |
OMIM:617925 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Patent ductus arteriosus, Myelomeningocele, Absence of the sacrum, Block vertebrae, Enlarged kidn... |
OMIM:306955 |
| Kniest Dysplasia |
|
Bell-shaped thorax, Short thorax, Arthropathy, Anterior vertebral fusion, Fused cervical vertebra... |
ORPHA:485 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
High palate, Pyloric stenosis, Bilateral cryptorchidism, Pectus excavatum, Craniosynostosis |
ORPHA:314575 |
| Van Der Woude Syndrome |
|
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
| Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Metaphyseal cupping, Thoracic hypoplasia, Hypoplastic pubic bone, Hypoplastic... |
OMIM:614524 |
| Meier-Gorlin Syndrome 7 |
|
Vesicoureteral reflux, Sagittal craniosynostosis, High palate, Vertebral segmentation defect, Ure... |
OMIM:617063 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Joint contracture of the hand, Hypodontia, Bifid uvula, Camptodactyly, Syndactyly,... |
OMIM:603543 |
| Opitz-Kaveggia Syndrome |
|
Sacral dimple, Delayed closure of the anterior fontanelle, Narrow palate, Multiple joint contract... |
OMIM:305450 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Dentinogenesis imperfecta, Delayed closure of the anterior fontanelle, Epiphyseal streaking, Clin... |
OMIM:604922 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Cleft palate, Ankyloglossia, Bifid uvula |
OMIM:303400 |
| Sirenomelia |
|
Absence of the sacrum, Renal hypoplasia/aplasia, Spina bifida, Anal atresia, Tracheoesophageal fi... |
ORPHA:3169 |
| Pallister-Hall Syndrome |
|
Patent ductus arteriosus, Distal arthrogryposis, Renal dysplasia, Bilateral renal agenesis, Arrhi... |
ORPHA:672 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal rib morphology, Short neck, Abnormality of the elbow, Abnormal form of the vertebral bodies |
ORPHA:1486 |
| Marden-Walker Syndrome |
|
Abnormal sternum morphology, High palate, Kyphosis, Joint contracture of the hand, Pyloric stenos... |
OMIM:248700 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Flat acetabular roof, Delayed ossification of carpal bones, Cupped... |
OMIM:609616 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hiatus hernia, Abnormality of the lower urinary tract, Hernia, Abnormal rectum morphology |
ORPHA:101009 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Hepatic fibrosis, High palate, Short ribs, Short lingual frenulum, Microdontia, Shor... |
OMIM:614091 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, High palate, Pectus excavatum, Congenital hip dislocation, Ureteral tri... |
OMIM:104350 |
| Digeorge Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, High palate, Patellar dislocation, Renal dyspl... |
OMIM:188400 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Supernumerary ribs, Hypoplasia of the ulna, Short femur, Narrow mouth,... |
OMIM:612447 |
| Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Kyphosis, Death in infancy, Hypoplastic vertebral bodies, Inguinal hernia, Short ... |
OMIM:230500 |
| Holzgreve Syndrome |
|
Renal hypoplasia, Renal agenesis |
OMIM:236110 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Vertebral segmentation defect, Missing ribs, Abnormal localization of k... |
ORPHA:3186 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Craniosynostosis, Unilateral renal agenesis |
ORPHA:1064 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Gastroesophageal reflux, Patent ductus arteriosus after birth at term,... |
ORPHA:500150 |
| Cat Eye Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Rectal fistula, Rectal atresia, Volvulus, Renal ... |
OMIM:115470 |
| Coloboma Of Macula And Skeletal Anomalies |
|
Genu valgum, Coxa valga, Hallux valgus, Recurrent patellar dislocation, Cleft palate, Contracture... |
OMIM:216800 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, High palate, Unilateral renal agenesis |
OMIM:308750 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Ganglioneuroma |
|
Colorectal polyposis, Multiple intestinal neurofibromatosis, Gastrointestinal hemorrhage, Hamarto... |
ORPHA:251992 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Thoracic hypoplasia, Hypoplastic pubic bone, Short long bone, Flat acetabu... |
OMIM:608728 |
| Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, High palate, Cervical ribs, Pectus excavatum, Cleft palate, Pectus carinatum |
OMIM:609654 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Sacral dimple, Patent ductus arteriosus, Renal dysplasia, Bifid uvula, Hip dislocation, Anal atre... |
OMIM:300968 |
| Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Vertebral fusion, Renal duplication, Narrow palate, Kyphosis, Vertebral se... |
ORPHA:96169 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myelomeningocele, Contracture of the proximal interphalangeal joint of the 5th finger, Inguinal h... |
OMIM:620141 |
| Scarf Syndrome |
|
Short sternum, Enamel hypoplasia, Diastasis recti, Hepatocellular adenoma, Inguinal hernia, Short... |
ORPHA:3134 |
| Charge Syndrome |
|
Dysphagia, Abnormal rib morphology, Cleft palate, Radial head subluxation, Esophageal atresia, Ab... |
OMIM:214800 |
| Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Patent ductus arteriosus, Lobulated tongue, Hypoplasia of the bladder, P... |
OMIM:249000 |
| Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Meningocele, Biconcave vertebral bodies, Vertebral fusion, High palate,... |
OMIM:130720 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Alg9-Cdg |
|
Delayed cranial suture closure, Gastroesophageal reflux, Hypoplasia of the bladder, Villous atrop... |
ORPHA:79328 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia, Large placenta, Omphalocele, Umbi... |
ORPHA:254534 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Congenital diaphragmatic hernia, ... |
ORPHA:63260 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, High palate, Vertebral segmentation defect, Butterfly vertebrae, Campt... |
OMIM:611209 |
| Shprintzen Omphalocele Syndrome |
|
Kyphosis, Anal atresia, Scoliosis, Narrow chest, Omphalocele, Lumbar hyperlordosis |
OMIM:182210 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Pagod Syndrome |
|
Meningocele, Multicystic kidney dysplasia, Encephalocele, Death in infancy, Renal hypoplasia/apla... |
ORPHA:991 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Knee flexion contracture, Enamel hypoplasia, Delayed cranial suture closure, Proximal symphalangi... |
OMIM:151050 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Macroglossia, Umbilical hernia |
OMIM:275100 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Elbow dislocation, Phocomelia, Hepatomegaly, Ectrodactyly, Absent hand, Esophageal atresia, Abnor... |
ORPHA:2538 |
| Van Maldergem Syndrome 2 |
|
Sacral dimple, Hip subluxation, High palate, Narrow chest, Inguinal hernia, Hypospadias, Wide cra... |
OMIM:615546 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Sclerotic scapulae, Short femur, L... |
OMIM:601376 |
| Ellis-Van Creveld Syndrome |
|
Horizontal ribs, Hypoplastic iliac wing, Cleft upper lip, Genu valgum, Natal tooth, Delayed erupt... |
OMIM:225500 |
| Apert Syndrome |
|
Delayed cranial suture closure, Sagittal craniosynostosis, Pectus carinatum, Limited elbow moveme... |
OMIM:101200 |
| Sacral Defect With Anterior Meningocele |
|
Meningocele, Back pain, Myelomeningocele, Urinary retention, Anterior sacral meningocele, Absence... |
OMIM:600145 |
| Bronchogenic Cyst |
|
Abnormal esophagus morphology, Abnormal stomach morphology, Abnormality of the peritoneum, Dysphagia |
ORPHA:2357 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology, Flexion contracture, Increased laxity of ankles, Scoliosis |
ORPHA:99947 |
| Classical Ehlers-Danlos Syndrome |
|
Shoulder dislocation, Gastroesophageal reflux, Patellar dislocation, Osteoarthritis, Incisional h... |
ORPHA:287 |
| Schwartz-Jampel Syndrome |
|
Wrist flexion contracture, Elbow dislocation, Pectus excavatum, Abnormality of the ureter, Short ... |
ORPHA:800 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Ectopic kidney, Abnormality of the vertebral column, Abnormal vertebral morphology, Cleft palate |
OMIM:239800 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Thin clavicles, Small hand, Stenosis of the medullary cavity of t... |
ORPHA:93324 |
| Thanatophoric Dysplasia, Type I |
|
Thoracic hypoplasia, Severe platyspondyly, Short ribs, Femoral bowing, Wide-cupped costochondral ... |
OMIM:187600 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Anterior rib cupping... |
OMIM:260400 |
| Ruvalcaba Syndrome |
|
Abnormality of the elbow, Kyphosis, Synostosis of carpal bones, Hematuria, Inguinal hernia, Abnor... |
ORPHA:3121 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Patent ductus arteriosus, Esophageal atresia, Hypoplasia of penis, Abnormal ver... |
ORPHA:77298 |
| Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Splenomegaly |
ORPHA:664 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Abnormality of the ischium, Abnormality of femur morphology, Abnormal t... |
ORPHA:464329 |
| Ivic Syndrome |
|
Patent ductus arteriosus, Limited elbow movement, Radioulnar synostosis, Carpal synostosis, Carpa... |
OMIM:147750 |
| Nager Syndrome |
|
Cleft palate, Unilateral renal agenesis |
ORPHA:245 |
| Joint Laxity, Short Stature, And Myopia |
|
Multiple joint dislocation, Cervical kyphosis, Inguinal hernia, Kyphoscoliosis, Pectus carinatum,... |
OMIM:617662 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Patent ductus arteriosus, High palate, Renal dysplasia, Spina bifida, Su... |
ORPHA:99776 |
| Igg4-Related Submandibular Gland Disease |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Cholangitis, Abnormality of the submandibular... |
ORPHA:449432 |
| Achondrogenesis Type 1A |
|
Short thorax, Femoral hernia, Multiple rib fractures, Short neck, Narrow chest, Umbilical hernia |
ORPHA:93299 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Severe platyspondyly, Femoral bowing, Cupped ribs, Ovoid vertebral bodies, Scoliosis, Platyspondy... |
OMIM:608940 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Kyphosis, Abnormality of the kidney, Aganglionic megacolon, Renal agenesis... |
ORPHA:261222 |
| Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Pyloric stenosis, Abnormal platelet morphology, Abnormal intestine morpho... |
ORPHA:2978 |
| Hurler Syndrome |
|
Camptodactyly of finger, Hernia, Abnormality of the elbow, Death in infancy, Spinal canal stenosi... |
ORPHA:93473 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hypospadias, Abnormality of the ureter, Hypoplasia of penis |
ORPHA:1046 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Non-midline cleft lip, Finger syndactyly, Abnormal metacarpal morphology, Abnormal pelvic girdle ... |
ORPHA:3429 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Patellar dislocation, Abnormality of the kidney, Fused cervical vertebrae, Hip disloc... |
ORPHA:3320 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Thoracic hypoplasia, Severe platyspondyly, Short ribs, Flat acetabular roof, Short neck, Ovoid ve... |
OMIM:151210 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Aplasia/Hypoplasia of the pancreas, Joint contracture of the hand, Abnormal hallux morphology, Co... |
ORPHA:456312 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
| Beta-Ureidopropionase Deficiency |
|
Bladder exstrophy, Anal atresia, Scoliosis |
OMIM:613161 |
| Occipital Horn Syndrome |
|
Short clavicles, Genu valgum, Pectus carinatum, High palate, Kyphosis, Capitate-hamate fusion, Br... |
OMIM:304150 |
| Williams Syndrome |
|
Peptic ulcer, Colonic diverticula, Patellar dislocation, Abnormality of the bladder, Spina bifida... |
ORPHA:904 |
| Osteogenesis Imperfecta, Type Xv |
|
Thin ribs, Scoliosis, Platyspondyly |
OMIM:615220 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft palate, Cleft lip, Cryptorchidism |
OMIM:612370 |
| Xylt1-Cdg |
|
Joint dislocation, Coxa valga, Long philtrum, Short femoral neck, Short long bone, Clinodactyly, ... |
ORPHA:370930 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Ectopic kidney, Inguinal hernia, Renal hypoplasia, Micropenis |
OMIM:616541 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Downturned corners of mouth, Brachydactyly, Abnormal rib morphology, Abnormal ... |
ORPHA:2643 |
| Aredyld Syndrome |
|
Lipoatrophy, Abnormality of the ureter, Scoliosis, Abnormal dental enamel morphology |
ORPHA:1133 |
| Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Thoracolumbar scoliosis, Congenital megaureter, Myelomeningocele, High palate,... |
ORPHA:2437 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Delayed ossification of carpal bones, Anteriorly placed anus, Cleft palate... |
OMIM:239300 |
| Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Absence of intrinsic factor, Increased RBC distribution width, Increased me... |
OMIM:261000 |
| Cartilage-Hair Hypoplasia |
|
Sacral dimple, Hyperlordosis, Biconvex vertebral bodies, Aplasia/Hypoplasia of the abdominal wall... |
ORPHA:175 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
| Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Craniosynostosis, Ectopic anus |
ORPHA:2866 |
| Smith-Magenis Syndrome |
|
Gastroesophageal reflux, Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormal localizati... |
ORPHA:819 |
| Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Death in infancy, Esophageal atresia, Renal agenesis, Abnormal vertebra... |
OMIM:300514 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Micropenis, High palate, Unilateral renal agenesis |
OMIM:308700 |
| Achondrogenesis, Type Ii |
|
Horizontal ribs, Short ribs, Absent vertebral body mineralization, Barrel-shaped chest, Stillbirt... |
OMIM:200610 |
| Juberg-Hayward Syndrome |
|
Anteriorly placed anus, Abnormal carpal morphology, Horseshoe kidney, Limited elbow extension |
OMIM:216100 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Knee flexion contracture, Tapered finger, Hip contracture, Small hand, Ankyloglossia, Clinodactyl... |
ORPHA:488642 |
| White Forelock With Malformations |
|
Spina bifida occulta, Sprengel anomaly, Abnormal rib morphology |
ORPHA:2475 |
| Marden-Walker Syndrome |
|
Camptodactyly of finger, Renal dysplasia, Bifid uvula, Pectus excavatum, Abnormality of the urina... |
ORPHA:2461 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
High palate, Abnormality of the ureter, Genu valgum, Umbilical hernia |
ORPHA:1035 |
| Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Flexion contracture, Joint dislocation, Abnormal cervical curvature, Multiple p... |
OMIM:312150 |
| Lymphangiectasia, Intestinal |
|
Malabsorption, Prominent floating ribs, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Spinal dysraphism, Absence of the sacrum, Bifid uvula, Butterfly vertebrae... |
OMIM:617660 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Anal atresia, Hypospadias, Hypoplasia of penis, Genu valgum |
ORPHA:1381 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Kyphosis, Abnormality of the kidney, Abnormality of the upper urinary tr... |
ORPHA:2273 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
High palate, Patellar dislocation, Coxa vara, Patellar hypoplasia, Patellar aplasia, Flat capital... |
OMIM:147891 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
High palate, Aganglionic megacolon, Bifid uvula, Pectus excavatum, Anteriorly placed anus, Short ... |
ORPHA:247262 |
| Cerebrocostomandibular Syndrome |
|
Meningocele, Bell-shaped thorax, Multicystic kidney dysplasia, Myelomeningocele, Kyphosis, Death ... |
ORPHA:1393 |
| Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Heparan sulfate excretion in urine |
OMIM:252920 |
| Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... |
ORPHA:199306 |
| Trisomy 12P |
|
Abnormality of the urinary system, Cleft palate, Short neck, Anal atresia |
ORPHA:1699 |
| Branchioskeletogenital Syndrome |
|
Abnormality of the cervical spine, Unilateral cleft palate, Abnormality of the vertebral spinous ... |
ORPHA:1299 |
| Tetrasomy 12P |
|
Abnormal soft palate morphology, Short neck, Anal atresia |
ORPHA:884 |
| Igg4-Related Thyroid Disease |
|
Retroperitoneal fibrosis, Nodular goiter, Sclerosing cholangitis, Pancreatic fibrosis, Sialadenit... |
ORPHA:64744 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Craniosynostosis, Abnormality of the upper urinary tract, Abnormal rib morphology, Cleft palate, ... |
ORPHA:2145 |
| Phaver Syndrome |
|
Camptodactyly of finger, Myelomeningocele, Pterygium, Butterfly vertebrae, Radioulnar synostosis,... |
ORPHA:2876 |
| Feingold Syndrome 1 |
|
Asplenia, 2-3 toe syndactyly, Short toe, High palate, Jejunal atresia, Gastrointestinal atresia, ... |
OMIM:164280 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Patent ductus arteriosus, Gastroesophageal reflux, Vertebral hypoplasia, Cervical kyphosis, Butte... |
ORPHA:79345 |
| Down Syndrome |
|
Narrow palate, Renal hypoplasia/aplasia, Aganglionic megacolon, Macroglossia, Anal atresia, Short... |
ORPHA:870 |
| Oculoskeletodental Syndrome |
|
Abnormal sternum morphology, Thoracic hypoplasia, Thoracic kyphosis, Elbow flexion contracture, R... |
OMIM:618440 |
| Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Hernia, Narrow chest, Vertebral segmentation defect, Short neck, Rib fusion, Scoliosi... |
ORPHA:1394 |
| Codas Syndrome |
|
Hydroureter, Congenital hip dislocation, Scoliosis, Abnormal form of the vertebral bodies, Corona... |
ORPHA:1458 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Delayed ossification of carpal bones, Abnormal vertebral morphology, Spinal cord compression, Cer... |
ORPHA:93346 |
| Orofaciodigital Syndrome Iv |
|
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Sho... |
OMIM:258860 |
| Bohring-Opitz Syndrome |
|
Gastroesophageal reflux, Short toe, Joint dislocation, Narrow palate, Tapered finger, Ulnar devia... |
OMIM:605039 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Crossed fused renal ectopia, Hydroureter, Anal ... |
OMIM:300707 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent ductus arteriosus, High palate, Anal atresia, Pectus excavatum, Short neck, Umbilical hernia |
OMIM:612582 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Genu valgum, Limited elbow movement, Kyphosis, Spinal rigidity, Flat acetabular roof, ... |
ORPHA:94068 |
| Kenny-Caffey Syndrome, Type 1 |
|
Delayed closure of the anterior fontanelle, Thin clavicles, Short foot, Small hand, Slender long ... |
OMIM:244460 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Flexion contracture, Anterior rib cupping, High palate, Prominent sternum, Thoracic kyphosis, Hyp... |
OMIM:300232 |
| Lateral Meningocele Syndrome |
|
Meningocele, Hyperlordosis, High palate, Kyphosis, Syringomyelia, Pectus excavatum, Wormian bones... |
ORPHA:2789 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Abnormality of the ankle, Abnormality of the wrist, Carpal synostos... |
ORPHA:2010 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Gastroesophageal reflux, Penile hypospadias, Abnormal thorax morphology, Hepatic hemangioma, Dysp... |
ORPHA:73230 |
| Holt-Oram Syndrome |
|
Patent ductus arteriosus, Kyphosis, Radioulnar synostosis, Down-sloping shoulders, Pectus excavat... |
ORPHA:392 |
| Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, High palate, Kyphosis, Coronal craniosynostosis, Pectus excavatum, Wid... |
OMIM:616294 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Patent ductus arteriosus, Ankle clonus, High palate, Hydroureter, Pectus excavatum, Renal cyst, U... |
OMIM:615398 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Cleft palate, Arthrogryp... |
OMIM:178110 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Anteriorly placed anus, Rectovaginal fistula, Renal agenesis, Unilateral renal agenesis |
OMIM:608980 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Omphalocele |
OMIM:601163 |
| Platyspondylic Dysplasia, Torrance Type |
|
Genu varum, Short thorax, Metaphyseal cupping, Abnormal carpal morphology, Short foot, Hypoplasti... |
ORPHA:85166 |
| Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate, Short humerus |
OMIM:191000 |
| Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Bell-shaped thorax, Short thorax, Short ribs, Broad clavicles, Narrow chest, ... |
OMIM:200600 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Cleft palate, Methylmalonic aciduria, Glossitis, Unilateral renal agenesis |
ORPHA:79284 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Irregular vertebral endplates, Anterior rib cupping, Abnormal... |
ORPHA:174 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Flexion contracture, Joint dislocation, Abnormal cervical curvature, Multiple p... |
OMIM:253290 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Atelosteogenesis, Type I |
|
11 pairs of ribs, Bell-shaped thorax, Neonatal death, Thoracic hypoplasia, Vertebral hypoplasia, ... |
OMIM:108720 |
| Anauxetic Dysplasia 3 |
|
Hip subluxation, Gastroesophageal reflux, Genu valgum, Femoral bowing, Pectus excavatum, Spinal c... |
OMIM:618853 |
| Vesicoureteral Reflux 3 |
|
Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G... |
OMIM:613674 |
| Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Osteochondritis dissecans, Camptodactyly, Elbow dislocation, Absent sternal ... |
OMIM:224690 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Genu valgum, Decreased testicular size, Small pituitary gland, Cryptorchidism, Cleft palate |
OMIM:614880 |
| Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip, Agenesis of pineal gland |
OMIM:614402 |
| Cleidocranial Dysplasia |
|
Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Abnormal rib morphology, Cl... |
ORPHA:1452 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Patent ductus arteriosus, Hernia, Anteriorly placed anus, Hypospadias, Short neck, Narrow chest, ... |
OMIM:217980 |
| Glycogen Storage Disease Ib |
|
Splenomegaly, Hepatocellular carcinoma, Gout, Inflammation of the large intestine, Pancreatic fib... |
OMIM:232220 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Renal hypoplasia/aplasia, Hypoplasia of penis, Anal atresia, Intestinal malrotatio... |
ORPHA:2166 |
| Dyggve-Melchior-Clausen Disease |
|
Genu valgum, Hypoplastic acetabulae, Short thorax, Pectus carinatum, Horizontal inferior border o... |
ORPHA:239 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Patent ductus arteriosus, Metopic synostosis, Neonatal death, Unilateral renal agenesis |
OMIM:620024 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Genu varum, Irregular vertebral endplates, D-2-hydroxyglutaric aciduria, Lumbar scoliosis, Multip... |
ORPHA:99646 |
| Pseudoachondroplasia |
|
Genu varum, Genu valgum, Kyphosis, Ulnar deviation of the wrist, Atlantoaxial dislocation, Hypopl... |
OMIM:177170 |
| Mucopolysaccharidosis, Type Vi |
|
Genu valgum, Flexion contracture, Broad ribs, Hypoplastic acetabulae, Pectus carinatum, Prominent... |
OMIM:253200 |
| Short Rib-Polydactyly Syndrome |
|
Horizontal ribs, Urogenital sinus anomaly, Absent or minimally ossified vertebral bodies, Short t... |
ORPHA:1505 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Hip dislocation, Steatorrhea, Hepatic steatosis, Pancreatic fibrosis, Proximal ... |
OMIM:616263 |
| Mosaic Trisomy 16 |
|
Patent ductus arteriosus, Abnormality of the cervical spine, Abnormality of the gastrointestinal ... |
ORPHA:1708 |
| Cerebrofacioarticular Syndrome |
|
Caudal appendage, Camptodactyly, Anteriorly placed anus, Hypospadias, Renal hypoplasia, Anal sten... |
ORPHA:314679 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, Absent thumb, High palate, Hypoplasia of the radius, Solitary median maxillary c... |
OMIM:602418 |
| Scarf Syndrome |
|
Short sternum, Enamel hypoplasia, Diastasis recti, Coronal craniosynostosis, Barrel-shaped chest,... |
OMIM:312830 |
| Coffin-Lowry Syndrome |
|
Delayed closure of the anterior fontanelle, Narrow palate, High palate, Kyphosis, Lumbar kyphosis... |
OMIM:303600 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, Congenital megaureter, High palate, Rectovesti... |
ORPHA:280633 |
| Osteogenesis Imperfecta, Type Ii |
|
Bell-shaped thorax, Thoracic hypoplasia, Tibial bowing, Platyspondyly, Thin ribs, Wormian bones, ... |
OMIM:166210 |
| Cockayne Syndrome |
|
Urinary incontinence, Enamel hypoplasia, Contractures of the large joints, Gastroesophageal reflu... |
ORPHA:191 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
| Microphthalmia, Syndromic 1 |
|
High palate, Joint contracture of the hand, High, narrow palate, Renal hypoplasia/aplasia, Hydrou... |
OMIM:309800 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Gastroesophageal reflux, Morgagni diaphragmatic hernia, Death in infancy, Pyloric stenosis, Multi... |
OMIM:613177 |
| Eiken Syndrome |
|
Pseudoepiphyses, Narrow pelvis bone, Flattened epiphysis, Delayed epiphyseal ossification, Erupti... |
OMIM:600002 |
| Ivic Syndrome |
|
Aplastic clavicle, Synostosis of carpal bones, Radioulnar synostosis, Anal atresia, Scoliosis, Re... |
ORPHA:2307 |
| Osteogenesis Imperfecta, Type Xviii |
|
Biconcave vertebral bodies, Femoral bowing, Umbilical hernia, Vertebral compression fracture, Wor... |
OMIM:617952 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sacral dimple, Gastroesophageal reflux, High palate, Recurrent urinary tract infections, Short ne... |
OMIM:617157 |
| Schinzel-Giedion Syndrome |
|
Abnormal thorax morphology, Camptodactyly, Hepatoblastoma, Abnormality of the ureter, Short neck,... |
ORPHA:798 |
| Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Ectopic anus, Pyloric stenosis, Hypoplasia of penis, Abnormality of the ... |
ORPHA:3138 |
| Osteogenesis Imperfecta, Type Iii |
|
Dentinogenesis imperfecta, Biconcave vertebral bodies, Protrusio acetabuli, Kyphosis, Tibial bowi... |
OMIM:259420 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology, Back pain, Abnormal form of the vertebral bodies |
ORPHA:83468 |
| Meckel Syndrome, Type 3 |
|
Polydactyly, Hepatic fibrosis, Malformation of the hepatic ductal plate, Postaxial foot polydacty... |
OMIM:607361 |
| Myhre Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Epispadias, Inguinal hernia, Hypospadias, Platyspondyly... |
ORPHA:2588 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Jejunal atresia, Kyphoscoliosis, Hypospadias, Ileal atresia, Omphalocel... |
OMIM:618820 |
| Apert Syndrome |
|
Narrow palate, Ectopic anus, Esophageal atresia, Vertebral segmentation defect, Bifid uvula, Clef... |
ORPHA:87 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Delayed cranial suture closure, Vesicoureteral reflux, High palate, Inguinal hernia, Anteriorly p... |
OMIM:618653 |
| Williams-Beuren Syndrome |
|
Flexion contracture, Colonic diverticula, Pectus excavatum, Celiac disease, Vesicoureteral reflux... |
OMIM:194050 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip subluxation, Flexion contracture, Cleft soft palate, Reduced subcutaneous adipose tissue, Elb... |
OMIM:619503 |
| Hypophosphatasia |
|
Craniosynostosis, Narrow chest, Abnormal metaphysis morphology, Bowing of the long bones, Abnorma... |
ORPHA:436 |
| Neurofaciodigitorenal Syndrome |
|
Abnormality of the elbow, Unilateral renal agenesis, Pectus excavatum |
ORPHA:2673 |
| 1P36 Deletion Syndrome |
|
11 pairs of ribs, Bifid ribs, Camptodactyly of finger, Delayed cranial suture closure, Patent duc... |
ORPHA:1606 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Flared, irregular rib ends, Genu varum, Pear-shaped vertebrae, Fem... |
OMIM:602111 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Spina bifida, Anencephaly, Gastroschisis, Cleft palate |
ORPHA:2476 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Anal atresia, Scoliosis |
OMIM:616875 |
| Fanconi Anemia |
|
Hip dislocation, Abnormality of the urinary system, Cleft palate, Aplasia/Hypoplasia of the uvula... |
ORPHA:84 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
| Three M Syndrome 2 |
|
Hyperlordosis, Short thorax, High palate, Lumbar hyperlordosis, Short neck, Scapular winging, Pec... |
OMIM:612921 |
| Cole-Carpenter Syndrome |
|
Kyphosis, Wormian bones, Scoliosis, Abnormal rib morphology, Abnormal form of the vertebral bodie... |
ORPHA:2050 |
| Bent Bone Dysplasia Syndrome 2 |
|
Short sternum, Short tibia, Hypoplastic acetabulae, Short ribs, Butterfly vertebrae, Arthrogrypos... |
OMIM:620076 |
| Townes-Brocks Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Urethral valve, Abnormality of the kidney, Recto... |
ORPHA:857 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Tarsal synostosis, Fused ... |
OMIM:618469 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Neoplasm of the rectum, Intestinal bleeding, Anal canal squamous cell carc... |
ORPHA:424019 |
| Hereditary Chronic Pancreatitis |
|
Recurrent pancreatitis, Jaundice, Pancreatic calcification, Leukocytosis |
ORPHA:676 |
| Meckel Syndrome, Type 5 |
|
Cleft upper lip, Postaxial foot polydactyly, Bile duct proliferation, Postaxial hand polydactyly,... |
OMIM:611561 |
| Brachyolmia Type 3 |
|
Kyphosis, Barrel-shaped chest, Spinal cord compression, Short neck, Scoliosis, Platyspondyly |
OMIM:113500 |
| 3Mc Syndrome 2 |
|
Partial abdominal muscle agenesis, Diastasis recti, High palate, Limited elbow movement, Caudal a... |
OMIM:265050 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, High palate, Microdontia, Abnormal metacarpal morphology, Abnorm... |
ORPHA:1307 |
| Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Lumbar hyperlordosis,... |
OMIM:223800 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Hyperlordosis, Short thorax, Inguinal hernia, Short neck, Abnormal form of the vertebral bodies, ... |
ORPHA:3218 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Hyperlordosis, Vertebral fusion, C2-C3 subluxation, Enamel hypoplasia, Capitate-hamate fusion, Bl... |
OMIM:272460 |
| Femoral-Facial Syndrome |
|
Gastroesophageal reflux, Hypoplastic acetabulae, Limited elbow movement, Humeroradial synostosis,... |
OMIM:134780 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Crohn's disease, Arthritis, Lymphopenia, Autoimmune thrombocytopenia, Autoimm... |
OMIM:616100 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Fibrous syngnathia, Non-midline cleft lip, Lip pit, Finger syndactyly, Toe syndactyly, Thin upper... |
ORPHA:1300 |
| Pearson Marrow-Pancreas Syndrome |
|
Anemia, Reticulocytopenia, Villous atrophy, Malabsorption, Refractory sideroblastic anemia, Sider... |
OMIM:557000 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst, Neonatal death |
OMIM:614870 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Urinary incontinence, Gastroesophageal reflux, Kyphosis, Lumbar hyperlordosis, Femoral bowing, Pl... |
OMIM:616482 |
| Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Vertebral fusion, Vertebral hypoplasia, Esophageal atresia, Supernumera... |
OMIM:206900 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Femoral bowing, Short femur, Metaphyseal widening, Brachydactyly, Narr... |
ORPHA:440354 |
| Aceruloplasminemia |
|
Cirrhosis, Hepatic fibrosis, Hypochromic microcytic anemia, Refractory anemia, Elevated hepatic i... |
ORPHA:48818 |
| Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Hyperlordosis, Kyphosis, Renal hypoplasia/aplasia, Hydroureter, Long tho... |
ORPHA:568 |
| Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Ventral hernia, Anencephaly, Renal agenesis, Congenital diaphragmatic h... |
OMIM:313850 |
| Basal Cell Nevus Syndrome 1 |
|
Bifid ribs, Hamartomatous stomach polyps, Vertebral fusion, Abnormal sternum morphology, Short ri... |
OMIM:109400 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Penile hypospadias, High palate, Death in infancy, Hypospadias, Glandular hypospadias, Neonatal d... |
OMIM:300219 |
| Antley-Bixler Syndrome |
|
Delayed cranial suture closure, Camptodactyly of finger, Long philtrum, Narrow chest, Elbow ankyl... |
ORPHA:83 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
| Kabuki Syndrome 1 |
|
Joint dislocation, Crossed fused renal ectopia, High palate, Malabsorption, Abnormal vertebral mo... |
OMIM:147920 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Anal atresia, Gastroesophageal reflux, Omphalocele, Scoliosis |
ORPHA:3164 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Thin ribs, Platyspondyly |
OMIM:300863 |
| Zaki Syndrome |
|
Sacral dimple, Patent ductus arteriosus, High palate, Renal agenesis, Congenital diaphragmatic he... |
OMIM:619648 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Short metatarsal, Deep philtrum, Short metacarpal, Microdontia, Clinodactyly, Radioul... |
OMIM:605282 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Biconvex vertebral bodies, Vertebral fusion, Biconcave vertebral bodies, Intervertebral space nar... |
ORPHA:93315 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Gastroesophageal reflux, Genu valgum, Pectus carinatum, Narrow palate, Joint contracture of the h... |
OMIM:182212 |
| Renpenning Syndrome 1 |
|
High palate, Joint contracture of the hand, Phimosis, Camptodactyly, Anal atresia, Pectus excavat... |
OMIM:309500 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Patent ductus arteriosus, Vesicoureteral reflux, Gastroesophageal reflux, High palate, Renal dysp... |
OMIM:614080 |
| Trisomy 8Q |
|
Camptodactyly of finger, Non-midline cleft lip, Bifid tongue, High palate, Abnormal oral frenulum... |
ORPHA:1752 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Bifid tongue, Pectus excavatum, Dislocated radial head, Short nec... |
OMIM:268310 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis, Thrombocytopenia, Clinodactyly, Radial deviation of finger |
OMIM:188025 |
| Cantú Syndrome |
|
Patent ductus arteriosus, Cuboid-shaped vertebral bodies, Short neck, Ovoid vertebral bodies, Pla... |
ORPHA:1517 |
| Peutz-Jeghers Syndrome |
|
Intussusception, Gastrointestinal carcinoma, Multiple gastric polyps, Abnormality of the ureter, ... |
OMIM:175200 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Polydactyly, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
| Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lumbar vertebrae, Enlarged thorax, Inguinal hernia, Short neck, Mucopolysacch... |
ORPHA:584 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Death in infancy, Platyspondyly |
ORPHA:163966 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Vesicoureteral reflux, Ectopic anus, Renal hypoplasia/aplasia, Distal urethral duplication, Cleft... |
ORPHA:2549 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, R... |
ORPHA:2237 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Patent ductus arteriosus, Encephalocele, High palate, Penoscrotal transposition, Anencephaly, Cam... |
OMIM:619148 |
| Elsahy-Waters Syndrome |
|
High palate, Abnormality of the anus, Bifid uvula, Pectus excavatum, Anteriorly placed anus, Hypo... |
OMIM:211380 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Esophageal varix, Hematemesis, Hepatomeg... |
OMIM:263200 |
| Mohr Syndrome |
|
Bifid tongue, Partial duplication of the phalanges of the hallux, Median cleft lip, Pectus excava... |
OMIM:252100 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Enuresis, Urethral valve, Urethral obstruction, ... |
OMIM:236730 |
| 22Q11.2 Deletion Syndrome |
|
Meningocele, Patellar dislocation, Abnormal thorax morphology, Short neck, Cleft palate, Abnormal... |
ORPHA:567 |
| Jacobsen Syndrome |
|
Pyloric stenosis, Missing ribs, Clinodactyly of the 5th finger, Pectus excavatum, Brachydactyly, ... |
OMIM:147791 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Sagittal craniosynostosis, Elevated ci... |
OMIM:610199 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia, Cryptorchidism |
ORPHA:2617 |
| Aspergillosis |
|
Abnormal rib morphology, Abnormality of the vertebral column, Abnormal esophagus morphology, Abno... |
ORPHA:1163 |
| Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Omphalocele, Anal stenosis |
OMIM:248450 |
| Mucopolysaccharidosis, Type Iiid |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Elbow flexion contracture, Achilles tendon contrac... |
OMIM:252940 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Cleft palate, Thin ribs, Craniosynostosis, Arthrogryposis multiplex congen... |
OMIM:618265 |
| Dysosteosclerosis |
|
Short sternum, Delayed closure of the anterior fontanelle, Irregular vertebral endplates, Increas... |
OMIM:224300 |
| Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Short ribs, Hypoplastic vertebral bodies, Short neck, Platyspondyly, Narrow... |
ORPHA:2347 |
| Phocomelia, Schinzel Type |
|
Meningocele, Humeroradial synostosis, Hypoplasia of penis, Anal atresia, Tracheoesophageal fistul... |
ORPHA:2879 |
| Fanconi Anemia, Complementation Group R |
|
Anal atresia |
OMIM:617244 |
| Fanconi Anemia, Complementation Group D2 |
|
Aplasia of the 1st metacarpal, Anemia, Absent thumb, Preaxial hand polydactyly, Complete duplicat... |
OMIM:227646 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Sacral dimple, Abnormality of the anus, Epispadias, Abnormal penis morphology, Hypospadias, Conge... |
ORPHA:2556 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Osteogenesis Imperfecta, Type Vii |
|
Delayed cranial suture closure, Protrusio acetabuli, Death in infancy, Multiple rib fractures, Pe... |
OMIM:610682 |
| Pallister-Killian Syndrome |
|
Delayed cranial suture closure, Flexion contracture, Renal dysplasia, Bifid uvula, Hip dislocatio... |
OMIM:601803 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Genu valgum, Metaphyseal irregularity, Genu varum, Short foot, Coxa vara, ... |
OMIM:250420 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology, Hypoplasia of penis |
ORPHA:2772 |
| Opitz Gbbb Syndrome |
|
Vesicoureteral reflux, Gastroesophageal reflux, High palate, Congenital posterior urethral valve,... |
OMIM:300000 |
| Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Non-midline cleft lip, Lip pit, Cleft palate |
ORPHA:1072 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Bilateral cleft lip and palate, Hyperlordosis, Abnormality of the ureter, Abnormal dental enamel ... |
ORPHA:3253 |
| Solitary Rectal Ulcer Syndrome |
|
Stercoral ulcer, Rectal prolapse, Hematochezia, Anal fissure |
ORPHA:209964 |
| Gastrointestinal Stromal Tumor |
|
Neoplasm of the stomach, Anemia, Abnormality of the liver, Neoplasm of the gastrointestinal tract... |
ORPHA:44890 |
| Renal Coloboma Syndrome |
|
Optic nerve dysplasia, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia, Ren... |
ORPHA:1475 |
| Baller-Gerold Syndrome |
|
Bifid uvula, Spina bifida occulta, Cleft palate, Lambdoidal craniosynostosis, Abnormal vertebral ... |
OMIM:218600 |
| Imagawa-Matsumoto Syndrome |
|
Anteriorly placed anus, Camptodactyly, Umbilical hernia |
OMIM:618786 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Thoracic hypoplasia, Anisospondyly, Pterygium, Occipital encephalocele, Neonatal death |
OMIM:224410 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Patellar dislocation, Hip dislocation, Syringomyelia, Cervical ribs, Lateral clavicle hook, Cleft... |
OMIM:274000 |
| Osteogenesis Imperfecta |
|
Flexion contracture, Thoracic hypoplasia, Syringomyelia, Pectus excavatum, Dislocated radial head... |
ORPHA:666 |
| Kinsship Syndrome |
|
Sacral dimple, Gastroesophageal reflux, Death in infancy, Ankyloglossia, Supernumerary ribs, Hip ... |
OMIM:619297 |
| Limb Body Wall Complex |
|
Abdominal wall defect, Ventral hernia, Diastasis recti, Thoracic hypoplasia, Encephalocele, Myelo... |
ORPHA:2369 |
| Duplication Of Urethra |
|
Urethral stricture, Hypertrophy of the urinary bladder, Vesicoureteral reflux, Penile hypospadias... |
ORPHA:237 |
| Kyphomelic Dysplasia |
|
Cleft upper lip, Thoracic hypoplasia, Anterior rib cupping, Short metacarpal, Radial bowing, Flat... |
OMIM:211350 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Diastasis recti, Congenital megaureter, Large intestinal p... |
ORPHA:116 |
| Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis |
OMIM:158330 |
| Noonan Syndrome 4 |
|
Abnormal sternum morphology, Pectus excavatum of inferior sternum, Pectus excavatum, Short neck, ... |
OMIM:610733 |
| Van Den Ende-Gupta Syndrome |
|
Tapered finger, Hallux valgus, Elbow flexion contracture, Slender metacarpals, Pectus excavatum, ... |
OMIM:600920 |
| Griscelli Syndrome |
|
Leukopenia, Hepatitis, Jaundice, Pyloric stenosis, Abnormality of neutrophils, Lymphadenopathy, B... |
ORPHA:381 |
| Johanson-Blizzard Syndrome |
|
Death in infancy, Malabsorption, Hypoplasia of penis, Anal atresia, Anteriorly placed anus, Hypos... |
ORPHA:2315 |
| Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Bifid uvula, Spina... |
ORPHA:1826 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Esophagitis, Protein-losing entero... |
OMIM:619079 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
High palate, Vertebral arch anomaly, Broad ribs, Wormian bones |
ORPHA:85184 |
| Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:614377 |
| Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Biconcave vertebral bodies, Genu valgum, High palate, Intestinal malrot... |
OMIM:102500 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro... |
OMIM:614723 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Kyphosis, Pectus excavatum, Inguinal hernia, Scoliosis, Abnormal rib mor... |
ORPHA:2215 |
| Restrictive Dermopathy 2 |
|
Short clavicles, Gastroesophageal reflux, Rectal prolapse |
OMIM:619793 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Anal atresia, Scoliosis |
ORPHA:480898 |
| Cornelia De Lange Syndrome 1 |
|
Elbow flexion contracture, Dislocated radial head, Reduced renal corticomedullary differentiation... |
OMIM:122470 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Gastroesophageal reflux, Abnormality of the kidney, Anal atresia, Inguinal... |
ORPHA:261652 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Penile hypospadias, Penoscrotal hypospadias, Glandular hypospadias, Micropenis, Thin ribs |
ORPHA:456328 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Neonatal death, Short neck, Arthrogryposis multiplex congenita, Death in infancy |
OMIM:616342 |
| Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, High palate, Coxa valga, Natal tooth, Microdontia, Flared metaphysis, Cu... |
OMIM:269300 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Death in adolescence |
OMIM:122860 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Arthritis, Jaun... |
ORPHA:93111 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hypoplastic sacrum, Vesicoureteral reflux, Renal dysplasia, Hydroureter, Absence of Stensen duct,... |
OMIM:604292 |
| Osteogenesis Imperfecta, Type Xvi |
|
Multiple rib fractures, Platyspondyly, Narrow chest, Vertebral compression fracture, Wormian bone... |
OMIM:616229 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Cleft palate, Ectopic anus |
ORPHA:94066 |
| 46,Xy Sex Reversal 4 |
|
Distal symphalangism, High palate, Renal dysplasia, Anal atresia, Ureteropelvic junction obstruct... |
OMIM:154230 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid tongue, Hip dislocation, Short neck, Abnormal rib morphology, Cleft palate, Abnormal form o... |
ORPHA:818 |
| Campomelic Dysplasia |
|
Spinal dysraphism, Thoracic hypoplasia, Hip dislocation, Dislocated radial head, Absent sternal o... |
OMIM:114290 |
| Cat-Eye Syndrome (Type I) |
|
Anal atresia |
DECIPHER:42 |
| Epidermal Nevus Syndrome |
|
Thoracolumbar scoliosis, Polycystic kidney dysplasia, Spinal cord tumor, Spinal canal stenosis, S... |
ORPHA:35125 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Anal atresia |
OMIM:227260 |
| Aicardi Syndrome |
|
Bifid ribs, Multiple lipomas, Gastroesophageal reflux, Block vertebrae, Malabsorption, Supernumer... |
ORPHA:50 |
| Gracile Bone Dysplasia |
|
Asplenia, Ankyloglossia, Slender long bone, Flared metaphysis, Brachydactyly, Hypoplastic spleen,... |
OMIM:602361 |
| 3Q29 Microduplication Syndrome |
|
High palate, Ectopic anus, Camptodactyly of toe, Short neck, Cleft palate, Craniosynostosis |
ORPHA:251038 |
| Greenberg Dysplasia |
|
Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Hypoplastic vertebral bodies,... |
OMIM:215140 |
| Gm1 Gangliosidosis Type 1 |
|
Abnormal odontoid tissue morphology, Beaking of vertebral bodies T12-L3, Acetabular dysplasia, Ma... |
ORPHA:79255 |
| Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
| Periventricular Nodular Heterotopia |
|
Gastroesophageal reflux, Pyloric stenosis, Shoulder dislocation, Patellar dislocation |
ORPHA:98892 |
| Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, Patent ductus arteriosus, Multicystic kidney dysplasia, High palate, Ec... |
ORPHA:2473 |
| Chronic Granulomatous Disease |
|
Liver abscess, Malabsorption, Pyloric stenosis, Abnormality of neutrophils, Tracheoesophageal fis... |
ORPHA:379 |
| Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Flexion contracture, Esophageal stricture, Abnormality of the anus, Phim... |
ORPHA:2908 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Organic aciduria, Neonatal death, Death in infancy |
OMIM:617184 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Horizontal ribs, Bell-shaped thorax, Patent ductus arteriosus, Gastroesophageal reflux, Inguinal ... |
OMIM:614857 |
| Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Functional abnormality of the bladder |
OMIM:300076 |
| Monosomy 9P |
|
Hernia, High palate, Congenital diaphragmatic hernia, Hypospadias, Short neck, Ureteropelvic junc... |
ORPHA:261112 |
| External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Congenital hip dislocation, Pyloric stenosis, Short 5th finger, Rocker bottom foot |
OMIM:133705 |
| Colonic Atresia |
|
Peptic ulcer, Gastroschisis, Duodenal stenosis, Colonic atresia, Omphalocele |
ORPHA:1198 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Aminoaciduria, Patellar dislocation, Hip dislocation, Abnormal rib morphology, Ne... |
ORPHA:534 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Hernia, Kyphosis, Abnormality of the kidney, Abnormal thorax morphology, Abnormal ... |
ORPHA:280 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Short ribs, Supernumerary nipple, Postaxial hand polydactyly, Crypto... |
ORPHA:2519 |
| Opsismodysplasia |
|
Renal phosphate wasting, Bell-shaped thorax, Anterior rib cupping, Severe platyspondyly, Hypoplas... |
OMIM:258480 |
| Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Biliary cirrhosis, Hepatosplenomegaly, Postaxial foot polydactyly, Bile duct pr... |
OMIM:267010 |
| Foix-Alajouanine Syndrome |
|
Urinary incontinence, Back pain, Myelitis, Urinary retention, Neurogenic bladder, Low back pain, ... |
ORPHA:79093 |
| Juvenile Polyposis Of Infancy |
|
Patent ductus arteriosus, High, narrow palate, Intussusception, Hematochezia, Melena, Intestinal ... |
ORPHA:79076 |
| Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Aplasia/Hypoplasia of the tongue, Preaxial hand polydactyly, Postaxia... |
ORPHA:564 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Gastroesophageal reflux, Kyphosis, Renal agenesis, Macroglossia, Kyphoscoliosis, Hypospadias, Pro... |
OMIM:301040 |
| X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Genu varum, Genu valgum, Enlargement of the costochondral junction, Vert... |
ORPHA:89936 |
| Oculocerebrocutaneous Syndrome |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Finger syndactyly, Wide mouth, Missing ri... |
ORPHA:1647 |
| Split Cord Malformation |
|
Meningocele, Hydromyelia, Low back pain, Butterfly vertebrae, Syringomyelia, Tethered cord, Cervi... |
ORPHA:573278 |
| Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Scoliosis, Dysphagia, Hemivertebrae |
OMIM:614688 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Protrusio acetabuli, Joint dislocation, Progressive congenital scoliosis, Bladder diverticulum, I... |
OMIM:225400 |
| Silver-Russell Syndrome 1 |
|
Nephroblastoma, Delayed cranial suture closure, Congenital posterior urethral valve, Abnormality ... |
OMIM:180860 |
| Osteogenesis Imperfecta, Type Viii |
|
Dentinogenesis imperfecta, Kyphosis, Tibial bowing, Femoral bowing, Barrel-shaped chest, Inguinal... |
OMIM:610915 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Diastasis recti, Renal cortical cysts, Enlarged kidney, Ma... |
OMIM:130650 |
| Penile Agenesis |
|
Cloacal abnormality, Anorectal anomaly, Absent penis, Bilateral renal agenesis, Urethral fistula,... |
ORPHA:49 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Left unicoronal synostosis, Vesicoureteral reflux, Aganglionic megacolon, Anal atresia, Cleft pal... |
OMIM:614749 |
| Alagille Syndrome 1 |
|
Vesicoureteral reflux, Multiple small medullary renal cysts, Renal tubular acidosis, Renal dyspla... |
OMIM:118450 |
| Lumbar Syndrome |
|
Vesicoureteral reflux, Renal duplication, Myelomeningocele, Ectopic anus, Spina bifida, Renal age... |
ORPHA:83628 |
| Scalp-Ear-Nipple Syndrome |
|
Multiple lipomas, Bifid uvula, Pyelonephritis, Unilateral renal agenesis, Renal hypoplasia, Renal... |
OMIM:181270 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Bifid ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle... |
OMIM:607872 |
| Occipital Horn Syndrome |
|
Delayed cranial suture closure, Scarring, Hip dislocation, Abnormality of the wrist, Pectus excav... |
ORPHA:198 |
| Scleroderma |
|
Hypereosinophilia, Gastroesophageal reflux, Gastrointestinal telangiectasia, Osteolytic defects o... |
ORPHA:801 |
| Trisomy 8P |
|
Clinodactyly of the 2nd finger, Metopic suture patent to nasal root, Clinodactyly of the 4th toe,... |
ORPHA:264450 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Patent ductus arteriosus, Death in infancy, Camptodactyly, Short neck, Protein-losing enteropathy... |
OMIM:608104 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Pyloric stenosis, Camptodactyly, Avascular necrosis of the capital femoral epiph... |
OMIM:614262 |
| Aicardi Syndrome |
|
Bifid ribs, Block vertebrae, Spina bifida, Supernumerary ribs, Missing ribs, Butterfly vertebrae,... |
OMIM:304050 |
| Mucopolysaccharidosis Type 3 |
|
Umbilical hernia, Genu valgum, Flexion contracture, Malabsorption, Macroglossia, Inguinal hernia,... |
ORPHA:581 |
| Raine Syndrome |
|
Enamel hypoplasia, Thoracic hypoplasia, High palate, Death in infancy, Hydroureter, Pectus excava... |
OMIM:259775 |
| Autosomal Dominant Centronuclear Myopathy |
|
Pyloric stenosis, Thin ribs, Cryptorchidism |
ORPHA:169189 |
| Xk Aprosencephaly Syndrome |
|
Anal atresia |
ORPHA:3469 |
| Feingold Syndrome Type 1 |
|
Patent ductus arteriosus, Vesicoureteral reflux, Jejunal atresia, Gastrointestinal atresia, Renal... |
ORPHA:391641 |
| Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Short neck, Cubitus valgus, Cleft palate, Shield chest |
ORPHA:247768 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Cleft palate, Abnormality of the ureter, Umbilical hernia |
ORPHA:1770 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Small hand, Pyloric stenosis, Bifid uvula, Clinodactyly, Cryptorchidism, Cleft palat... |
ORPHA:96184 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Anal atresia, Dysphagia |
OMIM:617695 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Narrow palate, Abnormality of the wrist, Anal atresia, Inguinal hernia, ... |
ORPHA:2063 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Inguinal hernia, Hypospadias, Umbilical hernia |
OMIM:601499 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Cleft soft palate, Camptodactyly, Absent uvula, Omphalocele |
OMIM:618529 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
11 pairs of ribs, Hip subluxation, Genu valgum, Irregular vertebral endplates, Flexion contractur... |
OMIM:271640 |
| Muir-Torre Syndrome |
|
Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the liver, Colon cancer, Salivary gland ne... |
ORPHA:587 |
| Primary Hyperoxaluria Type 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... |
ORPHA:93599 |
| Metachromatic Leukodystrophy |
|
Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology, Neoplasm of the gallb... |
ORPHA:512 |
| Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Vesicoureteral reflux, Delayed closure of the anterior fontanelle, Patent ductus a... |
OMIM:618460 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Genu valgum, Enamel hypomineralization, Osteoarthritis, Spinal canal ste... |
OMIM:307800 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Thoracolumbar scoliosis, Hyperlordosis, Horizontal ribs, Knee flexion contracture, Genu valgum, J... |
OMIM:618019 |
| Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, High palate, Anal atresia, Intestinal malrotation, Horseshoe kidney, Cleft... |
ORPHA:93260 |
| Monosomy 9Q22.3 |
|
Nephroblastoma, Kyphosis, Pectus excavatum, Short neck, Abnormal rib morphology, Abnormality of t... |
ORPHA:77301 |
| Alveolar Echinococcosis |
|
Pancreatic cysts, Biliary cirrhosis, Anemia, Abnormal sternum morphology, Liver abscess, Abnormal... |
ORPHA:284 |
| Genitopatellar Syndrome |
|
Knee flexion contracture, Multicystic kidney dysplasia, Hip contracture, Patellar dislocation, Pa... |
OMIM:606170 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Abnormal spinal cord morphology, Camptodactyly, Flexion contracture of finger, Gastroin... |
ORPHA:88628 |
| 46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An... |
ORPHA:2973 |
| Bnar Syndrome |
|
Anteriorly placed anus, Renal agenesis, Anal stenosis |
ORPHA:217266 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hip subluxation, Thoracic hypoplasia, Progressive calcification of costochondral cartilage, Elbow... |
OMIM:271665 |
| Kbg Syndrome |
|
Vertebral arch anomaly, Vertebral fusion, Thoracic kyphosis, Epispadias, Cervical ribs, Short nec... |
OMIM:148050 |
| Ulbright-Hodes Syndrome |
|
Ovoid thoracolumbar vertebrae, Short sternum, High palate, Humeroradial synostosis, Short ribs, P... |
ORPHA:3404 |
| Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
| Cleidocranial Dysplasia 1 |
|
Short middle phalanx of the 2nd finger, Hip dislocation, Cervical ribs, Cleft palate, Hypoplastic... |
OMIM:119600 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Anal atresia |
ORPHA:93950 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Kyphosis, Missing ribs, Elbow dislocation, Scoliosis, Abnormal rib morphology,... |
ORPHA:2769 |
| Distal Monosomy 12Q |
|
2-3 toe syndactyly, Biliary atresia, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, ... |
ORPHA:96149 |
| Acromesomelic Dysplasia 4 |
|
Genu varum, Genu valgum, Enlargement of the costochondral junction, Thoracic scoliosis, Prominent... |
OMIM:619636 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ectopic kidney, Neonatal death, Cystic renal dysplasia, Death in infancy |
OMIM:613730 |
| Systemic Sclerosis |
|
Osteolytic defects of the phalanges of the hand, Gastroesophageal reflux, Gastrointestinal telang... |
ORPHA:90291 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Anuria, Acute kidney injury, Hemoglobinuria, Intussusception, Rectal prol... |
ORPHA:90038 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Anal atresia, Rectovaginal fistula, Ureteral duplication |
OMIM:270420 |
| Mucolipidosis Iii Alpha/Beta |
|
Short ribs, Craniosynostosis, Irregular carpal bones, Carpal bone hypoplasia, Scoliosis, Shallow ... |
OMIM:252600 |
| Robinow Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Radioulnar dislocation, Bifid tongue, Webbed penis,... |
ORPHA:97360 |
| Severe Congenital Nemaline Myopathy |
|
Flexion contracture, Abnormal thorax morphology, Increased connective tissue, Arthrogryposis mult... |
ORPHA:171430 |
| Microcephaly-Micromelia Syndrome |
|
Short tibia, Humeroradial synostosis, Missing ribs, Short neck, Narrow chest, Cleft palate, Neona... |
OMIM:251230 |
| Trisomy 18P |
|
Pyloric stenosis, Bilateral cryptorchidism, High, narrow palate, Abnormal finger morphology |
ORPHA:1715 |
| Radiation Proctitis |
|
Abnormal gastrointestinal vascular morphology, Abnormality of connective tissue, Abnormal rectum ... |
ORPHA:70475 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Patellar aplasia, Short femur, Femoral bowing, Popliteal pterygium, Omphalocele, Fibular hypoplasia |
ORPHA:3329 |
| Rothmund-Thomson Syndrome, Type 2 |
|
High palate, Short foot, Small hand, Anteriorly placed anus, Congenital hip dislocation, Cryptorc... |
OMIM:268400 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Renal cyst... |
ORPHA:480536 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Ulnar deviation of the wrist, Fixed elbow flexion, Prominent metopic ridge, Pe... |
ORPHA:97297 |
| Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Hypoplastic ilia, Abnormal metaphysis morphology, Short ribs, Diaphyse... |
ORPHA:3144 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hip dysplasia, Pyloric stenosis, Tapered finger, Clinodactyly of the 5th finger |
OMIM:617219 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Increased mean platelet volume, Intestina... |
OMIM:300048 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coronal craniosynostosis, Fused cervical vertebrae, Pyloric stenosis, Inguinal hernia, Contractur... |
ORPHA:83617 |
| Larsen Syndrome |
|
Vertebral fusion, Spondylolysis, Accessory carpal bones, Cervical kyphosis, Hip dislocation, Elbo... |
OMIM:150250 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
High palate, Pectus excavatum, Lumbar hemivertebrae, Loss of truncal subcutaneous adipose tissue,... |
ORPHA:2463 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Cervical hemivertebrae, Thoracic hemivertebrae, Fused cervical vertebrae, Thoracic kyphosis, Rena... |
ORPHA:508498 |
| Dihydropyrimidinase Deficiency |
|
Anal atresia, Uraciluria |
OMIM:222748 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
| Renal Agenesis, Bilateral |
|
Renal agenesis, Abnormal sacrum morphology, Tracheoesophageal fistula, Abnormal intestine morphol... |
ORPHA:1848 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Short sternum, Hydronephrosis, Metopic suture patent to nasal root, Hydroureter, Tibial bowing, M... |
OMIM:269150 |
| Peters Plus Syndrome |
|
Sacral dimple, Patent ductus arteriosus, Renal duplication, Multicystic kidney dysplasia, Intesti... |
ORPHA:709 |
| Orofaciodigital Syndrome Xiv |
|
Patent ductus arteriosus, Lobulated tongue, Bifid tongue, Short ribs, Aplasia of the epiglottis, ... |
OMIM:615948 |
| 15q26 overgrowth syndrome |
|
Camptodactyly of finger, Vesicoureteral reflux, High palate, Abnormality of the kidney, Polycysti... |
DECIPHER:81 |
| Culler-Jones Syndrome |
|
Cleft upper lip, Anterior pituitary hypoplasia, Hypopituitarism, Ectopic posterior pituitary, Cry... |
OMIM:615849 |
| Stuve-Wiedemann Syndrome 1 |
|
Knee flexion contracture, Short tibia, Talipes valgus, Death in infancy, Elbow flexion contractur... |
OMIM:601559 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Joint dislocation, Death in infancy, Hypoplasia of penis, Anal atresia, ... |
ORPHA:2008 |
| Pearson Syndrome |
|
Anemia, Abnormality of the liver, Decreased response to growth hormone stimulation test, Dysphagi... |
ORPHA:699 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Omphalocele |
OMIM:601927 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Specc1L-Related Hypertelorism Syndrome |
|
Patent ductus arteriosus, Pectus excavatum, Ectopic kidney, Omphalocele, Umbilical hernia |
ORPHA:1519 |
| Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Renal duplication, Morgagni diaphragmatic hernia, Supernumerary ribs, E... |
OMIM:613309 |
| Microform Holoprosencephaly |
|
Renal agenesis, Hypoplasia of penis, Scoliosis, Cleft palate, Duodenal atresia |
ORPHA:280200 |
| Mixed Connective Tissue Disease |
|
Leukopenia, Gastroesophageal reflux, Hemolytic anemia, Arthritis, Lymphadenopathy, Gastritis, Xer... |
ORPHA:809 |
| 8P11.2 Deletion Syndrome |
|
Sacral dimple, Patent ductus arteriosus, High palate, Supernumerary ribs, Hypoplasia of penis |
ORPHA:251066 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Gastric hypertrophy, Metaca... |
OMIM:161700 |
| Alpha-Mannosidosis, Infantile Form |
|
Thickened ribs, Genu valgum, Talipes valgus, Recurrent urinary tract infections, Macroglossia, Re... |
ORPHA:309282 |
| Radial Aplasia, X-Linked |
|
Penile hypospadias, Anal atresia |
OMIM:312190 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Anemia, Pancreatic aplasia, Overlapping fingers, Pectus carinatum |
OMIM:609069 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal cortic... |
OMIM:174000 |
| Pancreatoblastoma |
|
Abnormal lymph node morphology, Jaundice, Pancreatic calcification |
ORPHA:677 |
| Nijmegen Breakage Syndrome |
|
Anorectal anomaly, Pollakisuria, Anal atresia, Short neck, Cleft palate, Anal stenosis |
ORPHA:647 |
| Myopathy, Centronuclear, X-Linked |
|
High palate, Pyloric stenosis, Slender toe, Cryptorchidism, Arachnodactyly |
OMIM:310400 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared iliac wing, Hip ... |
OMIM:609945 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Sweeney-Cox Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, High palate, Narrow chest, Velopharyngeal insu... |
OMIM:617746 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Spina bifida occulta, Micropenis, Short neck, Abnormal rib morphology |
ORPHA:488434 |
| Teebi Hypertelorism Syndrome 1 |
|
Coronal craniosynostosis, Sagittal craniosynostosis, Omphalocele |
OMIM:145420 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Fused cervical vertebrae, Flaring of rib cage, Broad ribs, Joint swelling |
OMIM:612852 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Pyloric stenosis |
OMIM:226700 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
| Fontaine Progeroid Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, Death in infancy, Coronal craniosynostosis, Re... |
OMIM:612289 |
| Steinfeld Syndrome |
|
Unilateral renal dysplasia, Bifid uvula, Missing ribs, Abnormal vertebral morphology, Median clef... |
OMIM:184705 |
| Proboscis Lateralis |
|
Ureteral agenesis, Patent ductus arteriosus, High palate, Unilateral renal agenesis, Duplication ... |
ORPHA:141099 |
| Aymé-Gripp Syndrome |
|
Delayed cranial suture closure, Patent ductus arteriosus, Abnormal thorax morphology, Supernumera... |
ORPHA:1272 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ectopic kidney, Renal agenesis, Horseshoe kidney, Ureteral duplication |
OMIM:602200 |
| Hardikar Syndrome |
|
Cleft soft palate, Portal inflammation, Hepatosplenomegaly, Celiac disease, Hepatomegaly, Hematem... |
OMIM:301068 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Death in infancy, Scoliosis, Death in adolescence, Neonatal death, Death in childhood |
OMIM:619055 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow chest, Long fibula, Platyspondyly, Abnormal rib morphology, Abnormal scapula morphology |
ORPHA:93317 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Short phalanx of finger, Thoracic hypoplasia, Bifid uvula, Hepatosplenomegaly, Hepatomegaly, Post... |
OMIM:266920 |
| Ring Chromosome 13 Syndrome |
|
Urogenital sinus anomaly, High palate, Anencephaly, Abnormal renal physiology, Anal atresia, Hypo... |
ORPHA:96176 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Anal atresia, Bilateral cleft lip and palate |
ORPHA:1997 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Anal atresia, Syringomyelia, Ectopic kidney, Horseshoe kid... |
ORPHA:140952 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Elbow flexion contracture, Hip dislocation, Short neck, Aplasia/Hypoplas... |
OMIM:276820 |
| Pai Syndrome |
|
Encephalocele, Nasal polyposis, Midline defect of the nose, Depressed nasal bridge, Iris coloboma |
ORPHA:1993 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Thickened ribs, Flexion contracture, Arthritis, Dermatan sulfate excreti... |
ORPHA:217085 |
| Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Neoplasm of the pancreas, Polycythemia, Pheochromocytoma, Hepatic hemangioma |
OMIM:193300 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Inflam... |
OMIM:618108 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Thickened ribs, Flexion contracture, Arthritis, Dermatan sulfate excreti... |
ORPHA:217093 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Tetrasomy 9P |
|
Renal dysplasia, Bifid uvula, Short neck, Cleft palate, Amelogenesis imperfecta, Abnormal dental ... |
ORPHA:3310 |
| Multiple Osteochondromas |
|
Abnormality of the knee, Genu valgum, Talipes valgus, Abnormal carpal morphology, Urinary retenti... |
ORPHA:321 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Pancreatic aplasia, High pa... |
ORPHA:556955 |
| Blepharocheilodontic Syndrome 1 |
|
Anal atresia, Neural tube defect |
OMIM:119580 |
| Ulnar-Mammary Syndrome |
|
Short 5th finger, Elbow flexion contracture, Postaxial hand polydactyly, Short 4th toe, Axillary ... |
OMIM:181450 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Sacral dimple, Thoracolumbar scoliosis, Patent ductus arteriosus, High palate, Patellar subluxati... |
ORPHA:480880 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Perianal abscess, Nephrotic syndrome, Ulcerative colitis, Anal fissure |
OMIM:618935 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Inguinal hernia, Anal atresia |
OMIM:619243 |
| Hydrolethalus Syndrome 1 |
|
Arrhinencephaly, Anencephaly, Hypospadias, Stillbirth, Proximal tibial hypoplasia, Cleft palate, ... |
OMIM:236680 |
| Mesomelia-Synostoses Syndrome |
|
Tarsometatarsal synostosis, Carpometacarpal synostosis, Tibial bowing, Short umbilical cord, Abno... |
OMIM:600383 |
| Restrictive Dermopathy 1 |
|
Patent ductus arteriosus, Flexion contracture, Thin clavicles, Short umbilical cord, Hydropic pla... |
OMIM:275210 |
| Aspartylglucosaminuria |
|
Anterior beaking of lumbar vertebrae, Aspartylglucosaminuria, Malabsorption, Arthritis, Abnormal ... |
ORPHA:93 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Patellar aplasia, Craniosynostosis, Slender long bone... |
ORPHA:2554 |
| Ellis Van Creveld Syndrome |
|
Genu valgum, Short thorax, Capitate-hamate fusion, Renal hypoplasia/aplasia, Abnormality of the k... |
ORPHA:289 |
| Lowry-Maclean Syndrome |
|
Midgut malrotation, Abnormality of the abdominal organs, Craniosynostosis, Bilateral cryptorchidi... |
ORPHA:2409 |
| Peters-Plus Syndrome |
|
Patent ductus arteriosus, Diastasis recti, Limited elbow movement, Pectus excavatum, Anteriorly p... |
OMIM:261540 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Jaun... |
ORPHA:731 |
| Familial Visceral Myopathy |
|
Camptodactyly of finger, Vesicoureteral reflux, Aplasia/Hypoplasia of the abdominal wall musculat... |
ORPHA:2604 |
| Sclerosteosis 1 |
|
Sclerotic vertebral endplates, Broad clavicles, Broad ribs, Sclerotic scapulae |
OMIM:269500 |
| Weill-Marchesani Syndrome 1 |
|
Patent ductus arteriosus, Narrow palate, Spinal canal stenosis, Scoliosis, Broad ribs, Lumbar hyp... |
OMIM:277600 |
| Leprechaunism |
|
Enlarged kidney, Reduced subcutaneous adipose tissue, Long penis, Megarectum, Nephrocalcinosis, R... |
ORPHA:508 |
| Restrictive Dermopathy |
|
Camptodactyly of finger, Patent ductus arteriosus, Thin clavicles, Multiple joint contractures, S... |
ORPHA:1662 |
| Craniofacial Dyssynostosis With Short Stature |
|
Pyloric stenosis, Cryptorchidism |
OMIM:218350 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Gastroesophageal reflux, High palate, Hip dysplasia, Clinodactyly of the 5th finger, Syndactyly, ... |
OMIM:616975 |
| Hallermann-Streiff Syndrome |
|
Hyperlordosis, Narrow palate, High palate, Spina bifida, Pectus excavatum, Abnormal rib cage morp... |
OMIM:234100 |
| Congenital Tufting Enteropathy |
|
Elevated fecal osmolality, Villous atrophy, Abnormal large intestinal mucosa morphology, Malabsor... |
ORPHA:92050 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Vesicoureteral reflux, Renal dysplasia, Hydroureter, Absence of Stensen duct, Renal agenesis, Bla... |
OMIM:129900 |
| Adrenomyeloneuropathy |
|
Urinary incontinence, Back pain, Urinary bladder sphincter dysfunction, Urinary retention, Urinar... |
ORPHA:139399 |
| Charge Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Gastroesophageal reflux, Abnormal soft palate mo... |
ORPHA:138 |
| Axenfeld-Rieger Syndrome |
|
Hypospadias, Anal stenosis |
ORPHA:782 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Horizontal ribs, Cone-shaped epiphysis, Short ribs, Narrow chest, Hypodontia, Short long bone, Su... |
OMIM:617088 |
| Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Narrow greater sciatic notch,... |
OMIM:250220 |
| Trichothiodystrophy 3, Photosensitive |
|
Pyloric stenosis, Bilateral cryptorchidism, Lymphopenia, Meckel diverticulum, Neutropenia |
OMIM:616395 |
| Cardiospondylocarpofacial Syndrome |
|
Vesicoureteral reflux, Fusion of middle ear ossicles, Gastroesophageal reflux, Fused cervical ver... |
OMIM:157800 |
| Fraser Syndrome 2 |
|
Aplasia of the bladder, Short thorax, Renal agenesis, Renal hypoplasia |
OMIM:617666 |
| Multiple Myeloma |
|
Nephrotic syndrome, Acute kidney injury, Functional abnormality of the gastrointestinal tract, Ab... |
ORPHA:29073 |
| Rhombencephalosynapsis |
|
Esophageal atresia, Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Abnormal rena... |
ORPHA:59315 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft palate, Bifid uvula, Cleft soft palate, Unilateral cleft lip |
ORPHA:2736 |
| Cog1-Cdg |
|
High palate, Vertebral segmentation defect, Flat acetabular roof, Butterfly vertebrae, Kyphoscoli... |
ORPHA:263508 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed cranial suture closure, Keloids, Tibial bowing, Cervical ribs, Flexion contracture of fin... |
OMIM:601812 |
| Weill-Marchesani Syndrome 2 |
|
Patent ductus arteriosus, Narrow palate, High palate, Elbow flexion contracture, Spinal canal ste... |
OMIM:608328 |
| Aneurysm-Osteoarthritis Syndrome |
|
Camptodactyly of finger, Osteochondritis dissecans, Bifid uvula, Pectus excavatum, Dural ectasia,... |
ORPHA:284984 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
| Cranioectodermal Dysplasia 2 |
|
Horizontal ribs, Patent ductus arteriosus, High palate, Short ribs, Metopic synostosis, Pectus ex... |
OMIM:613610 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Anterior rib cupping, Carpal bone hypoplasia, Kyphoscoliosis, Platyspondyly, Lumbar ... |
OMIM:184253 |
| Immunodeficiency, Common Variable, 10 |
|
Pyloric stenosis, Decreased response to growth hormone stimulation test, Frequent Giardia lamblia... |
OMIM:615577 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Anemia, Hallux valgus, Pancytopenia, Hepatosplenomegaly, Pectus excavatum, Thro... |
ORPHA:2072 |
| Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Encephalocele, Myelomeningocele, Abnormality of the anus, Re... |
OMIM:219000 |
| Arteriosclerosis, Severe Juvenile |
|
Short phalanx of finger, Hip dysplasia, Anemia, Gastric ulcer |
OMIM:208060 |
| Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
| Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Genu varum, Joint dislocation, Renal hypoplasia/aplasia, Rectovaginal fi... |
ORPHA:2753 |
| Fanconi Anemia, Complementation Group C |
|
Flexion contracture, Renal agenesis, Ectopic kidney, Duplicated collecting system, Horseshoe kidn... |
OMIM:227645 |
| 2Q37 Microdeletion Syndrome |
|
Short foot, Short metacarpal, Finger syndactyly, Toe syndactyly, Small hand, Pyloric stenosis, Cl... |
ORPHA:1001 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Gastrointestinal atresia, Intestinal malrotation, Rectal abscess, Jejunoileal ulceration, Omphalo... |
ORPHA:436252 |
| Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Gastroesophageal reflux, Vertebral fusion, Kyphosis, Malrotation of small bowel, H... |
OMIM:194190 |
| Acrocallosal Syndrome |
|
High palate, Bifid uvula, Anal atresia, Inguinal hernia, Hypospadias, Protruding tongue, Cleft pa... |
OMIM:200990 |
| Townes-Brocks Syndrome 1 |
|
Anal stenosis, Vesicoureteral reflux, Gastroesophageal reflux, Multicystic kidney dysplasia, Uret... |
OMIM:107480 |
| Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Abnormal renal corticomedullary differentiation, Thin ribs |
OMIM:617397 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Narrow palate, Redundant umbilical skin, High palate, Bifid uvula, Anteriorly placed anus, Hyposp... |
OMIM:123790 |
| Fetal Akinesia Deformation Sequence 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Hip contracture, Thoracic hypoplasia, Congeni... |
OMIM:208150 |
| Coffin-Siris Syndrome 1 |
|
Spina bifida occulta, Dislocated radial head, Cleft palate, Aplasia/Hypoplasia of the patella, Ga... |
OMIM:135900 |
| Blue Rubber Bleb Nevus |
|
Intussusception, Rectal prolapse, Intestinal bleeding, Volvulus |
OMIM:112200 |
| Down Syndrome |
|
Patent ductus arteriosus, Aganglionic megacolon, Macroglossia, Duodenal stenosis, Anal atresia, P... |
OMIM:190685 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cupped ribs, Ovoid vertebral bodies, Scoliosis, Platyspondyly |
ORPHA:85167 |
| 17Q12 Microdeletion Syndrome |
|
Pancreatic aplasia, Cryptorchidism |
ORPHA:261265 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Horizontal inferior border of scapula, Anterior rib cupping, Diffuse mesangial sclerosis, Platysp... |
OMIM:102700 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Autoimmune hypoparathyroidism, Thymoma, Biliary cirrhosis, Leukopenia, Non-caseating epithelioid ... |
ORPHA:227982 |
| Wolfram Syndrome |
|
Anemia, Malabsorption, Gastrointestinal hemorrhage, Abnormality of mesentery morphology, Gastric ... |
ORPHA:3463 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Anemia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyp... |
OMIM:174900 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Hypospadias, Neonatal death, Death in childhood, Arthrogryposis multiplex conge... |
OMIM:619334 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Inguinal hernia, Celiac disease, Rib fusion |
ORPHA:544488 |
| Fanconi Anemia, Complementation Group D1 |
|
Anal atresia |
OMIM:605724 |
| Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Omphalocele, Hypoplasia of penis, Umbilical hernia |
ORPHA:920 |
| Congenital Tracheal Stenosis |
|
Patent ductus arteriosus, Morphological abnormality of the gastrointestinal tract, Abnormality of... |
ORPHA:141127 |
| Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Aganglionic megacolon, Anal atre... |
OMIM:236700 |
| Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the gastrointestinal tract... |
ORPHA:2907 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hyperlordosis, Genu valgum, Hip dislocation, Limited elbow extension, Cleft palate, Broad ribs, U... |
OMIM:301066 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Leukopenia, Biliary cirrhosis, Atrophic gastritis, Non-caseating epithelioid cell granul... |
ORPHA:227990 |
| Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Camptodactyly, Anteriorly placed anus, Omphalocele, Micropenis |
OMIM:200110 |
| Hepatocellular Carcinoma |
|
Esophageal varix, Hepatic necrosis, Abnormal rectum morphology |
ORPHA:88673 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Anal atresia, Congenital diaphragmatic hernia, Hypospadias, Anteriorly placed anus, Colonic atres... |
OMIM:309801 |
| Atresia Of Urethra |
|
Vesicoureteral reflux, Renal dysplasia, Bladder fistula, Hydroureter, Recurrent urinary tract inf... |
ORPHA:105 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Congenital pyloric atresia, Axillary pterygium, Esophageal atresia |
OMIM:226730 |
| Pyknoachondrogenesis |
|
Horizontal ribs, Enlarged thorax, Short thorax, Short ribs, Short long bone, Aplastic pubic bones... |
ORPHA:3003 |
| Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Bifid tongue, Taurodontia, Abnormal oral frenulum morphology... |
ORPHA:2751 |
| Keratoderma Hereditarium Mutilans |
|
Cleft palate, Abnormal spinal cord morphology |
ORPHA:494 |
| Cystic Fibrosis |
|
Meconium ileus, Gastroesophageal reflux, Malabsorption, Steatorrhea, Nephrolithiasis, Rectal prol... |
ORPHA:586 |
| Orofaciodigital Syndrome Type 1 |
|
Pancreatic cysts, Lobulated tongue, Short toe, Abnormality of the pancreas, High palate, Preaxial... |
ORPHA:2750 |
| Holoprosencephaly 7 |
|
Median cleft lip and palate, Bilateral cleft palate, Omphalocele, Cleft palate, Occipital meningo... |
OMIM:610828 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Iris coloboma, Nasal polyposis |
OMIM:155145 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Gastroesophageal reflux, Renal cyst, Anteriorly placed anus, Hypospadias, Short neck |
ORPHA:495875 |
| Nestor-Guillermo Progeria Syndrome |
|
Delayed closure of the anterior fontanelle, Flexion contracture, Limited elbow movement, Wide cra... |
OMIM:614008 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Gastritis, Bone marr... |
ORPHA:3261 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Generalized ... |
OMIM:231680 |
| Fibrous Dysplasia Of Bone |
|
Abnormality of the cervical spine, Abnormal lumbar spine morphology, Abnormal clavicle morphology... |
ORPHA:249 |
| Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Anal atresia, Cleft palate, Anal stenosis, Recurrent infectio... |
OMIM:251260 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Vesicovaginal fistula, Joint contracture of the hand, Humeroradial synostosis, Camptodactyly, Car... |
OMIM:201750 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Delayed cranial suture closure, Genu valgum, Flexion contracture, High palate, Supernumerary ribs... |
OMIM:619127 |
| Orofaciodigital Syndrome I |
|
Pancreatic cysts, Lobulated tongue, Hepatic fibrosis, Polydactyly, Bifid tongue, High palate, Ton... |
OMIM:311200 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Biliary atresia, Aplasia/Hypoplasia of the gallbladder, Cervical ribs, Int... |
ORPHA:2255 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Narrow palate, Anteriorly placed anus, Cleft palate, Craniosynostosis, Umbilical hernia |
ORPHA:1555 |
| Floating-Harbor Syndrome |
|
11 pairs of ribs, Gastroesophageal reflux, Congenital posterior urethral valve, Stage 5 chronic k... |
ORPHA:2044 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Gastric ulcer, Duodenal ulcer, Esophageal ulceration |
OMIM:618372 |
| Frontometaphyseal Dysplasia 2 |
|
Gastroesophageal reflux, Short metatarsal, High palate, Hip contracture, Short metacarpal, Fused ... |
OMIM:617137 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Patent ductus arteriosus, High palate, Submucous cleft hard palate, Anteriorly placed anus, High,... |
OMIM:612863 |
| White-Kernohan Syndrome |
|
Gastroesophageal reflux, Hydroureter, Anteriorly placed anus, Horseshoe kidney, Metopic synostosi... |
OMIM:619426 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Hepatic cysts, Polycystic liver disease, Pituitary growth hormone cell adenoma |
ORPHA:730 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Enamel hypoplasia, Foot joint contracture, IgA deposition in the glomerulus, Flexion contracture,... |
ORPHA:79408 |
| Hereditary Orotic Aciduria |
|
Oroticaciduria, Aminoaciduria, Abnormality of the ureter, Orotic acid crystalluria |
ORPHA:30 |
| Lynch Syndrome |
|
Flexion contracture, Death in infancy, Malabsorption, Neoplasm of the rectum, Hepatocellular carc... |
ORPHA:144 |
| Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, High palate, Pancreatic aplasia, Exocrine pancreatic insufficiency, Hitchhike... |
OMIM:618500 |
| Sotos Syndrome |
|
Flexion contracture, Congenital posterior urethral valve, Pectus excavatum, Vesicoureteral reflux... |
ORPHA:821 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Colon perforation, Glycosuria, Microcolon, Cervical ribs, Intestinal ma... |
OMIM:600001 |
| Benign Schwannoma |
|
Facial palsy, Nasal polyposis, Scleral schwannoma, Schwannoma, Abnormality of the twelfth cranial... |
ORPHA:252164 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Renal duplication, Renal dysplasia, Urethral stricture, Hematuria, Pterygium, Urinary bladder inf... |
ORPHA:79403 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Microcolon, Megacystis, Neonatal death, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
| Hennekam Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Malabsorption, Pulmonary lymphangiectasia, Pyloric st... |
ORPHA:2136 |
| Darier Disease |
|
Anal mucosal leukoplakia |
ORPHA:218 |
| Curry-Jones Syndrome |
|
Anal stenosis, Lipomyelomeningocele, Intestinal malrotation, Unicoronal synostosis, Bicoronal syn... |
OMIM:601707 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Gastroesophageal reflux, Flexion contracture, Esophageal stricture, Ankyloglossia, Esophageal ste... |
ORPHA:89842 |
| Craniofacial Microsomia |
|
Patent ductus arteriosus, Vesicoureteral reflux, Genu valgum, Multicystic kidney dysplasia, Verte... |
OMIM:164210 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Abnormality of the liver, Villous atrophy,... |
ORPHA:84064 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Malabsorption, Recurrent gastroe... |
ORPHA:37042 |
| Primary Ciliary Dyskinesia |
|
Rod-cone dystrophy, Hydrocephalus, Nasal polyposis, Chronic rhinitis, Nasal congestion |
ORPHA:244 |
| Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Epispadias, Abnormality of the bladder, Abnormality of the ureter, Hypospa... |
ORPHA:3339 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Jejunal atresia, Death in infancy, Gastroschisis, ... |
ORPHA:989 |
| Familial Colorectal Cancer Type X |
|
Stomach cancer, Flexion contracture, Malabsorption, Neoplasm of the rectum, Hepatocellular carcin... |
ORPHA:440437 |
| Tetraamelia Syndrome 1 |
|
Urethral atresia, Gastroschisis, Renal agenesis, Anal atresia, Congenital diaphragmatic hernia, C... |
OMIM:273395 |
| Cardiac Diverticulum |
|
Patent ductus arteriosus, Abdominal wall defect, Diastasis recti, Aplasia/Hypoplasia of the stern... |
ORPHA:1686 |
| Zygomycosis |
|
Enterocolitis, Colon perforation, Hepatitis, Ileitis, Melena, Gastritis, Mediastinal lymphadenopa... |
ORPHA:73263 |
| Cystic Fibrosis |
|
Meconium ileus, Steatorrhea, Rectal prolapse, Hypercalciuria, Ileus |
OMIM:219700 |
| Ciliary Dyskinesia, Primary, 42 |
|
Chronic rhinitis, Nasal polyposis, Recurrent sinusitis |
OMIM:618695 |
| Superficial Siderosis |
|
Abnormal spinal cord morphology, Back pain, Functional abnormality of the bladder, Atrophy of the... |
ORPHA:247245 |
| Coccidioidomycosis |
|
Abnormality of the kidney, Arthritis, Abnormality of the bladder, Panniculitis, Abnormality of th... |
ORPHA:228123 |
| Myhre Syndrome |
|
Patent ductus arteriosus, Vertebral fusion, Camptodactyly, Enlarged vertebral pedicles, Short nec... |
OMIM:139210 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Nasal polyposis, Chronic rhinitis |
OMIM:242670 |
| Pfeiffer Syndrome Type 2 |
|
Intestinal malrotation, Cleft palate, High palate, Anal atresia |
ORPHA:93259 |
| Lethal Congenital Contracture Syndrome 5 |
|
Flexion contracture, Death in infancy, Congenital contracture, Thin ribs |
OMIM:615368 |
| Ciliary Dyskinesia, Primary, 19 |
|
Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis |
OMIM:614935 |
| Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Neoplasm of the rectum, Intestinal bleeding, Anal canal adenocarcinoma, Re... |
ORPHA:424016 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Renal dysplasia, Meningoencephalocele, Anal atresia, Cleft palate, Occipital encephalocele, Conge... |
OMIM:236670 |
| Malakoplakia |
|
Dysuria, Urinary urgency, Neoplasm of the rectum, Hematuria, Urinary bladder inflammation, Neopla... |
ORPHA:556 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Intestinal perforation, Abnormality of the anus, Acute kidney injury, Dysuria, Renal tubular epit... |
ORPHA:95455 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Patent ductus arteriosus, Urinary incontinence, High palate, Renal agenesis, Urethral stricture, ... |
OMIM:619522 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Hereditary Mixed Polyposis Syndrome |
|
Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Adenoca... |
ORPHA:157794 |
| Dyskeratosis Congenita, X-Linked |
|
Esophageal stricture, Phimosis, Pterygium, Hypospadias, Horseshoe kidney, Urethral stenosis, Oral... |
OMIM:305000 |
| Neu-Laxova Syndrome 1 |
|
Patent ductus arteriosus, Joint contracture of the hand, Yellow subcutaneous tissue covered by th... |
OMIM:256520 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
3-Methylglutaconic aciduria, Inguinal hernia, Hypospadias, Neonatal death, Death in childhood, Um... |
OMIM:614052 |
| Kindler Syndrome |
|
Phimosis, Esophageal stenosis, Urethral stenosis, Oral leukoplakia, Dysphagia, Anal stenosis |
OMIM:173650 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Narrow chest, Craniosynostosis, Lymphadenopathy, Hepatomegaly, Abnormal rib morphology, A... |
ORPHA:667 |
| Immunodeficiency 13 |
|
Nasal polyposis, Recurrent upper respiratory tract infections, Recurrent sinusitis |
OMIM:615518 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Rectovaginal fistula, Perineal fistula, Anal atresia, Rectal atresia |
ORPHA:3016 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Gastroesophageal reflux, Flexion contracture, Camptodactyly, Dysphagia, Anal stenosis |
OMIM:620029 |
| Denys-Drash Syndrome |
|
Nephroblastoma, Neonatal death, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidn... |
OMIM:194080 |
| Anorectal Anomalies |
|
Rectovaginal fistula, Anal atresia |
OMIM:107100 |
| Bare Lymphocyte Syndrome, Type I |
|
Recurrent bronchitis, Nasal polyposis |
OMIM:604571 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Reduced natural killer cell count, Crohn's disease, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619381 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Anteriorly placed anus, Anal atresia |
ORPHA:1352 |
| Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis |
OMIM:615444 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Thin ribs |
OMIM:614833 |
| Ciliary Dyskinesia, Primary, 1 |
|
Recurrent bronchitis, Communicating hydrocephalus, Nasal polyposis, Chronic rhinitis, Anosmia, Ab... |
OMIM:244400 |
| Ciliary Dyskinesia, Primary, 30 |
|
Absent outer dynein arms, Nasal polyposis, Nasal congestion |
OMIM:616037 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Genu varum, Anterior wedging of T11, Pectus carinatum, Kyphosis, Hypoplasia of the odontoid proce... |
OMIM:300106 |
| Yunis-Varon Syndrome |
|
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... |
ORPHA:3472 |
| Immunodeficiency 40 |
|
Rectal fistula, Focal active colitis |
OMIM:616433 |
| Li-Fraumeni Syndrome |
|
Stomach cancer, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Neoplasm of the rec... |
ORPHA:524 |
| Ciliary Dyskinesia, Primary, 35 |
|
Chronic rhinitis, Nasal polyposis |
OMIM:617092 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Patent ductus arteriosus, Absence of the sacrum, Intestinal malrotation, Ureteral stenosis, Renal... |
OMIM:270100 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Increased intervertebral space, Broad ribs, Platyspondyly |
OMIM:619727 |
| Ciliary Dyskinesia, Primary, 5 |
|
Chronic rhinitis, Nasal polyposis, Recurrent sinusitis |
OMIM:608647 |
| Meacham Syndrome |
|
Patent ductus arteriosus, Neonatal death, Death in infancy, Enlarged kidney, Aplasia of the right... |
OMIM:608978 |
| Ciliary Dyskinesia, Primary, 2 |
|
Absent inner and outer dynein arms, Nasal polyposis |
OMIM:606763 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria |
OMIM:602199 |
| Wolfram Syndrome 2 |
|
Gastric ulcer |
OMIM:604928 |
| Wiedemann-Rautenstrauch Syndrome |
|
Genu varum, Delayed closure of the anterior fontanelle, Flexion contracture, Absence of subcutane... |
OMIM:264090 |
| Ciliary Dyskinesia, Primary, 15 |
|
Nasal polyposis, Abnormal axonemal organization of respiratory motile cilia |
OMIM:613808 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Prominent floating ribs, High palate, Renal tubular acidosis, Distal renal tubular acidosis, Prox... |
ORPHA:2785 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Hydronephrosis, Megacystis |
OMIM:619431 |
| Johanson-Blizzard Syndrome |
|
Colonic diverticula, Malabsorption, Urethrovaginal fistula, Anal atresia, Anteriorly placed anus,... |
OMIM:243800 |
| Von Hippel-Lindau Disease |
|
Pancreatic cysts, Neoplasm of the pancreas, Polycythemia, Pancreatic islet cell adenoma, Adrenal ... |
ORPHA:892 |
| Relapsing Polychondritis |
|
Glomerulopathy, Arthritis, Hematuria, Anteriorly placed anus, Proteinuria, Renal insufficiency |
ORPHA:728 |
| Viss Syndrome |
|
Bifid tongue, Cleft soft palate, Bifid uvula, Hip dislocation, Pectus excavatum, Submucous cleft ... |
OMIM:619472 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Perianal dermatitis, Cleft palate... |
OMIM:619573 |
| Lipoid Proteinosis |
|
Nasal polyposis |
ORPHA:530 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Anteriorly placed anus |
ORPHA:26793 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Tubulointerstitial nephritis, Hematuria, Nasal polyposis, Eosinophilia, Proteinuria, Renal insuff... |
ORPHA:183 |
| Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia |
OMIM:615272 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho... |
ORPHA:449395 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Ankle clonus, Abnormal spinal cord morphology, Myelopathy, Dysphagia, Hamstring contractures |
ORPHA:139396 |
| Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis |
ORPHA:2717 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of th... |
ORPHA:447877 |
| Pancreatic insufficiency, combined exocrine |
|
Anal atresia |
OMIM:260450 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Ketonuria, Inguinal hernia, Hypospadias, Anteriorly placed anus, Dysphagia |
OMIM:220111 |
| Mednik Syndrome |
|
Jejunal atresia, Death in infancy, Volvulus, Microcolon, Neonatal death, Death in childhood |
OMIM:609313 |
| Yunis-Varon Syndrome |
|
Short 2nd finger, Absent thumb, Tapered finger, Tapered toe, Toe syndactyly, Hip dislocation, Abs... |
OMIM:216340 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Hypospadias, Anal atresia, Anal stenosis |
OMIM:180500 |
| Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Abnormality of the kidney, Arthritis, Abnormal spinal cord morpholo... |
ORPHA:289390 |
| Mismatch Repair Cancer Syndrome 3 |
|
Colon cancer, Neoplasm of the rectum |
OMIM:619097 |
| Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Anal atresia |
ORPHA:1572 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Colon cancer, Duodenal adenocarcinoma, Neoplasm of the rectum, Adenomatous colonic polyposis |
ORPHA:454840 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Patent ductus arteriosus, 3-Methylglutaconic aciduria, Death in infancy, Dysphagia, 3-Methylgluta... |
OMIM:617248 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Urachal cyst, Rectal abscess |
OMIM:608203 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Death in childhood, Death in infancy |
OMIM:612301 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent gastroenteritis, Anal fissure, Perianal dermatitis |
ORPHA:294023 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Congenital pyloric atresia |
ORPHA:158684 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, Neonatal death, Stage 5 chronic kidney disease... |
OMIM:619534 |
| Amoebiasis Due To Free-Living Amoebae |
|
Intrarenal abscess, Abnormal spinal cord morphology, Myocardial necrosis |
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 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Anteriorly placed anus, Metopic synostosis, Rectoperineal fistula |
OMIM:618748 |
| Sarcoidosis |
|
Tubulointerstitial nephritis, Abnormal nasal mucosa morphology, Eosinophilia, Nephrocalcinosis, R... |
ORPHA:797 |
| Carney Complex |
|
Neoplasm of the stomach, Tongue nodules, Esophageal neoplasm, Neoplasm of the rectum, Hepatocellu... |
ORPHA:1359 |
