{"orpha":2839,"name":"Pelvis-shoulder dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Kosenow syndrome","Scapuloiliac dysostosis"],"definition":"A rare dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis. Additional skeletal abnormalities may include hypoplasia of the clavicles, phalanges, ribs, femora and fibula, spina bifida, prominent lumbar lordosis, camptodactyly and clubbed feet. Eye anomalies (coloboma of iris and retina) have occasionally been reported. Patients do not exhibit craniocervical abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2839/","orphanet_url":"https://www.orpha.net/en/disease/detail/2839","names":{"fr":{"name":"Dysplasie de l'épaule et du pelvis","synonyms":["Dysostose scapulo-iliaque","Syndrome de Kosenow"],"definition":"Dysostose rare caractérisée par une hypoplasie symétrique des omoplates et des ailes iliaques du bassin. D'autres anomalies squelettiques peuvent inclure une hypoplasie des clavicules, des phalanges, des côtes, des fémurs et des péronés, un spina bifida, une lordose lombaire marquée, une camptodactylie et des pieds bots. Des anomalies oculaires (colobome de l'iris et de la rétine) ont été rapportées à l'occasion. Les patients ne présentent pas d'anomalies cranio-cervicales."},"de":{"name":"Becken-Schulter-Dysplasie","synonyms":["Dysostose, skapulo-iliakale","Kosenow-Syndrom"],"definition":"Die Becken-Schulter-Dysplasie ist eine seltene fokale Dysostose. Charakteristisch ist eine symmetrische Hypoplasie der Schulterblätter und der Beckenschaufeln."},"es":{"name":"Displasia de hombro y pelvis","definition":"Es una disostosis poco frecuente caracterizada por hipoplasia simétrica de las escápulas y las alas ilíacas de la pelvis. Otras anomalías esqueléticas pueden incluir hipoplasia de las clavículas, falanges, costillas, fémures y peroné, espina bífida, lordosis lumbar prominente, camptodactilia y pie zambo. Ocasionalmente se ha descrito anomalías oculares (coloboma de iris y retina). Los pacientes no presentan anomalías craneocervicales."},"it":{"name":"Displasia scapola-bacino","synonyms":["Disostosi scapoloiliaca"]},"nl":{"name":"Dysplasie van bekken-schouder","synonyms":["Scapulo-iliacale dysostose","Syndroom van Kosenow"],"definition":"Een zeldzame dysostose, gekenmerkt door symmetrische hypoplasie van scapulae en darmbeenvleugels van het bekken. Mogelijke bijkomende afwijkingen van skelet zijn onder meer hypoplasie van sleutelbeen, falangen, rib, femur en fibula, alsook spina bifida, opvallende lumbale lordose, camptodactylie en klompvoet. Anomalieën van oog (coloboom van iris en retina) werden occasioneel gerapporteerd. Patiënten vertonen geen craniocervicale afwijkingen."},"pt":{"name":"Displasia escapulo-pélvica","synonyms":["Disostose escapulo-ilíaca"]},"pl":{"name":"Dysplazja miedniczo-ramienna","synonyms":["Dyzostoza łopatkowo-biodrowa","Zespół Kosenowa"]},"cs":{"name":"Dysplázie pánve a ramene","synonyms":["Skapuloiliakální dysostóza","Kosenowův syndrom"]},"uk":{"name":"Тазово-плечова дисплазія","synonyms":["Синдром Косенова","Лопатково-куприковий дизостоз"],"definition":"Pelvis-shoulder dysplasia is a rare focal skeletal dysostosis characterized by symmetrical hypoplasia of the scapulae and the iliac wings of the pelvis."},"zh":{"name":"骨盆-肩发育不良","synonyms":["肩胛髂骨发育不良"]},"tr":{"name":"Pelvis-omuz displazisi","synonyms":["Kosenow sendromu","Skapuloiliak dizostoz"]}},"xrefs":[{"source":"OMIM","code":"169550","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008217","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566811","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868508","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-04","source":"7103674[PMID]_11146473[PMID]_9732492[PMID]_11146474[PMID]_16025020[PMID]_9732492[PMID]","terms":[{"hpo":"HP:0005775","label":"Multiple skeletal anomalies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006077","label":"Absent proximal finger flexion creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008807","label":"Acetabular dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006710","label":"Aplasia/Hypoplasia of the clavicles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006492","label":"Aplasia/Hypoplasia of the fibula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006712","label":"Aplasia/Hypoplasia of the ribs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006713","label":"Aplasia/Hypoplasia of the scapulae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005613","label":"Aplasia/hypoplasia of the femur","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001591","label":"Bell-shaped thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007633","label":"Bilateral microphthalmos","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003083","label":"Dislocated radial head","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009937","label":"Facial hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005769","label":"Fifth finger distal phalanx clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002324","label":"Hydranencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003175","label":"Hypoplastic ischia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003173","label":"Hypoplastic pubic bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000890","label":"Long clavicles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005026","label":"Mesomelic/rhizomelic limb shortening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000171","label":"Microglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008857","label":"Neonatal short-trunk short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008472","label":"Prominent protruding coccyx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000480","label":"Retinal coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009100","label":"Thick anterior alveolar ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002515","label":"Waddling gait","frequency":"Frequent (79-30%)","criteria":null}]}}