{"orpha":2078,"name":"Geroderma osteodysplastica","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2078/","orphanet_url":"https://www.orpha.net/en/disease/detail/2078","names":{"fr":{"name":"Gérodermie ostéodysplasique","definition":"La gérodermie ostéodysplasique (GO) est caractérisée par une peau flasque et ridée (surtout au dos des mains et des pieds et sur l'abdomen), des signes progéroïdes, une luxation de hanche, une hyperlaxité ligamentaire, une très petite taille/nanisme, une ostéoporose sévère, des anomalies vertébrales et des fractures spontanées, un retard du développement et un déficit intellectuel léger."},"de":{"name":"Geroderma osteodysplastica","definition":"Das Geroderma osteodysplasticum (GO) ist gekennzeichnet durch schlaffe, runzlige Haut (besonders an Hand- und Fußrücken und Abdomen), progeroide Zeichen, Hüftluxation, überstreckbare Gelenke, hochgradigen Kleinwuchs,schwere Osteoporose, Wirbelanomalien, Spontanfrakturen, Entwicklungsverzögerung und leichtes intellektuelles Defizit."},"es":{"name":"Gerodermia osteodisplástica","definition":"La gerodermia osteodisplástica (GO) se caracteriza por una piel laxa y arrugada (especialmente en el dorso de las manos y de los pies, y en el abdomen), signos de progeria, luxación de cadera, laxitud articular, baja estatura/enanismo grave, osteoporosis grave, anomalías vertebrales con fracturas espontáneas, retraso del desarrollo y discapacidad intelectual leve."},"it":{"name":"Gerodermia osteodisplastica","synonyms":["Nanismo di Walt Disney"]},"nl":{"name":"Geroderma osteodysplastica","definition":"Geroderma osteodysplastica (GO) wordt gekenmerkt door slappe en gerimpelde huid (vooral op dorsum van handen en voeten en op abdomen), progeroïde kenmerken, luxatie van heup, gewrichtslaxiteit, ernstige kleine gestalte/dwerggroei, ernstige osteoporose, afwijkingen van wervels, spontane fracturen, ontwikkelingsachterstand, en milde intellectuele achterstand."},"pt":{"name":"Gerodermia osteodisplástica","synonyms":["Nanismo Walt Disney"],"definition":"A gerodermia osteodisplástica (GO) é caracterizada por pele flácida e enrugada (especialmente no dorso das mãos, pés e abdómen), características progeroides, luxação da anca, laxidão articular, baixa estatura grave/nanismo, osteoporose grave, anomalias vertebrais e fraturas espontâneas, atraso no desenvolvimento e perturbação do desenvolvimento intelectual ligeira."},"pl":{"name":"Geroderma osteodysplastica","synonyms":["Karłowatość Walta Disneya"]},"cs":{"name":"Geroderma osteodysplastica","synonyms":["Trpaslictví Walta Disneyho"]},"uk":{"name":"Остеодиспластична геродерма","definition":"Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit."},"zh":{"name":"骨发育不良性老年状皮肤"},"tr":{"name":"Geroderma osteodisplastika"}},"xrefs":[{"source":"OMIM","code":"231070","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1523755506"},{"source":"MONDO","code":"0009271","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537799","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432255","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"413","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":209,"name":"Cutis laxa","classifications":[147,156,182,186,187]},{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"GORAB","name":"golgin, RAB6 interacting","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18997784[PMID]","hgnc":"25676","ensembl":"ENSG00000120370","omim":"607983","loci":["1q24.2"]},{"symbol":"PYCR1","name":"pyrroline-5-carboxylate reductase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21204221[PMID]_24035636[PMID]","hgnc":"9721","ensembl":"ENSG00000183010","omim":"179035","loci":["17q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"18304158[PMID]"},{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011849","label":"Abnormal bone ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004568","label":"Beaking of vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004586","label":"Biconcave vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002953","label":"Vertebral compression fracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007495","label":"Prematurely aged appearance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null}]}}