{"orpha":2779,"name":"Osteopathia striata-pigmentary dermopathy-white forelock syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Whyte-Murphy syndrome"],"definition":"A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2779/","orphanet_url":"https://www.orpha.net/en/disease/detail/2779","names":{"fr":{"name":"Syndrome d'ostéopathie striée-hyperpigmentation-mèche blanche","synonyms":["Syndrome de Whyte-Murphy"],"definition":"Dysplasie osseuse primaire rare caractérisée par l'association d'une ostéopathie striée (striations longitudinales dans la plupart des os longs) avec une dermopathie maculaire hyperpigmentée et une mèche de cheveux blancs."},"de":{"name":"Osteopathia striata-Hyperpigmentierung-weiße Stirnlocke-Syndrom","synonyms":["White-Murphy-Syndrom"],"definition":"Eine seltene primäre Knochendysplasie, die durch eine Kombination von Osteopathia striata (Längsstreifen in den meisten Röhrenknochen) mit einer makulösen, hyperpigmentierten Dermopathie und einer weißen Stirnlocke gekennzeichnet ist."},"es":{"name":"Síndrome de osteopatía estriada-hiperpigmentación-mechón blanco","synonyms":["Síndrome de White-Murphy"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por la asociación de osteopatia estriada (estriaciones longitudinales en huesos largos) y de dermopatía macular hiperpigmentada y un mechón de pelo blanco."},"it":{"name":"Osteopatia striata - iperpigmentazione - ciocche di capelli bianchi","synonyms":["Sindrome di Whyte-Murphy"]},"nl":{"name":"Osteopathia striata - pigmentaire dermopathie - witte voorhoofdslok-syndroom","synonyms":["Syndroom van Whyte-Murphy"],"definition":"Een zeldzame primaire botdysplasie, gekenmerkt door de associatie van osteopathia striata (longitudinale striaties doorheen de meeste pijpbeenderen) met een maculaire, hypergepigmenteerde dermopathie en witte voorhoofdslok."},"pt":{"name":"Síndrome de osteopatia estriada-dermopatia pigmentar-madeixa branca","synonyms":["Síndrome Whyte-Murphy"]},"pl":{"name":"Osteopathia striata - dermopatia barwnikowa - kępka białych włosów","synonyms":["Zespół Whyte i Murphy'ego"]},"cs":{"name":"Syndrom zahrnující osteopathia striata, pigmentární dermopatii a vitiligo nad čelem","synonyms":["Whyteův-Murphyho syndrom","Whyte-Murphyho syndrom"]},"uk":{"name":"Синдром смугастої остеопатії-пігментної дермопатії-білого чуба","synonyms":["Синдром Уайта-Мерфі"],"definition":"A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock."},"zh":{"name":"条纹状骨病- 色素性皮肤病-白色额发综合征","synonyms":["Whyte-Murphy综合征"]},"tr":{"name":"Osteopati striata-pigmenter dermopati-beyaz ön ayak sendromu","synonyms":["Whyte-Murphy sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"87848325"},{"source":"MONDO","code":"0017197","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536054","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931096","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5562","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]},{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","X-linked dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"7405956[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7405956[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000940","label":"Abnormal diaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007412","label":"Macular hyperpigmented dermopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010740","label":"Osteopathia striata","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100670","label":"Rough bone trabeculation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002211","label":"White forelock","frequency":"Very frequent (99-80%)","criteria":null}]}}