{"orpha":2786,"name":"Osteoporosis-oculocutaneous hypopigmentation syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hernández-Fragoso syndrome","OOCHS"],"definition":"A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2786/","orphanet_url":"https://www.orpha.net/en/disease/detail/2786","names":{"fr":{"name":"Syndrome d'ostéoporose-hypopigmentation oculocutanée","synonyms":["OOCHS","Syndrome d'Hernández-Fragoso"],"definition":"Maladie génétique rare caractérisée par une hypopigmentation oculocutanée congénitale, une déficience visuelle, une ostéoporose généralisée accompagnée d'anomalies squelettiques telles qu'une petite taille, un tronc et un cou courts, une cyphose, une scoliose et une platyspondylie, ainsi qu'une dysmorphie faciale (philtrum long, petite bouche, micrognathie et oreilles décollées). Une hyperlaxité articulaire modérée et une hypotrophie musculaire ont également été décrites."},"de":{"name":"Osteoporose-okulokutane Hypopigmentierung-Syndrom","synonyms":["Hernández-Fragoso-Syndrom","OOCHS"],"definition":"Eine seltene genetische Erkrankung, die durch angeborene okulokutane Hypopigmentierung, Sehbehinderung, generalisierte Osteoporose mit Skelettanomalien wie Kleinwuchs, kurzem Hals und Rumpf, Kyphose, Skoliose und Platyspondylie sowie Gesichtsdysmorphien (einschließlich langem Philtrum, kleinem Mund, Mikrognathie und abstehenden Ohren) gekennzeichnet ist. Es wurde auch über eine mäßige Gelenkhyperelastizität und Muskelhypotrophie berichtet."},"es":{"name":"Síndrome de osteoporosis-hipopigmentación oculocutánea","synonyms":["OOCHS","Síndrome de Hernández-Fragoso"],"definition":"Es una enfermedad de base genética y poco frecuente, caracterizada por hipopigmentación oculocutánea congénita, disfunción visual, osteoporosis generalizada con anomalías esqueléticas tales como talla baja, cuello y tronco cortos, cifosis, escoliosis y platispondilia, y rasgos faciales dismórficos (filtrum largo, boca pequeña, micrognatia y orejas prominentes). También se ha descrito hiperelasticidad articular moderada e hipotrofia muscular."},"it":{"name":"Sindrome osteoporosi-ipopigmentazione oculocutanea","synonyms":["OOCHS","Sindrome di Hernández-Fragoso"],"definition":"Si tratta di una malattia genetica rara caratterizzata da ipopigmentazione oculocutanea congenita, deficit visivi, osteoporosi generalizzata con anomalie scheletriche (bassa statura, collo e tronco corti, cifosi, scoliosi e platispondilia) e dismorfismi facciali (filtro lungo, bocca piccola, micrognazia e orecchie prominenti). I pazienti possono presentare anche iperlassità articolare moderata e ipotrofia muscolare."},"nl":{"name":"Osteoporose - oculocutane hypopigmentatie-syndroom","synonyms":["Hernández-Fragososyndroom","OOCHS"],"definition":"Een zeldzame, genetische aandoening, gekenmerkt door congenitale oculocutane hypopigmentatie, verlies van gezichtsvermogen, gegeneraliseerde osteoporose met skeletanomalieën zoals kleine gestalte, korte hals en romp, kyfose, scoliose, en platyspondylie, en dysmorfe gelaatskenmerken (waaronder lang filtrum, kleine mond, micrognathie, en prominente oren). Matige hypermobiliteit van gewrichten en spierhypotrofie werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome osteoporose-hipopigmentação oculo-cutânea","synonyms":["OOCHS","Síndrome Hernandez-Fragoso"]},"pl":{"name":"Osteoporoza - zespół hipopigmentacji oczno-skórnej","synonyms":["OOCHS","Zespół Hernandeza i Fragoso"]},"cs":{"name":"Syndrom zahrnující osteoporózu a okulokutánní hypopigmentaci","synonyms":["OOCHS","Hernándezův-Fragosův syndrom","Hernández-Fragosův syndrom"]},"uk":{"name":"Синдром остеопорозу-окулокутанної гіпопігментації","synonyms":["Синдром Ернандеса-Фрагосо","OOCHS"],"definition":"A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported."},"zh":{"name":"骨质疏松症-眼皮肤色素减退综合征","synonyms":["Hernández-Fragoso综合征"]},"tr":{"name":"Osteoporoz-okülokutan hipopigmentasyon sendromu","synonyms":["OOCHS","Hernández-Fragoso sendromu"]}},"xrefs":[{"source":"OMIM","code":"601220","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.KY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"125464990"},{"source":"MONDO","code":"0011020","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536062","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832592","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"404","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8721572[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"8721572[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-17","source":"8721572[PMID]","terms":[{"hpo":"HP:0000479","label":"Abnormal retinal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001022","label":"Albinism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null}]}}