{"orpha":3055,"name":"X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Young-Hughes syndrome"],"definition":"X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3055/","orphanet_url":"https://www.orpha.net/en/disease/detail/3055","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-hypogonadisme-ichtyose-obésité-petite taille","synonyms":["Syndrome de Young-Hughes"],"definition":"Un syndrome rare de déficit intellectuel lié à l'X, caractérisé par un déficit intellectuel, une petite taille, une obésité, un hypogonadisme primaire et un trouble cutané ichtyosiforme. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1982."},"de":{"name":"X-chromosomale Intelligenzminderung-Hypogonadismus-Ichthyose-Adipositas-Kleinwuchs-Syndrom","synonyms":["Young-Hughes-Syndrom"],"definition":"Ein seltene X-chromosomale Form der Intelligenzminderung, die durch das Auftreten einer Intelligenzminderung in Verbindung mit Kleinwuchs, Adipositas, primärem Hypogonadismus und einer ichthyosiformen Hauterkrankung gekennzeichnet ist. Seit 1982 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de discapacidad intelectual-hipogonadismo-ictiosis-obesidad-talla baja ligado al cromosoma X","synonyms":["Síndrome de Young-Hughes"],"definition":"El síndrome de discapacidad intelectual ligada al cromosoma X - hipogonadismo - ictiosis - obesidad - talla baja, es un síndrome poco frecuente de discapacidad intelectual ligado al cromosoma X caracterizado por discapacidad intelectual asociada a talla baja, obesidad, hipogonadismo primario y una afección cutánea ictiosiforme. No ha habido más descripciones en la literatura desde 1982."},"it":{"name":"Sindrome disabilità intellettiva legata all' X- ipogonadismo-ittiosi-obesità-bassa statura","synonyms":["Sindrome di Young-Hughes"],"definition":"La sindrome da riardo mentale legato all'X, ipogonadismo, ittiosi, obesità e bassa statura è una malattia rara da disabilità intellettiva legata all'X. È caratterizzata da deficit cognitivo associato a bassa statura, obesità, ipogonadismo primitivo e un quadro cutaneo ittiosiforme. Non sono stati descritti nuovi casi dopo il 1982."},"nl":{"name":"X-gebonden intellectuele achterstand - hypogonadisme - ichthyosis - obesitas - kleine gestalte-syndroom","synonyms":["Syndroom van Young-Hughes"],"definition":"X-gebonden intellectuele achterstand - hypogonadisme - ichthyosis - obesitas - kleine gestalte-syndroom is een zeldzaam X-gebonden syndroom met intellectuele achterstand dat gekarakteriseerd wordt door intellectuele achterstand geassocieerd met kleine gestalte, obesitas, primair hypogonadisme en een ichthyosiforme huidaandoening. Sinds 1982 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-hipogonadismo-ictiose-obesidade-baixa estatura ligada ao X","synonyms":["Síndrome Young-Hugues"]},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X - niski wzrost - otyłość","synonyms":["Zespół Younga i Huguesa"]},"cs":{"name":"X-vázaný syndrom zahrnující mentální retardaci, hypogonadismus, ichtyózu, obezitu a malý vzrůst","synonyms":["Youngův-Hughesův syndrom","Young-Hughesův syndrom"]},"uk":{"name":"Синдром Х-зчепленої розумової відсталості-гіпогонадизму-іхтіозу-ожиріння- низькорослості","synonyms":["Синдром Янг-Хьюза"],"definition":"X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome is a rare X-linked intellectual disability syndrome characterized by intellectual disability associated with short stature, obesity, primary hypogonadism and an ichthyosiform skin condition. There have been no further descriptions in the literature since 1982."},"zh":{"name":"X连锁智力障碍-性腺功能减退-鱼鳞病-肥胖-身材矮小综合征","synonyms":["Young-Hughes综合征"]},"tr":{"name":"X'e bağlı zihinsel yetersizlik-hipogonadizm-iktiyoz-obezite-kısa boy sendromu","synonyms":["Young-Hughes sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017614","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536715","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796264","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"345","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":85331,"name":"OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":281244,"name":"Autosomal ichthyosis syndrome with other associated signs","classifications":[156,187]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"7175926[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7175926[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010468","label":"Aplasia/Hypoplasia of the testes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004299","label":"Hernia of the abdominal wall","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null}]}}