{"orpha":3068,"name":"Intellectual disability-myopathy-short stature-endocrine defect syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Chudley-Rozdilsky syndrome"],"definition":"Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3068/","orphanet_url":"https://www.orpha.net/en/disease/detail/3068","names":{"fr":{"name":"Syndrome de déficience intellectuelle-myopathie-petite taille-défaut endocrinien","synonyms":["Syndrome de Chudley-Rozdilsky"],"definition":"Un syndrome rare de myopathie congénitale caractérisé par une myopathie non progressive (se présentant par une légère faiblesse faciale et généralisée, un ptosis bilatéral et une lordose lombaire sévère), un déficit intellectuel sévère, une petite taille et un infantilisme sexuel (causé par un hypogonadisme hypogonadotrophique). La présence d'une petite fosse pituitaire a aussi été rapportée. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1985."},"de":{"name":"Intelligenzminderung-Myopathie-Kleinwuchs-endokrine Störung-Syndrom","synonyms":["Chudley-Rozdilsky-Syndrome"],"definition":"Ein seltenes kongenitales Myopathie-Syndrom, das gekennzeichnet ist durch nicht-progressive Myopathie (in Form leichter Schwäche der Fazialmuskeln und generalisierter Schwäche, beidseitiger Ptosis und schwerer lumbaler Lordose), schwere Intelligenzminderung, Kleinwuchs und ausbleibende Pubertätsentwicklung (aufgrund von hypogonadotropem Hypogonadismus). Eine verkleinerte Hypophysengrube wurde ebenfalls beschrieben. Seit 1985 gab es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de discapacidad intelectual-miopatía-talla baja-defecto endocrino","synonyms":["Síndrome de Chudley-Rozdilsky"],"definition":"El síndrome de discapacidad intelectual - miopatía - talla baja - defecto endocrino es un síndrome de miopatía congénita poco frecuente caracterizado por miopatía no progresiva (que se manifiesta con debilidad facial y generalizada leve, ptosis bilateral y lordosis lumbar grave), discapacidad intelectual grave, talla baja e infantilismo sexual (debido a hipogonadismo hipogonadotrópico). También se observó la presencia de una silla turca pequeña. No ha habido más descripciones en la literatura desde 1985."},"it":{"name":"Sindrome da disabilità intellettiva-miopatia-bassa statura-difetto endocrino","synonyms":["Sindrome Chudley-Rozdilsky"],"definition":"La sindrome da disabilità intellettiva, miopatia, bassa statura e difetto endocrino è una miopatia congenita rara, caratterizzata da miopatia non progressiva (che esordisce con debolezza facciale lieve e generalizzata, ptosi bilaterale e grave lordosi lombare), disabilità intellettiva grave, bassa statura e infantilismo sessuale (secondario all'ipogonadismo ipogonadrotopo). È stata segnalata una fossa ipofisaria piccola. Non sono stati descritti nuovi casi dopo il 1985."},"nl":{"name":"Intellectuele achterstand - myopathie - kleine gestalte - endocrien defect-syndroom","synonyms":["Syndroom van Chudley-Rozdilsky"],"definition":"Intellectuele achterstand - myopathie - kleine gestalte - endocrien defect-syndroom is een zeldzaam, congenitaal myopathiesyndroom dat gekarakteriseerd wordt door niet-progressieve myopathie (die zich manifesteert met milde faciale en gegeneraliseerde zwakte, bilaterale ptose, en ernstige lumbale lordose), ernstige intellectuele achterstand, kleine gestalte, en seksueel infantilisme (door hypogonadotroop hypogonadisme). De aanwezigheid van een kleine fossa hypofysialis werd ook opgemerkt. Sinds 1985 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-miopatia-baixa estatura-alterações endócrinas","synonyms":["Síndrome Chudley-Rozdilsky"]},"pl":{"name":"Niepełnosprawność intelektualna - miopatia - niski wzrost - zaburzenia endokrynologiczne","synonyms":["Zespół Chudley'a i Rozdilsky'ego"]},"cs":{"name":"Syndrom zahrnující mentální retardaci, myopatii, malý vzrůst a endokrinní poruchu","synonyms":["Chudleyho-Rozdilskyho syndrom","Chudley-Rozdilskyho syndrom"]},"uk":{"name":"Синдром інтелектуальної недостатності - міопатії - низькорослості-ендокринної недостатності","synonyms":["Синдром Чадлі-Роздільського"],"definition":"Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985."},"zh":{"name":"智力障碍-肌病-身材矮小-内分泌缺陷综合征","synonyms":["Chudley-Rozdilsky综合征"]},"tr":{"name":"Zihinsel yetersizlik-miyopati-kısa boy-endokrin defekt sendromu","synonyms":["Chudley-Rozdilsky sendromu"]}},"xrefs":[{"source":"OMIM","code":"253320","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009671","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535458","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1854663","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1358","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":97245,"name":"Congenital myopathy","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3970066[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3970066[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004303","label":"Abnormal muscle fiber morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000597","label":"Ophthalmoparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null}]}}