{"orpha":2324,"name":"Osteopenia-intellectual disability-sparse hair syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Kaler-Garrity-Stern syndrome"],"definition":"A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2324/","orphanet_url":"https://www.orpha.net/en/disease/detail/2324","names":{"fr":{"name":"Syndrome d'ostéopénie-déficience intellectuelle-hypotrichose","synonyms":["Syndrome de Kaler-Garrity-Stern"],"definition":"Syndrome rare caractérisé par des cheveux clairsemés, une ostéopénie, une déficience intellectuelle, une dysmorphie faciale mineure, une laxité articulaire et une hypotonie. Aucun nouveau cas n'a été décrit dans la littérature depuis 1992."},"de":{"name":"Osteopenie-Intelligenzminderung-spärliches Haar-Syndrom","synonyms":["Kaler-Garrity-Stern-Syndrom"],"definition":"Ein seltenes Syndrom, das durch schütteres Haar, Osteopenie, Intelligenzminderung, geringfügige Gesichtsanomalien, Gelenkhypermobilität und Hypotonie gekennzeichnet ist. Seit 1992 gibt es in der Literatur keine weiteren Beschreibungen."},"es":{"name":"Síndrome de osteopenia-discapacidad intelectual-cabello escaso","synonyms":["Síndrome de Kaler-Garrity-Stern"],"definition":"Es un síndrome poco frecuente caracterizado por pelo escaso, osteopenia, discapacidad intelectual, anomalías faciales menores, laxitud articular e hipotonía. No ha habido más casos descritos en la literatura desde 1992."},"it":{"name":"Sindrome osteopenia-disabilità intellettiva-capelli radi","synonyms":["Osteopenia - deficit cognitivo - ipotricosi","Sindrome Kaler-Garrity-Stern"],"definition":"La sindrome di Kaler-Garrity-Stern è una sindrome rara, descritta in due sorelle di origini mennonita, caratterizzata da capelli radi, osteopenia, disabilità cognitiva, lievi dismorfismi facciali, lassità articolare e ipotonia. Dal 1986 non sono stati descritti altri casi."},"nl":{"name":"Osteopenie - intellectuele achterstand - dun haar-syndroom","synonyms":["Syndroom van Kaler-Garrity-Stern"],"definition":"Een zeldzaam syndroom, gekenmerkt door schaars haar, osteopenie, intellectuele achterstand, minieme faciale afwijkingen, gewrichtslaxiteit en hypotonie. Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de osteopenia-perturbação do desenvolvimento intelectual-cabelo rarefeito","synonyms":["Síndrome Kaler-Garrity-Stern"]},"pl":{"name":"Zespół osteopenii, niepełnosprawności intelektualnej i rzadkich włosów","synonyms":["Zespół Kalera, Garrity'ego i Sterna"],"definition":"Rzadki zespół charakteryzujący się rzadkimi włosami, osteopenią, niepełnosprawnością intelektualną, niewielkimi nieprawidłowościami twarzy, wiotkością stawów i hipotonią. Od 1992 roku nie było dalszych opisów w literaturze."},"cs":{"name":"Kalerův-Garrityho-Sternův syndrom","synonyms":["Syndrom zahrnující osteopenii, mentální retardaci a řídké vlasy","Kaler-Garrity-Sternův syndrom"]},"uk":{"name":"Синдром остеопенії-інтелектуальної недостатності-рідкого волосся","synonyms":["Синдром Калера-Герріті-Стерна"],"definition":"A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992."},"zh":{"name":"骨质缺乏-智力障碍-脱发-综合征","synonyms":["Kaler-Garrity-Stern 综合征"]},"tr":{"name":"Osteopeni-zihinsel yetersizlik-seyrek saç sendromu","synonyms":["Kaler-Garrity-Stern sendromu"]}},"xrefs":[{"source":"OMIM","code":"259690","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.KY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1116810506"},{"source":"MONDO","code":"0009814","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537706","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850140","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"354","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"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":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":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1415349[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1415349[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-05","source":"1415349[PMID]","terms":[{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004691","label":"2-3 toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001757","label":"High-frequency sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null}]}}