{"orpha":2090,"name":"GMS syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Goniodysgenesis-intellectual disability-short stature syndrome"],"definition":"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2090/","orphanet_url":"https://www.orpha.net/en/disease/detail/2090","names":{"fr":{"name":"Syndrome GMS","synonyms":["Syndrome de goniodysgénésie-déficience intellectuelle-petite taille"],"definition":"Le syndrome GMS décrit un syndrome extrêmement rare associant une goniodysgénésie, une déficience intellectuelle et une petite taille, ainsi qu'une microcéphalie, un nez court, de petites mains et de petites oreilles. Il n'a été observé que chez une seule famille à ce jour, et aucun autre cas n'a été décrit dans la littérature depuis 1992."},"de":{"name":"GMS-Syndrom","synonyms":["Goniodysgenesie-Intelligenzminderung-Kleinwuchs-Syndrom"],"definition":"Das GMS-Syndrom stellt ein extrem seltenes Syndrom dar, das mit Goniodysgenese, Intelligenzminderung und Kleinwuchs einhergeht. Zusätzlich treten Mikrozephalie, eine kurze Nase, kleine Hände und Ohren auf. Bisher wurde es in einer Familie beschrieben. Seit 1992 sind in der Fachliteratur keine weiteren Fälle bekannt geworden."},"es":{"name":"Síndrome GMS","synonyms":["Síndrome de goniodisgenesia-discapacidad intelectual-talla baja"],"definition":"El síndrome GMS es un síndrome extremadamente raro que caracterizado por disgenesia gonadal (anomalías en genitales internos: testículos en varones y ovarios en mujeres), discapacidad intelectual y baja estatura, además de microcefalia, nariz corta, manos y orejas pequeñas. Hasta la fecha sólo se ha descrito en una familia y desde 1992 no ha se ha informado de nuevos casos en la literatura."},"it":{"name":"Sindrome GMS","synonyms":["Sindrome goniodisgenesia-disabilità intellettiva-bassa statura"],"definition":"La sindrome GMS è una sindrome estremamente rara, caratterizzata da goniodisgenesi, disabilità cognitiva e bassa statura, con microcefalia, naso corto, mani e orecchie piccole. Finora è stata descritta in una sola famiglia e nessun nuovo caso è stato descritto dopo il 1992."},"nl":{"name":"GMS-syndroom","synonyms":["Goniodysgenesie - intellectuele achterstand - kleine gestalte-syndroom"],"definition":"GMS-syndroom beschrijft een uiterst zeldzaam syndroom waarbij goniodysgenesie, verstandelijke handicap en een kleine gestalte naast microcefalie, korte neus, kleine handen en oren worden opgemerkt. Tot op heden werd dit bij één familie beschreven. Er zijn geen nieuwe gevallen gemeld sinds 1992."},"pt":{"name":"Síndrome GMS","synonyms":["Síndrome de disgenesia gonadal-perturbação do desenvolvimento intelectual-baixa estatura"]},"pl":{"name":"Zespół GMS","synonyms":["Goniodysgeneza - niepełnosprawność intelektualna - niski wzrost"]},"cs":{"name":"GMS syndrom","synonyms":["Syndrom zahrnující goniodysgenezi, mentální retardaci a nízký vzrůst"]},"uk":{"name":"Синдром GMS","synonyms":["Синдром гоніодисгенезу - інтелектуальної недостатності - низького зросту"],"definition":"GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992."},"zh":{"name":"GMS综合征","synonyms":["前房角发育不全-智力障碍-身材矮小综合征"]},"tr":{"name":"GMS sendromu","synonyms":["Gonyodisgenezi-zihinsel yetersizlik-kısa boy sendromu"]}},"xrefs":[{"source":"OMIM","code":"138770","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007679","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564214","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1841854","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2523","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519276,"name":"Anterior segment developmental anomaly with extraocular manifestations","classifications":[147,156,189]},{"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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"1308345[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1308345[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000558","label":"Rieger anomaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Frequent (79-30%)","criteria":null}]}}