{"orpha":2083,"name":"Prominent glabella-microcephaly-hypogenitalism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MacDermot-Winter syndrome"],"definition":"A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2083/","orphanet_url":"https://www.orpha.net/en/disease/detail/2083","names":{"fr":{"name":"Syndrome de glabelle proéminente-microcéphalie-petite taille","synonyms":["Syndrome de MacDermot-Winter"],"definition":"Syndrome rare caractérisé par une insuffisance prénatale de croissance, une microcéphalie, une hypoplasie génitale et des convulsions survenant dès la naissance."},"de":{"name":"Prominente Glabella - Mikrozephalie - Hypogenitalismus","synonyms":["Mac-Dermot-Winter-Syndrom"],"definition":"Prominente Glabella - Mikrozephalie - Hypogenitalismus ist ein sehr seltenes Syndrom und wurde bei 2 Geschwistern mit pränatalem Kleinwuchs, Mikrozephalie, hypoplastischen Genitalien und bei Geburt einsetzenden Krampfanfällen beschrieben."},"es":{"name":"Síndrome de glabela prominente-microcefalia-hipogenitalismo","synonyms":["Síndrome de MacDermot-Winter"],"definition":"El síndrome glabela prominente - microcefalia - hipogenitalismo es un síndrome muy poco frecuente, descrito en dos hermanos, que se caracteriza por la aparición prenatal de un retraso del crecimiento, microcefalia, genitales hipoplásicos y convulsiones que aparecen desde el nacimiento."},"it":{"name":"Glabella prominente - microcefalia - bassa statura","synonyms":["Sindrome di MacDermot-Winter"],"definition":"La sindrome glabella prominente - microcefalia - ipogenitalismo è molto rara; è stata descritta in due fratelli ed è caratterizzata da ritardo della crescita ad esordio prenatale, microcefalia, genitali ipoplasici e convulsioni ad esordio alla nascita."},"nl":{"name":"Prominente glabella - microcefalie - hypogenitalisme-syndroom","synonyms":["Syndroom van MacDermot-Winter"],"definition":"Een zeer zeldzaam syndroom, beschreven bij twee broers/zussen, en gekenmerkt door prenatale aanvang van groeideficiëntie, microcefalie, hypoplastische geslachtsorganen, en bij de geboorte optredende convulsies."},"pt":{"name":"Síndrome de glabela proeminente-microcefalia-hipogenitalismo","synonyms":["Síndrome MacDermot-Winter"]},"pl":{"name":"Wydatna gładzizna - mikrocefalia- hipogenitalizm","synonyms":["Zespół Mac Dermota i Wintera"]},"cs":{"name":"Syndrom zahrnující prominující glabelu, mikrocefalii a hypogenitalismus","synonyms":["Mac Dermotův-Winterův syndrom","Mac Dermot-Winterův syndrom"]},"uk":{"name":"Синдром вираженої глабели-мікроцефалії-гіпогеніталізму","synonyms":["Синдром Макдермота-Вінтерна"],"definition":"A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions."},"zh":{"name":"眉间突出-小头畸形-性腺功能减退综合征","synonyms":["MacDermot-Winter综合征"]},"tr":{"name":"Belirgin glabella-mikrosefali-hipogenitalizm sendromu","synonyms":["MacDermot-Winter sendromu"]}},"xrefs":[{"source":"OMIM","code":"247990","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009543","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537714","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796024","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"144","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2705483[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2705483[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002057","label":"Prominent glabella","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null}]}}