{"orpha":2230,"name":"Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Salti-Salem syndrome"],"definition":"A rare endocrine disease characterized by congenital hypogonadotropic hypogonadism and frontoparietal alopecia. Affected males also exhibit an absence of facial, axillary and pubic hair. Affected females present with more severe alopecia evident from early childhood, primary amenorrhea, absence of axillary and pubic hair, and lack of breast development. Except for failure of sexual development, all affected individuals had normal physical and intellectual development. There have been no further descriptions in the literature since 1979.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2230/","orphanet_url":"https://www.orpha.net/en/disease/detail/2230","names":{"fr":{"name":"Syndrome d'hypogonadisme hypergonadotrope-alopécie fronto-pariétale","synonyms":["Syndrome de Salti-Salem"],"definition":"Maladie endocrinienne rare caractérisée par un hypogonadisme hypogonadotrope congénital et une alopécie frontopariétale. Chez les hommes atteints, on observe par ailleurs une absence de pilosité faciale, axillaire et pubienne. Les femmes présentent une alopécie plus sévère commençant dans la petite enfance, une aménorrhée primaire, une absence de pilosité axillaire et pubienne et une absence de développement mammaire. À l'exception de l'absence de développement sexuel, le développement physique et intellectuel de tous les patients est normal. Aucun nouveau cas n'a été décrit dans la littérature depuis 1979."},"de":{"name":"Hypogonadotroper Hypogonadismus-frontoparietale Alopezie-Syndrom","synonyms":["Salti-Salem-Syndrom"],"definition":"Eine seltene endokrine Erkrankung, die durch angeborenen hypogonadotropen Hypogonadismus und frontoparietale Alopezie gekennzeichnet ist. Betroffene Männer haben keine Gesichts-, Achsel- und Schambehaarung. Betroffene Frauen weisen eine stärkere Alopezie auf, die bereits in der frühen Kindheit auftritt, sowie eine primäre Amenorrhoe, das Fehlen von Achsel- und Schamhaaren und eine fehlende Brustentwicklung. Abgesehen von der fehlenden sexuellen Entwicklung hatten alle Betroffenen eine normale körperliche und intellektuelle Entwicklung. Seit 1979 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de hipogonadismo hipogonadotrópico-alopecia fronto parietal","synonyms":["Síndrome de Salti-Salem"],"definition":"Es una enfermedad endocrina poco frecuente caracterizada por hipogonadismo hipogonadotrópico congénito y alopecia frontoparietal. Los varones afectos también presentan ausencia de vello facial, axilar y púbico. Las mujeres afectas presentan alopecia más grave, evidente desde la primera infancia, amenorrea primaria, ausencia de vello axilar y púbico, y ausencia de desarrollo mamario. Salvo retraso en el desarrollo sexual, todos los individuos afectados presentaron un desarrollo físico e intelectual normal. No se han descrito más casos en la literatura desde 1979."},"it":{"name":"Ipogonadismo ipogonadotropo - alopecia frontoparietale","synonyms":["Sindrome di Salti-Salem"]},"nl":{"name":"Hypogonadotroop hypogonadisme - frontopariëtale alopecie-syndroom","synonyms":["Syndroom van Salti-Salem"],"definition":"Een zeldzame endocriene aandoening, gekenmerkt door congenitaal hypogonadotroop hypogonadisme en frontopariëtale alopecie. Getroffen mannen vertonen mogelijk ook afwezigheid van gezichtsbeharing, okselhaar en schaamhaar. Getroffen vrouwen vertonen ernstigere alopecie die merkbaar is vanaf de vroege kindertijd, primaire amenorroe, afwezigheid van oksel- en schaamhaar, en gebrek aan ontwikkeling van de borsten. Behalve het falen van de seksuele ontwikkeling vertonen alle getroffen individuen een normale lichamelijke en intellectuele ontwikkeling. Sinds 1979 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de hipogonadismo hipogonadotrópico-alopecia frontoparietal","synonyms":["Síndrome Salti-Salem"],"definition":"Doença endócrina rara caracterizada por hipogonadismo hipogonadotrópico congénito e alopécia frontoparietal. Os homens afetados apresentam também ausência de pelos faciais, axilares e púbicos. As mulheres afetadas apresentam alopécia mais grave, evidente desde a infância, amenorreia primária, ausência de pelos axilares e púbicos e falta de desenvolvimento mamário. Com exceção da falha no desenvolvimento sexual, todos os indivíduos afetados apresentaram um desenvolvimento físico e intelectual normais. Não há mais descrições na literatura desde 1979."},"pl":{"name":"Hipogonadyzm hipergonadotropowy - łysienie czołowo-ciemieniowe","synonyms":["Zespół Salti i Salem"]},"cs":{"name":"Syndrom zahrnující hypogonadotropní hypogonadismus a frontoparietální alopecii","synonyms":["Saltiho-Salemův syndrom","Salti-Salemův syndrom"]},"uk":{"name":"Синдром гіпогонадотропного гіпогонадизму-лобно-тімяної алопеції","synonyms":["Синдром Саллі-Салема"],"definition":"This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia."},"zh":{"name":"低促性腺激素性性腺功能减退-额顶脱发综合征","synonyms":["Salti-Salem 综合征"]},"tr":{"name":"Hipogonadotropik hipogonadizm-frontoparietal alopesi sendromu","synonyms":["Salti-Salem sendromu"]}},"xrefs":[{"source":"ICD-10","code":"E23.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016384","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303079","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"324","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"466617[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_466617[PMID]"}],"phenotypes":null}