{"orpha":2109,"name":"Severe Hallermann-Streiff syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Hallermann-Streiff-François syndrome, severe form","Severe Hallermann-Streiff-François syndrome","Dennis-Fairhurst-Moore syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hallermann-Streiff syndrome","url":"https://raremap.alftech.space/d/ORPHA-2109/","orphanet_url":"https://www.orpha.net/en/disease/detail/2109","names":{"fr":{"name":"Syndrome de Hallermann-Streiff, forme sévère","synonyms":["Syndrome de Dennis-Fairhurst-Moore","Syndrome de Hallermann-Streiff-François, forme sévère"]},"de":{"name":"Hallermann-Streiff-ähnliches Syndrom","synonyms":["Dennis-Fairhurst-Moore-Syndrom","Hallermann-Streiff-François-Syndrom, schwere Form"]},"es":{"name":"Síndrome de Hallermann-Streiff grave","synonyms":["Síndrome de Hallermann-Streiff-François grave","Síndrome de Dennis-Fairhurst-Moore","Síndrome de Hallermann-Streiff-François, forma grave"]},"it":{"name":"Sindrome di Hallermann-Streiff grave","synonyms":["Sindrome Hallerman-Streiff-simile","Sindrome di Dennis-Fairhurst-Moore","Sindrome di Hallermann-Streiff-François grave","Sindrome di Hallermann-Streiff-François, forma grave"]},"nl":{"name":"Ernstig syndroom van Hallermann-Streiff","synonyms":["Ernstig syndroom van Hallermann-Streiff-François","Syndroom van Dennis-Fairhurst-Moore","Syndroom van Hallermann-Streiff-François, ernstige vorm"]},"pt":{"name":"Síndrome Hallermam-Streiff-<i>like","synonyms":["Síndrome de Dennis-Fairhurst-Moore","Síndrome de Hallermann-Streiff-François grave"]},"pl":{"name":"Zespół podobny do zespołu Hallermanna i Streiffa","synonyms":["Ciężka postać zespołu Hallermanna, Streiffa i Françoisa","Zespół Dennisa, Fairhursta i Moore'a","Zespoł Hallermanna, Streiffa i Françoisa, postać ciężka","Zespoł Hallermanna, Streiffa i Françoisa, postać ciężka","Zespół podobny do zespołu Hallermana i Streiffa"]},"cs":{"name":"Syndrom podobný Hallermannovu-Streiffovu syndromu","synonyms":["Dennisův-Fairhurstův-Mooreho syndrom","Hallermannův-Streiffův-Françoisův syndrom, těžká forma","Těžký Hallermannův-Streiffův-Françoisův syndrom","Syndrom podobný Hallermann-Streiffovu syndromu","Dennis-Fairhurst-Mooreho syndrom","Hallermann-Streiff-Françoisův syndrom, těžká forma","Těžký Hallermann-Streiff-Françoisův syndrom"]},"uk":{"name":"Синдром Галлерман-Штрайф-подібний","synonyms":["Синдром Денніса-Фейрхерста-Мура","Синдром Галлермана-Штрайффа-Франсуа, важка форма","Тяжкий синдром Галлерманна-Штрайффа-Франсуа"],"definition":"A rare genetic bone development disorder characterized by multiple congenital fractures, slender ribs and long bones, deficient ossification of the skull, and dysmorphic facial features reminiscent of Hallermann-Streiff syndrome (such as high forehead and triangular face with small jaw, deep-set eyes, beaked, narrow nose, downturned mouth, and posteriorly angulated ears). Bilateral microphthalmia, cataracts, and pulmonary hypoplasia have also been reported. The disease is fatal in the neonatal period. There have been no further descriptions in the literature since 1995."},"zh":{"name":"类Hallermann-Streiff综合征","synonyms":["Hallermann-Streiff-François综合征严重型"]},"tr":{"name":"Hallermann-Streiff benzeri sendrom","synonyms":["Dennis-Fairhurst-Moore sendromu","Ağır Hallermann-Streiff-François sendromu","Hallermann-Streiff-François sendromu, ağır form"]}},"xrefs":[{"source":"MONDO","code":"0022851","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538210","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931775","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":2108,"name":"Hallermann-Streiff syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}