{"orpha":2218,"name":"Cervical hypertrichosis-peripheral neuropathy syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2218/","orphanet_url":"https://www.orpha.net/en/disease/detail/2218","names":{"fr":{"name":"Syndrome d'hypertrichose cervicale-neuropathie périphérique","definition":"Syndrome rare caractérisé par l'association d'une hypertrichose congénitale dans la région cervicale antérieure et d'une neuropathie sensitivo-motrice périphérique. Les caractéristiques associées dans les cas familiaux incluent des anomalies de la rétine, une spina bifida, une cyphoscoliose et un hallux valgus, tandis qu'elles incluent un retard de développement dans le cas non familial. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1993."},"de":{"name":"Hypertrichose der Hals-Vorderseite - periphere Neuropathie","definition":"Dieses Syndrom ist gekennzeichnet durch das gemeinsame Auftreten einer angeborenen Hypertrichose der Hals-Vorderseite mit peripherer sensorischer und motorischer Neuropathie . Weitere Merkmale können Netzhautanomalien, Spina bifida, Kyphoskoliose und Hallux valgus sowie Entwicklungsverzögerung (ein Fall) umfassen. Seit 1993 gibt es in der Literatur keine weiteren Beschreibungen."},"es":{"name":"Síndrome de hipertricosis cervical-neuropatía periférica","definition":"Es un síndrome poco frecuente de origen genético caracterizado por la asociación de hipertricosis congénita en la región cervical anterior con neuropatía sensitivo-motora periférica. Las características asociadas pueden incluir anomalías retinianas, espina bífida, cifoescoliosis y hallux valgus, así como retraso del desarrollo (en un caso). No ha habido más descripciones en la literatura desde 1993."},"it":{"name":"Ipertricosi cervicale - neuropatia periferica"},"nl":{"name":"Cervicale hypertrichose - perifere neuropathie-syndroom","definition":"Een zeldzaam, genetisch syndroom, gekenmerkt door de associatie van congenitale hypertrichose in voorste cervicale regio met perifere sensorische en motorische neuropathie. Mogelijke geassocieerde kenmerken zijn onder meer anomalieën van netvlies, spina bifida (open rug), kyfoscoliose en hallux valgus, en ontwikkelingsachterstand (één geval). Sinds 1993 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de hipertricose cervical-neuropatia periférica"},"pl":{"name":"Hipertrichoza szyjna - neuropatia obwodowa","definition":"Rzadki zespół genetyczny charakteryzujący się współwystępowaniem wrodzonego nadmiernego owłosienia w przednim odcinku szyjnym z obwodową neuropatią czuciowo-ruchową. Powiązane cechy mogą obejmować wady siatkówki, rozszczep kręgosłupa, kifoskoliozę i koślawość paluchów oraz opóźnienie rozwoju (jeden przypadek). Od 1993 roku nie było dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující cervikální hypertrichózu a periferní neuropatii"},"uk":{"name":"Синдром гіпертрихозу шийки матки - периферичної нейропатії","definition":"A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993."},"zh":{"name":"颈部多毛-周围神经病变综合征"},"tr":{"name":"Servikal hipertrikoz-periferik nöropati sendromu"}},"xrefs":[{"source":"OMIM","code":"239840","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"116588724"},{"source":"MONDO","code":"0009405","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303793","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1226","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269570,"name":"Genetic syndrome with a Dandy-Walker malformation as a major feature","classifications":[156]},{"orpha":79365,"name":"Rare disorder with hypertrichosis","classifications":[156,187]},{"orpha":269546,"name":"Syndrome with a Dandy-Walker malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"1666396[PMID]_8281287[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1666396[PMID]_8281287[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-28","source":null,"terms":[{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040165","label":"Periostitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Frequent (79-30%)","criteria":null}]}}