{"orpha":1808,"name":"Hidrotic ectodermal dysplasia, Christianson-Fourie type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Christianson-Fourie syndrome"],"definition":"Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1808/","orphanet_url":"https://www.orpha.net/en/disease/detail/1808","names":{"fr":{"name":"Dysplasie ectodermique hidrotique type Christianson-Fourie","synonyms":["Syndrome de Christianson-Fourie"],"definition":"Syndrome de dysplasie ectodermique caractérisé par une trichodysplasie et une onychodysplasie associées à des anomalies du rythme cardiaque. Sur le plan clinique, on observe des cheveux et des cils clairsemés, des sourcils absents ou clairsemés, des ongles dystrophiques et épaissis (l'extrémité distale des ongles des doigts peut être séparée du lit de l'ongle) et une tachycardie supraventriculaire ou une bradycardie sinusale."},"de":{"name":"Dysplasie, ektodermale hidrotische, Typ Christianson-Fourie","synonyms":["Christianson-Fourie-Syndrom"]},"es":{"name":"Displasia ectodérmica hidrótica tipo Christianson-Fourie","synonyms":["Síndrome de Christianson-Fourie"],"definition":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por trico- y onicodisplasia asociado a anomalías del ritmo cardíaco. Los afectados presentan pelo escaso en pestañas y cuero cabelludo, cejas ausentes o escasas, uñas distróficas engrosadas (en los los dedos de la mano, se puede levantar el extremo distal del lecho ungueal) y taquicardia supraventricular o bradicardia sinusal."},"it":{"name":"Displasia ectodermica idrotica, tipo Christianson-Fourie","synonyms":["Sindrome di Christianson-Fourie"],"definition":"La displasia ectodermica idrotica tipo Christianson-Fourie è una displasia ectodermica rara, caratterizzata da trico- ed onicodisplasia, associate ad aritmie. I pazienti presentano capelli e ciglia rade, sopracciglia assenti o rade, unghie distrofiche ed ispessite (sulle estremità distali delle dita possono essere sollevate rispetto al letto ungueale) e tachicardia sopraventricolare o bradicardia sinusale."},"nl":{"name":"Hidrotische ectodermale dysplasie, Christianson-Fourie-type","synonyms":["Syndroom van Christianson-Fourie"],"definition":"Hidrotische ectodermale dysplasie, Christianson-Fourie-type, is een zeldzaam ectodermale dysplasiesyndroom dat gekarakteriseerd wordt door tricho- en onychodysplasie geassocieerd met hartritmestoornissen. Patiënten vertonen schaarsheid van hoofdhaar en wimpers, afwezige of schaarse wenkbrauwen, dystrofische verdikte nagels (aan de vingers kan het distale uiteinde verheven zijn boven het nagelbed) en supraventriculaire tachycardie of sinusbradycardie."},"pt":{"name":"Displasia ectodérmica hidrótica, tipo Christianson-Fourie","synonyms":["Síndrome Christianson-Fourie"]},"pl":{"name":"Hydrotyczna dysplazja ektodermalna typu Christianson i Fourie","synonyms":["Zespół Christianson i Fourie"],"definition":"*Hydrotyczna dysplazja ektodermalna typu Christianson i Fourie jest rzadką dysplazją ektodermalną, która charakteryzuje się dysplazja włosów i paznokci, z towarzyszącymi zaburzeniami rytmu serca. Klinicznie obserwuje się rzadkie włosy i rzęsy, brak lub rzadkie brwi, dystroficzne i pogrubiałe paznokcie (dystalny ich koniec na palcach może być oddzielony od łożyska paznokcia) oraz częstoskurcz nadkomorowy lub bradykardię zatokową."},"cs":{"name":"Hidrotická ektodermální dysplázie, typ Christiansona-Fourieho","synonyms":["Christiansonův-Fourieho syndrom","Hidrotická ektodermální dysplázie, typ Christianson-Fourieho","Christianson-Fourieho syndrom"]},"uk":{"name":"Гідротична ектодермальна дисплазія, тип Крістіансона-Фурє","synonyms":["Синдром Крістіансона-Фурє"],"definition":"Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia."},"zh":{"name":"有汗型外胚层发育不良，Christianson-Fourie型","synonyms":["Christianson-Fourie综合征"]},"tr":{"name":"Hidrotik ektodermal displazi, Christianson-Fourie tipi","synonyms":["Christianson-Fourie sendromu"]}},"xrefs":[{"source":"OMIM","code":"601375","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"661397711"},{"source":"MONDO","code":"0011063","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536180","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832411","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2682","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"8826433[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8826433[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008401","label":"Onychogryposis of toenails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002215","label":"Sparse axillary hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002225","label":"Sparse pubic hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null}]}}