{"orpha":2889,"name":"Pili torti","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Twisted hair"],"definition":"Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2889/","orphanet_url":"https://www.orpha.net/en/disease/detail/2889","names":{"fr":{"name":"Pili torti","definition":"Le pili torti est une anomalie de la tige des cheveux caractérisée par des cheveux plats présentant des torsions à intervalles irréguliers. Les cheveux sont normaux à la naissance mais ils s'arrêtent de pousser progressivement et deviennent fragiles. Le pili torti peut se manifester de manière isolée ou être associé à des syndromes tels que la maladie de Menkes ou le syndrome de Bazex."},"de":{"name":"Pili torti","definition":"Pili torti ist eine Anomalie des Haarschaftes: Die Haare sind flach und in unregelmäßigen Intervallen gedreht. Bei Geburt sind die Haare noch normal, hören im Verlauf zunehmend auf zu wachsen und werden brüchig. Pili torti treten entweder isoliert oder assoziiert mit Syndromen (z.B. Menkes-Krankheit oder Bazex-Syndrom (s.diese Termini)) auf."},"es":{"name":"Pili torti","definition":"El pilo torti es una anomalía del tallo del pelo que se caracteriza por un pelo liso que se retuerce a intervalos irregulares. El pelo es normal al nacimiento pero progresivamente deja de crecer a lo largo y se vuelve frágil. El pilo torti puede ser aislado o darse en asociación con otros síndromes como la enfermedad de Menkes o el síndrome de Bazex (consulte estos términos)."},"it":{"name":"Pili torti","definition":"I pili torti sono un'anomalia del fusto pilifero, caratterizzata da capelli piatti che si attorcigliano a intervalli irregolari. I capelli sono normali alla nascita, ma la loro crescita in lunghezza si arresta progressivamente e i capelli diventano fragili. I pili torti possono essere isolati o associarsi ad alcune sindromi, come la malattia di Menkes o la sindrome di Bazex (si vedano questi termini)."},"nl":{"name":"Pili torti","synonyms":["Gedraaid haar"],"definition":"Een afwijking van haarschacht, gekenmerkt door plat haar dat met onregelmatige intervallen gedraaid is. Haar is normaal bij de geboorte, maar stopt progressief met groeien en wordt fragiel. Pili torti kan geïsoleerd optreden, of in associatie met syndromen zoals ziekte van Menkes of syndroom van Bazex."},"pt":{"name":"Pili torti"},"pl":{"name":"Włosy skręcone","synonyms":["Włosy skręcone"]},"cs":{"name":"Pili torti","synonyms":["Nemoc přetáčení vlasů"]},"uk":{"name":"Перекручене волосся","synonyms":["Скручене волосся"],"definition":"Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms)."},"zh":{"name":"卷发","synonyms":["扭发"]},"tr":{"name":"Pili torti","synonyms":["Bükümlü saç"]}},"xrefs":[{"source":"OMIM","code":"261900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC21.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"813238041"},{"source":"MONDO","code":"0009870","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562485","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0263491","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4361","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79366,"name":"Isolated hair shaft abnormality","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010719","label":"Abnormality of hair texture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003777","label":"Pili torti","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001597","label":"Abnormal nail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}