{"orpha":2891,"name":"Pili torti-developmental delay-neurological abnormalities syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2891/","orphanet_url":"https://www.orpha.net/en/disease/detail/2891","names":{"fr":{"name":"Syndrome de pili torti-retard de développement-anomalies neurologiques","definition":"Le syndrome de pili torti-retard de développement-anomalies neurologiques est caractérisé par un retard de croissance et de développement, des anomalies neurologiques légères à modérées, et un pili torti. Il a été décrit chez un garçon et sa soeur nés de parents portoricains consanguins."},"de":{"name":"Pili torti-Entwicklungsverzögerung-neurologische Anomalien-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet verzögertes Wachstum, verlangsamte Entwicklung, leichte bis mäßige neurologische Anomalien und Pili torti. Es wurde bei Bruder und Schwester mit konsanguinen puertoricanischen Eltern beschrieben."},"es":{"name":"Síndrome de pili torti-retraso del desarrollo-anomalías neurológicas","definition":"Es un síndrome caracterizado por retraso del crecimiento y del desarrollo, anomalías neurológicas de leves a moderadas y pili torti. Se ha descrito en un hermano y hermana nacidos de padres puertorriqueños consanguíneos."},"it":{"name":"Pili torti - ritardo dello sviluppo - anomalie neurologiche"},"nl":{"name":"Pili torti - ontwikkelingsachterstand - neurologische anomalieën-syndroom","definition":"Een syndroom, gekenmerkt door groei- en ontwikkelingsachterstand, milde tot matige neurologische afwijkingen, en pili torti. Het werd beschreven bij een broer en zijn zus met bloedverwante Puerto-Ricaanse ouders."},"pt":{"name":"Pili torti-atraso do desenvolvimento-anomalias neurológicas"},"pl":{"name":"Włosy skręcone - opóźnienie w rozwoju - nieprawidłowości neurologiczne"},"cs":{"name":"Syndrom zahrnující pili torti, opoždění vývoje a neurologické abnormality"},"uk":{"name":"Синдром перекрученого волосся-затримки розвитку-неврологічних порушень","definition":"Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents."},"zh":{"name":"卷发-发育迟缓-神经系统异常综合征"},"tr":{"name":"Pili torti-gelişme geriliği-nörolojik anormallikler sendromu"}},"xrefs":[{"source":"OMIM","code":"261990","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC21.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0009871","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537398","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274783","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4362","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79367,"name":"Syndromic hair shaft abnormality","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1379303[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1379303[PMID]"}],"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:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003777","label":"Pili torti","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200102","label":"Sparse or absent eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null}]}}