{"orpha":2885,"name":"Piebald trait-neurologic defects syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Telfer-Sugar-Jaeger syndrome"],"definition":"Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2885/","orphanet_url":"https://www.orpha.net/en/disease/detail/2885","names":{"fr":{"name":"Syndrome de piébaldisme-anomalies neurologiques","synonyms":["Syndrome de Telfer-Sugar-Jaeger"],"definition":"Syndrome d'anomalie génétique de la pigmentation cutanée rare caractérisé par une leucodermie ventrale et dorsale du tronc et une mèche de cheveux blancs congénitale, associée à une ataxie cérébelleuse, des troubles de la coordination motrice, une déficience intellectuelle de sévérité variable et une perte auditive neurosensorielle uni- ou bilatérale, progressive, légère à profonde. Aucun cas n'a été décrit dans la littérature depuis 1971."},"de":{"name":"Piebaldismus - neurologische Anomalien","synonyms":["Telfer-Sugar-Jaeger-Syndrom"]},"es":{"name":"Síndrome de piebaldismo-neuropatías","synonyms":["Síndrome de Telfer-Sugar-Jaeger"],"definition":"Es un síndrome de anomalías de la pigmentación cutánea, genético y poco frecuente, caracterizado por leucodermia troncal, tanto ventral como dorsal y por un mechón congénito de pelo blanco en la frente en asociación con ataxia cerebelosa, alteración de la coordinación motora, discapacidad intelectual de gravedad variable y progresiva, de leve a profunda, así como pérdida auditiva neurosensorial uni- o bilateral. No ha habido más casos descritos en la literatura desde 1971."},"it":{"name":"Piebaldismo - anomalie neurologiche","synonyms":["Sindrome di Telfer-Sugar-Jaeger"],"definition":"La sindrome che associa il piebaldismo e le anomalie neurologiche è un'anomalia genetica rara della pigmentazione della cute, caratterizzata da leucodermia ventrale e dorsale del tronco e da una frezza bianca congenita, associate ad atassia cerebellare, alla compromissione della coordinazione motoria, alla disabilità intellettiva di gravità variabile e alla sordità neurosensoriale progressiva lieve-profonda, mono- o bilaterale. Non sono stati descritti nuovi casi dopo il 1971."},"nl":{"name":"Piebaldisme - neurologische defecten-syndroom","synonyms":["Syndroom van Telfer-Sugar-Jaeger"],"definition":"Piebaldisme - neurologische defecten-syndroom is een zeldzaam, genetisch syndroom met afwijkende pigmentatie van de huid, en wordt gekarakteriseerd door zowel ventrale als dorsale leukodermie van de romp en een congenitaal witte kuif, in associatie met cerebellaire ataxie, verstoorde motorische coördinatie, intellectuele achterstand met variabele ernst en progressief, mild tot volledig, uni- of bilateraal sensorineuraal gehoorverlies. Sinds 1971 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de piebaldismo-anomalias neurológicas","synonyms":["Síndrome Telfer-Sugar-Jaeger"]},"pl":{"name":"Piebaldyzm - defekty neurologiczne","synonyms":["Zespół Telfera, Sugar i Jaegera"]},"cs":{"name":"Syndrom zahrnující piebaldismus a neurologické poruchy","synonyms":["Telferův-Sugarův-Jaegerův syndrom","Telfer-Sugar-Jaegerův syndrom"]},"uk":{"name":"Синдром пєбальдизму-неврологічних дефектів","synonyms":["Синдром Тельфера - Шуга - Ягера"],"definition":"Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971."},"zh":{"name":"花斑秃-神经缺陷综合征","synonyms":["Telfer-Sugar-Jaeger综合征"]},"tr":{"name":"Piebald trait-nörolojik defektler sendromu","synonyms":["Telfer-Sugar-Jaeger sendromu"]}},"xrefs":[{"source":"OMIM","code":"172850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EM0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0008245","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536955","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868311","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5133","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183469,"name":"Genetic hypopigmentation of the skin","classifications":[156]},{"orpha":79376,"name":"Hypopigmentation of the skin","classifications":[187]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"5097904[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_5097904[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000992","label":"Cutaneous photosensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001053","label":"Hypopigmented skin patches","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001029","label":"Poikiloderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012733","label":"Macule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Occasional (29-5%)","criteria":null}]}}