{"orpha":2475,"name":"White forelock with malformations","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2475/","orphanet_url":"https://www.orpha.net/en/disease/detail/2475","names":{"fr":{"name":"Syndrome de mèches blanches-anomalies multiples","definition":"Le syndrome de mèches blanches-anomalies multiples est un syndrome présentant de multiples anomalies congénitales caractérisé par une poliose, une dysmorphie faciale (plis épicanthiques, hypertélorisme, rotation postérieure des oreilles, philtrum proéminent, palais ogival), ainsi que des anomalies/malformations congénitales des yeux (sclère bleue) et des systèmes cardiopulmonaire (communication interatriale, veines thoraciques et abdominales proéminentes) et squelettique (clinodactylie, syndactylie des doigts, et des deuxièmes et troisièmes orteils). Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1980."},"de":{"name":"Weiße Stirnlocke mit multiplen Fehlbildungen","definition":"Weiße Stirnlocke mit Fehlbildungen ist ein Syndrom mit multiplen angeborenen Anomalien, das durch Poliosis, ausgeprägte Gesichtsmerkmale (Epikanthusfalten, Hypertelorismus, hintere Rotation der Ohren, prominentes Philtrum, hochgewölbter Gaumen) und kongenitale Anomalien/Fehlbildungen des Auges (blaue Sklera), des kardiopulmonalen (Vorhofseptumdefekt, prominente Thorax- und Bauchvenen) und des Skelettsystems (Klinodaktylie, Syndaktylie der Finger und 2. und 3. Zehe) gekennzeichnet ist. Seit 1980 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Mechón blanco con malformaciones","definition":"El mechón blanco con malformaciones es un síndrome de anomalías congénitas múltiples caracterizado por poliosis, características faciales distintivas (pliegues epicánticos, hipertelorismo, rotación posterior de las orejas, surco nasolabial prominente, paladar alto y arqueado) y anomalías/malformaciones oculares (esclerótica azul), cardiopulmonares (defecto del tabique interauricular, venas torácicas y abdominales prominentes) y del sistema esquelético (clinodactilia, sindactilia de los dedos de las manos y 2do y 3er dedos de los pies) congénitas. No ha habido descripciones adicionales en la literatura desde 1980."},"it":{"name":"Ciocche di capelli bianchi - malformazioni","definition":"L'associazione tra frezza bianca e malformazioni multiple congenite è una sindrome da anomalie congenite multiple caratterizzata da poliosi, dismorfismi facciali caratteristici (epicanto, ipertelorismo, orecchie ruotate posteriormente, filtro prominente, palato ogivale) e anomalie/malformazioni congenite degli occhi (sclere blu), del sistema cardio-polmonare (difetto del setto atriale, prominenza delle vene toraciche e addominali) e dello scheletro (clinodattilia, sindattilia delle dita delle mani e del secondo e terzo dito del piede). Non sono stati descritti nuovi casi dopo il 1980."},"nl":{"name":"Witte voorhoofdslok met misvormingen","definition":"Witte voorhoofdslok met misvormingen is een syndroom met meervoudige congenitale anomalieën dat gekarakteriseerd wordt door poliose, typische gelaatskenmerken (amandelogen, hypertelorisme, posterieure rotatie van de oren, prominent filtrum, hoog gebogen verhemelte) en congenitale anomalieën/malformaties van het oog (blauw oogwit), het cardiopulmonale systeem (atriumseptumdefect, prominente thoracale en abdominale aders), en het skelet (clinodactylie, syndactylie van de vingers en 2de en 3de tenen). Sinds 1980 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Madeixa branca com malformações"},"pl":{"name":"Biała grzywka z wadami wrodzonymi"},"cs":{"name":"Bílý pramen vlasů nad čelem s malformacemi"},"uk":{"name":"Білий чуб з вадами розвитку","definition":"White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980."},"zh":{"name":"白色额发伴畸形"},"tr":{"name":"Malformasyonların eşlik ettiği beyaz perçem"}},"xrefs":[{"source":"OMIM","code":"277740","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010199","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536700","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848463","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10081","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":519296,"name":"Rare disorder with pigmented sclera","classifications":[156,189]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7398117[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7398117[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002211","label":"White forelock","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null}]}}