{"orpha":1658,"name":"Absence of fingerprints-congenital milia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Absence of dermatoglyphics-congenital milia syndrome","Baird syndrome","Basan-Baird syndrome"],"definition":"A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1658/","orphanet_url":"https://www.orpha.net/en/disease/detail/1658","names":{"fr":{"name":"Syndrome d'absence de dermatoglyphes-miliaire congénital","synonyms":["Syndrome de Baird","Syndrome de Basan-Baird"],"definition":"Le syndrome d'absence de dermatoglyphes-miliaire congénital est caractérisé par des ampoules et des grains de milium (petites papules blanches, surtout sur le visage) et par l'absence congénitale de dermatoglyphes sur les mains et les pieds. Ce syndrome a été rapporté chez deux familles (dont l'une comportait 13 personnes atteintes sur 3 générations) et chez un individu non apparenté. Certains des patients atteints présentaient également une camptodactylie des doigts et des orteils et une syndactylie des orteils. Le mode de transmission est autosomique dominant."},"de":{"name":"Fehlende Dermatoglyphen-kongenitale Milien-Syndrom","synonyms":["Baird-Syndrom"],"definition":"Ein seltenes Syndrom, das durch Blasen und Milien (kleine weiße Papeln, insbesondere im Gesicht) bei Neugeborenen und das angeborene Fehlen von Dermatoglyphen an Händen und Füßen gekennzeichnet ist. Es wurde bei zwei Familien (eine davon mit 13 betroffenen Personen in drei Generationen) und bei einer nicht verwandten Person festgestellt. Einige betroffene Patienten zeigten auch beidseitige partielle Beugekontrakturen der Finger und Zehen sowie Schwimmhäute zwischen den Zehen. Das Syndrom wird autosomal-dominant vererbt."},"es":{"name":"Síndrome de ausencia de dermatoglifos-miliar congénita","definition":"Es un síndrome poco frecuente caracterizado por ampollas y erupción miliar neonatal (pápulas blancas pequeñas, especialmente en la cara) y ausencia congénita de dermatoglifos en manos y pies. Se ha descrito en dos familias (una de ellas con 13 individuos afectados de tres generaciones diferentes) y en un individuo no emparentado. Algunos pacientes presentaban también contracturas en flexión parciales bilaterales de los dedos de manos y pies, y sindactilia de los dedos de los pies. El síndrome se hereda con carácter autosómico dominante."},"it":{"name":"Assenza delle impronte digitali - milia congenita","synonyms":["Assenza dei dermatoglifi - milia congenita","Sindrome di Baird"]},"nl":{"name":"Afwezigheid van dermatoglyfen - congenitale milia-syndroom","synonyms":["Syndroom van Basan-Baird","Afwezigheid van vingerafdrukken - aangeboren gerstekorrels-syndroom","Syndroom van Baird"],"definition":"Een zeldzaam syndroom gekarakteriseerd door neonatale blaren en milia (kleine, witte papels, vooral op het aangezicht) en congenitale afwezigheid van dermatoglyfen op handen en voeten. Het werd gerapporteerd bij twee families (waarvan één met 13 getroffen individuen over drie generaties) en bij een niet-verwant individu. Sommige getroffen patiënten vertoonden ook bilaterale partiële flexiecontracturen van vingers en tenen, en syndactylie van tenen. Het syndroom wordt overgeërfd als een autosomaal dominante eigenschap."},"pt":{"name":"Síndrome de ausência de impressões digitais-milia congénita","synonyms":["Ausência de dermatoglifos-milia congénita","Síndrome Baird"]},"pl":{"name":"Brak odcisków palców - prosaki wrodzone","synonyms":["Brak dermatoglifów - prosaki wrodzone","Zespół Bairda"]},"cs":{"name":"Syndrom zahrnující absenci dermatoglyfů a vrozená mília","synonyms":["Syndrom zahrnující absenci otisků prstů a vrozená mília","Bairdův syndrom"]},"uk":{"name":"Синдром відсутності відбитків пальців - вроджених мілій","synonyms":["Відсутність дерматогліфічного синдрому - вродженої мілії","Синдром Берда","Синдром Басана-Бейрда"],"definition":"A rare syndrome characterized by neonatal blisters and milia (small white papules, especially on the face) and congenital absence of dermatoglyphics on the hands and feet. It has been reported in two kindreds (one of which contained 13 affected individuals spanning three generations) and in an unrelated individual. Some affected patients also showed bilateral partial flexion contractures of the fingers and toes, and webbing of the toes. The syndrome is inherited as an autosomal dominant trait."},"zh":{"name":"指纹缺失-先天性粟粒疹综合征","synonyms":["指纹缺失-先天性粟粒疹综合征"]},"tr":{"name":"Parmak izi yokluğu-Doğumsal milia sendromu","synonyms":["Baird sendromu","Basan-Baird sendromu","Dermatoglifik-doğumsal milia sendromunun yokluğu"]}},"xrefs":[{"source":"OMIM","code":"129200","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":"1298640608"},{"source":"MONDO","code":"0007507","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304581","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2336","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1235,"name":"OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]},{"orpha":79360,"name":"Other genetic epidermal disease","classifications":[156]}],"children":[],"genes":[{"symbol":"SMARCAD1","name":"SNF2 related chromatin remodeling ATPase with DExD box 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26932190[PMID]","hgnc":"18398","ensembl":"ENSG00000163104","omim":"612761","loci":["4q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"26932190[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26932190[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008066","label":"Abnormal blistering of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009775","label":"Amniotic constriction ring","frequency":"Occasional (29-5%)","criteria":null}]}}