{"orpha":1226,"name":"Bamforth-Lazarus syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Athyroidal hypothyroidism-spiky hair-cleft palate syndrome","Bamforth syndrome","Hypothyroidism-cleft palate syndrome"],"definition":"A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1226/","orphanet_url":"https://www.orpha.net/en/disease/detail/1226","names":{"fr":{"name":"Syndrome de Bamforth-Lazarus","synonyms":["Syndrome d'hypothyroïdie par athyréose-cheveux hérissés-fente palatine","Syndrome d'hypothyroïdie-fente palatine","Syndrome de Bamforth"],"definition":"Hypothyroïdie syndromique congénitale très rare, caractérisée par une dysgénésie thyroïdienne (le plus souvent une athyréose), une fente palatine, des cheveux en épis, avec ou sans atrésie choanale, et une épiglotte bifide. Des cas isolés de dysmorphie faciale et de porencéphalie ont été rapportés."},"de":{"name":"Bamforth-Lazarus-Syndrom","synonyms":["Bamforth-Syndrom","Hypothyreose - Gaumenspalte"],"definition":"Ein sehr seltene Form der kongenitalen syndromalen Hypothyreose, die durch Schilddrüsen-Dysgenesie (in den meisten Fällen Athyreose), Gaumenspalte und abstehendes Haaren, mit oder ohne Choanalatresie und bifider Epiglottis gekennzeichnet ist. Gesichtsdysmorphien und Porenzephalie wurden in Einzelfällen berichtet."},"es":{"name":"Síndrome de Bamforth","synonyms":["Síndrome de Bamforth-Lazarus","Síndrome de hipotiroidismo-paladar hendido"],"definition":"Es un síndrome muy infrecuente de hipotiroidismo congénito caracterizado por disgenesia tiroidea (en la mayoría de los casos atireosis, paladar hendido y cabello puntiagudo, con o sin atresia de coanas y epiglotis bífida. Se ha descrito dismorfia facial y porencefalia en casos aislados."},"it":{"name":"Sindrome di Bamforth-Lazarus","synonyms":["Ipotiroidismo - schisi palatina","Sindrome di Bamforth"],"definition":"È una sindrome molto rara da ipotiroidismo congenito, caratterizzata da disgenesia della tiroide (nella maggior parte dei casi atireosi), palatoschisi e capelli a spazzola, con o senza atresia delle coane, ed epiglottide bifida. In alcuni casi isolati sono stati osservati dismorfismi facciali e porencefalia."},"nl":{"name":"Syndroom van Bamforth-Lazarus","synonyms":["Athyroïdale hypothyreoïdie - stekelig haar - gespleten verhemelte-syndroom","Hypothyreoïdie - gespleten verhemelte-syndroom","Syndroom van Bamforth"],"definition":"Een zeer zeldzaam syndroom van congenitale hypothyreoïdie gekarakteriseerd door dysgenesie van de schildklier (in de meeste gevallen athyreose), gespleten verhemelte en stekelig haar, met of zonder choane atresie, en gespleten epiglottis. Bij geïsoleerde gevallen werden faciale dysmorfie en porencefalie gerapporteerd."},"pt":{"name":"Síndrome Bamforth"},"pl":{"name":"Zespół Bamfortha","synonyms":["Niedoczynność przytarczyc - rozszczep podniebienia","Zespół Bamfortha i Lazarusa"]},"cs":{"name":"Bamforthův-Lazarusův syndrom","synonyms":["Syndrom zahrnující netyreoidální hypotyreózu, naježené vlasy a rozštěp patra","Bamforthův syndrom","Syndrom zahrnující hypotyreózu a rozštěp patra","Bamforth-Lazarusův syndrom"]},"uk":{"name":"Синдром Бамфорта-Лазаруса","synonyms":["Синдром атиреоїдного гіпотиреозу - гострого волосся - розщілини піднебіння","Синдром Бамфорта","Синдром гіпотиреозу - розщілини піднебіння"],"definition":"A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases."},"zh":{"name":"Bamforth-Lazarus综合征","synonyms":["五甲状腺甲状腺功能减退-头发硬直-腭裂综合征"]},"tr":{"name":"Bamforth-Lazarus sendromu","synonyms":["Bamforth sendromu","Hipotiroidi-yarık damak sendromu","Atiroidal hipotiroidi-dikenli saç yarık damak sendromu"]}},"xrefs":[{"source":"OMIM","code":"241850","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E03.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1747690671"},{"source":"MONDO","code":"0009437","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537901","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855794","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"414","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10090559","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":177107,"name":"Syndromic hypothyroidism","classifications":[156,193]}],"children":[],"genes":[{"symbol":"FOXE1","name":"forkhead box E1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"9697705[PMID]_12165566[PMID]_25905381[PMID]","hgnc":"3806","ensembl":"ENSG00000178919","omim":"602617","loci":["9q22.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011362","label":"Abnormal hair quantity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000851","label":"Congenital hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008191","label":"Thyroid agenesis","frequency":"Very frequent (99-80%)","criteria":null}]}}