{"orpha":1809,"name":"Hidrotic ectodermal dysplasia, Halal type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Halal-Setton-Wang syndrome","Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome"],"definition":"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1809/","orphanet_url":"https://www.orpha.net/en/disease/detail/1809","names":{"fr":{"name":"Dysplasie ectodermique hidrotique type Halal","synonyms":["Syndrome de Halal-Setton-Wang"],"definition":"La dysplasie ectodermique hydrotique type Halal est une forme de dysplasie ectodermique caractérisée par une trichodysplasie avec une absence de sourcils et de cils, une onychodysplasie, une légère rétrognathie, une anomalie des dermatoglyphes (excès de spires au bout des doigts, boucle radiale sur le doigt, schéma hypothénarien) et un déficit intellectuel. La dentition et le processus de sudation sont normaux. Des manifestations additionnelles variables incluent des oreilles hautes implantées ou proéminentes, une légère surdité, des tétons surnuméraires, des taches café-au-lait, une kératose pilaire et des menstruations irrégulières. A ce jour, quatre individus ont été décrits dans la littérature, issus de deux générations d'une famille portugaise consanguine. Les hommes et les femmes sont affectés de la même manière. La dysplasie ectodermique hydrotique type Halal se transmet selon un mode autosomique récessif."},"de":{"name":"Dysplasie, ektodermale hidrotische, Typ Halal","synonyms":["Halal-Setton-Wang-Syndrom","Trichodysplasie-abnorme Dermatoglyphen-Intelligenzminderung-Syndrom"]},"es":{"name":"Displasia ectodérmica hidrótica tipo Halal","synonyms":["Síndrome de Halal-Setton-Wang","Síndrome de tricodisplasia-dermatoglifos anómalos-discapacidad intelectual"],"definition":"Es una forma de síndrome de displasia ectodérmica caracterizada por tricodisplasia, con ausencia de cejas y pestañas, onicodisplasia, retrognatia leve, dermatoglifos anómalos (exceso de verticilos en las yemas de los dedos, asa radial en los dedos, patrón hipotenar) , discapacidad intelectual y dientes normales y sudoración. Otras manifestaciones variables adicionales incluyen orejas prominentes o de implantación alta, hipoacusia leve, pezones supernumerarios, manchas café con leche, queratosis pilar y menstruaciones irregulares. Hasta la fecha, se han descrito en la literatura cuatro individuos de 2 generaciones de una familia consanguínea de ascendencia portuguesa. Afecta por igual a personas de ambos sexos. El trastorno se hereda de forma autosómica recesiva."},"it":{"name":"Displasia ectodermica idrotica, tipo Halal","synonyms":["Sindrome tricodisplasia-anomalie dei dermatoglifi-disabilità intellettiva","Sindrome di Halal-Setton-Wang"]},"nl":{"name":"Hidrotische ectodermale dysplasie, Halal-type","synonyms":["Syndroom van Halal-Setton-Wang","Trichodysplasie - abnormale dermatoglyfen - intellectuele achterstand-syndroom"],"definition":"Hidrotische ectodermale dysplasie, Halal-type, is een vorm van ectodermale dysplasiesyndroom (zie deze term) gekenmerkt door trichodysplasie met afwezige wenkbrauwen en wimpers, onychodysplasie, milde retrognathie, abnormale dermatoglyfen (overmaat aan windingen op de vingertoppen, radiale lus op de vinger, hypothenar patroon), verstandelijke handicap en normale tanden en zweten. Aanvullende variabele manifestaties omvatten hoog ingeplante of prominente oren, mild gehoorverlies, overtollige tepel, 'koffie-met-melk'- vlekken, keratose pilaris en onregelmatige menstruatie. Tot op heden zijn er in de literatuur vier individuen beschreven afkomstig van 2 generaties van een bloedverwante familie van Portugese afkomst. Mannen en vrouwen werden in gelijke mate getroffen. Hidrotische ectodermale dysplasie, Halal-type, wordt op autosomaal recessieve manier overgeërfd."},"pt":{"name":"Displasia ectodérmica hidrótica, tipo Halal","synonyms":["Síndrome Halal-Setton-Wang","Síndrome de tricodisplasia-dermatoglifia anómala-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Hydrotyczna dysplazja ektodermalna typu Halal","synonyms":["Zespół Halal, Setton i Wanga"]},"cs":{"name":"Hidrotická ektodermální dysplázie, Halalův typ","synonyms":["Ektodermální dysplázie s anomáliemi kůže a mentální retardací","Halalův-Settonův-Wangův syndrom","Halal-Setton-Wangův syndrom"]},"uk":{"name":"Гідротична ектодермальна дисплазія, тип Халяль","synonyms":["Синдром Халал-Сеттон-Ванга","Синдром триходисплазії - аномальної дерматогліфіки - інтелектуальної недостатності"],"definition":"Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome (see this term) characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner."},"zh":{"name":"有汗型外胚层发育不良，Halal型","synonyms":["毛发发育不全-皮纹异常-智力障碍综合征"]},"tr":{"name":"Hidrotik ektodermal displazi, Helal tip","synonyms":["Helal-Setton-Wang sendromu","Trikodisplazi-anormal dermatoglifikler-zihinsel yetersizlik sendromu"]}},"xrefs":[{"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":"1668450131"},{"source":"MONDO","code":"0015883","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535621","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930953","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"280","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"2063897[PMID]"},{"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:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000561","label":"Absent eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002164","label":"Nail dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002552","label":"Trichodysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007502","label":"Follicular hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000858","label":"Irregular menstruation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}