{"orpha":1563,"name":"Dahlberg-Borer-Newcomer syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Dahlberg syndrome","Lymphedema-hypoparathyroidism syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hypertrichoses, and nail abnormalities. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1563/","orphanet_url":"https://www.orpha.net/en/disease/detail/1563","names":{"fr":{"name":"Syndrome de Dahlberg-Borer-Newcomer","synonyms":["Syndrome de Dahlberg","Syndrome de lymphoedème-hypoparathyroïdie"],"definition":"Le syndrome de Dahlberg-Borer-Newcomer est un syndrome dysplasique ectodermique très rare décrit chez deux frères adultes, et caractérisé par l'association d'une hypoparathyroïdie, une néphropathie, un lymphoedème congénital, un prolapsus de la valve mitrale et une brachytéléphalangie. Les caractéristiques additionnelles incluent une dysmorphie faciale légère, une hypertrichose et des anomalies unguéales."},"de":{"name":"Dahlberg-Borer-Newcomer-Syndrom","synonyms":["Dahlberg-Syndrom","Lymphödem mit Hypoparathyreoidismus"],"definition":"Ein seltenes Syndrom multipler kongenitaler Anomalien/Dysmorphien, das durch eine Kombination von kongenitalem Hypoparathyreoidismus, Nephropathie, kongenitalem Lymphödem, Mitralklappenprolaps und Brachytelephalangie gekennzeichnet ist. Weitere Merkmale sind leichte Gesichtsdysmorphien, Hyperthrikosen und Nagelanomalien. Seit 1993 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de Dahlberg-Borer-Newcomer","synonyms":["Síndrome de Dahlberg","Síndrome de linfedema-hipoparatiroidismo"],"definition":"Es un síndrome dismórfico / de anomalías congénitas múltiples poco frecuente que se caracteriza por la asociación de hipoparatiroidismo congénito, nefropatía, linfedema congénito, prolapso de la válvula mitral y braquitelefalangia. Otras características adicionales incluyen dismorfia facial leve, hipertricosis y anomalías en las uñas. No ha habido más descripciones en la literatura desde 1993."},"it":{"name":"Sindrome di Dahlberg-Borer-Newcomer","synonyms":["Sindrome di Dahlberg","Sindrome linfedema-ipoparatiroidismo"],"definition":"La sindrome di Dahlberg-Borer-Newcomer è una sindrome rara da displasia ectodermica, descritta in due fratelli adulti, caratterizzata dall'associazione tra ipoparatiroidismo, nefropatia, linfedema congenito, prolasso della valvola mitrale e brachitelefalangia. Ulteriori segni sono i dismorfismi facciali lievi, l'ipertricosi e le anomalie del naso."},"nl":{"name":"Syndroom van Dahlberg-Borer-Newcomer","synonyms":["Lymfoedeem - hypoparathyreoïdie-syndroom","Syndroom van Dahlberg"],"definition":"Een zeldzaam meervoudige congenitale anomalieën/dysmorfie-syndroom, gekarakteriseerd door de associatie van congenitale hypoparathyreoïdie, nefropathie, congenitaal lymfoedeem, mitralisklepprolaps, en brachytelefalangie. Bijkomende kenmerken zijn onder meer milde faciale dysmorfie, hypertrichose, en nagelanomalieën. Sinds 1993 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Dahlberg-Borer-Newcomer","synonyms":["Síndrome de linfedema-hipoparatiroidismo"]},"pl":{"name":"Zespół Dahlberga, Borera i Ncomera","synonyms":["Zespół Dahlberga","Zespół obrzęk limfatyczny - niedoczynność przytarczyc"]},"cs":{"name":"Dahlbergův-Borerův-Newcomerův syndrom","synonyms":["Syndrom zahrnující lymfedém a hypoparatyreózu","Dahlbergův syndrom","Dahlberg-Borer-Newcomerův syndrom"]},"uk":{"name":"Синдром Дальберга-Борера-Ньюкомера","synonyms":["Синдром Дальберга","Синдром лімфедеми-гіпопаратиреозу"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of congenital hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities. There have been no further descriptions in the literature since 1993."},"zh":{"name":"Dahlberg-Borer-Newcomer综合征","synonyms":["淋巴水肿-甲状旁腺功能减退综合征"]},"tr":{"name":"Dahlberg-Borer-Newcomer sendromu","synonyms":["Dahlberg sendromu","Lenfödem-hipoparatiroidi sendromu"]}},"xrefs":[{"source":"OMIM","code":"247410","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1407652122"},{"source":"MONDO","code":"0009533","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535769","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855477","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"237","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":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":568044,"name":"Primary lymphedema with systemic or visceral involvement","classifications":[147,156,187,198]},{"orpha":181402,"name":"Syndrome with hypoparathyroidism","classifications":[156,193]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"6638075[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6638075[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001798","label":"Anonychia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002901","label":"Hypocalcemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}