{"orpha":1116,"name":"Aplasia cutis congenita-intestinal lymphangiectasia syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Bronspiegel-Zelnick syndrome"],"definition":"An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1116/","orphanet_url":"https://www.orpha.net/en/disease/detail/1116","names":{"fr":{"name":"Syndrome d'aplasie cutanée congénitale-lymphangiectasie intestinale","synonyms":["Syndrome de Bronspiegel-Zelnick"],"definition":"Un syndrome extrêmement rare d'association, décrit chez seulement deux frères à ce jour (la maladie ayant été fatale pour l'un des deux à l'âge de deux mois de vie), caractérisé par une aplasie cutis congénita du vertex, et un oedème généralisé (ainsi qu'une hypoprotéinémie et une lymphopénie) causé par un lymphangiectasie intestinale. Il n'y a pas eu de description ultérieure dans la littérature depuis 1985."},"de":{"name":"Aplasia cutis congenita mit intestinaler Lymphangiektasie","synonyms":["Bronspiegel-Zelnick-Syndrom"]},"es":{"name":"Síndrome de aplasia cutis congénita-linfangiectasia intestinal","synonyms":["Síndrome de Bronspiegel-Zelnick"],"definition":"Este síndrome representa una asociación muy poco frecuente descrita hasta la fecha en sólo dos hermanos (uno de los cuales falleció a los 2 meses de edad), caracterizado por aplasia cutánea congénita craneal y edema generalizado (junto con hipoproteinemia y linfopenia) secundario a una linfangiectasia intestinal. Desde 1985 no se han descrito nuevos casos en la literatura."},"it":{"name":"Aplasia cutanea congenita - linfangectasia intestinale","synonyms":["Aplasia cutanea congenita autosomica recessiva","Sindrome di Bronspiegel-Zelnick"],"definition":"L'aplasia cutanea congenita associata a linfangectasia intestinale è una malattia molto rara, descritta solo in due fratelli (uno dei quali deceduto all'età di due mesi). È caratterizzata da aplasia cutis congenita del vertice ed edema generalizzato, ipoproteinemia e linfopenia, secondari alla linfangectasia intestinale. Non sono stati descritti nuovi casi dopo il 1985."},"nl":{"name":"Aplasia cutis congenita - intestinale lymfangiëctasie-syndroom","synonyms":["Syndroom van Bronspiegel-Zelnick"],"definition":"Een uiterst zeldzaam associatiesyndroom dat tot op heden in slechts twee broers (waarvan één stierf op de leeftijd van twee maanden) werd beschreven, en dat gekarakteriseerd wordt door aplasia cutis congenita van de vertex en gegeneraliseerd oedeem (alsook hypoproteïnemie en lymfopenie) als gevolg van intestinale lymfangiëctasie. Sinds 1985 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"síndrome de aplasia cutânea congénita-linfangiectasia intestinal"},"pl":{"name":"Wrodzony ubytek skóry - limfangiektazja jelitowa","synonyms":["Autosomalna recesywna aplazja skóry","Zespół Bronspiegela i Zelnicka"]},"cs":{"name":"Syndrom zahrnující aplasia cutis congenita a intestinální lymfangiektázii","synonyms":["Autozomálně recesivní aplasia cutis","Bronspiegelův-Zelnickův syndrom","Bronspiegel-Zelnickův syndrom"]},"uk":{"name":"Синдром вродженої аплазії шкіри - кишкової лімфангіектазії","synonyms":["Синдром Броншпігеля-Зельніка"],"definition":"An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterized by aplasia cutis congenita of the vertex and generalized edema (as well as hypoproteinemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985."},"zh":{"name":"先天性表皮发育不良肠淋巴管扩张综合征","synonyms":["Bronspiegel-Zelnick综合征"]},"tr":{"name":"Aplasia kutis konjenita-bağırsak lenfaryektazi sendromu","synonyms":["Bronspiegel-Zelnick sendromu"]}},"xrefs":[{"source":"OMIM","code":"207731","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q84.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1746934910"},{"source":"MONDO","code":"0008808","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537788","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304031","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"753","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":165655,"name":"Genetic intestinal disease","classifications":[156]},{"orpha":183481,"name":"Genetic mixed dermis disorder","classifications":[156]},{"orpha":79380,"name":"Mixed dermis disorder","classifications":[187]},{"orpha":568044,"name":"Primary lymphedema with systemic or visceral involvement","classifications":[147,156,187,198]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":117569,"name":"Rare intestinal disease","classifications":[152]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3984978[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3984978[PMID]"}],"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:0007598","label":"Bilateral single transverse palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001362","label":"Skull defect","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003075","label":"Hypoproteinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001888","label":"Lymphopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null}]}}