{"orpha":1237,"name":"Beemer-Ertbruggen syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Lethal hydrocephalus-cardiac malformation-dense bones syndrome"],"definition":"Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1237/","orphanet_url":"https://www.orpha.net/en/disease/detail/1237","names":{"fr":{"name":"Syndrome de Beemer-Ertbruggen","synonyms":["Syndrome létal d'hydrocéphalie-malformation cardiaque-hyperdensité osseuse"],"definition":"Un syndrome malformatif létal décrit chez deux frères nés de parents cousins au premier degré. Il se caractérise par une hydrocéphalie, une malformation cardiaque, une densité osseuse excessive et une dysmorphie faciale avec des fentes palpébrales obliques en bas et en dehors, un nez bulbeux, un pont nasal large, une micrognathie et une lèvre supérieure longue. Il n'y a pas eu de description ultérieure dans la littérature depuis 1984."},"de":{"name":"Beemer-Ertbruggen-Syndrom","synonyms":["Hydrozephalus - Herzfehlbildung - hohe Knochendichte"],"definition":"Das Beemer-Ertbruggen-Syndrom ist ein letales Fehlbildungs-Syndrom. Es wurde bei 2 Brüdern mit blutsverwandten Eltern (Vetter und Cousine 1. Grades) beschrieben. Kennzeichnende Symptome sind: Hydrozephalus, Herzfehlbildungen, dichte Knochensubstanz und faziale Dysmorphien (schräg abwärts verlaufende Lidspalten, kolbige Nase, breiter Nasenrücken, Mikrogenie und lange Oberlippe). Wahrscheinlich wird das Syndrom autosomal-rezessiv vererbt. Weitere Fälle sind seit 1984 nicht mehr beschrieben worden."},"es":{"name":"Síndrome de Beemer-Ertbruggen","synonyms":["Síndrome letal de hidrocefalia-malformación cardíaca-huesos densos"],"definition":"El síndrome de Beemer-Ertbruggen es un síndrome malformativo letal, reportado en 2 hermanos de padres primos hermanos, caracterizado por hidrocefalia, malformación cardíaca, huesos densos y facies peculiar con fisuras palpebrales inclinadas hacia abajo, nariz bulbosa, puente nasal ancho, micrognatia y labio superior largo. No ha habido más descripciones en la literatura desde 1984."},"it":{"name":"Sindrome di Beemer-Ertbruggen","synonyms":["Idrocefalo - malformazione cardiaca - ossa dense"],"definition":"La sindrome di Beemer-Ertbruggen è una condizione malformativa letale, descritta in due fratelli, figli di cugini di primo grado. È caratterizzata da idrocefalo, cardiopatia, ossa dense e facies atipica (rime palpebrali rivolte verso il basso, naso globoso, sella nasale ampia, micrognazia e labbro superiore lungo). Non sono stati descritti nuovi casi dopo il 1984."},"nl":{"name":"Syndroom van Beemer-Ertbruggen","synonyms":["Letaal hydrocefalus - hartmalformatie - hoge botdensiteit-syndroom"],"definition":"Syndroom van Beemer-Ertbruggen is een letaal malformatiesyndroom dat werd gerapporteerd in 2 broers van ouders met volle neef-nichtverwantschap, en dat wordt gekarakteriseerd door hydrocefalie, hartmalformatie, botten met grote dichtheid, en een ongewoon gelaat met neerwaartse ooglidspleten, bolle neus, brede neusbrug, micrognathie en lange bovenlip. Sinds 1984 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Beemer-Ertbruggen","synonyms":["Síndrome letal de hidrocefalia-malformação cardíaca-ossos densos"]},"pl":{"name":"Zespół Beemera i Ertbruggena","synonyms":["Śmiertelny zespół wodogłowia, wad serca i gęstych kości"]},"cs":{"name":"Beemerův-Ertbruggenův syndrom","synonyms":["Syndrom zahrnující hydrocefalus, srdeční malformace a zvýšenou denzitu kostí","Beemer-Ertbruggenův syndrom"]},"uk":{"name":"Синдром Бімера-Ертбрюггена","synonyms":["Летальний синдром гідроцефалії - серцевої вади - щільних кісток"],"definition":"Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984."},"zh":{"name":"Beemer-Ertbruggen综合征","synonyms":["致死性脑积水-心脏畸形-致密骨综合征"]},"tr":{"name":"Beemer-Ertbruggen sendromu","synonyms":["Letal hidrosefali-kardiyak malformasyon-yoğun kemik sendromu"]}},"xrefs":[{"source":"OMIM","code":"209970","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008857","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537668","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1859526","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"846","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"6507485[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6507485[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002002","label":"Deep philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001334","label":"Communicating hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Frequent (79-30%)","criteria":null}]}}