{"orpha":1046,"name":"Lethal hemolytic anemia-genital anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Water-West syndrome"],"definition":"A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1046/","orphanet_url":"https://www.orpha.net/en/disease/detail/1046","names":{"fr":{"name":"Syndrome d'anémie hémolytique létale-anomalies génitales","synonyms":["Syndrome de Waters-West"],"definition":"Maladie génétique rare caractérisée par une anémie hémolytique létale non sphérocytaire et non immunitaire, en association avec des anomalies des organes génitaux externes (micropénis et hypospadias). Les caractéristiques dysmorphiques rapportées se traduisent par un occiput plat, des fossettes sur les lobes d'oreilles, des plis plantaires profonds et un sillon hallucal (espace entre le premier le deuxième orteil). Aucun cas n'a été décrit dans la littérature depuis 1995."},"de":{"name":"Letale hämolytische Anämie-Genitalfehlbildungen-Syndrom","synonyms":["Waters-West-Syndrom"],"definition":"Eine seltene genetische Störung, die charakterisiert ist durch das Zusammentreffen einer letalen, nicht-sphärozytären, nicht-immunologischen hämolytischen Anämie mit Anomalien der äußeren Genitalien (Mikropenis und Hypospadie), flachem Hinterkopf, Ohrmuschelgrübchen, tiefen Furchen der Fußsohle und vergrößertem Abstand von I. und II. Zehe. Seit 1995 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de anemia hemolítica letal-anomalías genitales","definition":"Es una enfermedad de base genética poco frecuente caracterizada por anemia letal hemolítica no esferocítica y no inmunológica, asociada a anomalías de los genitales externos (como micropene e hipospadias). Los rasgos dismórficos descritos incluyen occipucio plano, lóbulos de las orejas con hoyuelos, pliegues plantares profundos y un incremento del espacio entre el primer y el segundo dedo del pie. No ha habido más descripciones en la literatura desde 1995."},"it":{"name":"Sindrome da anemia emolitica letale-anomalie dei genitali","definition":"Si tratta di una malattia genetica rara, caratterizzata da anemia emolitica letale non sferocitica non immune, associata ad anomalie dei genitali esterni (micropene e ipospadia). I dismorfismi comprendono l'appiattimento dell'occipite, i lobi delle orecchie con fossette, le pieghe plantari profonde, e il primo e il secondo dito del piede iperdistanziati. Non sono stati descritti nuovi casi dopo il 1995."},"nl":{"name":"Letale hemolytische anemie - genitale anomalieën-syndroom","synonyms":["Syndroom van Waters-West"],"definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door letale niet-sferocytaire, niet-immune hemolytische anemie, in associatie met afwijkingen van de uitwendige geslachtsorganen (zoals micropenis en hypospadie). Dysmorfe kenmerken die werden gerapporteerd, zijn onder meer plat achterhoofd, kuiltjes in de oorlellen, diepe huidplooien op de voetzolen, en verhoogde ruimte tussen de eerste en tweede tenen. Sinds 1995 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de anemia hemolítica letal-anomalias genitais"},"pl":{"name":"Śmiertelna anemia hemolityczna - anomalie narządów płciowych","synonyms":["Zespół Watera i Westa"]},"cs":{"name":"Syndrom zahrnující letální hemolytickou anémii a anomálie genitálu","synonyms":["Watersové-Westové syndrom","Waters-Westové syndrom"]},"uk":{"name":"Синдром летальної гемолітичної анемії-генітальних аномалій","synonyms":["Синдром Вотер-Вест"],"definition":"A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995."},"zh":{"name":"致死性溶血性贫血-生殖器异常综合征","synonyms":["Water-West综合征"]},"tr":{"name":"Letal hemolitik anemi-genital anomaliler sendromu","synonyms":["Water-West sendromu"]}},"xrefs":[{"source":"OMIM","code":"600461","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D58.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010891","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304746","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2642","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":182043,"name":"Rare constitutional hemolytic anemia","classifications":[156,194]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7726230[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7726230[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001928","label":"Abnormality of coagulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null}]}}