{"orpha":2470,"name":"Matthew-Wood syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Anophthalmia-pulmonary hypoplasia syndrome","PDAC syndrome","Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome","Spear syndrome"],"definition":"A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2470/","orphanet_url":"https://www.orpha.net/en/disease/detail/2470","names":{"fr":{"name":"Syndrome de Matthew-Wood","synonyms":["Syndrome PDAC","Syndrome d'anophtalmie-hypoplasie pulmonaire","Syndrome d'hypoplasie pulmonaire-hernie diaphragmatique-anophtalmie-cardiopathie","Syndrome de Spear"],"definition":"Syndrome de malformations congénitales rare, d'origine génétique, caractérisé par une anophtalmie bilatérale (ou moins fréquemment une microphtalmie) en association avec les manifestations suivantes de manière inconstante : hypoplasie ou agénésie pulmonaire, hernie ou éventration diaphragmatique congénitale et anomalies cardiovasculaires variables (malformations cardiaques congénitales et/ou atrésie artérielle pulmonaire). Une déficience intellectuelle est observée chez les patients qui ne décèdent pas de la maladie. D'autres malformations, inconstantes, touchant différents systèmes d'organes, ainsi qu'une dysmorphie faciale, peuvent être observées."},"de":{"name":"Matthew-Wood-Syndrom","synonyms":["Anophthalmie-Lungenhypoplasie-Syndrom","PDAC-Syndrom","Pulmonale Hypoplasie-Zwerchfellhernie-Anophthalmie-Herzfehler-Syndrom","Spear-Syndrom"],"definition":"Ein genetisch bedingtes kongenitales Fehlbildungssyndrom, das durch beidseitige Anophthalmie (oder seltener Mikrophthalmie) in Verbindung mit einer variablen Kombination der folgenden Merkmale gekennzeichnet ist: pulmonale Hypoplasie oder Agenesie, kongenitale Zwerchfellhernie oder -eventration und variable kardiovaskuläre Defekte (kongenitale Herzfehler und/oder Lungenarterienatresie). Bei überlebenden Patienten wird eine Intelligenzminderung festgestellt. Andere variable Fehlbildungen, die verschiedene Organsysteme betreffen, sowie Gesichtsdysmorphismus können beobachtet werden."},"es":{"name":"Síndrome de Matthew-Wood","synonyms":["Síndrome de anoftalmia-hipoplasia pulmonar","Síndrome de hipoplasia pulmonar-hernia diafragmática-anoftalmia-defecto cardíaco"],"definition":"Es un síndrome poco frecuente de malformaciones congénitas de origen genético caracterizado por anoftalmia bilateral (o menos comúnmente microftalmia) en asociación con una combinación variable de hipoplasia o agenesia pulmonar, hernia o eventración diafragmática congénita y defectos cardiovasculares diversos (anomalías cardíacas congénitas y/o atresia pulmonar). Los pacientes que sobreviven manifiestan discapacidad intelectual. También se han descrito otras malformaciones variables que afectan a diferentes sistemas orgánicos, así como dismorfia facial."},"it":{"name":"Sindrome di Matthew-Wood","synonyms":["Sindrome ipoplasia polmonare-ernia diaframmatica-anoftalmia-cardiopatia","Sindrome PDAC","Sindrome di Spear","Sindrome ipoplasia polmonare-anoftalmia","Anoftalmia - ipoplasia polmonare","MCOPS9","Microftalmia sindromica, tipo 9"]},"nl":{"name":"Syndroom van Matthew-Wood","synonyms":["Anoftalmie - pulmonale hypoplasie-syndroom","PDAC-syndroom","Pulmonale hypoplasie - hernia diaphragmatica - anoftalmie - hartdefect-syndroom","Syndroom van Spear"],"definition":"Een zeldzaam, genetisch congenitaal malformatiesyndroom, gekenmerkt door bilaterale anoftalmie (of minder gangbaar microftalmie) in associatie met een variabele combinatie van de volgende: hypoplasie of agenesie van long, congenitale hernia of eventratie van diafragma, en variabele cardiovasculaire defecten (congenitale hartdefecten en/of atresie van longslagader). Bij overlevende patiënten wordt intellectuele achterstand opgemerkt. Andere variabele malformaties die verschillende orgaansystemen treffen, alsook faciale dysmorfie kunnen waargenomen worden."},"pt":{"name":"Síndrome Matthew-Wood","synonyms":["Síndrome PDAC","Síndrome de anoftalmia-hipoplasia pulmonar","Síndrome de hipoplasia pulmonar-hernia diafragmática-anoftalmia-anomalia cardíaca"],"definition":"Síndrome genética rara de malformações congénitas, caracterizada por anoftalmia bilateral (ou, menos comummente, microftalmia) em associação com uma combinação variável das seguintes manifestações: hipoplasia ou agenesia pulmonar, hérnia diafragmática congénita ou eventração e defeitos cardiovasculares variáveis &#8203;&#8203;(cardiopatia congénita e/ou atresia da artéria pulmonar). Ocorre perturbação do desenvolvimento intelectual nos doentes que sobrevivem. Outras malformações variáveis &#8203;&#8203;que afetam diferentes sistemas orgânicos, bem como dismorfia facial, podem ser observadas."},"pl":{"name":"Zespół Matthew i Wooda","synonyms":["MCOPS9","Anoftalmia - hipoplazja płuc","Syndromiczna mikroftalmia typu 9"],"definition":"Rzadki zespół wrodzonych wad rozwojowych charakteryzujący się obustronną anoftalmią (lub rzadziej mikroftalmią) w połączeniu ze zmienną kombinacją następujących objawów: hipoplazja lub agenezja płuc, wrodzona przepuklina przeponowa lub wytrzewienie oraz różnorodne wady układu sercowo-naczyniowego (wrodzone wady serca i/lub atrezja tętnicy płucnej). U pacjentów którzy przeżyli stwierdza się niepełnosprawność intelektualną. Można zaobserwować inne wady rozwojowe dotyczące różnych układów narządów, a także dysmorfię twarzy."},"cs":{"name":"Matthewův-Woodův syndrom","synonyms":["Syndrom zahrnující anoftalmii a plicní hypoplázii","MCOPS9","Syndromická mikroftalmie, typ 9","Matthew-Woodův syndrom"]},"uk":{"name":"Синдром Метью-Вуда","synonyms":["Синдром анофтальмії-легеневої гіпоплазії","Синдром PDAC","Синдром гіпоплазії легень-діафрагмальної грижи-анофтальмії- серцевої вади","Синдром Сперса"],"definition":"A rare, genetic congenital malformation syndrome characterized by bilateral anopthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed."},"zh":{"name":"Matthew-Wood综合征","synonyms":["无眼畸形-肺发育不全综合征"]},"tr":{"name":"Matthew-Wood sendromu","synonyms":["MCOPS9","Sendromik mikroftalmi tip 9","Anoftalmi-pulmoner hipoplazi sendromu"]}},"xrefs":[{"source":"OMIM","code":"601186","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"119135277"},{"source":"MONDO","code":"0011010","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537768","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832661","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"713","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":91129,"name":"Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome","status":"inactive"}],"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":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":183622,"name":"Genetic respiratory malformation","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":108993,"name":"Non-syndromic respiratory or mediastinal malformation","classifications":[156]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]},{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall malformation","classifications":[147,182]},{"orpha":180779,"name":"Syndromic diaphragmatic or thoracic malformation","classifications":[186]},{"orpha":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]},{"orpha":108995,"name":"Syndromic respiratory or mediastinal malformation","classifications":[147,186]},{"orpha":182108,"name":"Thoracic malformation","classifications":[184]}],"children":[],"genes":[{"symbol":"STRA6","name":"signaling receptor and transporter of retinol STRA6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17503335[PMID]","hgnc":"30650","ensembl":"ENSG00000137868","omim":"610745","loci":["15q24.1"]},{"symbol":"WNT7B","name":"Wnt family member 7B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35790350[PMID]","hgnc":"12787","ensembl":"ENSG00000188064","omim":"601967","loci":["22q13.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":43.0,"area":"Worldwide","status":"Validated","source":"26373900[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26373900[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-06","source":"17236193[PMID]","terms":[{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025408","label":"Abnormal spleen morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001734","label":"Annular pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100800","label":"Aplasia/Hypoplasia of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100867","label":"Duodenal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}