{"orpha":2471,"name":"McDonough syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2471/","orphanet_url":"https://www.orpha.net/en/disease/detail/2471","names":{"fr":{"name":"Syndrome de McDonough","definition":"Le syndrome de McDonough fait partie du groupe des syndromes associant retard mental et anomalies congénitales multiples et se caractérise par l'association des signes suivants : déficit intellectuel, visage aux traits particuliers (fentes palpébrales obliques, strabisme), cyphoscoliose, <I>diastasis recti</I>, cryptorchidisme et défaut cardiaque congénital. Ce syndrome a été décrit dans deux familles. Une transmission autosomique récessive a été suggérée."},"de":{"name":"McDonough-Syndrom","definition":"Das McDonough-Syndrom ist ein seltenes Syndrom mit multiplen angeborenen Anomalien/Dysmorphien, das durch Gesichtsdysmorphien (ausgeprägte Augenbrauenbögen, Synophrys, Strabismus, große, nach vorne gerichtete Ohren, große Nase, Zahnfehlstellung), verzögerte psychomotorische Entwicklung, Intelligenzminderung und angeborene Herzfehler (z. B. Pulmonalstenose, persistierender Ductus arteriosus, Vorhofseptumdefekt) gekennzeichnet ist. Weitere Merkmale sind Fehlbildungen des Brustkorbs (Trichterbrust/Hühnerbrust), Kyphoskoliose, Rektusdiastase und Kryptorchismus. Seit 1984 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de McDonough","definition":"El síndrome de McDonough es un síndrome dismórfico/de anomalías congénitas múltiples poco frecuente caracterizado por dismorfia facial (arcos superciliares prominentes, sinofridia, estrabismo, orejas grandes y antevertidas, nariz grande, maloclusión dental), retraso en el desarrollo psicomotor, discapacidad intelectual y cardiopatías congénitas (como estenosis pulmonar, conducto arterioso permeable, comunicación interauricular). Otras características adicionales incluyen deformidad torácica (pectus excavatum/carinatum), cifoescoliosis, diástasis de rectos y criptorquidia. No ha habido más descripciones en la literatura desde 1984."},"it":{"name":"Sindrome di McDonough"},"nl":{"name":"Syndroom van McDonough","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door faciale dysmorfie (prominente arcus superciliaris (wenkbrauwrug), synophrys, strabisme, grote en naar voren gekantelde oren, grote neus, malocclusie van tanden), vertraagde psychomotorische ontwikkeling, intellectuele achterstand, en congenitale hartdefecten (zoals pulmonalisklepstenose, persisterende ductus arteriosus, en atriumseptumdefect). Bijkomende kenmerken zijn onder meer misvorming van thorax (pectus excavatum/carinatum), kyfoscoliose, rectus-diastase, en cryptorchisme. Sinds 1984 verschenen er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome McDonough"},"pl":{"name":"Zespół McDonough"},"cs":{"name":"McDonoughových syndrom"},"uk":{"name":"Синдром МакДонаха","definition":"McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984."},"zh":{"name":"McDonough 综合征"},"tr":{"name":"McDonough sendromu"}},"xrefs":[{"source":"OMIM","code":"248950","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1349711155"},{"source":"MONDO","code":"0009570","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538158","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796038","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3424","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"6147215[PMID]_1189520[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6147215[PMID]_1189520[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:0010318","label":"Aplasia/Hypoplasia of the abdominal wall musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null}]}}