{"orpha":1277,"name":"Brachydactyly-mesomelia-intellectual disability-heart defects syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Stratton-Garcia-Young syndrome"],"definition":"Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1277/","orphanet_url":"https://www.orpha.net/en/disease/detail/1277","names":{"fr":{"name":"Syndrome de brachydactylie-mésomélie-déficience intellectuelle-malformations cardiaques","synonyms":["Syndrome de Stratton-Garcia-Young"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par un retard de développement, une déficience intellectuelle, un habitus svelte et des épaules étroites, un raccourcissement mésomélique des bras, une dysmorphie craniofaciale (tiers inférieur du visage allongé, hypoplasie maxillaire, nez en bec, columelle courte, prognathie, palais ogival, angle mandibulaire obtus), brachydactylie (touchant principalement les phalanges moyennes) et anomalies cardiovasculaires (dilatation de la racine aortique, prolapsus de la valvule mitrale)."},"de":{"name":"Brachydaktylie-Mesomelie-Intelligenzminderung-Herzfehler-Syndrom","synonyms":["Stratton-Garcia-Young-Syndrom"],"definition":"Ein seltenes, genetisch bedingtes Dysmorphie-Syndrom mit multiplen kongenitalen Anomalien. Es ist gekennzeichnet durch Entwicklungsverzögerung, Intelligenzminderung, dünnen Habitus mit schmalen Schultern, mesomele Verkürzung der Arme, kraniofaziale Dysmorphien (z. B. langes Untergesicht, Oberkieferhypoplasie, Schnabelnase, kurze Columella, Prognathie, hochgewölbter Gaumen, stumpfer Unterkieferwinkel), Brachydaktylie (meist an den Mittelgliedern) und kardiovaskuläre Anomalien (z. B. Aortenwurzelerweiterung, Mitralklappenprolaps)."},"es":{"name":"Síndrome de braquidactilia-mesomelia-discapacidad intelectual-malformaciones cardíacas","synonyms":["Síndrome de Stratton-Garcia-Young"],"definition":"Es un síndrome dismórfico genético y poco frecuente caracterizado por retraso en el desarrollo, discapacidad intelectual, habitus delgado con hombros estrechos, acortamiento mesomélico de los brazos, dismorfia craneofacial (p. ej., parte inferior del rostro alargada, hipoplasia maxilar, nariz en pico, columela corta, prognatia, paladar ojival, ángulo mandibular obtuso), braquidactilia (que afecta fundamentalmente a las falanges medias) y anomalías cardiovasculares (tales como dilatación de la raíz aórtica, prolapso de la válvula mitral)."},"it":{"name":"Sindrome brachidattilia-mesomelia-disabilità intellettiva-cardiopatie","synonyms":["Sindrome di Stratton-Garcia-Young"],"definition":"La sindrome da brachidattilia, mesomelia, disabilità intellettiva e cardiopatie è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo, disabilità intellettiva, habitus esile con spalle strette, accorciamento mesomelico delle braccia, dismorfismi craniofacciali (porzione inferiore del viso allungata, ipoplasia mascellare, naso a becco, columella corta, prognazia, palato ogivale, angolo mandibolare ottuso), brachidattilia (che interessa soprattutto le falangi medie) e anomalie cardiovascolari (dilatazione della radice dell'aorta, prolasso della valvola mitrale)."},"nl":{"name":"Brachydactylie - mesomelie - intellectuele achterstand - hartdefecten-syndroom","synonyms":["Syndroom van Stratton-Garcia-Young"],"definition":"Brachydactylie - mesomelie - intellectuele achterstand - hartdefecten-syndroom is een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door ontwikkelingsachterstand, intellectuele achterstand, dunne lichaamsbouw met smalle schouders, mesomele verkorting van de armen, craniofaciale dysmorfie (e.g. lang ondergezicht, maxillaire hypoplasie, bekvormige neus, korte columella, prognathie, hoog gebogen verhemelte, stompe mandibulaire hoek), brachydactylie (meestal met betrokkenheid van de middelste falangen) en cardiovasculaire anomalieën (i.e. dilatatie van de aortawortel, mitralisklepprolaps)."},"pt":{"name":"Síndrome de braquidactilia-mesomelia-perturbação do desenvolvimento intelectual-defeitos cardíacos","synonyms":["Síndrome Stratton-Garcia-Young"]},"pl":{"name":"Brachydaktylia - mezomelia - niepełnosprawność intelektualna - wady serca","synonyms":["Zespół Strattona, Garcia i Younga"],"definition":"*Brachydaktylia - mezomelia - niepełnosprawność intelektualna - wady serca jest rzadkim, genetycznie uwarunkowanym zespołem licznych wad wrodzonych/zespołem dysmorficznym, który charakteryzuje się opóźnieniem rozwoju, niepełnosprawnością intelektualną, smukłą klatką piersiową z wąskimi ramionami, skróceniem przedramion, dysmorfią twarzoczaszki (wydłużona dolna część twarzy, niedorozwój szczęki, zakrzywiony/haczykowaty nos, krótka rynienka podnosowa, prognatyzm, wysokie podniebienie, rozwarty kąt żuchwy), brachydaktylią (głównie dotycząca środkowych paliczków) oraz nieprawidłowościami sercowo-naczyniowymi (tj. poszerzenie pnia aorty, wypadanie zastawki mitralnej)."},"cs":{"name":"Syndrom zahrnující brachydaktylii, mezomelii, mentální retardaci a srdeční vady","synonyms":["Strattonův-Garciaův-Youngův syndrom","Stratton-Garcia-Youngův syndrom"]},"uk":{"name":"Синдром брахідактилії-мезомелії-інтелектуальної недостатності-серцевих вад","synonyms":["Синдром Страттона-Гарсія-Янга"],"definition":"Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse)."},"zh":{"name":"短指畸形-智力低下-心脏缺陷综合征","synonyms":["Stratton-Garcia-Young综合征"]},"tr":{"name":"Brakidaktili-mezomeli-zihinsel yetersizlik-kalp defektleri sendromu","synonyms":["Stratton-Garcia-Young sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015259","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4707567","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5036","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8484398[PMID]_8074158[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8484398[PMID]_8074158[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003043","label":"Abnormality of the shoulder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004299","label":"Hernia of the abdominal wall","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100818","label":"Long thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null}]}}