{"orpha":228410,"name":"Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["PHD syndrome","Polyvalvular heart disease syndrome","TAB2-related syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-228410/","orphanet_url":"https://www.orpha.net/en/disease/detail/228410","names":{"fr":{"name":"Syndrome d'anomalies cardiaques-petite taille-hypermobilité articulaire-dysmorphie faciale","synonyms":["Syndrome PHD","Syndrome de la maladie cardiaque polyvalvulaire"],"definition":"Syndrome d'anomalies congénitales multiples rare caractérisé par l'association d'anomalies cardiaques (le plus souvent des anomalies de la valve mitrale et une cardiomyopathie), d'une petite taille, d'une dysmorphie faciale et parfois d'un léger retard de développement."},"de":{"name":"Herzanomalien-Kleinwuchs-Gelenkhypermobilität-Gesichtsdysmorphien-Syndrom","synonyms":["Herzkrankheit, polyvalvuläre","PHD-Syndrom","Syndrom der polyvalvulären Herzfehlbildung","TAB2-Gen-assoziiertes Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Fehlbildungen, das durch eine Kombination von Herzfehlern (am häufigsten Mitralklappenfehler und Kardiomyopathie), Kleinwuchs, Gesichtsdysmorphien und gelegentlich leichter Entwicklungsverzögerung gekennzeichnet ist."},"es":{"name":"Síndrome de anomalías cardíacas-talla baja-hipermovilidad articular-dismorfia facial","synonyms":["Síndrome PHD","Síndrome asociado a TAB2","Síndrome de la enfermedad cardíaca polivalvular"],"definition":"Es un síndrome poco frecuente de anomalías congénitas múltiples caracterizado por la combinación de anomalías cardíacas (más comúnmente defectos de la válvula mitral y miocardiopatía), talla baja, dismorfia facial y, ocasionalmente, retraso leve del desarrollo."},"it":{"name":"Sindrome della cardiopatia polivalvolare","synonyms":["Sindrome PHD","Sindrome correlata a TAB2","Sindrome della cardiopatia polivalvolare"],"definition":"Si tratta di una malattia rara da anomalie congenite multiple, caratterizzata da cardiopatie (prevalentemente difetti della valvola mitrale e cardiomiopatia), bassa statura, dismorfismi facciali e, occasionalmente, lieve ritardo dello sviluppo."},"nl":{"name":"Hartanomalieën - kleine gestalte - gewrichtshypermobiliteit - faciale dysmorfie-syndroom","synonyms":["Polyvalvulaire hartziekte-syndroom","TAB2-gerelateerd syndroom","PHD-syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door de combinatie van hartanomalieën (meestal defecten van mitralisklep en cardiomyopathie), kleine gestalte, faciale dysmorfie, en soms milde ontwikkelingsachterstand."},"pt":{"name":"Síndrome de anomalias cardíacas-baixa estatura-hipermobilidade articular-dismorfia facial","synonyms":["Síndrome PHD","Síndrome TAB2-relacionada","Síndrome de doença cardíaca polivalvular"],"definition":"Síndrome rara de anomalias congénitas múltiplas caracterizada pela combinação de anomalias cardíacas (habitualmente defeitos da válvula mitral e cardiomiopatia), baixa estatura, dismorfia facial e, por vezes, ligeira perturbação do desenvolvimento intelectual."},"pl":{"name":"Zespół wielozastawkowej choroby serca","synonyms":["Zespół PHD","Zespół wad serca, niskiego wzrostu, nadmiernej ruchomości stawów i dysmorfii twarzy"]},"cs":{"name":"Syndrom polyvalvulárního srdečního onemocnění","synonyms":["PHD syndrom"]},"uk":{"name":"Синдром серцевих аномалій-низькорослості-гіпермобільності суглобів-дисморфізму обличчя","synonyms":["PHD-синдром","Синдром поліклапанного пороку серця","TAB2-асоційований синдром"],"definition":"A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay."},"zh":{"name":"多瓣膜性心脏病综合征","synonyms":["PHD综合征"],"definition":"心脏多瓣膜疾病综合征是一种最近报道的以多瓣膜性心脏病、身材矮小、面部畸形和智力缺陷为特征的综合征。"},"tr":{"name":"Polivalvüler kalp hastalığı sendromu","synonyms":["PHD sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016460","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509918","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":139030,"name":"Rare developmental defect with connective tissue involvement","classifications":[147,156]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[{"orpha":664404,"name":"6q25.1 microdeletion syndrome","type":"Etiological subtype"},{"orpha":664401,"name":"Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"TAB2","name":"TGF-beta activated kinase 1 (MAP3K7) binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31959127[PMID]","hgnc":"17075","ensembl":"ENSG00000055208","omim":"605101","loci":["6q25.1"],"via":{"orpha":664401,"name":"Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation"}},{"symbol":"TAB2","name":"TGF-beta activated kinase 1 (MAP3K7) binding protein 2","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20493459[PMID]","hgnc":"17075","ensembl":"ENSG00000055208","omim":"605101","loci":["6q25.1"],"via":{"orpha":664404,"name":"6q25.1 microdeletion syndrome"}}],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"19932204[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19932204[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"19932204[PMID]","terms":[{"hpo":"HP:0001654","label":"Abnormal heart valve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001650","label":"Aortic valve stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001699","label":"Sudden death","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null}]}}