{"orpha":398069,"name":"Schaaf-Yang syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["SYS"],"definition":"A rare imprinting disorder characterized by muscular hypotonia, joint contractures/arthrogryposis, developmental delay, usually mild to moderate intellectual disability, short stature, hypogonadism, autism spectrum disorder and, less often, hyperphagia and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-398069/","orphanet_url":"https://www.orpha.net/en/disease/detail/398069","names":{"fr":{"name":"Syndrome de Schaaf-Yang","definition":"Maladie rare liée à des anomalies de l'empreinte génétique caractérisée par une hypotonie musculaire, des contractures articulaires/arthrogrypose, un retard de développement, une déficience intellectuelle généralement légère à modérée, une petite taille, un hypogonadisme, des troubles du spectre de l'autisme et, moins souvent, une hyperphagie et des crises convulsives."},"de":{"name":"Schaaf-Yang-Syndrom","synonyms":["SYS"],"definition":"Eine seltene Imprinting-Störung, die durch Muskelhypotonie, Gelenkkontrakturen/Arthrogrypose, Entwicklungsverzögerung, in der Regel leichte bis mittlere Intelligenzminderung, Kleinwuchs, Hypogonadismus, Autismus-Spektrum-Störung und seltener Hyperphagie und Krampfanfälle gekennzeichnet ist."},"es":{"name":"Síndrome de Schaaf-Yang","synonyms":["SYS"],"definition":"Es un trastorno de impronta poco frecuente caracterizado por hipotonía muscular, contracturas articulares/artrogriposis, retraso del desarrollo, discapacidad intelectual generalmente de leve a moderada, talla baja, hipogonadismo, trastorno del espectro autista y, con menor frecuencia, hiperfagia y crisis epilépticas."},"it":{"name":"Sindrome di Schaaf-Yang","synonyms":["SYS"]},"nl":{"name":"Syndroom van Schaaf-Yang","synonyms":["SYS"],"definition":"Een zeldzame imprintingsstoornis, gekenmerkt door spierhypotonie, gewrichtscontracturen/artrogrypose, ontwikkelingsachterstand, meestal milde tot matige intellectuele achterstand, kleine gestalte, hypogonadisme, autismespectrumstoornis en, minder vaak, hyperfagie en insulten."},"pt":{"name":"Síndrome Schaaf-Yang","synonyms":["SYS"]},"pl":{"name":"Zespół Schaafa-Yanga","synonyms":["SYS"],"definition":"Rzadki zespół podobny do zespołu Pradera-Williego charakteryzujący się artrogrypozą, w tym przykurczami stawów międzypaliczkowych bliższych i dalszych oraz zaburzeniami ze spektrum autyzmu spowodowanymi mutacją MAGEL2. Nakładający się z zespołem Pradera-Willego fenotyp obejmuje hipotonię, trudności w karmieniu, przyrost masy ciała, opóźnienie rozwoju, niepełnosprawność intelektualną i hipogonadyzm. W przeciwieństwie do pacjentów z zespołem Pradera-Williego u mniejszości występuje hiperfagia i chorobliwa otyłość."},"cs":{"name":"Praderův-Williho syndrom způsobený bodovou mutací","synonyms":["PWS způsobený bodovou mutací","Prader-Williho syndrom způsobený bodovou mutací"]},"uk":{"name":"Синдром Прадера-Віллі, повязаний з MAGEL2","synonyms":["PWLS, повязані з MAGEL2","Синдром Шаафа-Янга"],"definition":"A rare Prader-Willi-like syndrome characterized by arthrogryposis, including contractures of the proximal and distal interphalangeal joints, and autism spectrum disorder due to MAGEL2 mutation. Overlapping phenotypes with Prader-Willi syndrome include hypotonia, feeding difficulties, weigth gain, developmental delay, intellectual disability and hypogonadism. Minority of patients manifest hyperphagia and morbid obesity in contrast to patients with Prader-Willi syndrome."},"zh":{"name":"MAGEL2相关的普拉德-威利样综合征","synonyms":["Schaaf-Yang综合征"]},"tr":{"name":"MAGEL2-ilişkili Prader-Willi benzeri sendrom","synonyms":["MAGEL2-ilişkili PWLS","Schaaf-Yang sendromu"]}},"xrefs":[{"source":"OMIM","code":"615547","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014243","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C000726748","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5575066","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13316","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":641343,"name":"Imprinting disorders","classifications":[156]},{"orpha":398073,"name":"Prader-Willi-like syndrome","classifications":[147,156,181,193,201,205]}],"children":[],"genes":[{"symbol":"MAGEL2","name":"MAGE family member L2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24076603[PMID]","hgnc":"6814","ensembl":"ENSG00000254585","omim":"605283","loci":["15q11.2"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":250.0,"area":"Worldwide","status":"Validated","source":"33570896[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27195816[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-18","source":"20301505[PMID]_27195816[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor 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(79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000064","label":"Hypoplastic labia minora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012287","label":"Hypothalamic luteinizing hormone-releasing hormone deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004324","label":"Increased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040288","label":"Nasogastric tube feeding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001315","label":"Reduced tendon reflexes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012166","label":"Skin-picking","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012506","label":"Small pituitary gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000046","label":"Small 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