Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A total autosomal trisomy that is caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, neurosensorial or endocrine defects. Disease data Classification Malformation syndrome Synonyms Trisomy 21 Trisomia 21 ORPHA code 870 OMIM code 190685 ICD10 code Q90.9 ICD11 code LD40.0 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl