Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from as asymptomatic parent. Disease data Classification Malformation syndrome Synonyms Distal dup(22)(q11.2) Dystalna dup(22)(q11.2) Trisomia dystalna 22q11.2 Distal trisomy 22q11.2 ORPHA code 261337 OMIM code - ICD10 code Q92.3 ICD11 code - *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