Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive. Disease data Klasyfikacja Malformation syndrome Synonimy Del(10)(q22.3q23.3) Del(10)(q22.3q23.3) Delecja 10q22.3q23.3 Monosomia 10q22.3q23.3 Deletion 10q22.3q23.3 Monosomy 10q22.3q23.3 Kod ORPHA 276413 Kod OMIM 612242 Kod ICD10 Q93.5 Kod ICD11 - *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