Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Distal monosomy 4q is a partial autosomal monosomy characterized by variable combination of craniofacial, developmental, digital, skeletal, and cardiac features: hypotonia, developmental delay, growth deficiency, cleft palate, cardiovascular malformations, abnormalities of the hands and feet and typical dysmorphic features, such as microcephaly, rounded facies, small eyes, broad nasal bridge, upturned nose, full cheeks, small mouth and chin. Disease data Classification Malformation syndrome Synonyms Distal deletion 4q Delecja dystalna 4q Delecja telomerowa 4q Monosomia 4qter Monosomy 4qter Telomeric deletion 4q ORPHA code 96145 OMIM code - ICD10 code Q93.5 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