RARE DISEASE CORNELIA DE LANGE SYNDROME: DIAGNOSTIC CRITERIA. CASE FROM PRACTICE

Abstract

Cornelia de Lange syndrome is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symp toms. This article describes the the clinical observation of a 6-year-old patient treated with the diagnosis of Corne lius de Lange syndrome in the multidisciplinary clinic of the Tashkent Medical Academy.