Journal article

Koolen-de Vries Syndrome

David A Koolen, Angela Morgan, Bert BA de Vries

Published : 2019

Abstract

Clinical characteristicsKoolen-de Vries syndrome (KdVS) is characterized by developmental delay / intellectual disability, neonatal/childhood hypotonia, dysmorphisms, congenital malformations, and behavioral features. Psychomotor developmental delay is noted in all individuals from an early age. The majority of individuals with KdVS function in the mild-to-moderate range of intellectual disability. Other findings include speech and language delay (100%), epilepsy (~33%), congenital heart defects (25%-50%), renal and urologic anomalies (25%-50%), and cryptorchidism (71% of males). Behavior in most is described as friendly, amiable, and cooperative.Diagnosis/testingThe diagnosis of Koolen-de V..

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Awarded by NLM NIH HHS