Cornelia De Lange Syndrome: A Case Report

CLINICAL CONTENT WRITTEN & REVIEWED BY CLOVE CLINICAL TEAM

Last Modified: December 7, 2023

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Cornelia de Lange syndrome (CdLS) is an uncommon congenital condition. It is also often called as Amsterdam dwarfism.It often manifests in a child as low body weight at birth. As the child grows, it shows distinctive features like delayed growth and development, hirsutism,

short stature and unique facial characteristics. Often the child shows retarded physical and mental development. This syndrome is often diagnosed based on clinical features as there are no biochemical or chromosomal markers for CdLS which presents itself as a diagnostic challenge.

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