/Cornelia de Lange syndrome

Cornelia de Lange syndrome

Rare Disease

MONDO:0016033

Also Known As

Brachmann de Lange syndromeBrachmann-de Lange syndromeCornelia de Lange syndromeDe Lange syndromeCDLS

Definition

A rare syndrome characterized by low birth weight, delayed growth, intellectual disabillity, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.