Cornelia de Lange syndrome 3

Overview

A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 3 is a very mild form of the disorder and is typified by mildly unusual facial appearance and no skeletal or limb malformations.

Symptoms

* High arched eyebrows * Fused eyebrows * Long eyelashes * Thin lips * Small hands

Causes

* 47,XXX syndrome * Acrocallosal syndrome * Brachycephalofrontonasal dysplasia * Chondrodysplasia punctata with steroid sulfatase deficiency * Chromosome 4, Monosomy 4q