Cri-du-chat

Molecular Etiology

 * 5p15.3 critical region for cat cry; 5p15.2 for other features
 * Deletion size varies
 * 85% de novo
 * 15% Balanced Translocations in parents

Associated Birth Defects

 * Cardiac Defects = 30%

Craniofacial Features

 * microcephaly
 * round face
 * hypertelorism
 * downslanting eyes

Extremities

 * transverse palmar crease (Simian Crease)

Endocrine/Growth

 * IUGR

Neurological

 * Intellectual Disability (Moderate to Severe)
 * Cat-like cry due to abnormal laryngeal development; will improve with age