Wolf-hirschhorn

Molecular Etiology

 * 4p16.3 critical region; presence or absence affects phenotype, not deletion size
 * 87% de novo

Associated Birth Defects

 * Cleft Lip & Palate
 * Midline Scalp Defects

Endocrine/Growth

 * IUGR

Craniofacial Features

 * microcephaly
 * hypertelorism
 * prominent glabella - "Greek Helmet"
 * downturned mouth

Neurological

 * Seizures
 * Intellectual Disability (Severe)