Smith-magenis

Molecular Etiology

 * 17p11.2
 * CMT1A deletion
 * HNPP duplication
 * Karyotype = >90% sensitivity

Craniofacial Features

 * brachycephaly
 * prominent forehead
 * synophrys
 * epicanthal folds
 * broad nasal bridge
 * malformed ears

Neurological

 * peripheral neuropathy
 * behavioral issues
 * sleep disturbance
 * seizures
 * hyperactivity