Orofaciodigital syndrome- Shashi type
Overview
A rare genetic disorder involving oral, facial and digital abnormalities as well as the absence of the pituitary gland.
Symptoms
* Absent pituitary gland * Dysmorphic facial features * Extra fingers * Extra toes * Oculomotor abnormalities
Causes
* 1q deletion * 2q deletion * 3q deletion * 46,XX chromosome 7 deletion p13 * 49,XXXXX syndrome