Orofaciodigital syndrome type1
Overview
A rare genetic disorder characterized by variable malformations of the face, digits and inside the mouth. Type 1 is distinguished from the other types of this condition by the presence of polycystic kidneys and a X-linked dominant inheritance
Symptoms
* Thickened alveolar ridges * Short fingers * Small nostrils * Dysarthria * Clumsy gait
Causes
* 1q deletion * 2q deletion * 3q deletion * 46,XX chromosome 7 deletion p13 * 49,XXXXX syndrome