Orofaciodigital syndrome Gabrielli type

Overview

A rare genetic disorder involving oral, facial and digital abnormalities as well as skeletal anomalies and psychomotor delay.

Symptoms

* Cleft palate * Psychomotor delay * Vertebral anomalies * Skeletal anomalies * Oral abnormalities

Causes

* Acrofacial dysostosis Preis type * Asymmetric short stature syndrome * Battaglia Neri syndrome * Brachydactyly, long thumb type * CDG syndrome (generic term)