Oculoauriculofrontonasal syndrome

Overview

A rare syndrome characterized mainly by eye, ear, facial and nasal abnormalities.

Symptoms

* Short head * Narrow eye slits * Droopy eyelid * S-shaped palpebral fissures * Inability to close eye completely

Causes

* 2-Hydroxyglutaricaciduria * Acrofrontofacionasal dysostosis syndrome * Allain Babin Demarquez syndrome * Antley-Bixler-like syndrome - ambiguous genitalia * Arthrogryposis multiplex congenita neurogenic type