Otoonychoperoneal syndrome

Overview

A very rare syndrome characterized mainly by underdeveloped ears and nails, shoulder anomalies and straight collarbones.

Symptoms

* Underdeveloped ears * Posteriorly rotated ears * Broad toes * Partial absence of nails * Collar bone abnormality

Causes

* 1q deletion * 2p21 deletion syndrome * 3q deletion * 47,XXX syndrome