Thickened earlobes with conductive deafness from incus-stapes abnormalities

Overview

A very rare syndrome characterized by thick earlobes and conductive deafness due to an inner ear structure abnormality. The deafness is non-progressive and occurs at birth.

Symptoms

* Thick earlobes * Conductive deafness * Middle ear abnormality * Small jaw

Causes

* 14q+ syndrome - small jaw * 18p minus syndrome - small lower jaw * 1q deletion - small jaw * 2q deletion - small jaw * 2q22-q24 deletion - small jaw