Patterson Stevenson syndrome

Overview

A very rare syndrome characterized mainly by a missing fingers giving the hand a split appearance as well as jaw and face abnormalities.

Symptoms

* High arched palate * Deafness * Small ears * Asymmetrical face * Absent external ear * Abnormal teeth position * Small jaw * Split hand deformity * Missing finger * Missing hand bone * Cleft nostril * Mental retardation

Diagnosis

Rather than undertaking an extensive diagnostic workup, it is wise to refer the patient to the appropriate specialist. If there are neurologic signs, the patient should be referred to a neurologist. Otherwise, the patient should be referred to an orthopedic surgeon or podiatrist.