Hersh Podruch Weisskopk syndrome

Overview

A very rare syndrome characterized mainly by progressive retinal damage, mental retardation and deafness.

Symptoms

* Mental retardation * Deafness * Retinitis pigmentosa * Retarded growth * Enlarged fontanel * Prominent forehead * Antimongoloid palpebral slants * Short midface * Small nose * Flat nose * Low set ears * Epicanthic folds * Reduced muscle tone * Simian crease * Delayed puberty * Nystagmus * Weak eye muscles

Diagnosis

signs and symptoms of Hersh-Podruch-Weisskopk syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Hersh-Podruch-Weisskopk syndrome symptoms.