HARD syndrome

Overview

A rare genetic disorder characterized by a smooth brain surface and eye, genitourinary and other abnormalities.

Symptoms

* Type II lissencephaly * Argyria * Macrogyria * Polymicrogyria * Thick brain cortex * Brain abnormalities * Absent septum pallucidum * Hypoplastic septum pallucidum * Absent corpus callosum * Hypoplastic corpus callosum * Cerebellar malformation * Occipital encephalocele * Dandy-Walker malformation * Hydrocephalus * Ventriculomegaly * Cataract * Corneal clouding * Peters anomaly * Narrow iridocorneal angle * Glaucoma * Retinal malformations * Small eye * Retrolental masses * Hyperplastic primary vitreous * Coloboma * Retinal detachment * Retinal dysplasia * Congenital muscular dystrophy * Genital anomalies in males * Seizures

Diagnosis

This medical information about signs and symptoms for HARD syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of HARD syndrome signs or HARD syndrome symptoms. Furthermore, signs and symptoms of HARD 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 HARD syndrome symptoms.