PEHO syndrome
Overview
A rare birth disorder characterized by progressive brain disease, facial anomalies and eye problems
Symptoms
* Severely reduced muscle tone * Increased reflexes * Large ear * Seizures * Severe mental retardation * Mouth held open * Short nose * Small head * Abnormal cerebellum development * Optic atrophy * Hypsarrhythmia * Edema * Brain degeneration * Swollen hands * Protruding lower earlobes * Curved upper lip * Excessive infant drowsiness * Poor infant feeding * Impaired vision
Diagnosis
* Eye Tests * Vision Tests
Resources
PEHO syndrome: Another name for Encephalopathy progressive - optic atrophy