PEHO-like syndrome

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

Also known as: PEHO syndrome-like, peho-like syndrome, progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome, PEHOL

0 clinical trials for this condition and its sub-types, 0 tagged with PEHO-like syndrome itself.