PEHO-like syndrome

PEHO-like syndrome is a rare genetic neurological condition. It is characterized by progressive encephalopathy, early-onset seizures that have a hypsarrhythmic pattern, and distinctive facial and limb features. These features include craniofacial differences such as a narrow forehead, short nose, prominent ears, open mouth, and small lower jaw (micrognathia). Other noted features include the presence of edema (swelling) in the face and limbs, severe hypotonia (low muscle tone), growth failure, poor visual responsiveness, and tapering fingers. The condition is marked by an early halt in psychomotor development and evolving microcephaly, which means that head growth slows down. The diagnosis is made despite the absence of certain neuro-ophthalmic or neuroradiologic findings.

People with PEHO-like syndrome may experience early-onset seizures with a characteristic hypsarrhythmia pattern, severe hypotonia, and developmental delays. They can also have swelling in the face and limbs, poor visual responses, growth failure, and tapering fingers. Additionally, the syndrome includes craniofacial dysmorphism with features such as a narrow forehead, short nose, prominent ears, an open mouth, and micrognathia, as well as an evolving microcephaly.

PEHO-like syndrome is caused by genetic factors. Variants or mutations in the CCDC88A gene have been associated with this condition. Being a genetic disorder, the syndrome is inherited, although detailed inheritance patterns and risk factors were not specified in the source material.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.