Peho syndrome

What is Peho syndrome?

It is a rare genetic syndrome, also referred to as a neurodegenerative disorder. It has mainly been identified in families in Finland, with a few cases reported in a few other European countries. Life expectancy for individuals with the condition is less than 15 years.

What gene changes cause Peho syndrome?

The cause of the syndrome has been linked to mutations in the ZNHIT3 gene. The syndrome is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Peho syndrome?

The main symptoms of the syndrome are usually recognizable in the newborn period. These include low muscle tone, feeding difficulties, excessive drowsiness and movements that are described as abnormal. Spasms and seizures are also common throughout the first year of life.

Other symptoms include vision loss, eye movements that are abnormal and optic atrophy.

Developmental delay is common with the syndrome, along with severe intellectual disability.

Unique facial and physical features of the syndrome include a small head, edmea, tapered fingers, narrow forehead, full cheeks, an open mouth, prominent earlobes and a short nose with large nostrils

How does someone get tested for Peho syndrome?

The initial testing for Peho syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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