Desanto-Shinawi syndrome

What is Desanto-Shinawi syndrome?

This rare disease is a neuro-developmental disorder first identified in 2016 in 6 families.

The syndrome presents with a number of distinct facial features and behavioral issues.

Generally the main symptoms are identified in infancy and childhood, and include global developmental delay, low muscle tone and feeding problems.

What gene changes cause Desanto-Shinawi syndrome?

Mutations in the WAC gene are responsible for the syndrome. It is inherited in an autosomal dominant pattern.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Desanto-Shinawi syndrome?

One of the main and earliest identified symptoms of the syndrome is global developmental delay, which is usually noticed in childhood.

Hypotonia (low muscle tone) and feeding problems are also often common in infancy and early childhood.

Unique facial features of the syndrome include a short neck, broad forehead, deep set eyes, thick eyebrows, strabismus (cross eyes), widely spaced eyes, a depressed nasal bridge, and mild eye abnormalities including astigmatism.

Hirsutism, excessive hair growth has also been related to the syndrome.

Behavioral issues related to the syndrome include anxiety, ADD, ADHD and autism spectrum disorder.

How does someone get tested for Desanto-Shinawi syndrome?

The initial testing for Desanto-Shinawi 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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