Costello syndrome (CSTLO)

What is Costello syndrome (CSTLO)?

Costello syndrome is a rare genetic disorder thought to affect just 200-300 people worldwide, to date.

Individuals with the syndrome are at higher risk for non cancerous and cancerous tumors including papilloma's and a form of childhood cancer known as rhabdomyosarcoma.

A characteristic coarse facies, as well as facial warts are constant features with this rare disease. As is loose skin on different parts of the body.

What gene changes cause Costello syndrome (CSTLO)?

Spontaneous mutations on the HRAS gene cause the majority of Costello syndrome cases.

The syndrome is not inherited. Though it has been suggested that autosomal recessive inheritance, autosomal dominant with somatic mutations are also responsible.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

What are the main symptoms of Costello syndrome (CSTLO)?

The main symptoms of the syndrome are delayed development and intellectual disability.

Failure to thrive, a short stature and congenital heart defects are also characteristic of the disease.

Physical features of the syndrome include distinct loose folds on skin on the hands and feet especially, a large mouth, thick lips, short stature, skeletal abnormalities, dental problems and issues with vision. Hypotonia or low muscle tone is also common.

How does someone get tested for Costello syndrome (CSTLO)?

The initial testing for Costello 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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