Feingold syndrome

What is Feingold syndrome?

This rare disease is a genetic syndrome that affects multiple parts of the body.

There are two types of the condition:

Type 1 and Type 2, each with their own genetic cause. Type 1 is the more common form of the syndrome.

What gene changes cause Feingold syndrome?

Type 1 is caused by changes to the MYCN gene.

Type 2 is caused by deletions to a region of Chromosome 13 which includes the MIR17HG gene.

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 Feingold syndrome?

Main symptoms of the syndrome include a number of unique physical characteristics relating to the digits of the hand and feet. These include a shortening of the 2nd and 5th fingers, a curving inward of the 5th fingered, underdeveloped thumbs and a fusion of the 2nd/3rd or 4th/5th toes.

Other physical features of the syndrome include a very small head and jaw. A narrow opening of the eyelids are also common. Hearing loss and a short stature might also be features of some individuals.

Individuals with the syndrome are often also diagnosed with mild to moderate learning difficulties.

How does someone get tested for Feingold syndrome?

The initial testing for Feingold 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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