Emanuel syndrome

What is Emanuel syndrome?

This rare disease is a chromosomal condition, believed to have been diagnosed in more than 100 people to date.

Some of its symptoms may be life threatening in infancy. Severe to profound intellectual disability is one of the most prominent symptoms of the syndrome.

What gene changes cause Emanuel syndrome?

The syndrome is caused by extra genetic material of part of chromosomes 11 and 22, product of unbalanced translocation.

Parents are carriers of balanced translocations between chromosomes 11 and 22 without loss or gain of genetic material, but in meiosis (generation of gametes or reproductive cells) these translocations lead to unbalanced cells, which have gain of genetic material from chromosomes 11 and 22.

What are the main symptoms of Emanuel syndrome?

In infancy the main symptoms include weak muscle tone and failure to thrive due to feeding difficulties.

Congenital heart defects and or very small kidneys in an individual can be life threatening to an infant.

Severe developmental delay and profound intellectual disability are characteristic of the syndrome.

Physical features of the condition include a very small head and jaw, ear issues. Over 50% of affected individuals are born with a cleft or elevated palate.

How does someone get tested for Emanuel syndrome?

The initial testing for Emanuel 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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