Distal 18q Deletion Syndrome

What is Distal 18q Deletion syndrome?

Distal 18q Deletion syndrome is a rare genetic condition that affects multiple parts of the body including the face, nervous system, and the heart and kidneys.

The syndrome occurs in 1 in 55,000 live births in the US.

What gene change causes Distal 18q Deletion syndrome?

The syndrome is caused by the deletion of a piece of the long (q) arm of chromosome 18. Distal refers to the fact that the deletion is near one end of the chromosome. 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 on to 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 Distal 18q Deletion syndrome?

The syndrome presents with a variety of symptoms affecting multiple systems and parts of the body.

Disorders relating to mood and behavior are symptoms of the syndrome; including autism spectrum disorder. The syndrome triggers impaired myelin production in affected individuals, affecting the nervous system and leading to developmental delay and intellectual disability.

Physical features associated with the syndrome include short stature, narrow ear canals leading to hearing loss, a clubfoot, rocker-bottom foot (where the soles of the foot are rounded outward), issues with eye movement, deep-set eyes, a wide mouth, cleft palate, prominent ears and midface hypoplasia (the middle of the face appears sunken in).

Other health issues include an underactive thyroid, congenital heart defects, kidney problems, genital issues, and skin concerns.

How is it diagnosed?

To find out if someone has a diagnosis of Distal 18q Deletion syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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