Distal 18q Deletion

What is Distal 18q Deletion?

It 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 changes cause Distal 18q Deletion?

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 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 Distal 18q Deletion?

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 a 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 does someone get tested for Distal 18q Deletion?

The initial diagnosis of Distal 18q Deletion syndrome can begin with facial genetic analysis screening, as offered by FDNA Telehealth, which can identify the key markers of the syndrome and outline the need for further testing. If further testing is recommended what will follow is a consultation with a genetic counselor and then a geneticist. These consultations will usually involve a comprehensive review of the patient’s medical history, a generational family history documenting health issues and genetic conditions, and a detailed physical examination. Based on this clinical consultation, the options and recommendations for genetic testing will be shared with the individual’s parents/guardians and consent will be sought for further testing. This process may take place over the course of several clinic visits. Genetic testing will involve a blood sample. Results from the testing will then be sent back to the geneticist who will explain the resulting report in detail with the parents/guardians of the individual being tested.

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