Coffin-Lowry syndrome (CLS)

What is Coffin-Lowry syndrome (CLS)?

This rare disease exhibits more severe symptoms in males than females due to the way in which it is inherited. Females with the syndrome may display none to very few or very mild symptoms.

Severe mental and intellectual disability are characteristic of the syndrome. Other defining features include issues related to growth, heart problems, and visual and hearing impairments.

The condition is believed to occur in approximately 1 in 40-50,000 people, making it fairly rare.

What gene changes cause Coffin-Lowry syndrome (CLS)?

Mutations in the RPS6KA3 gene are responsible for the syndrome.

The condition is inherited in an X-linked dominant pattern which explains why symptoms are more severe in males than females.

With syndromes inherited in an X-linked dominant pattern, a mutation in just one of the copies of the gene, causes the syndrome. This can be in one of the female X chromosomes, and in the one X chromosomes males have. Males tend to have more severe symptoms than females.

What are the main symptoms of Coffin-Lowry syndrome (CLS)?

For males intellectual disability related to the syndrome may be moderate to severe. In females it is usually non existant or very mild.

Unique facial features of the syndrome include a prominent forehead, widely spaced eyes, downward slanting eyes, a short nose, a wide nasal tip, a wide mouth and full lips.

Other physical features of the condition include soft, thin or tapered fingers, a short stature,a very small head (microcephaly) and progressve curvature of the spine.

Another unique symptom of the diseases is collapsing after being startled by a loud or sudden noise. This is known as SIDES.

How does someone get tested for Coffin-Lowry syndrome (CLS)?

The initial diagnosis of Coffin-Lowry 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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