Coffin-Lowry Syndrome: Causes, Symptoms, Diagnosis, Treatment

What Is Coffin-Lowry Syndrome?

Coffin–Lowry Syndrome as stated is a genetic medical condition, which is X-linked dominant and causes severe mental retardation along with severe growth abnormalities, cardiac issues, kyphoscoliosis, as well as hearing and visual disorders. This condition is characterized by intellectual disability, short stature, musculoskeletal abnormalities, and sudden onset of recurrent muscle weakness. Symptoms are usually more severe in males than females.

What Are The Causes Of Coffin-Lowry Syndrome?

Majority of the people suffering from Coffin-Lowry Syndrome have a mutation in the RPS6KA3 gene, which is present in the short arm of chromosome X. The function of this gene is to control production of RSK2 protein. This protein controls activities of other genes, which is extremely essential for nerve cell survival. It also plays an important role in hearing and memory of a person. The mutation in RPS6KA3 gene results in a deficiency in the production of the RSK2 protein causing Coffin–Lowry Syndrome.

What Are The Symptoms Of Coffin-Lowry Syndrome?

Symptoms Of Coffin–Lowry Syndrome Include:

  • Severe mental retardation
  • Abnormalities of growth
  • Presence of microcephaly
  • Cardiac abnormalities
  • Progressive kyphoscoliosis
  • Visual impairment
  • Hearing disorder.

How Is Coffin-Lowry Syndrome Diagnosed?

The diagnosis of Coffin–Lowry Syndrome is made based on the signs and symptoms of the disease. Skeletal x-rays are done to identify other characteristics of this disorder. The x-ray findings may reveal inadequate skeletal maturity, increased skull thickness, abnormally large sinuses, narrowed pelvis, and other abnormalities of the musculoskeletal system. Genetic testing also to look for mutation in the RPS6KA3 also confirms the diagnosis of Coffin–Lowry Syndrome.

What Are The Treatments For Coffin-Lowry Syndrome?

As of now, there is no clear cut cure for Coffin–Lowry Syndrome and treatment is aimed at controlling symptoms of this disease and providing measures to reduce disability. Any cardiac abnormality needs to be identified and treated at its earliest so close cardiac monitoring is required for people with Coffin–Lowry Syndrome. Routine x-ray examinations should also be done to check on the status of the spine. If spinal abnormalities become too visible then a corset may be required.

Apart from this, regular neurological examinations should be carried out to check on the growth status of the individual.

Regular ophthalmologic and auditory evaluations should also be done to check on the status of vision and hearing and treat any abnormalities if present. If required, hearing aids can also be given to help with hearing impairment.

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Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:August 21, 2019

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