Coffin-Lowry Syndrome

Below you will find more information about Coffin-Lowry Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Coffin-Lowry Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Coffin-Lowry Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Coffin-Lowry Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Coffin-Lowry syndrome is an uncommon genetic condition linked with delayed development and mental retardation. It is also distinguished by skeletal and craniofacial abnormalities. Males are typically more extremely affected compared to females. The syndrome is inherited in a pattern known as X-linked.

Diagnosis

Diagnosing may include routine lab tests that incorporate CBC, chemistry panel, sedimentation rate, thyroid profile, etc. Chromosomal analysis aids in detecting other underlying disorders. If there is a presence of skull deformity, skull x-ray is performed.

Treatment

There has been no standard treatment course and no cure for the syndrome. Treatment is supportive and symptomatic, and can also include speech therapy, educational services, and physical therapy.

Symptoms and Signs

The most common symptoms of this disorder include widely-spaced eyes, undersized upper jaw bone, eyelid folds that are downslanting, and unusually prominent brow. Less typical symptoms include seizures, thick calvarium, small head, hypoplastic sinuses, and dilated lateral ventricles.

Causes

Coffin-Lowry syndrome is caused by gene mutations of the Ribosomal Protein S6 Kinase. The gene is situated on the X chromosome's short arm, and this produces the protein involved in signaling cells and plays a major role in central nervous system. The mutation disturbs the protein's function leading to the syndrome.

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