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Coffin-Lowry Syndrome

Coffin-Lowry Syndrome 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.

Coffin-Lowry Syndrome 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.

Coffin-Lowry Syndrome 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.

Coffin-Lowry Syndrome 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.

Coffin-Lowry Syndrome 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.

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