COFFIN-LOWRY SYNDROME

Coffin Syndrome; Coffin Lowry Disease; CLS

Coffin-Lowry syndrome (CLS) is a condition that affects many parts of the body. The signs and symptoms are usually more severe in males than in females, although the features of this disorder range from very mild to severe in affected females.

Males with CLS typically have severe to profound intellectual disability and delayed development. Affected females may be cognitively normal, or they may have intellectual disability ranging from mild to profound. Beginning in childhood or adolescence, some people with this condition experience brief episodes of collapse when excited or startled by a loud noise. These attacks are called stimulus-induced drop episodes (SIDEs).

This condition is an inherited condition caused by mutations in the RSK2 and RPS6KA3 gene.

Diagnostic testing:

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  Molecular testing of the RSK2 and RPS6KA3, the only genes yet published to be associated with CLS, can be used to confirm but not to rule out the diagnosis of typical CLS; and

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  Sequence analysis identifies mutations in approximately 35%-40% of probands.

Physical findings: Individuals with CLS may present with:

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  Distinctive facial features including a prominent forehead, widely spaced and downward slanting eyes, and short nose with a wide tip and a wide mouth with full lips;

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  Short stature;

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  An unusually small head (microcephaly);

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  Soft hands with short, tapered fingers;

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  Progressive abnormal curvature of the spine (kyphoscoliosis);

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  Unusual prominence of the breast bone;

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  Dental abnormalities; and

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  Heart and kidney involvement.

ICD-9: 759.89

The prognosis of people with CLS varies depending on the severity of symptoms and signs. Cardiac abnormalities may be present and may contribute to premature death.

There is no cure and no standard course of treatment for CLS. Benzodiazepine medication is sometimes prescribed. Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the impairment, as well as the related functional limitations;

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  Genetic testing for mutations in the RSK2 and RPS6KA3 gene; and

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  Developmental assessment or psychological testing to address allegations of mental impairments may be warranted.

Suggested Listings for Evaluation:

REMARKS

Listing level physical or cognitive severity must be documented; the diagnosis or laboratory testing alone does not meet listing severity.