Program Operations Manual System (POMS)
TN 34 (08-20)
COMPASSIONATE ALLOWANCES INFORMATION
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COFFIN-LOWRY SYNDROME
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ALTERNATE NAMES
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Coffin Syndrome; Coffin Lowry Disease; CLS
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DESCRIPTION
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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.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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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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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
ICD-10: Q89.8
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PROGRESSION
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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.
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TREATMENT
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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.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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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.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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12.05
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Listing level physical or cognitive severity must be documented; the diagnosis or
laboratory testing alone does not meet listing severity.
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112.05
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Listing level physical or cognitive severity must be documented; the diagnosis or
laboratory testing alone does not meet listing severity.
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Equals
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110.08
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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