Program Operations Manual System (POMS)
TN 35 (08-20)
COMPASSIONATE ALLOWANCES INFORMATION
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MARSHALL-SMITH SYNDROME
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ALTERNATE NAMES
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MSS |
DESCRIPTION
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Marshall-Smith Syndrome (MSS) is a genetic disorder characterized by accelerated skeletal maturation, failure to
thrive, respiratory difficulties, dysmorphic facial features, and moderate to severe
developmental delay with absent or limited speech and unusual behavior. The exact
cause of this disorder is unknown, and no specific chromosomal abnormalities have
been identified. This condition is
not the same as Marshall syndrome, which is a different genetic syndrome.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: Imaging studies showing accelerated bone maturation, or minor brain abnormalities
such as hypoplasia of the corpus callosum.
Physical
findings: People with MSS may present with:
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Developmental delay or intellectual disability;
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Unusual facies with wide and prominent forehead (frontal bossing); protruding and
widely spaced eyes (proptosis);
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Micrognathia (abnormally small jaws).
ICD-9:
759.89
ICD-10: C87.0
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PROGRESSION
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MSS abnormalities usually begin before birth. Symptoms in children vary in degrees
of severity. Mortality is associated with respiratory complications caused by structural
problems in the respiratory tract and complications from pneumonia. Children surviving
infancy may have developmental delays and intellectual impairment.
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TREATMENT
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There is no cure for MSS. Treatment is symptom specific and supportive. Children with
MSS are treated with aggressive management of early respiratory and feeding difficulties.
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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;
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Imaging of the skeleton showing accelerated osseous maturation; and
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Brain imaging showing minor abnormalities such as hypoplasia or absence of the corpus
callosum.
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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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100.05
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Listing-level severity must be documented; may also need to evaluate under the Musculoskeletal,
Respiratory, and Mental body systems.
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103.06
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Listing-level severity must be documented; may also need to evaluate under the Musculoskeletal,
Respiratory, and Mental body systems.
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Equals
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2.09
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Refer to SSR 98-1p.
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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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