TN 16 (03-18)
DI 23022.977 Phelan-Mcdermid Syndrome
COMPASSIONATE ALLOWANCE INFORMATION
PHELAN-MCDERMID SYNDROME
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ALTERNATE NAMES
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Phelan-McDermid Disease; Deletion 22q13 Syndrome; 22q13 Deletion Syndrome; Chromosome
22q13.3 Syndrome; Monosomy 22q13.
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DESCRIPTION
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Phelan-McDermid Syndrome is a rare genetic disorder that involves a deletion of 22q13 or a mutation of the
SHANK3 gene. The syndrome is generally characterized by neonatal hypotonia (reduced
muscle tone), global developmental delay, absent to severely delayed speech, disproportionately
large hands/feet, dysplastic toenails, abnormal growth, and decreased perspiration.
The signs and symptoms vary widely from person to person. Some children have specific
behavior characteristics including mouthing or chewing non-food items, decreased pain
perception, and an autistic-like affect.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING
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Diagnostic testing: Molecular genetic testing (usually chromosome microarray analysis, or CMA), or fluorescent
in situ hybridization (FISH) test analysis documenting the chromosome 22q13.3 deletion
or sequencing documenting a mutation of SHANK3.
Physical findings: (see above)
ICD-9: 758.39
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ONSET AND PROGRESSION
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Individuals with Phelan-McDermid syndrome generally have life-long complications associated
with this disorder with no apparent life-threatening organic malformations. Individuals
surviving to adulthood may not be able to function independently and may require supportive
services.
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TREATMENT
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There is no cure for this disorder. Treatment is supportive and symptom specific.
Physical and occupational therapies are utilized to improve adaptive functioning and
strengthen muscles; and speech/language therapy is used to address delayed speech
and language development. School age children require individualized and flexible
instructional criteria.
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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
and laboratory findings are needed to confirm the diagnosis.
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Developmental assessment or psychological testing to address allegations of mental
impairment 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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Meets Listing
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12.05
12.10
112.05
112.10
112.14
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Medical Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings
suggested to evaluate the claim. However, the decision to allow or deny the claim
rests with the adjudicator.