Program Operations Manual System (POMS)
TN 49 (10-21)
COMPASSIONATE ALLOWANCES INFORMATION
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ROBERTS
SYNDROME |
ALTERNATE NAMES
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Roberts Disease; Appelt-Gerken-Lenz Syndrome; Appelt-Gerken-Lenz Disease; Hypomelia
Hypotrichosis Facial Hemangioma Syndrome; Hypomelia Hypotrichosis Facial Hemangioma
Disease; Pseudothaliodomide Syndrome; Roberts SC Phocomelia Disease; Tetraphocomelia-Cleft-Palate
Syndrome; SC Syndrome
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DESCRIPTION
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Roberts Syndrome (RS) is a genetic disorder caused by mutations in the ESCO2 gene, resulting in abnormal chromosome separation during cell division. RS is characterized
by low birth weight and subsequent growth failure, and developmental abnormalities.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: Molecular genetic testing for ESCO2 gene mutations, resulting in absence of functional
ESCO2 protein.
Physical findings:
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Symmetric, shortened arm and leg bones (hypomelia), or sometimes hands and feet located
very close to the body (phocomelia);
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Microcephaly (abnormally small head);
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Micrognathia (undersized lower jaw);
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Encephalocele (protrusion of the brain from the skull); and
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Heart, kidney, or genital abnormalities.
ICD-9: 755
ICD-10: Q74
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PROGRESSION
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There is variation in the severity of clinical manifestations, and the most severe
forms of RS are often stillborn or die shortly after birth. The less severely affected
may live to adulthood. Individuals with the milder form of RS may have normal intellectual
and social functioning abilities. Mortality in the newborn period or early childhood
is due to cardiac or renal malformations.
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TREATMENT
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The treatment and management of RS is symptomatic, such as corrective surgery for
cleft palate and limb deformities; prostheses, and developmental services including
speech and language if cleft deformities are present. School age children require
individualized and flexible instructional curricula. Standard treatment is needed
for individuals with cardiac defects and renal abnormalities.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical examination that describes diagnostic features of the impairment;
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Molecular genetic testing for ESCO2 gene mutations; and
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Developmental assessment or psychological testing.
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Suggested Listings for
Evaluation: |
DETERMINATION
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LISTING
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REMARKS
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Meets |
1.18
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100.05
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101.18
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112.02
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Equals |
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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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