Program Operations Manual System (POMS)
TN 54 (09-22)
COMPASSIONATE ALLOWANCES INFORMATION
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RENPENNING SYNDROME
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ALTERNATE NAMES
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Galobi-Ito-Halls Syndrome; Sutherland-HaanSyndrome; RENS1; Hamel Cerebropalatocardiac
Syndrome; Porteous Syndrome; X-Linked Intellectual Deficit, Renpenning type
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DESCRIPTION
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Renpenning syndrome is a disorder the almost exclusively affects males causing developmental delay, moderate
to severe intellectual disability, and distinctive physical features. It is caused
by a mutation on the PQBP1 gene at the chromosome locus Xp11.23. This gene provides
instructions to make polyglutamine-binding protein. This protein plays a role in processing
and transporting RNA and is needed for normal brain development.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: Genetic testing revealing abnormality in PQBP1 gene is needed to diagnose Renpenning
syndrome.
Physical findings: Characteristic physical findings for Renpenning syndrome include:
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Microcephaly (abnormally small head size);
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Outside corners of eyes that slant up (upslanting palpebral fissures);
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Long bulbous nose with a low-hanging separation between the nostrils (overhanging
columella);
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Shortened philtrum (space between the base of the nose and mouth);
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Atrophy of skeletal muscles.
About 20 percent of individuals with this disorder also have other features, which
may include:
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Coloboma (malformation of the eye);
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Cleft palate (opening in the roof of the mouth);
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ICD-9: 758.9
ICD-10: Q87.5
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PROGRESSION
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By age 3, the individuals are noted to have regression in mental ability and physical
changes. The head stops growing, there is severe muscle wasting, and the face elongates.
The individuals are often described as cachectic, and mean IQ is around 30.
Life expectancy is not significantly shortened, though there are some case reports
of some individuals dying at an early age. The intellectual disabilities do not improve.
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TREATMENT
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There is currently no cure for Renpenning syndrome.
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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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Positive genetic testing documenting abnormality in PQBP1 gene; and
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Neuropsychological testing documenting intellectual disability.
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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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111.02
112.05
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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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