Program Operations Manual System (POMS)
TN 53 (08-22)
DI 23022.481 Pfeiffer Syndrome - Types II and III
COMPASSIONATE ALLOWANCES INFORMATION
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PFEIFFER SYNDROME - TYPES II AND III
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ALTERNATE
NAMES
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Acrocephalosyndactyly, type V; ACSV Syndrome; Craniofacial-Skeletal-Dermatologic Dysplasia;
Noack Syndrome; Pfeiffer Type Acrocephalosyndactyly
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DESCRIPTION
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Pfeiffer
Syndrome is a rare genetic condition of early childhood in which the bones, primarily in the
skull, fuse prematurely.
There are three subtypes of Pfeiffer Syndrome. In Types II and III, fusion of skull
bones prevents normal brain growth, resulting in severe intellectual and neurological
impairment. Pfeiffer Syndrome Type I is significantly milder, and usually does not
affect intellectual development or lifespan.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING/ICD-10-CM
CODING
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Diagnostic testing: Clinical diagnosis is based on presence of the physical characteristics distinct
to Pfeiffer Syndrome and can be confirmed through molecular genetic testing showing
mutation of the FGFR2 gene.
Physical findings: Symptoms of Pfeiffer Syndrome Types II and III include:
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Elongated skull structure (craniosynostosis);
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Tri-lobed "cloverleaf" shaped skull (Type II only);
ICD-9: 755.55
ICD-10: Q87.0
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PROGRESSION
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The outlook for children with Pfeiffer Syndrome Types II and III is generally poor.
Even with treatment, early mortality is common due to breathing problems caused by
malformation of the skull.
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TREATMENT
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There is no cure for Pfeiffer Syndrome. Treatment is symptomatic and supportive.
Surgical intervention in early infancy to correct the shape of the skull, along with
physical therapy, can improve long-term outcomes and quality of life. However, all
individuals with Pfeiffer Syndrome Types II and III require lifelong treatment and
assistance with activities of daily living.
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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 that diagnostic features of the impairment;
and
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Laboratory tests confirming mutation of the FGFR2 gene.
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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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110.08 A & B
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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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