Program Operations Manual System (POMS)
TN 57 (08-23)
COMPASSIONATE ALLOWANCE INFORMATION
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FOXG1 SYNDROME
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ALTERNATE NAMES
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FOXG1-related Disorder; FOXG1-related encephalopathy; FOXG1-related epileptic-dyskinetic
encephalopathy
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DESCRIPTION
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FOXG1 Syndrome is a genetic condition that severely impairs growth of the brain and
body in infants. Brain malformation associated with FOXG1 Syndrome follows a distinct
pattern in which the corpus callosum (the tissue that connects the right and left
hemispheres) is unusually thin, along with reduced formation of brain folds and white
matter.
Children affected by FOXG1 Syndrome exhibit small stature and microcephaly. The effects
on the brain cause a wide array of neurological and intellectual problems, including
epilepsy, sleep disturbances, feeding trouble, and behavioral issues.
The condition is caused by the mutation or complete absence of the FOXG1 gene, which is critical to brain development.
FOXG1 Syndrome was previously thought to be a variant of Rett Syndrome; however, FOXG1
Syndrome affects males and females, while Rett Syndrome is observed only in females.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: A suspected diagnosis of FOXG1 Syndrome can be confirmed through genetic sequencing
tests on the patient’s blood.
Physical findings: Physical signs and symptoms of FOXG1 Syndrome include:
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Small stature and head size;
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Cortical vision impairment;
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Global developmental delays;
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Involuntary movements of the extremities.
ICD-9: 330.8
ICD-10: F84.8
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PROGRESSION
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The developmental disabilities of FOXG1 Syndrome are debilitating from early infancy
and usually do not improve. Most children with FOXG1 Syndrome never learn to walk
or speak and require lifelong help performing basic tasks such as eating and using
the toilet.
As FOXG1 Syndrome is a recently identified and very rare disease, conclusive data
about its effect on life expectancy is not yet available.
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TREATMENT
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There is no cure for FOXG1 Syndrome. Treatment is supportive; lifelong care and assistance
with activities of daily living are required.
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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
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Genetic sequencing tests confirming mutation of the FOXG1 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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11.02
11.17
12.05
110.08
111.02
111.17
112.02
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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