SNIJDERS BLOK-CAMPEAU SYNDROME
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ALTERNATE NAMES
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CDHD3 Related Syndrome; IDDMSF; Intellectual Developmental Disorder with Macrocephaly,
Speech Delay, and Dysmorphic Facies; SNIBCP
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DESCRIPTION
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Snijders Blok-Campeau syndrome (SNIBCPS) is a genetic disorder characterized by global developmental delay, impaired intellectual
development, delayed speech acquisition, hypotonia, behavioral disorders including
autism spectrum disorder (ASD), and distinctive facial features. This syndrome is
caused by mutations in the CHD3 gene.
Affected individuals tend to have expressive language deficits. While some individuals
with SNIBCPS develop limited language, others acquire only a few words or never speak.
If speech occurs, it usually develops after age 2.
Most individuals with SNIBCPS have vision problems, including farsightedness or eyes
that do not look in the same direction.
About half of individuals with SNIBCPS have brain abnormalities, such as enlarged
spaces in the brain where cerebrospinal fluid (CSF) accumulates. Less commonly, affected
individuals are born with a hole between the two upper chambers of the heart (atrial
septal defect) or another problem with the heart's structure or function (congenital
heart disease).
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: The diagnosis of SNIBCPS is based on:
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Clinical examinations; and
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Genetic testing for mutation of the CHD3 gene.
Physical findings: The physical signs and symptoms of SNIBCPS include:
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Dysarthria (difficulty speaking);
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Speech apraxia (difficulty producing the sequences of sounds and syllables needed
to form words);
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Oromotor dysfunction (problems coordinating movements of the mouth and tongue);
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Macrocephaly (an overly large head);
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Hypertelorism (an increased distance between two body parts);
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Hypotonia (decreased muscle tone);
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Joint laxity (flexible joints that have a wide range of motion);
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Farsightedness (hyperopia);
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Strabismus (misalignment of the eyes);
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Autistic behaviors that affect communication and social interaction.
ICD-9: 755.5; 758.9
ICD-10: Q87.0
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PROGRESSION
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The physical features of SNIBCPS may be present at birth or may develop in the first
few years of life. Developmental delays are present in childhood with variable signs
and symptoms. For school age children and adolescents, speech disorders often present
with the child’s academic performance.
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TREATMENT
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There is no curative treatment for this syndrome. Treatment is symptom specific and
supportive. Treatment includes the management of any complications through a multidisciplinary
team of medical specialists, neurologists, developmental pediatricians, and therapists
(speech therapy, physical therapy, occupational therapy, etc.). Interventions may
include intensive therapy, surgeries, and medication (i.e., seizure control) as warranted.
School age individuals may benefit from individualized education plans (IEPs) and
age-appropriate early childhood intervention programs or special education.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and physical examination that describes the diagnostic features of
the impairment; and
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Genetic sequencing tests confirming mutation of the CHD3 gene.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTINGS
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REMARKS
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Meets
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110.08 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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