KLEEFSTRA
SYNDROME |
ALTERNATE NAMES
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9q34 Deletion Syndrome; Chromosome 9q34.3 Deletion Syndrome; 9q34.3 Microdeletion
Syndrome; 9q Subtelomeric Deletion Syndrome; 9qSTDS; 9q34.3 Terminal Deletion Syndrome
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DESCRIPTION
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Kleefstra syndrome is a disorder caused by terminal microdeletion of chromosome 9q34 involving loss
of the EHMT1 gene, or by mutations that disable the function of the EHMT1 gene. Kleefstra
syndrome involves many parts of the body including the brain, muscles, and bones.
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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 Kleefstra syndrome is made by:
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Imaging studies of structural brain defects (e.g. microcephaly and brachycephaly);
and
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Is confirmed by the finding of abnormal EHMT1 sequencing.
Physical findings: Children with Kleefstra syndrome have recognizable facial stigmata. Other findings
can include:
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Developmental delay and intellectual disability;
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Severely limited or absent speech;
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Hypotonia (weak muscle tone);
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Eyebrows that grow together in the middle (synophrys);
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Widely spaced eyes (hypertelorism);
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Sunken appearance of the middle of the face (midface hypoplasia);
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Nostrils that open to the front rather than downward (anteverted nares);
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Protruding jaw (prognathism);
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Eolled out (everted) lips;
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Large tongue (macroglossia);
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Unusually wide and shortened (brachycephaly) or very small (microcephaly) skull;
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Urogenital/renal abnormalities;
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Tendency to develop severe respiratory infections.
ICD-9: 758.33
ICD-10: Q93.88
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PROGRESSION
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Onset is congenital. Children with Kleefstra syndrome may exhibit features of autism
or related developmental disorders affecting communication and social interaction.
In adolescence, they may develop a general loss of interest and enthusiasm (apathy)
or extreme unresponsiveness (catatonia).
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TREATMENT
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Treatment of Kleefstra syndrome is supportive, and requires ongoing routine care by
a multidisciplinary team specializing in the care of children or adults with intellectual
disability. Referral to age-appropriate early childhood intervention program, special
education, or vocational training. Therapies include speech/language therapy, physical
and occupational therapy, and sensory integration. Extreme behavior problems may require
treatment by a psychiatrist. Neurologic, cardiac, renal, urologic and other medical
issues require standard monitoring and treatment. Medical follow-up is life-long.
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SUGGESTED
PROGRAMMATIC ASSESSMENT* |
Suggested MER for Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
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Genetic testing for microdeletions at chromosome 9q34.3 or pathogenic mutations in
the EHMT1 gene; and
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Developmental assessment or psychological testing to address allegations of mental
impairments may be warranted.
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Suggested Listings for
Evaluation: |
DETERMINATION
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LISTING
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REMARKS
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Meets |
104.06
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Listing-level severity must be documented; and evaluated under the most affected body
systems.
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111.09
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Listing-level severity must be documented; and evaluated under the most affected body
systems.
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112.02
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Listing-level severity must be documented; and evaluated under the most affected body
systems.
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112.05
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Listing-level severity must be documented; and evaluated under the most affected body
systems.
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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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