SECKEL
SYNDROME |
ALTERNATE NAMES
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Seckel Type Dwarfism; Seckel Type Premordial Dwarfism; Microcephalic Primordial Dwarfism
Seckel Type; Seckel Syndrome Types 1-4; Nanocephalic Dwarfism; Seckel syndrome type 1;
Seckel syndrome type 2; Seckel syndrome type 3
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DESCRIPTION
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Seckel syndrome (SCKL) is a rare genetic disorder characterized by growth delays prior to birth (intrauterine
growth retardation), and continuing growth delays after birth (postnatal). Seckel
syndrome is inherited in an autosomal recessive fashion, and has been linked to genetic
mutations on four different chromosomes.
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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 SCKL is made by physical examination and confirmed by genetic testing.
Physical
findings: The physical findings of SCKL include:
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Small for gestational age at birth;
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Extremely small but proportionate stature (dwarfism);
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Small head size (microcephaly);
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High arched roof of the mouth (palate);
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Bony abnormalities such as unusually small jaw (micrognathia);
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Permanent fixation of the fifth fingers in a bent position (clinodactyly);
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Malformation (dysplasia) of the hips;
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Dislocation of a bone in the forearm (radial dislocation); and,
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ICD-9: 759.89
ICD-10: Q87.1
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PROGRESSION
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Developmental delays and intellectual disability tend to be severe. Hematological
abnormalities, such as anemia, pancytopenia, and acute myeloid leukemia, are found
in approximately 15 – 20% of children with this disorder.
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TREATMENT
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Treatment for SCKL is symptom specific. Affected school age children may benefit from
early intervention programs and special education.
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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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Laboratory tests showing results of genetic testing (chromosomal analysis).
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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 |
12.05 |
Listing level cognitive findings must be documented; diagnosis of SCKL or laboratory
testing results alone does not meet listing severity.
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100.02
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Listing level growth or musculoskeletal findings must be documented; diagnosis of
SCKL or laboratory testing results alone does not meet listing severity.
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112.05
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Listing level cognitive findings must be documented; diagnosis of SCKL or laboratory
testing results alone does not meet listing severity.
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112.12 |
Listing level cognitive findings must be documented; diagnosis of SCKL or laboratory
testing results alone does not meet listing severity.
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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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