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

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.

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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  Pointed nose;

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  Narrow face;

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  Malformed ears;

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  High arched roof of the mouth (palate);

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  Tooth malformation;

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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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  Developmental delays.

ICD-9: 759.89

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.

Treatment for SCKL is symptom specific. Affected school age children may benefit from early intervention programs and special education.

SUGGESTED PROGRAMMATIC ASSESSMENT

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).

Suggested Listings for Evaluation:

REMARKS