DI 23022.296:
Seckel Syndrome
Effective Dates: 01/10/2014 - Present- Effective Dates: 03/28/2018 - Present
TN 10 (01-14)- TN 16 (03-18)
- DI 23022.296 Seckel Syndrome
- COMPASSIONATE ALLOWANCE INFORMATION
- SECKEL SYNDROME
- ALTERNATE NAMES
- Seckel Type Dwarfism; Seckel Type Premordial Dwarfism; Microcephalic Primordial Dwarfism Seckel Type; Seckel Syndrome Types 1-4; Nanocephalic Dwarfism
- DESCRIPTION
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), resulting in short stature (proportional dwarfism). Other features of SCKL include microcephaly (small head) with intellectual disability, unique facial features such as large eyes, narrow face, “beak-like” protrusion of the nose, and receding lower jaw. There are often skeletal bone abnormalities. Seckel syndrome is inherited in an autosomal recessive fashion, and has been linked to genetic mutations on four different chromosomes. The condition may be called Seckel syndrome type 1 when it is caused by a mutation in the SCKL1 gene, Seckel syndrome type 2 when caused by a mutation in the SCKL2 gene, and Seckel syndrome type 3 when caused by a mutation in the SCKL3 gene.- 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), resulting in short stature (proportional dwarfism). Other features of SCKL include microcephaly (small head) with intellectual disability, unique facial features such as large eyes, narrow face, “beak-like” protrusion of the nose, and receding lower jaw. There are often skeletal bone abnormalities.
- Seckel syndrome is inherited in an autosomal recessive fashion, and has been linked to genetic mutations on four different chromosomes. The condition may be called Seckel syndrome type 1 when it is caused by a mutation in the SCKL1 gene, Seckel syndrome type 2 when caused by a mutation in the SCKL2 gene, and Seckel syndrome type 3 when caused by a mutation in the SCKL3 gene.
- DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING
- Diagnostic testing: The diagnosis of SCKL is made by physical examination and confirmed by genetic testing.
- Physical findings: The physical findings of SCKL include:
- * Small for gestational age at birth;
- * extremely small but proportionate stature (dwarfism);
- * small head size (microcephaly);
- * pointed nose;
- * narrow face;
- * malformed ears;
- * high arched roof of the mouth (palate);
- * tooth malformation;
- * bony abnormalities such as unusually small jaw (micrognathia); permanent fixation of the fifth fingers in a bent position (clinodactyly), malformation (dysplasia) of the hips, and dislocation of a bone in the forearm (radial dislocation); and,
- * developmental delays.
- ICD-9: 759.89
- ONSET AND PROGRESSION
- 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
- 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:
- * Clinical history and examination that describes the diagnostic features of the impairment.
- * Laboratory tests showing results of genetic testing (chromosomal analysis).
- Suggested Listings for Evaluation:
DETERMINATION- DETERMINATIONS
- LISTING
- REMARKS
Meets Listing- Meetings Listing
12.05A, B, C, or D- 12.05
100.02B- 100.02
112.05D- 112.05
- 112.12
- Listing level growth, musculoskeletal, and/or cognitive findings must be documented; diagnosis of SCKL or laboratory testing results alone does not meet listing severity.
- Equals Listing
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- * Adjudicators may, at their discretion, use the Medical Evidence of Record or Listings suggested to evaluate the claim. However, the decision to allow or deny the claim rests with the adjudicator.
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