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What is Seckel Syndrome?

  • A form of dwarfism
  • Prevalence unknown
  • Occurs as a result of mutations on the chromosomes 3, 18 and 14
  • Can be split into 8 subtypes 

Diagnosis of Seckel Syndrome

  • After birth by:
    • Historical records
    • Observation of common physical characteristics 
    • Laboratory test results 
    • X-ray

What are common characteristics of Seckel Syndrome?

  • Short stature
  • Small head size (Microcephaly)
  • Abnormality of the nose - beak like appearance 
  • Identifiable facial features e.g. malformed ears, small jaw (mircrognathia) and large eyes
  • High arched roof (palate) of the mouth 
  • Potential bone abnormalities 
  • Potential blood disorders 

*Please be aware, not all of the characteristics may be present*

Other information about Seckel Syndrome

  • Intelligence is considered lower than average
  • Can affect boys and girls equally

Genetics of Seckel Syndrome

  • Autosomal recessive pattern

Dwarfism Genetics Seckel syndrome mutation recessive

Additional reading about Seckel Syndrome

*Little People UK are not responsible for external website*

Other organisations supporting Seckel Syndrome

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