Seckel syndrome

Seckel syndrome is an autosomal recessive congenital dwarfing disorder.

The estimated incidence is ~ 1:10,000. There is no recognised gender predilection.

It is clinically characterised by many features including

It is considered a type of primordial dwarfism

Genetics

The abnormal genes have been mapped to two loci on chromosomes 3q and 18p 7-8.

Associations

May show any of the of the clinical features shown above. Additional skeletal features may include:

Named after Helmut Paul George Seckel, American (US) physician (1900-1960).

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Article Information

rID: 12453
System: Obstetrics
Section: Syndromes
Synonyms or Alternate Spellings:
  • Seckel's syndrome
  • Microcephalic primordial dwarfism
  • Bird-headed dwarfism
  • Virchow-Seckel dwarfism

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