What is the definition of Seckel Syndrome?

Seckel syndrome is a genetic disorder characterized by growth retardation, very small head (microcephaly( with intellectual disability , and unique facial features such as large eyes, beak-like nose, narrow face, and receding lower jaw. About less than 25% of the patients also have blood abnormalities. Seckel syndrome is inherited in an autosomal recessive fashion. The condition may be divided in 8 different subtypes, according to the specific gene alteration (mutation ). Treatment is supportive.

What are the alternative names for Seckel Syndrome?

  • SCKL
  • Nanocephalic dwarfism
  • Seckel-type dwarfism
  • Bird-headed dwarfism

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