Seckel syndrome

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Disease Overview

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.[2122] About less than 25% of the patients also have blood abnormalities.[2123] 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.[2122][9975][9976]


Synonyms

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

For more information, visit GARD.

National Organization for Rare Disorders