Disease or Syndrome
Seckel syndrome
Seck·el syn·drome
Definitions related to seckel syndrome:
  • A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.
    NCI
    U.S. National Cancer Institute, 2021
  • Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.
    OrphaNet
    INSERM, 2021
  • 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...
    NIH Genetic and Rare Diseases
    National Center for Advancing Translational Sciences
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