Disease or Syndrome
Dubowitz syndrome
Definitions related to dubowitz syndrome:
  • A rare, autosomal recessive inherited syndrome characterized by microcephaly, growth retardation, and a small, round, triangular shaped face with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.
    NCI
    U.S. National Cancer Institute, 2021
  • Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.
    OrphaNet
    INSERM, 2021
  • Dubowitz syndrome is a very rare genetic and developmental disorder with a broad range of signs and symptoms. The typical findings of Dubowitz syndrome include growth failure/ short stature, characteristic facial features such as a small triangular face, high sloping forehead, drooping eyelid (ptosis), short eyelids, increased distance...
    NIH Genetic and Rare Diseases
    National Center for Advancing Translational Sciences
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