Conditions / Genetic

chromosome 10q23 deletion syndrome

info ยท Genetic

A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2.

Signs and symptoms

  • Arachnodactyly
  • Upslanted palpebral fissure
  • Expressive language delay
  • Deeply set eye
  • Global developmental delay
  • Receptive language delay
  • Neurodevelopmental delay
  • Breast aplasia
  • Smooth philtrum
  • Autism