Conditions / Genetic

chromosome 8q21.11 deletion syndrome

info · Genetic · ICD-10: Q93.5

A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features.

Signs and symptoms

  • Protruding ear
  • Intellectual disability
  • Low-set ears
  • Exaggerated cupid's bow
  • Round face
  • Ptosis
  • Short philtrum
  • Short palpebral fissure
  • Downturned corners of mouth
  • Wide nasal bridge

Also known as: 8q21.11 microdeletion syndrome