Conditions / Genetic

chromosome 16q22 deletion syndrome

info ยท Genetic

A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontan

A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck.

Signs and symptoms

  • Failure to thrive
  • Global developmental delay
  • High forehead
  • Growth delay
  • Cryptorchidism
  • Hypotonia
  • Micrognathia
  • Low-set ears
  • Wide anterior fontanel
  • Broad hallux