clinical features

Last reviewed 04/2022

Features include:

  • short stature
  • lax joints
  • short neck
  • flat feet
  • large, unstable knees
  • large elbows and wrists
  • midface hypoplasia and mandibular protrusion - and therefore a grinning face
  • thin teeth enamel
  • mild hepatosplenomegally
  • flat vertebrae causing short trunk