Important features include:

  • unusual facial features (broad, flat nose, widely set eyes)
  • tongue which is out of proportion to the mouth (i.e. comparatively large tongue)
  • protrusion of abdomen
  • poor growth of hair and nails
  • dry skin
  • delayed eruption of teeth.
  • Mental and physical retardation is manifested by a delay in achieving the normal milestones of development like social smile, holding up the head, sitting, walking and talking.
  • short stature (resemble dwarfs)