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)