Aarskog syndrome

Alternative names:

Aarskog-Scott syndrome; hypertelorism disorder

Symptoms:

• short stature which may not be obvious until the child is between 1 and 3 years old
• possible delayed sexual maturation
• rounded face
• hairline has a "widow's peak"
• wideset eyes with droopy eyelids
• small nose with nostrils tipped forward
• underdeveloped mid-portion of the face
• wide groove above the upper lip, crease below the lower lip
• delayed eruption of teeth
• top portion of the ear folded over slightly
• small, broad hands and feet
• short fingers and toes with mild webbing
• simian crease (single) in palm of hand
• mildly concave sternum
• protruding umbilicus (navel)
• inguinal hernias
• "shawl" scrotum, undescended testicles
• mild mental deficiency
• palpebral slant - eye
• pectus excavatum

Signs and tests:

X-rays will reveal skeletal abnormalities.