Aarskog syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

The face

Simian crease

Pectus excavatum

Overview

Symptoms

Treatment

Prevention

Aarskog syndrome

Symptoms:

mild to moderate 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"
wide set 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 with short fingers and in-curving 5th finger
short fingers and toes with mild webbing
simian crease (single) in palm of hand
protruding belly button
inguinal hernias
"shawl" scrotum, undescended testicles
mild to moderate mental deficiency
eyes have downward palpebral slant
pectus excavatum (mildly sunken chest)

Signs and tests:

X-rays will reveal skeletal abnormalities. Genetic testing may be available for mutations in the FGDY1 gene.

Review Date: 3/13/2006
Reviewed By: Lamya Alarif, Ph.D., H.C.L.D., Immunology and Genetics Associates, McLean, VA. Review provided by VeriMed Healthcare Network.

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