Aarskog syndrome

Causes and Risks:
Aarskog syndrome is thought to be either an autosomal recessive or semi-dominant inherited disorder. It is carried on the X chromosome . This disorder affects mainly males, although females may carry some of the features.

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.

Treatment:
Orthodontic treatment may be attempted for some of the facial abnormalities. Trials of growth hormone have not been effective to treat short stature in this disorder.

Prognosis:
Mild degrees of mental slowness may be present, but affected children usually have good social skills. Some males may exhibit reduced fertility.

Complications:
Some recent findings have included cystic changes in the brain and generalized seizures .

Call Your Healthcare Provider:
Call your health care provider if your child exhibits delays in growth or if you notice any of the irregularities described here.


This is an illustration of the different landmarks of the face. These landmarks may be referred to when answering questions in the Symptom Analysis section.



Pectus excavatum is a condition in which the "breast bone" (sternum) appears sunken and the chest concave. It is sometimes called "funnel chest". The majority of these cases are not associated with any other condition (isolated findings). However, some syndromes include pectus excavatum.