Symptoms Of Aarskog Syndrome: Causes, Diagnosis & Treatment

Aarskog syndrome is a rare hereditary genetic condition having characteristic features such as stunted growth, abnormal facial features, abnormality of bones and muscles besides genitalia. This disorder mainly affects males. Some females may develop milder features of aarskog syndrome. The symptoms usually become apparent after the age of three.

The disease is caused by genetic mutation and the defect lies in X chromosome. Hence males are more likely to suffer from this condition because they have only one X chromosome, the other is Y. Aarskog syndrome cannot be cured as it is a congenital disease.

Treatment may consist of attending specific problems related to structural malformation in different organs and sites in the body.

What Is The Cause Of Aarskog Syndrome?

Aarskog syndrome is an inherited condition. This means it is passed from a parent to the child. The disorder is caused due to mutation in gene. The defect is found to be present in FGD1 gene (faciogenital dysplasia 1 gene). This gene is associated with X chromosome. Chromosomes are passed from parents to the child. Since males have only X chromosome they are vulnerable to suffer from aarskog syndrome if the mother has X chromosome abnormality.

Women have two X chromosome. The female child has two X chromosome, if one is abnormal the other normal will compensate, hence there is less chances of females suffering from this syndrome. They may become carrier without manifesting apparent symptoms. Thus males are at greater risk as compared to females. This disorder is extremely rare and one out of one million can be affected with this disorder.

Signs And Symptoms Of Aarskog Syndrome

Aarskog syndrome mainly affects male child. The symptoms become apparent usually 3 years after birth. The major anatomical regions involved are face, bones and muscles, genitals, and brain.

Following are some of the symptoms of aarskog syndrome:

  • The child has round face with broad forehead.
  • Eyes are spaced widely.
  • Drooping of eyelids.
  • Nose is small with flared up nostrils.
  • The jaw bone is abnormally small in size.
  • A widow’s peak in hairline.
  • Puberty is delayed as a result there is delayed secondary sexual characteristics such as pubic hair, voice change, moustache and beard etc.
  • Abnormal ears
  • Delayed dentition
  • Short stature
  • Short and webbed toes and fingers.
  • Single crease in palm.
  • Fifth finger is bent.
  • Inguinal hernia
  • Undescended testes
  • Urinary opening may be underneath the penis instead of the tip of the penis.
  • Abnormal sideways deviation of spine.
  • Cleft palate
  • A groove in upper lip.
  • Slow cognitive performance.

Diagnosis And Treatment Of Aarskog Syndrome

Apparent facial features as well as other characteristic symptoms such as undescended testes, family history of this problem will help the doctor to diagnose the condition. For confirmation the physician may recommend to do genetic testing of mutation in the affected gene (FGD1). X-ray of spine and face will reveal abnormal structure of face and spine.

Aarskog syndrome cannot be cured. It is a genetic disorder. However, different types of abnormality involving teeth, lips, bone, etc can be corrected with surgery. Orthodental surgery may be required to correct the teeth position.

If there is an inguinal hernia it can be repaired with surgery. Undescended testes can be surgically brought down in the scrotum. The child may also require psychological assistance and emotional backing if there is intellectual delay in the child.