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Understanding Aarskog Syndrome

Understanding Aarskog Syndrome

What is Aarskog syndrome?

Aarskog syndrome is also known as Aarskog-Scott syndrome. It is caused by a mutation of the X chromosome.  It is therefore a genetic disorder although its occurrences are usually in males. Whereas it is very serious in males, it is milder in females. I will explain why this is so. A male child has an XY chromosome by receiving the Y chromosome from the father and the X from the mother. A female child has an XX chromosome by receiving the X from the mother and the other X from the father. Now, the mother is the carrier of the defective gene (X chromosome) that is responsible for Aarskog syndrome. Since the male child will definitely receive the X chromosome from her mother, he will automatically receive the defective gene located in the X chromosome.
But the female child on the other hand will only receive one X chromosome from the mother and the other X from the father. So even if she receives the defective X chromosome from her mother, the other X received from the father is normal and will thus compensate for the deficiencies in the one received from her mother. That is why it is serious in males and mild in females.
It is possible for the symptoms not to be seen until the affected child is three years or more. It does not have a cure yet. The features affected include; the bones, brains, muscles, face, and sexual organs.

Symptoms of Aarskog Syndrome

  1. Facial symptoms: Facial features such as a round face, atypical small or broad nose, nostrils that slant forward, widow’s peak hairline, eyelids that are saggy; ears that fold down at the top, slanted eyes that are wide-set, wide indent above the upper lip.
  2. Malformation of the bones and muscles: As a result of this, the affected child will be seen to have a face that is round; pinky fingers that are curled; fingers and toes that are short; fingers and toes that are; notable creases in the hands’ palms as opposed to the single crease found in normal people; a chest that is indented and ultimately a short-statured person.
  3. Genital Malformations lead to delayed puberty and sexual maturity. Abnormal formation and development of the genitals are common with Aarskog patients. These include undescended testes, hernia, delayed puberty, and abnormally shaped scrotum.
  4. Brain malformations in their mild and moderate form. The following can be readily seen in Aarskog patients; delayed development in cognitive ability and hence slow performance in cognitive functions.
  5. Another brain disorder associated with this syndrome is attention deficit hyperactivity disorder (ADHD) where the child is highly restless and cannot concentrate on a thing for a long time.
  6. Delay in teeth development.

What causes Aarskog syndrome?

The only cause of Aarskog is an X-linked faciogenital dysplasia 1 gene (FGD1 gene) mutation. It is usually inherited from the X chromosome of the mother carrying the genetic defect. This, therefore, predisposes the male child to be affected as his X chromosome is from the mother. This has been earlier explained in the introductory part of this article.

Diagnosis

  1. Examination of facial features by a doctor to ascertain the presence or absence of the syndrome.
  2. Genotyping: Suspicion of the presence of the syndrome by a doctor’s examination will prompt further medical examination particularly genotyping where the mutated gene FGD1 will be tested for.
  3. Xrays: It is especially useful in ascertaining the severity of the malformations of the child’s internal organs.

Management of Aarskog syndrome

Since there is no cure yet for this syndrome, the survival of affected people will be based on living by taking certain actions based on the defects the syndrome brought about. They are;

  1. A hernia surgical repairs: This will allow the lump in the scrotum to be removed.
  2. Testicular surgery: This is to allow testes to descend into the scrotum. That is where it should be!
  3. Dental surgery: This medical action will help to check and repair the bad dentition.
  4. Orthodontic surgery: It will help correct the abnormal structure of the bones.
  5. In the case of cognitive and developmental delays: Cognitive aids from a specialist or counselor in behavioral therapy can help the parents of the affected child to properly understand the skills necessary to parent him.
  6. Psychiatrists will be of the utmost help in helping the child manage ADHD. Emotional support boosts their self-esteem, especially when faced with societal ridicule.

Prevention

In Aarskog genetic testing, what is checked for is the presence of a mutated gene called, the FGD1 gene. Genotyping done on a pregnant woman can help ascertain this genetic defect’s presence. Early detection of Aarskog can thus be checked and eliminated via abortion.

Feature image by Medline Plus

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