Aarskog Syndrome: The Causes, Symptoms, and Treatments

Aarskog syndrome or known as Aarskog-Scott syndrome is a very rare genetic disorder. X chromosome mutations are known to be the cause and can affect a person’s genitals, muscles, stature, facial features and bones, especially in men.

Aarskog Syndrome: The Causes, Symptoms, and Treatments

Even so, it does not rule out the possibility that even women can develop this syndrome and even only moderately develop. For symptoms, in cases of  chromosomal-abnormality-resulted syndrome, the symptoms are not immediately visible or felt by the sufferer. Symptoms will become clearer when someone is at least 3 years old and it’s even known to be a disease that is difficult to treat.

Symptoms of Aarskog Syndrome

Because it is a genetic disorder, this case of Aarskog syndrome affects children more. The child’s body parts, facial features, muscles and bone structure, to the brain and genital area are the parts that which could carry out symptoms.

Brain Section

For parts of the brain, there are symptoms that might occur or be felt by the child, such as:

  • Delayed cognitive development.
  • Attention Deficit Hyperactivity Disorder or ADHD.
  • Delayed cognitive performance.

Genital Section

Genital malformation is one of the main problems of the condition of Aarskog’s syndrome and this malformation is an atypical formation of a child’s genitals. The following are general signs shown from the child’s genital area:

  • Delayed sexual maturity.
  • Hernia or a lump in the scrotum or in the groin.
  • Scrotum defects.
  • The testicles do not go down.

Muscle and Bone Structure Section

The child’s muscles and bone structure can also experience symptoms due to this syndrome so that in the end both conditions become weaker. The following are the symptoms of the malformation in muscle and bone structure section.

  • Chest indentation, which eventually pressing the underlying heart and lungs and results chest pain, shortness of breath, and congestion. The best way to deal with it is to first learn the natural ways to break up chest congestion.
  • Short toes and hands,
  • Webbed toes and hands.
  • Short body.
  • The little finger looks curved.
  • There is a single fold rather than a double fold on the palm.

Face Features Section

There are certain characteristics that appear on the face of a child with Aarskog syndrome, such as:

  • Round face.
  • Slanted eyes.
  • Wide eyes.
  • Wide nose or even small not as normal.
  • Nostrils tilted forward. But for cosmetic purposes sometimes people get fillers in their noses. Before you decide to get fillers, you should probably know first what are the side effects of fillers in nose.
  • Late tooth growth.
  • Loose eyelids.
  • There is an ear fold at the top.
  • Indent wide enough at the top of the upper lip.
  • Late sexual maturity.
  • Delayed puberty.

Cause of Aarskog Syndrome

Aarskog syndrome is a congenital abnormality as mentioned before and this condition occurs as a result of a mutation in the gene of faciogenital 1 dysplasia in which the gene is also called the FGD1 gene. The X chromosome that is passed on by parents to children becomes connected to that gene and men have only one X chromosome.

So that way, sons of a woman carrying a potential genetic defect are at a high risk of experiencing Aarskog syndrome. Meanwhile, women who have two X chromosomes which only one of them carries a genetic defect will not have their son experiencing Aarskog syndrome, the healthy chromosome will compensate. That is why women act more as carriers or developers of lighter forms of interference.

Risk Factors

The occurrence of Aarskog syndrome in a person is not only caused by the results of gene mutations, just like Robinow’s Syndrome, but also several other factors that can increase the risk. The following are the risk factors in question and even the most likely factors causing the syndrome.

  • Sex Factor – This factor is already clear because previously it was mentioned that cases of Aarskog syndrome are more common in boys. Why do boys become the biggest risk of having this congenital disorder? The tendency for this to be greater in boys is that boys only have one X chromosome. So if that one X chromosome is defected, then boys wouldn’t have any healthy X chromosome, while X chromosome is the carrier of so many possible disorders. One of which is Aarskog Syndrome.
  • Genetic Arrangement – If the mother does carry a gene that is then able to cause Aarskog’s syndrome, then the child, especially the boy, will have an increased risk of getting this syndrome. Because it is a congenital disorder, the genetic makeup is the biggest risk factor that must be watched out for.

Treatment of Aarskog Syndrome

After complaints of symptoms are so apparent, then going to the doctor is the most appropriate step. The doctor will then examine the facial features of the child to be able to see or detect the presence of Aarskog syndrome. Complete physical examination needs to be done first and the doctor will also ask questions about family medical history.

If the doctor suspects that the child is suffering from Aarskog’s syndrome, there is a possibility that a genetic test will also need to be taken in order to ensure that the FGD1 gene mutation took place or not. Not only that, X-rays may be a method of diagnosis which is also done primarily to examine the head to be able to see how severe the malformations are in the brain.

Unfortunately, there is no treatment for Aarskog’s syndrome and the treatment usually given is to correct abnormalities in the teeth, body tissue and bone structure. Treatment like this is generally done by surgery, such as:

  • Hernia surgery where this action is to be able to overcome a lump in the scrotum or groin. The post-surgery period sometimes can be painful and traumatic, so you will have to well aware first of ways to relieve burning pain after hernia surgery
  • Testicular surgery which will increase the likelihood of the testicles go down.
  • Orthodontic and dental surgeries where the main purpose of this medical procedure is to make the tilted teeth repairable. Maybe by installing braces. Sometime, the first weeks of wearing braces bring in pain around the oral area, and you will need to learn natural ways to relieve braces pain. This method is also the most recommended way for abnormal bone structures to be repaired.

Other actions that can help sufferers of Aarskog syndrome are supportive help for cognitive development for children who are delayed. If the child has ADHD, it is necessary for psychiatry to automatically support the condition. A counselor is also needed in this case so that they can teach parents how to take care of the child and help develop strategies to raise children with this syndrome, and sometimes they also have to help the parents to accept the reality that their son is a sufferer of Aarskog Syndrome, and it’s okay. Sometimes parents need help understanding, and accepting their kids whenever they have some disease, especially the difficult-to-treat ones.

Emotional support should not be missed because children with Aarskog syndrome will experience physical and social difficulties at the same time. Because you feel different, your little one can have an inferiority complex and feel depressed. So, counseling is also very important as a method of child care.

How to prevent Aarskog syndrome?

This syndrome is innate so it will be difficult to prevent it, only women can take genetic tests to find out if they are carriers of the mutated FGD1 gene. If the test results are positive, that means the risk is high enough to have a child with Aarskog syndrome, so reconsider whether to have your own children or not.

What are the risks for complications of Aarskog syndrome?

There are a number of complications that are known to be closely related to Aarskog syndrome where the risk of complications referred to here is:

  • There are cystic changes in the brain.
  • Convulsions
  • Irregular teeth.
  • The condition of the scrotum is not normal so is the testis.
  • Impaired physical growth.

Aarskog syndrome is a congenital condition that is indeed quite difficult to deal with and prevent. But knowing this, it is possible for women to be more alert by doing genetic tests first before planning to have children.

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