All That You Need to Know About Aarskog Syndrome
What is Aarskog Syndrome?
Aarskog syndrome is a genetic physical disorder but is very rare. Aarskog syndrome is also known as Aarskog-Scott syndrome and is caused by the mutation of X chromosomes. This mutation is characterized by physical disorders that affect a person’s:
- facial features
- stature
- muscles
- limbs
- bones
- genitalia
Males are primarily affected by Aarskog syndrome whereas females develop its milder version. Additionally, some other types of cognitive disorders can occasionally be present.
During the age of 3 years, the symptoms of Aarskog syndrome become apparent. Unlike other medical conditions, this syndrome has no cure and is a lifelong medical condition.
What Are the Symptoms That Determine Aarskog Syndrome?
The symptoms of aarskog syndrome, depending upon its intensity, vary from person to person. The symptoms can be:
- Very Frequent or Frequently- shown by 80- 90% people
- Individualized- shown by a very few people
- Sporadic- shown by 5-10% people
The major areas that are affected by the Aarskog syndrome of a child’s anatomy are:
- facial features
- bone and muscle structures
- brain
- genitalia
Facial Features
If your child is affected with Aarskog syndrome, they may have any of the following facial features:
- window peak in their hairline
- round face
- wide set eyes
- slanted eyes
- unusually small or broad nose
- delayed sexual maturity and puberty
- wide indention above the upper lip
- folding down ears from the top
- sagging eyelids
- late teeth growth
Bone and Muscle Structures
Aarskog syndrome also affects the bones and the structure of muscles like the following:
- curled fingers
- indented chest
- short stature
- short fingers and toes
- webbed fingers and toes
- instead of multiple only one single crease in the palms
Genital Malformations
Genital malformations refer to atypical formations of genitals. Genital development and malformations are common in Aarskog syndrome and include the following:
- a hernia
- undescended testicles
- slow sexual maturity
- misshapen scrotum
Brain Development
Aarskog syndrome also causes mild mental deficiencies, that include:
- slow cognitive performance
- ADHD – A(attention), D(deficit), H(hyperactivity), D(disorder)
- delayed cognitive development
Causes Of Aarskog Syndrome?
Aarskog syndrome is a disorder that is inherited. It is a result of the mutation of the FGD1 gene or faciogenital dysplasia 1 gene. This gene is linked with X chromosome. X chromosomes is a gene that is passed down from an Aarskog syndrome parents to their babies.
Males have one X chromosome, and if it is carrying Aarskog syndrome then the female will transfer it to the male child. But female children may develop a milder form of this syndrome because females have 2 X chromosomes and even if one of their chromosomes has the defect, the other one can compensate for it.
How to Diagnose Aarskog Syndrome?
- Your child’s doctor who is to determine that your child has Aarskog syndrome, will examine their facial features.
- The doctor will be typically conducting a full physical examination
- Will ask you about the medical history of your family.
- To determine that your child has Aarskog syndrome, the doctor will order genetic tests confirming the mutations of the FGD1 gene.
- Head X-rays will help to determine the severity of Aarskog syndrome and the malformations caused by it.
How to Treat Aarskog Syndrome?
Aarskog syndrome is a lifelong disorder that has no cure. Treatment that is meant for this syndrome typically helps in correcting any abnormalities in the children including:
- teeth
- bones
- tissue
Treatments involve surgical procedures like:
- dental and orthodontic surgery- helps to repair the skewed teeth and any abnormal bone structure
- hernia repair surgery- helps to take out a scrotum or groin lump
- testicular surgery- allows the testicles to descend
More info about Aarskog Syndrome – Causes, Symptoms, Risk Factors, Diagnosis & Treatment
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