Are there Treatments for Aarskog Syndrome?

How often have you studied yourself in the mirror and asked yourself why you look the way you do? Do you look like anyone else around you? We don’t often notice our physical appearance, but sometimes doing so can help us observe it anything unusual is there. This may help identify serious disorders. One of these conditions that can show up in physical features in Aarskog Syndrome, a sudden and frequently burdensome disease. This article will tell you everything you need to know about it, including potential treatments. Keep reading to learn more!

What is Aarskog Syndrome?

Aarskog Syndrome is a rare genetic condition that can affect the face, muscles, bone structure, genitals and brain. It is caused by mutations of the FGD1 gene in the x chromosome, but oddly enough men tend to be more prone to the condition while women tend to be carriers who pass it along to male offspring.

Those with the syndrome can be identified by:

  • rounded face
  • broad forehead
  • spaced eyes
  • hypertelorism, a condition in which the inner corner of the eye is quite far away from the pupil.
  • ptosis, or a dropping of the upper eyelid
  • noses that are too small or too broad
  • upper jawbone is not fully developed
  • widow’s peak hairline
  • wide indentation above upper lip
  • lower ears than normal, or chubby ears wherein the top folds down
  • missing teeth or underdeveloped teeth
  • missing or underdeveloped enamel

Aarskog Syndrome is a form of dwarfism known medically as Skeletal Dysplasia. Patients tend to have a short stature, with short hands, short legs, broad fingers, a curvature of the fifth finger and abnormally stretchable finger joints. Their feet have round and bulging toes, and their rib cage is not fully developed, which makes their chest lower. There is a lump in their abdominal cavity because the muscular lining has an irregular opening. They also have protruding navels.

Symptoms of Aarskog Syndrome

Those with Aarskog Syndrome experience spinal abnormalities wherein the spinal column’s bones are not completely closed, the upper bones fuse or the second cervical vertebra is not developed. Their genitals may also be affected, with abnormal skin folds around penises, undescended testes a divided scrotum and a urinary opening on the side of the penis. Other physical abnormalities include scoliosis, additional ribs, heart defects and hole in the roof of the mouth, webbed fingers and short necks. They may even experience crossed eyes, farsightedness or paralyzed eye muscles.

Aarskog Syndrome may have intellectual effects, too, with many patients showing a difficulty in learning or various behavioral disorders. Patients also frequency expirience respiratory infections or growth stunts, while other may go through puberty abnormally late in life.

Are there Treatments for Aarskog Syndrome?

Treatments for Aarskog Syndrome mainly depend on the patient’s symptoms and require the help of a specialist or even a team of specialists including a pediatrician, surgeon, cardiologist, dentist, speech pathologist, audiologist to address hearing issues and optometrist.


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