Aarskog Syndrome

What is Aarskog syndrome?

Aarskog syndrome is a rare, genetic disorder that is characterized by abnormalities in one’s skeleton, height, muscles, face, and genitals. Intellectual development is also often impacted.

What are the symptoms of Aarskog syndrome?

Affected individuals have distinct facial features, such as rounded faces, broad foreheads, widely spaced eyes, widow’s peak, drooping eyelids, underdeveloped under jaw bones, a small nose with flared up nostrils,broad nasal bridges, long grooves in the upper lips, and eyelid folds that slant downwards.

Hearing and dental abnormalities like missing teeth are other symptoms, as are skeletal dysplasia, short stature, genital deformities, intellectual disability, failure to thrive, chronic respiratory infections, and skeletal abnormalities.

In a small amount of cases, patients experience congenital heart defects, webbed fingers, farsightedness, scoliosis, cleft palate, an additional pair of ribs, cleft lip, the paralysis of certain eye muscles, and crossed eyes.

What causes Aarskog syndrome?

A mutated FGD1 gene is responsible for Aarskog syndrome. It is inherited in an X-linked recessive pattern, meaning that males are much more likely to be affected.

How is Aarskog syndrome diagnosed?

Doctors will begin with a clinical examination before looking to medical and family history. Throughout this process, they will be looking for the characteristic symptoms. A diagnosis can be confirmed through molecular genetic testing.

What are the treatments for Aarskog syndrome?

Treatment for Aarskog syndrome is symptomatic. A team of specialists may be necessary for the best treatment. Options include surgery, growth hormone, and other supportive methods.