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What is Aarskog Syndrome & How is it Treated?|Causes, Symptoms and Diagnosis of Aarskog Syndrome

What is Aarskog Syndrome?

Aarskog Syndrome is an extremely rare inherited medical condition which affects only males. It causes a wide array of skeletal, genital, and facial abnormalities. The primary characteristic of Aarskog Syndrome is a prominent short stature of the patient. Some children with Aarskog Syndrome also display cognitive abnormalities.[1, 2]

What is Aarskog Syndrome?

Aarskog Syndrome is a result of an abnormality in the FGD1 gene and is an X-linked disorder. It has also been observed that Aarskog Syndrome tends to inhibit growth which may not be observed until the child reaches the age of three or more. Aarskog Syndrome is estimated to be present in 1 of every 25,000 births which makes it extremely rare.[1, 2]

What Causes Aarskog Syndrome?

As stated, mutation in the FGD gene present in the X chromosome is the primary cause of Aarskog Syndrome. Aarskog syndrome primarily affects males; however, in rare instances females who are carriers of the defective genes may also show symptoms of it.[1, 2]

It should be mentioned here that studies have shown that only 22% of males affected with Aarskog Syndrome have FGD1 gene mutation.

Thus, it is quite certain that there are other genes also which have not been identified yet which are associated with Aarskog Syndrome.[1, 2]

What are the Symptoms of Aarskog Syndrome?

Any child with Aarskog Syndrome will exhibit prominent facial, skeletal, and genital abnormalities even though the degree of severity will differ from person to person. Generally, children with Aarskog Syndrome will have an abnormally short stature with rounded face and a broad forehead. Their eyes will be widely spaced and there will be significant dropping of the eyelids. The nose will be abnormally small with anteverted nares. The jawbones will not be completely developed.[2]

Children with Aarskog Syndrome will also have abnormalities pertaining to the teeth and the ears. The ears may be low set and significantly thick. There will be delay in the development of teeth in children with Aarskog Syndrome along with enamel hypoplasia. The feet and hands of children with this condition will also be abnormally short. Pectus excavatum or a sunken chest is also quite common in children with Aarskog Syndrome.[2]

How Is Aarskog Syndrome Diagnosed?

Since most of the features of Aarskog Syndrome are visible at the time of birth thus diagnosis of the condition can be made just by a visual inspection. However, since many of the features seen with Aarskog Syndrome are also present with other genetic conditions and thus the physician will order a genetic testing to check for mutation in the FGD1 gene.[1]

This is especially required if there is a family history of Aarskog Syndrome or if there is any first degree relative of the patient with this condition. Once the mutation of the gene is confirmed a diagnosis of Aarskog Syndrome is made.[1]

How is Aarskog Syndrome Treated?

Since Aarskog Syndrome is a genetic condition, there is no cure for it. However, there are treatments options available directed towards the symptoms and improve the quality of life of the Aarskog Syndrome patients. The treatment approach is designed by a team of pediatricians, surgeons, cardiologists, ophthalmologists, speech specialists, and dentists. They will formulate a treatment plan that will be best suited for the Aarskog Syndrome patient.[2]

For correcting the skeletal abnormalities seen with Aarskog Syndrome, several surgeries may have to be done. Individuals with Aarskog Syndrome require regular eye and dental evaluations throughout their lives. Some studies point towards the use of growth hormones to improve the height of children with Aarskog Syndrome but there is no concrete evidence for it.[2]

For neurodevelopmental issues, it is necessary for the patient to have neuropsychiatric evaluations for treatment. Aside from this, only symptomatic and supportive treatment is available as of now for Aarskog Syndrome. It is also important for families of people with Aarskog Syndrome to undergo genetic counseling to get a complete knowledge of the inheritance pattern and the risks of their offspring getting this condition.[2]


Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:December 20, 2021

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