Aarskog-Scott syndrome

What is Aarskog-Scott syndrome?

Aarskog-Scott syndrome is a rare genetic disorder that occurs mainly in males due to the way in which it is inherited.

It is often first identified from the age of 3 years old, when restricted growth prompts a diagnosis.

The defining features of this rare disease include a short stature, unique facial features, as well as abnormalities affecting the skeleton and genitalia of affected individuals.

What gene changes cause Aarskog-Scott syndrome?

Mutations on the FGD1 gene cause the syndrome.

It is an X-linked inherited disorder, making it much more common in males than females who display less severe symptoms.

The syndrome appears to be inherited in either an autosomal dominant or autosomal recessive pattern.

Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.

With syndromes inherited in an X-linked dominant pattern, a mutation in just one of the copies of the gene, causes the syndrome. This can be in one of the female X chromosomes, and in the one X chromosomes males have. Males tend to have more severe symptoms than females.

What are the main symptoms of Aarskog-Scott syndrome?

The main symptoms of the syndrome include growth restriction in childhood, although by puberty most individuals have caught up with their growth.

Unique facial characteristics of the syndrome include a small nose, a large distance between the eyes, a broad forehead, drooping eyelids, webbing between the fingers and short fingers.

Other health conditions associated with the syndrome include a cleft lip or palate, heart defects and genital abnormalities. There is also documentation of neurobehavioral abnormalities. Symptoms may vary considerably between individuals.

How does someone get tested for Aarskog-Scott syndrome?

The initial testing for Aarskog-Scott syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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