Definition

What is Aarskog-Scott syndrome?

Aarskog-Scott syndrome is a genetic disorder that impacts the development of many parts of the body. This condition commonly affects males, although females may have mild features of the syndrome.

People with Aarskog-Scott syndrome typically have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow’s peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up during puberty.

How common is Aarskog-Scott syndrome?

Aarskog-Scott syndrome is considered to be a rare disorder; however, its prevalence is unknown because of the undiagnosed of mildly affected people.

However, it can be managed by reducing your risk factors. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Aarskog-Scott syndrome?

There are a great number of signs and symptoms of this condition.

These signs and symptoms are believed as the most common ones that usually appear on patients with Aarskog-Scott syndrome, include:

  • Belly button that sticks out
  • Bulge in the groin or scrotum
  • Delayed sexual maturity
  • Delayed teeth
  • Downward palpebral slant to eyes (palpebral slant is the direction of the slant from the outer to inner corner of the eye)
  • Hairline with a “widow’s peak”
  • Mildly sunken chest
  • Mild to moderate mental problems
  • Mild to moderate short height which may not be obvious until the child is 1 to 3 years old
  • Poorly developed middle section of the face
  • Rounded face
  • Scrotum surrounds the penis (shawl scrotum)
  • Short fingers and toes with mild webbing
  • Single crease in the palm of the hand
  • Small, broad hands and feet with short fingers and curved-in fifth finger
  • Small nose with nostrils tipped forward
  • Testicles that have not come down (undescended)
  • Top portion of the ear folded over slightly
  • Wide groove above the upper lip, crease below the lower lip
  • Wide-set eyes with droopy eyelids

When should I see my doctor?

Early diagnosis and treatment can stop this condition from worsening and prevent another medical emergency, so talk to your doctor as soon as possible to prevent this serious condition.

If you have any questions, please consulting with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Aarskog-Scott syndrome?

It is believed that mutations in the FGD1 gene cause some cases of Aarskog-Scott syndrome. The FGD1 gene provides instructions for making a protein that turns on (activates) another protein called Cdc42, which transmits signals that are important for various aspects of embryonic development.

Mutations in the FGD1 gene lead to the production of an abnormally functioning protein. These mutations disrupt Cdc42 signaling, which causes the wide variety of developmental abnormalities seen in Aarskog-Scott syndrome.

Risk factors

What increases my risk for Aarskog-Scott syndrome?

You may have higher risks for this condition if you are experiencing these following conditions:

  • Family members have this condition is a high risk

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Aarskog-Scott syndrome diagnosed?

If your doctor suspects that you experience Aarskog-Scott syndrome, he/she will perform an exam thoroughly to determine this condition because it seems tough to detect this condition, your health care provider will perform a thorough physical exam, discuss with you the type of symptoms you are experiencing, and ask you several questions about the signs and symptoms that you are experiencing.

Then your healthcare providers will order some tests to determine the condition:

  • Genetic testing for mutations in the FGD1 gene. Genetic testing may be available for mutations in the FGDY1 gene. Genetic counseling is indicated for individuals or families who may carry this condition, as there are overlapping features with fetal alcohol syndrome.
  • X-rays

How is Aarskog-Scott syndrome treated?

Similar to all genetic diseases Aarskog–Scott syndrome cannot be cured, although numerous treatments exist to increase the quality of life.

Surgery may be required to correct some of the anomalies, and orthodontic treatment may be used to correct some of the facial abnormalities. Trials of growth hormone have been effective to treat short stature in this disorder

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Aarskog-Scott syndrome?

It is believed that genetic testing before pregnancy may be available and highly recommended for people with a family history of the condition or a known mutation of the gene that causes it.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: June 26, 2017 | Last Modified: June 26, 2017

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