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Aarskog syndrome

 Aarskog syndrome is a very rare disease that affects a person's height, muscles, skeleton, genitals, and appearance. It can be passed down through families (inherited).



Causes

Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called "faciogenital dysplasia" (FGD1).

Symptoms

Symptoms of this condition 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


Exams and Tests

These tests may be done:

  • Genetic testing for mutations in the FGD1 gene
  • X-rays
  • Treatment
  • Moving the teeth may be done to treat some of the abnormal facial features a person with Aarskog syndrome may have.


Support Groups

The following resources can provide more information on Aarskog syndrome:

  • National Organization for Rare Disorders -- rarediseases.org/rare-diseases/aarskog-syndrome
  • NIH/NLM Genetics Home Reference -- ghr.nlm.nih.gov/condition/aarskog-scott-syndrome


Outlook (Prognosis)

Some people may have some mental slowness, but children with this condition often have good social skills. Some males may have problems with fertility.


Possible Complications

These complications can occur:

  • Changes in the brain
  • Difficulty growing in the first year of life
  • Poorly aligned teeth
  • Seizures
  • Undescended testicles


When to Contact a Medical Professional

Call your health care provider if your child has delayed growth or if you notice any symptoms of Aarskog syndrome. Seek genetic counseling if you have a family history of Aarskog syndrome. Contact a genetic specialist if your provider thinks you or your child may have Aarskog syndrome.


Prevention

Genetic testing may be available for people with a family history of the condition or a known mutation of the gene that causes it.


Alternative Names

Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia


Possible Treatment Plans for Aarskog-Scott Syndrome

Treatment is provided to improve the quality of life, as there is no permanent cure for this syndrome yet. Usually, symptoms are visible by the time the child is three years old, so treatment is started at this early stage so that patients can achieve a reasonable degree of normality as they grow older. Every patient with Aarskog syndrome needs an individual comprehensive therapy plan for treatment.


The peculiar abnormalities in the patient with their characteristic symptoms require the services of a specialist team of healthcare providers to provide a harmonized treatment.


Facial and dental irregularities are corrected by orthodontic treatment.

Surgical procedures are carried out to treat anomalies like cleft lip or palate and genital defects.

Growth hormone (GH) treatment is given to correct growth retardation in stunted people.

Auxiliary treatments are given to persons with intellectual deficiencies, including educational assistance

Genetic counseling may be required for the parents.


Surgeries for Aarskog-Scott Syndrome

Genital disorders like inguinal hernia and undescended testicles are treated with the help of surgery.

Inguinal hernia repair surgery: This surgery is performed when the child is 12 months old. An internal opening in the inguinal canal located near the abdominal or belly wall is called the hernia orifice. Various abdominal structures may descend through this opening to form an inguinal hernia. A small incision is made on the abdomen through which the hernial sac is removed and the opening in the inguinal canal is closed by applying sutures.

Cryptorchidism surgery: The condition in which either one or both the testicles have not dropped to their correct position in the scrotum is termed as cryptorchidism (undescended testicles). Surgery in this condition is usually performed in infants at 5-15 months of age. A small incision near the groin locates the testicles and a second incision in the scrotum is made to replace them in the proper location. Both the incisions are closed with biodegradable sutures.

Cleft lip or palate surgery: This surgery is done within 12 months of the birth of the child. Here, the lip abnormality is repaired and the cleft closed through a surgical procedure. Presurgical procedures of lip repairing include:

Improving the position of the maxillary alveolar arches by orthopedic treatment

Performing nasoplasty if nasal deformity is present as well

Cleft palate surgery: Submucous cleft palate is corrected only if the child has problems during feeding and speech activity. This surgery can be performed on a secondary level to correct the nasal tip deformity after the completion of nasal growth.


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