Aarskog-Scott syndrome

Aarskog Syndrome: Description

Aarskog syndromeA Aarskog syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag or shawl scrotum, protruding umbilicus, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; the X-linked form [MIM*305400] is caused by mutation in the FGD1 gene on Xp; autosomal dominant [MIM*100050] and recessive [MIM*227300] forms also exist.

Alternative Name: Faciodigitogenital dysplasia, facial-digital-genital syndrome, Greig syndrome, shawl scrotum syndrome, and facio-digito-genital syndrome.

Aarskog syndrome is an extremely rare genetic disorder. This syndrome causes changes in the size and shape of certain bones and cartilage in the body. The face, fingers, and toes are most often affected.

Symptoms

Typical symptoms include:

  • Disproportionately short stature.
  • Underdeveloped mid-portion of the face.
  • Rounded face.
  • Wide-set eyes and slightly slanted eyes with drooping eyelids.
  • Small nose.
  • Front-facing nostrils.
  • Wide groove above the upper lip.
  • Crease below the lower lip.
  • Folding of the top portion of the ear.
  • Delayed teeth growth.
  • In some cases, cleft lip or palate.

Other symptoms Include:

Small, wide hands and feet.

  • Short fingers and toes.
  • A malformed scrotum.
  • Undescended testicles.

Causes and Risk Factors

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.

Only about 20 percent of people with this disorder have identifiable mutations in the FGD1 gene. The cause of Aarskog-Scott syndrome in other affected individuals is unknown.

Aarskog-Scott syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause Aarskog-Scott syndrome. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females who carry one altered copy of the FGD1 gene may show mild signs of the condition, such as hypertelorism, short stature, or a widow's peak hairline. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Diagnosis

The doctor will ask about your symptoms and medical history. A physical exam will be done. The diagnosis of Aarskog syndrome is usually based on facial characteristics. The diagnosis can be confirmed by x-rays of the face and skull.X-rays will reveal skeletal abnormalities. Genetic testing may be available for mutations in the FGDY1 gene.

In families with a prior occurrence of Aarskog syndrome, prenatal diagnosis might be possible through ultrasound examination of the face, hands, and feet, or by testing the FGD1 gene. However, this is not generally sought since the condition is not considered medically severe.

Differential Diagnosis

Few other conditions are confused with Aarskog syndrome. Noonan syndrome, another single gene disorder that has short stature, ocular hypertelorism, downslanting eye openings, and depression of the lower chest, poses the greatest diagnostic confusion. Patients with Noonan syndrome often have wide necks and heart defects, which is helpful in distinguishing them from patients with Aarskog syndrome.

Treatment

There is no known cure for Aarskog syndrome. Treatment is limited to surgical procedures to treat conditions caused by the disorder and supportive treatment. Orthodontic treatment is often needed, as well.Researchers have located abnormalities in the FGD1 gene in people with this syndrome, and genetic testing for mutations in this gene may be available.

In some cases, orthodontic treatment may help certain facial and dental abnormalities caused by the disorder.

Supportive Treatment: Supportive treatment generally includes educational assistance to those afflicted with mental deficiencies. Parents often need advice and supportive treatment

There is no guaranteed prevention. Prenatal testing may be available in cases where a relative has a known mutation

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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