Definition  

Aarskog syndrome is a rare genetic disorder. It causes short stature and specific facial, limb, and genital features.

Causes  

Aarskog syndrome is an inherited disorder. It is caused by a gene mutation in the faciogenital dysplasia 1 gene (FDG1) on the X chromosome. It is passed from mothers to male children. Female children can be affected by a milder form of the disease.

Risk Factors  

Those at risk of inheriting Aarskog syndrome are male children of mothers who carry the gene for it.

Symptoms  

The main symptoms of Aarskog syndrome are:

  • Short stature
  • Abnormalities of the head and face, including:
    • Rounded face
    • Wide-set eyes
    • Slightly slanted eyes
    • Drooping eyelids
    • Small nose
    • Front-facing nostrils
    • Underdeveloped mid-portion of the face
    • 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
Cleft Lip  
Cleft lip

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Other symptoms may include:

  • A deformed scrotum
  • Undescended testicles
  • Small, wide hands and feet
  • Short fingers and toes
  • Mild webbing of fingers and toes, or crease in palm of hand
  • Mildly sunken chest
  • Navel that sticks out
  • Hyperextension of the knees
  • Intellectual disabilities
Undescended Testicle  
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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. It can be confirmed with genetic tests. X-rays of the face and skull can also be used to help make a diagnosis.

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.

Treatment may include:

Surgery  

Conditions that may be treated with surgery include:

  • Inguinal hernia
  • Cleft lip or palate
  • Undescended testicles
Orthodontics  

In some cases, orthodontic treatment may help certain facial and dental abnormalities.

Supportive Treatment  

Supportive treatment generally includes educational assistance to address learning difficulties. Parents often need advice and support.

Prevention  

There is no known way to prevent Aarskog syndrome. If you have Aarskog syndrome or have a family history of the disorder, you can talk with a genetic counselor when deciding to have children.

Researchers have located abnormalities in the FGD1 gene in people with this syndrome. Genetic testing for mutations in this gene is available.