Aarskog Syndrome

Receiving a diagnosis for a rare condition can feel overwhelming, especially when it’s one you may have never heard of, like Aarskog syndrome. This genetic disorder primarily affects males and can present a wide range of physical characteristics. Understanding what this condition is, its causes, and how it’s managed is a crucial first step for families and individuals navigating this diagnosis.

This guide provides a clear, compassionate overview of Aarskog syndrome, breaking down its genetic roots, key symptoms, and the supportive treatments available.

What Is Aarskog Syndrome?

Aarskog syndrome, also known as Aarskog-Scott syndrome or faciogenital dysplasia, is a rare genetic disorder that primarily affects males. It is characterized by a distinctive combination of features, including specific facial characteristics, short stature, and abnormalities of the limbs and genitals.

According to the NIH’s Genetic and Rare Diseases Information Center (GARD), the features of the syndrome can vary significantly from one person to another, even within the same family. While it is most prominent in males, females can sometimes be carriers and may show very mild features of the syndrome.

Common Causes of Aarskog Syndrome

Aarskog syndrome is a genetic condition, meaning it is caused by a change (mutation) in a gene and is passed down through families.

• The FGD1 Gene: The most common cause is a mutation in the FGD1 gene, which is located on the X chromosome. This gene provides instructions for making a protein that helps with bone development and other processes.
• X-Linked Inheritance: Because the gene is on the X chromosome, Aarskog syndrome follows an X-linked inheritance pattern.
  • Males have one X and one Y chromosome. If they inherit a mutated FGD1 gene on their X chromosome, they will have the syndrome.
  • Females have two X chromosomes. If they inherit the mutated gene on one X chromosome, their other normal X chromosome usually compensates. These females are “carriers” and typically have no or only very mild symptoms.

In some cases, the exact genetic cause is unknown, suggesting that mutations in other genes may also be involved.

Key Symptoms of Aarskog Syndrome

The Aarskog syndrome symptoms and physical features are often noticeable at birth or in early childhood. Key characteristics often include:

Facial Features

• Widely spaced eyes (hypertelorism)
• A small nose with nostrils that tip forward
• A broad groove above the upper lip (philtrum)
• A “widow’s peak” hairline
• Drooping eyelids (ptosis)

Skeletal and Limb Features

• Short stature (growth is often slow during childhood)
• Unusually short, broad hands and feet
• Single crease across the palm of the hand
• Short fingers (brachydactyly) and toes, sometimes with mild webbing

Genital Features (in Males)

• A “shawl scrotum,” where the scrotum (sac containing the testes) surrounds the base of the penis
• Undescended testicles (cryptorchidism)
• A bulge in the groin area (inguinal hernia)

Other potential symptoms can include dental problems, mild cognitive delays (though intelligence is often normal), and, less commonly, heart defects.

Diagnosis of Aarskog Syndrome

Diagnosing Aarskog syndrome is typically based on a clinical evaluation by a healthcare provider or a geneticist. The diagnosis involves:

1. Physical Examination: A doctor will look for the combination of characteristic physical features of the face, limbs, and genitals.
2. Family History: A review of the family’s medical history is taken to see if other members (especially males) have shown similar features, which would suggest an X-linked inheritance pattern.
3. Genetic Testing: As noted by MedlinePlus, an NIH service, a diagnosis can often be confirmed through genetic testing that identifies a mutation in the FGD1 gene. However, not everyone with Aarskog syndrome will have a detectable mutation in this gene.

Treatment Options for Aarskog Syndrome

There is no cure for Aarskog syndrome, as it is a genetic condition. Treatment is focused on managing the specific symptoms and supporting the individual’s health and development.

Treatment plans are personalized and may include:

• Surgical Procedures: Surgery may be recommended to correct some of the physical abnormalities, such as:
  • Repairing hernias
  • Correcting undescended testicles (orchiopexy)
  • Addressing certain dental or facial issues
• Growth Hormone Therapy: For individuals with significant short stature, growth hormone (GH) treatment may be considered to help improve growth and final adult height.
• Orthodontic Care: Dental issues, such as delayed tooth eruption or misaligned teeth (malocclusion), are common and may require monitoring and treatment by an orthodontist.
• Developmental Support: For children experiencing developmental or learning delays, early intervention services, special education, and speech therapy can provide crucial support.

Living with Aarskog Syndrome (Prognosis)

The long-term outlook (prognosis) for individuals with Aarskog syndrome is generally good. Most people with this condition have a normal life expectancy and normal intelligence.

While the physical features may be prominent in childhood, they often become less apparent as the individual matures. The primary challenges are typically related to managing the specific physical or developmental symptoms that arise.

When to See a Doctor

You should consult your pediatrician or healthcare provider if you notice:

• Your child has a combination of the physical features described above (e.g., widely spaced eyes, short stature, and genital abnormalities).
• Your child is experiencing significant growth delays compared to their peers.
• You have a family history of Aarskog syndrome and are planning to have children.

A doctor can perform a thorough evaluation. If Aarskog syndrome is suspected, they will likely refer you to a clinical geneticist or a genetic counselor for a comprehensive assessment, confirmation, and discussion of what the diagnosis means for your family.

Disclaimer: This article is for informational purposes only and does not constitute medical advice. Always consult with a qualified healthcare professional for any health concerns or before making any decisions related to your health or treatment.

Published on May 31, 2022 and Last Updated on November 8, 2025 by: Priyank Pandey