Aarskog syndrome

Aarskog Syndrome

Aarskog syndrome, also known as Aarskog-Scott syndrome, is a rare genetic disorder characterized by a distinctive set of physical and developmental features. It primarily affects males, although females can be carriers of the genetic mutation. The syndrome is named after Dagfinn Aarskog, a Norwegian pediatrician, and Charles I. Scott, Jr., an American medical geneticist, who independently described the condition.

Genetics

Aarskog syndrome is caused by mutations in the FGD1 gene, which is located on the X chromosome. The FGD1 gene provides instructions for making a protein that is involved in the regulation of the actin cytoskeleton, which is important for cell shape and movement. The disorder is inherited in an X-linked recessive pattern, meaning that males are typically affected, while females are usually carriers.

Clinical Features

Individuals with Aarskog syndrome may exhibit a variety of clinical features, which can vary in severity. Common characteristics include:

Facial Features

• Hypertelorism (widely spaced eyes)
• Ptosis (drooping eyelids)
• Downturned palpebral fissures
• Broad nasal bridge
• Philtrum (long area between the nose and upper lip)

Skeletal Abnormalities

• Brachydactyly (short fingers and toes)
• Clinodactyly (curved fingers)
• Short stature
• Pectus excavatum (sunken chest)

Genitourinary Anomalies

• Cryptorchidism (undescended testicles)
• Shawl scrotum

Developmental Delays

• Mild to moderate intellectual disability
• Delayed motor skills

Diagnosis

The diagnosis of Aarskog syndrome is based on clinical evaluation, family history, and genetic testing. A healthcare provider may suspect the condition based on the presence of characteristic physical features and developmental delays. Genetic testing can confirm the diagnosis by identifying mutations in the FGD1 gene.

Management

There is no cure for Aarskog syndrome, and treatment is focused on managing the symptoms and improving quality of life. Management strategies may include:

• Physical therapy to improve motor skills
• Occupational therapy to assist with daily activities
• Speech therapy for communication difficulties
• Orthopedic interventions for skeletal abnormalities
• Surgical correction for cryptorchidism

Prognosis

The prognosis for individuals with Aarskog syndrome varies depending on the severity of symptoms. With appropriate management and support, many individuals can lead relatively normal lives. However, some may experience ongoing challenges related to intellectual and developmental disabilities.

See Also

• Genetic disorders
• X-linked inheritance
• Developmental delay

External Links

• [Aarskog Syndrome Foundation]
• [Genetic and Rare Diseases Information Center]