Aarskog Syndrome Awareness Day Date in the current year: September 29, 2025

Aarskog syndrome, also known as Aarskog-Scott syndrome or faciogenital dysplasia, is caused by mutations in the FDG1 gene. This gene encodes a protein that activates another protein important for various aspects of prenatal and postnatal development. However, only about one-fifth of people diagnosed with Aarskog syndrome have identifiable mutations in the FDG1 gene. In the remaining cases, the cause of the disease is unknown.

Aarskog syndrome has an X-linked recessive pattern of inheritance. This means it is passed down from the mother and primarily affects males since they have only one X chromosome. Females have two X chromosomes and must inherit a mutated X chromosome from each parent to develop the syndrome. However, females may exhibit mild symptoms of the syndrome. Aarskog syndrome is a rare disorder with an unknown prevalence.

People with Aarskog syndrome commonly have distinctive facial features, including a small nose, a long philtrum (the area between the nose and upper lip), widely spaced eyes, low-set ears, a drooping lower lip, and a V-shaped hairline (a widow’s peak). Other possible abnormalities include hand abnormalities (e.g., short fingers, curved pinky fingers, fused fingers, and a single crease across the palm), broad and flat feet, a cleft lip (with or without a cleft palate), and heart defects.

Most males with Aarskog syndrome have a condition called shawl scrotum, in which the scrotum surrounds the penis rather than hanging below it. Less commonly, they have cryptorchidism (undescended testicles), an umbilical hernia, or a groin hernia. Many patients have a short stature during childhood but catch up in height with their peers during puberty.

Intellectual development may or may not be affected in individuals with Aarskog syndrome. Some patients have normal intellect and social skills, some have mild intellectual disability and behavioral problems such as ADHD, and a few have severe intellectual disability.

Like most genetic diseases, Aarskog syndrome cannot currently be cured because it is caused by changes in a person’s DNA. Treatment focuses on managing symptoms to improve quality of life. It may include surgery and orthodontic treatment to correct some of the anomalies. Growth hormone treatment may be used to address restricted growth. Patients with learning difficulties may benefit from early intervention.

Individuals with Aarskog syndrome typically have a good prognosis and close to normal life expectancy. However, some individuals with the syndrome may experience fertility problems.

Aarskog Syndrome Awareness Day was created to educate healthcare professionals and the public about this rare disorder, provide support for those affected and their families, and encourage further research into a cure. It is primarily observed in the UK because it was established by the UK-based Aarskog Foundation.