There are distinctive facial features, skeletal abnormalities, and developmental issues associated with Aarskog syndrome, also known as Aarskog-Scott syndrome or faciogenital dysplasia. We cover the causes, symptoms, diagnosis, treatment, and prevention of Aarskog syndrome here.
Mutations in the FGD1 gene, located on the X chromosome, cause Aarskog syndrome. The FGD1 gene is responsible for making a protein that regulates cell division and growth. Aarskog syndrome is caused by a disruption of the normal function of this protein by mutations in the FGD1 gene. Due to the fact that Aarskog syndrome is inherited in a recessive manner, it primarily affects men with only one X chromosome. Carriers of the mutated gene typically do not display symptoms, but they can pass the condition to their children.
Aarskog syndrome is characterized by the following symptoms:
It is common for people with Aarskog syndrome to have a broad forehead, widely spaced eyes (hypertelorism), a short nose with a broad tip, a wide mouth with a cleft palate or a split uvula, and a round face with a flat nasal bridge.
Skeletal abnormalities: Short stature, especially in the trunk (short-trunk dwarfism), abnormally shaped vertebrae (spine), unusually broad fingertips (brachydactyly), and joint abnormalities such as hyperextensible joints or extra fingers and toes (polydactyly) are examples of skeletal abnormalities.
Among males with Aarskog syndrome, there may be undescended testicles (cryptorchidism) or a small penis (micropenis), while females may have abnormalities of the ovaries or uterus.
Aarskog syndrome may also include developmental delays, intellectual disabilities, attention deficit hyperactivity disorder (ADHD), and behavioral problems such as social difficulties or emotional instability.
Aarskog syndrome is diagnosed based on a combination of clinical assessment, medical history, physical examination, and genetic testing. Diagnostic assessments may include:
Aarskog syndrome is diagnosed through a thorough physical examination of the facial features, skeletal structure, and other physical characteristics.
An inquiry into developmental delays, intellectual disabilities, or other associated features in the individual and their family.
Individuals with suspected or confirmed clinical features of Aarskog syndrome may undergo genetic testing to identify mutations in the FGD1 gene or related genes.
Symptoms of Aarskog syndrome are managed and associated complications are addressed. Treatment options may include:
Individuals with Aarskog syndrome may benefit from orthopedic interventions such as physical therapy, bracing, or surgical correction of skeletal abnormalities.
Therapy for speech delays, articulation difficulties, or other communication issues associated with Aarskog syndrome may include speech and language therapy.
Individuals with Aarskog syndrome and their families may benefit from psychological support, counseling, or behavioral interventions.
Aarskog syndrome patients and families may receive genetic counseling to learn about the genetic basis of the disorder, inheritance patterns, and available testing options.
As Aarskog syndrome is primarily caused by genetic mutations, there are currently no specific measures to prevent it from developing. Individuals with a family history of Aarskog syndrome or known genetic mutations associated with the disorder may, however, benefit from genetic counseling and prenatal testing to assess their risk of recurrence in future pregnancies and learn about testing options available.
