Waaler–Aarskog syndrome

Waaler–Aarskog syndrome, also known as Aarskog–Scott syndrome, is a rare genetic disorder characterized by facial, limb, and genital anomalies. This condition is primarily known to affect males, but some females may present with milder symptoms. The syndrome is named after the Norwegian pediatrician Dagfinn Aarskog who first described it in 1970, and the American pediatrician Charles I. Scott, Jr., who independently described it in the same year.

Symptoms and Characteristics

Waaler–Aarskog syndrome is marked by a distinctive set of physical features and developmental anomalies. Key symptoms include:

• Facial Features: Individuals may have a rounded face with a broad forehead. Distinctive facial characteristics include widely spaced eyes (Hypertelorism), drooping eyelids (Ptosis), a short nose with nostrils that are tilted forward, and a widow's peak hairline.
• Limb Anomalies: Short stature is common, along with short hands and feet. The fingers may be webbed or fused (Syndactyly), and there may be a single crease across the palm.
• Genital Anomalies: Males often have a shawl scrotum, where the scrotum surrounds the penis rather than hanging below. Cryptorchidism, or undescended testicles, is also common.
• Other Features: Some individuals may exhibit heart defects, mild intellectual disability, or delayed growth and development.

Genetics

Waaler–Aarskog syndrome is thought to be linked to mutations in the FGD1 gene, which is located on the X chromosome. This gene plays a crucial role in the development of tissues and organs, including those affected by the syndrome. Because it is X-linked, males are more frequently and severely affected than females. Females may be carriers of the condition and can pass the mutated gene to their offspring.

Diagnosis

Diagnosis of Waaler–Aarskog syndrome is primarily based on the physical characteristics and symptoms presented by the individual. Genetic testing can confirm mutations in the FGD1 gene, providing a definitive diagnosis. Early diagnosis is crucial for managing symptoms and providing appropriate care and support.

Treatment and Management

There is no cure for Waaler–Aarskog syndrome, but treatment is focused on managing symptoms and improving quality of life. This may include:

• Surgical interventions for correcting physical anomalies, such as cryptorchidism or heart defects.
• Supportive therapies, including physical therapy, occupational therapy, and speech therapy, to address developmental delays.
• Regular monitoring and care from a multidisciplinary team of healthcare providers, including pediatricians, geneticists, and specialists in cardiology, orthopedics, and endocrinology.

Prognosis

The prognosis for individuals with Waaler–Aarskog syndrome varies depending on the severity of symptoms and the presence of associated health issues. With appropriate care and support, many individuals can lead relatively normal lives.

See Also

• Genetic disorder
• X-linked recessive inheritance
• Cryptorchidism
• Syndactyly

Waaler–Aarskog syndrome Resources
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