Ruijs-Aalfs syndrome

Ruijs-Aalfs syndrome is a rare genetic disorder characterized by early-onset cirrhosis of the liver, hypercholesterolemia (elevated levels of cholesterol in the blood), and often accompanied by developmental delay and intellectual disability. The syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the condition.

Causes

Ruijs-Aalfs syndrome is caused by mutations in the YY1AP1 gene. This gene plays a crucial role in DNA repair and cell cycle regulation. Mutations in YY1AP1 disrupt these processes, leading to the symptoms observed in the syndrome. The exact mechanism by which these mutations lead to the specific features of the syndrome is still under investigation.

Symptoms

The primary symptoms of Ruijs-Aalfs syndrome include:

• Early-onset cirrhosis of the liver, which can lead to liver failure.
• Hypercholesterolemia, which increases the risk of developing cardiovascular diseases.
• Developmental delay and intellectual disability, varying in severity among affected individuals.

Other possible symptoms may include growth retardation, skeletal abnormalities, and distinctive facial features, although these are less commonly reported.

Diagnosis

Diagnosis of Ruijs-Aalfs syndrome is based on the clinical presentation of the symptoms, family history, and confirmed through genetic testing. Genetic testing can identify mutations in the YY1AP1 gene, confirming the diagnosis.

Treatment

There is no cure for Ruijs-Aalfs syndrome, and treatment is symptomatic and supportive. Management of the condition may include:

• Regular monitoring and management of liver function to address cirrhosis.
• Medications to control cholesterol levels.
• Supportive therapies for developmental delay and intellectual disability, such as special education and physical therapy.

Prognosis

The prognosis for individuals with Ruijs-Aalfs syndrome varies depending on the severity of the symptoms and the effectiveness of the management strategies. Early diagnosis and intervention can improve the quality of life for affected individuals.

See also

• Genetic disorder
• Cirrhosis
• Hypercholesterolemia
• Autosomal recessive inheritance