Cerebro facio articular syndrome

Cerebro Facio Articular Syndrome (CFAS) is a rare genetic disorder that affects multiple systems in the body. It is characterized by intellectual disability, distinctive facial features, and joint abnormalities.

Symptoms

The symptoms of CFAS can vary greatly from person to person. However, some common symptoms include:

• Intellectual disability: This is a common feature of CFAS. Individuals with this syndrome often have significant learning difficulties and may require special education services.
• Facial dysmorphism: Individuals with CFAS often have distinctive facial features. These can include a broad forehead, wide-set eyes, a small nose with a broad bridge, and a thin upper lip.
• Joint abnormalities: These can include joint stiffness, joint pain, and limited range of motion. In some cases, individuals with CFAS may also have joint dislocations.

Causes

CFAS is caused by mutations in the genes that provide instructions for making proteins that are involved in the development and function of the brain, face, and joints. These mutations disrupt the normal development and function of these areas, leading to the symptoms of CFAS.

Diagnosis

Diagnosis of CFAS is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying mutations in the genes associated with CFAS.

Treatment

There is currently no cure for CFAS. Treatment is supportive and based on the symptoms present in each individual. This can include physical therapy for joint abnormalities, special education services for intellectual disability, and medical management for any other health problems that may arise.

Prognosis

The prognosis for individuals with CFAS varies depending on the severity of symptoms. With appropriate support and treatment, many individuals with CFAS can lead fulfilling lives.

See also

• Genetic disorder
• Intellectual disability
• Facial dysmorphism
• Joint abnormalities

NIH genetic and rare disease info

• NIH info on Cerebro facio articular syndrome

Cerebro facio articular syndrome is a rare disease.

Cerebro facio articular syndrome Resources
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