Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (CACP) is a rare genetic disorder characterized by camptodactyly (permanent flexion of the fingers), arthropathy (joint inflammation), coxa vara (abnormal angulation of the hip joint), and pericarditis (inflammation of the sac surrounding the heart). It is caused by a mutation in the gene encoding the protein filamin A. Symptoms may include joint pain, stiffness, and limited range of motion. Treatment typically involves physical therapy, medications, and surgery.

The symptoms of Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (CACP) vary from person to person, but may include:

• Camptodactyly (permanent flexion of the fingers and toes)

• Arthropathy (Joint Pain and swelling)
• Coxa vara (abnormal angulation of the hip joint)
• Pericarditis (Inflammation of the sac surrounding the heart)
• Abnormal gait
• Short stature
• Abnormal facial features
• Intellectual disability
• Cardiac abnormalities
• Abnormalities of the eyes, ears, and teeth
• Abnormalities of the urinary tract
• Abnormalities of the gastrointestinal tract

Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (CACP) is a rare genetic disorder caused by mutations in the gene encoding the protein filamin A (FLNA). Mutations in this gene can lead to a wide range of symptoms, including camptodactyly (permanent flexion of the fingers), arthropathy (joint pain and swelling), coxa vara (abnormal curvature of the thigh bone), and pericarditis (inflammation of the lining of the heart). The exact cause of CACP is unknown, but it is believed to be inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary for a person to be affected by the disorder.

The treatments for Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome (CACP) vary depending on the severity of the symptoms. Generally, treatment focuses on managing the symptoms and preventing further complications. This may include physical therapy, occupational therapy, and medications to reduce inflammation and pain. Surgery may be recommended in some cases to correct the deformity of the bones and joints. In addition, lifestyle modifications such as avoiding activities that put strain on the affected joints and maintaining a healthy weight can help reduce symptoms.

1. Genetic predisposition: Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome is an inherited disorder caused by a mutation in the COL2A1 gene.

2. Age: The syndrome is more common in children and adolescents.

3. Gender: Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome is more common in males than females.

4. Family history: Individuals with a family history of the disorder are at an increased risk of developing the syndrome.

Unfortunately, there is no known cure for Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. Medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids may be used to reduce inflammation and pain. Physical therapy may also be recommended to help improve range of motion and strength. Surgery may be necessary to correct any deformities or joint instability.