Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare genetic disorder characterized by a combination of physical abnormalities and symptoms. The syndrome was first described in the medical literature in 1982 by Dr. Jacques Drenth and Dr. John Winchester, who identified the condition in a family of Middle Eastern descent.
Symptoms and Characteristics[edit | edit source]
The primary characteristics of CACP syndrome include camptodactyly, arthropathy, coxa vara, and pericarditis.
- Camptodactyly refers to a medical condition where the fingers are permanently bent. In the case of CACP syndrome, this typically affects the little fingers and can be present from birth.
- Arthropathy is a general term for any disease of the joints. In CACP syndrome, this often presents as non-inflammatory joint disease, leading to joint deformities and limitations in movement.
- Coxa vara is a deformity of the hip, where the angle between the head and the shaft of the femur is reduced, causing a decrease in the angle between the hip and the knee. This can lead to a noticeable limp and reduced mobility.
- Pericarditis is inflammation of the pericardium, the sac-like covering around the heart. This can cause chest pain and other symptoms related to heart function.
Causes[edit | edit source]
CACP syndrome is caused by mutations in the PRG4 gene. This gene provides instructions for making a protein called lubricin, which is found in joint fluid and on the surface of cartilage, and helps to reduce friction between the bones in a joint during movement.
Diagnosis and Treatment[edit | edit source]
Diagnosis of CACP syndrome is based on the presence of the characteristic signs and symptoms. Genetic testing can confirm a diagnosis by identifying a mutation in the PRG4 gene.
There is currently no cure for CACP syndrome. Treatment is focused on managing the symptoms and improving quality of life. This may include physical therapy, pain management, and in some cases, surgery to correct joint deformities.
See Also[edit | edit source]
References[edit | edit source]
NIH genetic and rare disease info[edit source]
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
