Familial synovial chondromatosis with dwarfism

Familial Synovial Chondromatosis with Dwarfism is a rare genetic disorder characterized by the development of non-cancerous cartilage growths (chondromas) within the joints, accompanied by dwarfism. This condition falls under the broader category of synovial chondromatosis, which typically affects the knee, hip, and elbow joints, but distinguishes itself through its familial occurrence and association with short stature.

Symptoms and Diagnosis

The primary symptoms of Familial Synovial Chondromatosis with Dwarfism include the formation of multiple chondromas within the synovial joints, leading to pain, swelling, and reduced joint mobility. The presence of dwarfism, characterized by significantly shorter stature than average for the individual's age and gender, is a key distinguishing feature of this variant of synovial chondromatosis.

Diagnosis is typically made through a combination of clinical examination, medical history evaluation, and imaging tests such as X-rays, MRI (Magnetic Resonance Imaging), or CT scan (Computed Tomography) to visualize the chondromas and assess their impact on the joints.

Genetic Aspects

While the exact genetic cause of Familial Synovial Chondromatosis with Dwarfism remains unclear, its familial occurrence suggests a genetic component. It is believed to follow an autosomal dominant inheritance pattern, where a single copy of the altered gene in each cell is sufficient to cause the disorder. However, further research is needed to identify specific genes involved.

Treatment

Treatment for Familial Synovial Chondromatosis with Dwarfism focuses on managing symptoms and improving joint function. Options may include:

• Pain management strategies, such as NSAIDs (Non-Steroidal Anti-Inflammatory Drugs) for pain and swelling.
• Physical therapy to maintain or improve joint mobility and muscle strength.
• Surgical intervention to remove the chondromas, which may be necessary if they cause significant pain, restrict joint movement, or lead to other complications.

Prognosis

The prognosis for individuals with Familial Synovial Chondromatosis with Dwarfism varies. Surgical removal of chondromas can provide significant relief from symptoms, but there is a risk of recurrence. Ongoing management may be required to address joint pain, mobility issues, and other complications.

See Also

• Chondroma
• Dwarfism
• Synovial chondromatosis
• Genetic disorders
• Rare diseases

NIH genetic and rare disease info

• NIH info on Familial synovial chondromatosis with dwarfism

Familial synovial chondromatosis with dwarfism is a rare disease.