SNP Shot: Genomic Insights

Familial osteochondritis dissecans is a joint disorder characterized by cartilage abnormalities. Cartilage, a resilient tissue, cushions bone ends within joints and is crucial for skeletal development. In this condition, lesions develop due to cartilage and underlying bone fragments detaching from bone ends at multiple joints, typically the knees, elbows, hips, and ankles. This detachment leads to joint stiffness, pain, swelling, and a sensation of catching or locking during movement. Additional features of familial osteochondritis dissecans include short stature and the premature onset of osteoarthritis, a degenerative joint disease involving cartilage breakdown, pain, stiffness, and restricted movement.

Sporadic osteochondritis dissecans, a related condition, involves a single lesion, usually in the knee. It's often linked to joint injury or overuse, particularly in sports. Some individuals with sporadic osteochondritis dissecans may develop osteoarthritis in the affected joint, particularly if the lesion occurs after skeletal maturity. Unlike the familial form, short stature is not a characteristic of sporadic osteochondritis dissecans.

Inheritance:

Familial osteochondritis dissecans follows an autosomal dominant inheritance pattern. This means that inheriting only one copy of the gene with the disease-causing mutation is enough to cause the condition.