OBSOLETE: Aggrecan-related bone disorder

Aggrecan-related bone disorder is a group of skeletal conditions caused by changes (mutations) in the ACAN gene, which provides instructions for making a protein called aggrecan. Aggrecan is a major building block of cartilage — the tough, flexible tissue that cushions joints and forms the framework for bones to grow during childhood. When this protein does not work properly, it can lead to problems with bone growth and joint health. Note: This specific Orphanet entry (364817) is labeled as 'OBSOLETE,' meaning it has been retired and replaced by more specific disease classifications. The conditions previously grouped under this term have been reclassified into distinct diagnoses, including spondyloepiphyseal dysplasia (aggrecan type), short stature with advanced bone age, and familial osteochondritis dissecans. Patients who were previously given this diagnosis should work with their geneticist to determine which updated classification best fits their condition. Common features across aggrecan-related bone disorders include short stature, early-onset joint problems (such as osteoarthritis), and abnormalities in the growth plates of bones. Some individuals may also experience midface flattening and early maturation of the skeleton (advanced bone age). The severity can vary widely, even within the same family. Treatment is generally supportive and may include growth hormone therapy for short stature, pain management, physical therapy, and orthopedic interventions for joint problems. There is currently no cure that addresses the underlying genetic cause.

Bring these to your next appointment

• Q1.Which specific type of aggrecan-related bone disorder does my child have, given that the original classification is now obsolete?,Would growth hormone therapy be beneficial, and what results can we realistically expect?,How often should we have X-rays or other imaging to monitor bone and joint health?,What types of physical activities are safe, and which should be avoided?,At what point should we consider orthopedic surgery for joint problems?,Should other family members be tested for the ACAN gene mutation?,Are there any clinical trials or new treatments being studied for this condition?

Common questions about OBSOLETE: Aggrecan-related bone disorder

Related conditions

Other rare diseases commonly researched alongside OBSOLETE: Aggrecan-related bone disorder.

• Familial osteochondritis dissecans→