Bruck Syndrome, also referred to as Osteogenesis Imperfecta (OI) Type XI, is a rare genetic disorder affecting bone and connective tissue. It is characterised by brittle bones prone to fractures and joint contractures that limit mobility. Bruck Syndrome can manifest early in life and is caused by genetic mutations affecting collagen production, a key component of bone and tissue structure. Although rare, it can occur spontaneously or be inherited, impacting individuals regardless of gender or ethnic background.
Bruck Syndrome presents with a range of characteristics that include:
Bone fragility: Increased susceptibility to fractures from minimal trauma.
Joint contractures: Restricted mobility due to abnormal joint development.
Short stature: Below-average height compared to peers.
Scoliosis and skeletal deformities: Abnormal curvature of the spine and other skeletal abnormalities.
Blue sclerae: Bluish tint to the whites of the eyes due to thin sclerae.
Hearing impairment: Partial or complete hearing loss, often due to abnormalities in the middle ear bones.
Dentinogenesis imperfecta: Fragile teeth prone to discoloration and breakage.
Cardiopulmonary issues: Heart and lung problems may occur in severe cases.
In addition to physical symptoms, individuals with Bruck Syndrome may experience psycho-social challenges such as anxiety and social isolation. The severity of Bruck Syndrome can vary from mild to severe forms, impacting individuals differently across their lifespan.
The diagnosis of Bruck Syndrome typically involves clinical signs, genetic testing, and sometimes prenatal diagnosis. Early detection is crucial for appropriate management.
Currently, there is no cure, but various strategies aim to manage its symptoms effectively. Treatment focuses on minimising fractures, enhancing independent function, and promoting overall health through a multi-disciplinary medical team. Approaches include fracture care, physical therapy, surgical procedures, medications, a healthy lifestyle, and the use of mobility aids.