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: Identification of fractures and other physical features by a physician, often a geneticist.
Genetic testing: Confirmation of the diagnosis through genetic analysis, particularly identifying mutations affecting collagen production.
Prenatal diagnosis: Possible in severe cases through prenatal genetic testing.
Early detection and accurate diagnosis are crucial for appropriate management and support for individuals affected by Bruck Syndrome.
Currently, there is no cure for Bruck Syndrome, but various strategies aim to manage its symptoms effectively. Despite its challenges, many individuals with Bruck Syndrome lead fulfilling lives well into adulthood. Treatment focuses on minimising fractures, enhancing independent function, and promoting overall health.
An interdisciplinary approach is crucial, involving specialists such as primary care doctors, orthopedists, endocrinologists, geneticists, rehabilitation specialists, neurologists, and pulmonologists.
Fracture Care: Prompt casting, splinting, or bracing of fractures to promote proper healing and minimise immobilisation period.
Physical Therapy: Essential for expanding and maintaining functional abilities. Programs include muscle strengthening, aerobic conditioning, and adaptive devices to counteract muscle weakness.
Surgical Procedures: May be necessary for bone repairs, correcting deformities, spinal stabilisation, and improving hearing through procedures like rodding.
Medications: Off-label use of bisphosphonates to increase bone density, along with other osteoporosis treatments to prevent bone loss.
Healthy Lifestyle: Emphasises safe exercise, a balanced diet rich in essential nutrients like Vitamin D and calcium, and avoidance of habits detrimental to bone health.
Mobility Aids: Many individuals benefit from walkers, crutches, canes, and wheelchairs to facilitate independent movement.
Management of Bruck Syndrome requires ongoing care tailored to the individual’s needs, aiming to enhance quality of life and functional independence.