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Bruck Syndrome

Disease Details

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Description: Bruck syndrome is a rare genetic disorder characterized by congenital joint contractures and brittle bones, often leading to fractures.
Type: Bruck syndrome is primarily classified into two types: Bruck syndrome 1 and Bruck syndrome 2. It is inherited in an autosomal recessive manner.
Signs And Symptoms: Bruck syndrome is a rare genetic disorder that combines features of osteogenesis imperfecta (brittle bone disease) with congenital joint contractures.

**Signs and Symptoms:**
1. **Frequent Bone Fractures:** Individuals often experience multiple fractures due to fragile bones.
2. **Joint Contractures:** Limited range of motion in joints, particularly in elbows, knees, hips, and ankles.
3. **Short Stature:** Affected children may have significantly shorter height than average.
4. **Bone Deformities:** Bowing of long bones or spinal abnormalities.
5. **Blue Sclerae:** The whites of the eyes may appear blue or gray.
6. **Hearing Loss:** Some individuals may develop hearing impairment due to middle ear bone malformations.
7. **Dentinogenesis Imperfecta:** Abnormal tooth development, leading to discolored, brittle teeth in some cases.
Prognosis: Bruck syndrome is a rare genetic disorder characterized by bone fragility and joint contractures. The prognosis for individuals with Bruck syndrome is variable and depends on the severity of symptoms and associated complications. While some individuals may lead relatively normal lives with appropriate management and intervention, others may experience significant physical limitations and require ongoing medical care. The condition can result in frequent fractures, reduced mobility, and potential complications from associated deformities and contractures. Early diagnosis and multidisciplinary management are crucial for optimizing outcomes.
Onset: Bruck syndrome typically has its onset in early childhood. It is a rare connective tissue disorder characterized by congenital joint contractures and bone fragility. The term "nan" is not applicable or relevant in the context of diagnosing or describing the onset of Bruck syndrome.
Prevalence: The prevalence of Bruck syndrome is not well-documented due to its rarity, but it is considered an extremely rare genetic disorder.
Epidemiology: Bruck syndrome is a rare genetic disorder with limited epidemiological data due to its scarcity. It is characterized by bone fragility and joint contractures. The exact prevalence is unknown, but cases have been reported worldwide. It is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell have mutations. Families with a history of consanguinity may have a higher incidence. There is no known ethnic or geographical predominance for Bruck syndrome.
Intractability: Bruck syndrome is considered intractable in the sense that there is no cure for the condition. Management focuses on symptomatic relief, preventing complications, and improving quality of life through supportive care, such as physiotherapy, orthopedic interventions, and in some cases, surgery.
Disease Severity: Bruck syndrome is a rare genetic disorder characterized by brittle bones due to osteogenesis imperfecta and joint contractures. The severity of the disease can vary widely. Some individuals might experience frequent fractures and significant physical limitations, while others have milder symptoms. Severity generally depends on the specific genetic mutation and its impact on bone and joint health.
Healthcare Professionals: Disease Ontology ID - DOID:0060231
Pathophysiology: Bruck syndrome is a rare genetic disorder characterized by a combination of bone fragility (osteogenesis imperfecta) and congenital joint contractures. The pathophysiology primarily involves mutations in the FKBP10 or PLOD2 genes, which are essential for the proper formation and maintenance of collagen, a key structural protein in connective tissues. These mutations lead to defects in the extracellular matrix, resulting in brittle bones and abnormal tendon structure that manifest as joint contractures and frequent fractures.
Carrier Status: Bruck syndrome is a genetic disorder characterized by brittle bones and joint contractures. Carrier status refers to individuals who carry one copy of the mutated gene associated with Bruck syndrome but do not exhibit symptoms of the disease. These carriers can pass the gene to their offspring, who may be affected if they inherit two copies of the mutated gene.
Mechanism: Type 1 encodes FKBP65, an endoplasmic reticulum associated peptidyl-prolyl cis/trans isomerase (PPIase) that functions as a chaperone in collagen biosynthesis. Osteoblasts deficient in FKBP65 have a buildup of procollagen aggregates in the endoplasmic reticulum which reduces their ability to form bone. Furthermore, Bruck syndrome type 1 patients have under-hydroxylated lysine residues in the collagen telopeptide and as a result show diminished hydroxylysylpyridinoline cross-links.Type 2 encodes the enzyme, lysyl hydroxylase 2, which catalyzes hydroxylation of lysine residues in collagen cross-links. PLOD2 is most expressed in active osteoblasts since collagen cross-linking is tissue-specific. Mutation in PLOD2 alters the structure of telopeptide lysyl hydroxylase and prevents fibril formation of collagen type 1. Bone analysis shows the lysine residues of telopeptides in collagen type 1 are under-hydroxylated.
Treatment: Bruck syndrome is a rare genetic disorder characterized primarily by brittle bones and joint contractures. There is no cure, but treatment focuses on managing symptoms and preventing complications. This typically involves:

1. **Orthopedic Management**: Preventing fractures, using braces, and sometimes surgical interventions to correct bone deformities.
2. **Physical Therapy**: Improving joint mobility and muscle strength.
3. **Medications**: Bisphosphonates can be prescribed to increase bone density and reduce fracture risk.
4. **Pain Management**: Addressing chronic pain associated with fractures and joint issues.

Close monitoring by a team of specialists is often necessary for comprehensive care.
Compassionate Use Treatment: Bruck syndrome is a rare genetic disorder characterized by bone fragility and contractures. There are no specific treatments approved exclusively for Bruck syndrome. However, some experimental and off-label treatments used include:

1. **Bisphosphonates** (e.g., pamidronate, zoledronic acid): Primarily used to treat osteoporosis, these drugs may help improve bone density and reduce fracture risk in Bruck syndrome.
2. **Vitamin D and Calcium Supplements**: These can aid in maintaining bone health.
3. **Physical Therapy**: Helps manage and prevent joint contractures.
4. **Surgical Interventions**: For severe deformities or fractures that require correction.

Compassionate use of investigational drugs may also be considered if the treating physician believes it could be beneficial.
Lifestyle Recommendations: For managing Bruck Syndrome, the following lifestyle recommendations can be considered:

1. **Physical Activity**: Engage in low-impact exercises to maintain muscle strength and flexibility while minimizing the risk of fractures.
2. **Nutrition**: Ensure a diet rich in calcium and vitamin D to support bone health.
3. **Adaptive Devices**: Use mobility aids such as wheelchairs, crutches, or braces to enhance mobility and reduce the risk of falls.
4. **Regular Check-Ups**: Schedule routine medical appointments for monitoring bone health and overall physical status.
5. **Safe Environment**: Modify the home environment to reduce fall hazards and ensure ease of movement.

It is important to consult with healthcare professionals for personalized recommendations.
Medication: Bruck syndrome is a rare genetic disorder characterized by bone fragility and joint contractures. Currently, there is no specific medication to cure Bruck syndrome. Treatment primarily focuses on managing symptoms and may include:

1. **Bisphosphonates**: These medications can help strengthen bones and reduce the risk of fractures.
2. **Pain Management**: Analgesics and other pain relief medications to manage discomfort from fractures or joint contractures.
3. **Physical Therapy**: To improve joint mobility and muscle strength.
4. **Orthopedic Interventions**: Surgery may be necessary to correct bone deformities or severe contractures.

Management of the condition requires a multidisciplinary approach involving orthopedic specialists, geneticists, and physical therapists.
Repurposable Drugs: Bruck syndrome is a rare genetic disorder characterized by brittle bones, joint contractures, and other skeletal abnormalities. No repurposable drugs are currently well-established specifically for Bruck syndrome, but some treatments focus on managing symptoms. Bisphosphonates, typically used for osteoporosis, may be considered to increase bone strength. Further research is needed to identify and confirm effective drug repurposing options for this condition.
Metabolites: Bruck syndrome is a rare genetic disorder characterized by bone fragility and joint contractures. It is primarily associated with mutations in the FKBP10 or PLOD2 genes. Regarding metabolites, there isn't a specific metabolic profile directly associated with Bruck syndrome. However, the disorder involves issues with collagen cross-linking due to faulty enzymatic activity, which can affect various biochemical pathways related to collagen and connective tissue.
Nutraceuticals: Bruck syndrome is a rare genetic disorder characterized by bone fragility and joint contractures. It is primarily managed through orthopaedic interventions and physical therapy. Currently, there is no established nutraceutical (nutrition-based pharmaceutical) treatment specifically for Bruck syndrome. Management focuses on supportive care to improve quality of life and function.
Peptides: Bruck Syndrome is a rare genetic disorder characterized by a combination of bone fragility and congenital joint contractures. To date, there is limited research specifically focused on the role of peptides in the treatment or understanding of Bruck Syndrome. Most therapeutic approaches for Bruck Syndrome focus on managing symptoms and improving quality of life through physical therapy, orthopedic interventions, and bisphosphonate treatment. Further research would be needed to explore any potential peptide-based therapies for this condition.