Brocade syndrome in children causes symptoms and treatment methods

Bruck syndrome in children is a rare genetic condition that affects the growth of bones and joints, causing issues such as short stature and deformities in the hands or feet. Understanding its causes, symptoms, and early diagnostic methods helps parents monitor their children properly, reduce complications, and improve their daily quality of life. In this Medically Guide article, we will explore all the details in a simple and easy-to-understand way.

What is Bruck Syndrome?
Bruck syndrome is a rare genetic disorder that affects bone and joint growth, which can lead to short stature, limb deformities, and sometimes abnormalities in other organs.
Causes of Bruck Syndrome
The condition is usually caused by inherited genetic mutations from one or both parents.
In rare cases, the mutation may occur spontaneously without a family history.
Common Symptoms

Short stature compared to other children.
Bone deformities, especially in the hands and feet.
Joint problems or abnormal growth of internal bones.
Occasionally, heart or kidney issues depending on the severity.

Do all children show the same symptoms?
No, symptoms vary depending on the severity of the syndrome and the affected gene. Some children have very mild symptoms, while others show noticeable signs from birth.
How is Bruck Syndrome diagnosed?

Clinical examination to monitor growth and bone deformities.
Imaging tests and lab analyses to assess bones and joints.
Genetic testing to identify the responsible mutation and confirm the diagnosis.

Can Bruck Syndrome be treated?
There is no definitive cure, but treatment focuses on improving the child’s quality of life:

Therapeutic exercises to strengthen muscles and joints.
Surgery to correct bone deformities if needed.
Supporting growth with proper nutrition.

Can Bruck Syndrome be prevented?
Genetic mutations cannot be prevented, but risks can be reduced through:

Genetic screening before pregnancy.
Early prenatal monitoring with a specialized doctor.

Can children attend school and play sports?
Yes, most children can attend school and participate in activities, but under medical supervision if they have joint problems or fragile bones.
Does the syndrome affect daily life?
It may limit some intense physical activities, so psychological and social support is important to help the child adapt.
Is Bruck Syndrome contagious?
No, it is genetic and not contagious. The child cannot transmit it to others.
Do symptoms worsen with age?
Yes, some deformities or growth problems may become more noticeable as the child grows, especially bone and joint issues.
Do all children need surgery?
No, some children may require surgical intervention for deformities, while others can improve with physical therapy alone.
Does the syndrome affect the child’s final height?
Yes, short stature is a common symptom, varying with the severity and the specific gene involved.
Can complications be prevented?
Yes, through early diagnosis, physical therapy, proper nutrition, and regular follow-ups to reduce bone and joint problems.
Does Bruck Syndrome affect mental abilities?
Usually not. Most children have normal intelligence, though some may need psychological or social support.
Can children exercise normally?
Yes, but activities should be carefully chosen to avoid stressing bones and joints. Some children may require additional support or special equipment during sports.
Are there new studies for treatment?
Yes, current research focuses on:

Gene therapy to correct the genetic mutations.
Improving physical therapy and surgical methods to reduce complications.
Enhancing the quality of life for affected children.

Causes of Bruck Syndrome in Children
Bruck Syndrome is a rare genetic disorder affecting bones and joints, primarily causing fragile bones and frequent fractures. Main causes include:

Inherited Genetic Mutations: Often due to mutations in the PLOD2 or FKBP10 genes, responsible for producing normal collagen in bones and connective tissues. The child must inherit a defective copy from both parents (autosomal recessive inheritance).
Collagen Production Defects: Collagen is essential for strong bones and tissues. In Bruck syndrome, collagen is weak or abnormal, making bones fragile and prone to fractures.
Autosomal Recessive Inheritance: Most cases follow this pattern. A child inheriting only one defective gene usually becomes a carrier without obvious symptoms.
Rare De Novo Mutations: Occasionally, a new mutation occurs in the child without family history, though this is very rare.

Symptoms of Bruck Syndrome in Children

Fragile Bones and Frequent Fractures: Bones are weak and can break easily, even with minor injuries or normal daily activities. Some children experience repeated fractures from birth or early childhood.
Joint Deformities: Stiff or contracted joints (contractures), especially in the knees and elbows.

Difficulty in movement or fully extending joints

Slow growth or short stature
The child’s height may be below the average compared to other children of the same age.

Dental and jaw problems (in some cases)
Delayed tooth eruption or fragile teeth.
Jaw shape may sometimes appear abnormal.

Muscle weakness
Muscles can be weak due to skeletal deformities or limited mobility.

Types of Bruck Syndrome in Children
Bruck Syndrome in children is not a single type; it has two main types based on the affected gene and inheritance pattern:

Type 1: FKBP10-related

The most common type among affected children.
Mutation in the FKBP10 gene affects collagen production in bones and joints.
Symptoms: fragile bones, frequent fractures, and joint deformities such as stiffness in knees and elbows.

Type 2: PLOD2-related

Less common than Type 1.
Mutation affects collagen cross-linking, making bones and joints extremely fragile.
Symptoms: multiple fractures from early childhood, joint stiffness, and sometimes dental or jaw problems.

Note: Severity and speed of complications vary between children. Genetic testing is essential to identify the type and plan appropriate treatment.

Stages of Bruck Syndrome in Children
The syndrome doesn’t have fixed stages, but its progression can be outlined according to symptoms and complications:

Early stage (infancy and early childhood)

Fractures occur easily even with minor injuries.
Bone fragility is noticeable from birth or early months.
Joint deformities may be present at birth, especially in knees and elbows.

Middle childhood (approximately 3–10 years)

Recurrent fractures with slower healing.
Increased joint stiffness and difficulty with normal movement.
Short stature or slower growth becomes noticeable.

Adolescence

Ongoing bone fragility and frequent fractures, especially during physical activity.
Growth and muscle issues become more apparent.
Some children may require corrective surgeries for bones or joints.

Adulthood and young adulthood

Bone fragility may stabilize with proper treatment and support.
Joint problems may affect mobility or the ability to participate in sports.
Some cases require continuous monitoring for fractures or joint issues.

Complications of Bruck Syndrome in Children

Fragile bones and frequent fractures

Bones are extremely fragile, leading to repeated fractures even with minor impacts.
Can cause chronic pain and affect daily mobility.

Joint problems

Stiffness in joints, especially knees and elbows.
Difficulty moving or fully bending joints.
Sometimes surgical correction is needed.

Slow growth and short stature

Height below normal for age.
Muscle weakness due to limited movement or skeletal deformities.

Dental and jaw issues

Delayed tooth eruption or fragile teeth.
Jaw shape may occasionally be abnormal.

Long-term complications

Continuous monitoring for fractures or joint problems.
Psychological and social impact: chronic fatigue and mobility issues may limit normal activities and peer interaction.

Diagnosis of Bruck Syndrome in Children

Clinical examination

Observe signs of bone fragility and frequent fractures.
Assess joints for stiffness or deformities.
Measure height and weight, comparing them to standard growth charts.

Imaging and medical tests

Bone X-rays to detect old and new fractures and bone deformities.
Bone density scan (DEXA) to assess bone fragility.

Laboratory tests

Blood tests to rule out other blood or metabolic problems affecting bone strength.

Genetic testing

Identify the specific mutation responsible for Bruck Syndrome (e.g., FKBP10 or PLOD2).
Confirms diagnosis and determines the type of syndrome.

Additional tests as needed

Dental and jaw evaluation if problems are present.
Monitor growth and muscles to plan appropriate physical therapy.

Treatment of Bruck Syndrome in Children with Medications

Bone-strengthening medications

Calcium and Vitamin D to support bone density.
Bisphosphonates to reduce the risk of repeated fractures.

Pain relief medications

Painkillers as needed after fractures or surgeries.
Sometimes NSAIDs to reduce pain and joint swelling.

Nutritional supplements

Essential vitamins and minerals to support bone and muscle growth.
Proteins and nutrients to compensate for reduced mobility or dietary deficiencies.

Continuous medical follow-up

Regular evaluation of bone and kidney function before using certain medications.
Adjust dosages according to the child’s age, weight, and severity of bone fragility.

Encouraging Daily Activity and Exercises

Follow the physical therapy exercises prescribed by a specialist.
Encourage the child to engage in age-appropriate active play without putting stress on the bones.
Use interactive games to strengthen balance and muscles.

Preventing Injuries

Supervise the child during play to avoid falls or impacts.
Use supportive and well-fitting shoes.
In some cases, braces or walking aids may be used to reduce risks.

Regular Medical Check-ups

Visit an orthopedic doctor or physical therapist regularly.
Conduct periodic tests to evaluate bone density and the child’s growth.
Monitor height and weight to ensure normal development.

Psychological and Social Support

Boost the child’s self-confidence and encourage participation in school and social activities.
Talk to the child in a simple way about their condition to reduce anxiety and fear.
Connect with parent support groups to share experiences and tips.

Ensuring Adequate Sleep and Rest

Make sure the child gets sufficient and comfortable sleep to support bone and muscle growth.
Organize a balanced daily schedule including play, exercises, and study time.

Monitoring Pain and Symptoms

Record any new fractures or pain and report them to the doctor immediately.
Use pain relievers as directed by the doctor to alleviate discomfort when needed.

Prevention of Bruck Syndrome in Children

Genetic Testing Before Pregnancy

Since the syndrome is often hereditary, it is recommended to perform genetic testing if there is a family history.
Consult a genetic specialist to assess the risk for children.

Medical Consultation Before Pregnancy

Monitor pregnancy with a specialized doctor to reduce any complications that may affect fetal bone development.
In some cases, early prenatal tests can detect genetic abnormalities.

Proper Nutrition During Pregnancy

Eat foods rich in calcium, vitamin D, and folic acid to support fetal bone growth.
Avoid smoking, alcohol, and unauthorized medications during pregnancy.

Early Postnatal Screening

Track the child’s growth and conduct regular bone and joint check-ups.
Early diagnosis allows starting physical therapy or surgery if needed to reduce future complications.

Injury Prevention

Protect the child from falls or impacts that could harm fragile bones.
Use supportive equipment such as proper shoes, braces, or walking aids when necessary.