Connective tissue dysplasia factsheet
Introduction
Connective tissue dysplasia is a name used to cover a wide range of conditions that cause weakness in connective tissue, including:
- bone
- ligaments 鈥� bands of tough, flexible tissue that connect bones at a joint
- tendons 鈥� tissue that connects muscle to the bone
- skin.
Connective tissue dysplasia conditions can include:
- Ehlers-Danlos syndrome 鈥� a group of disorders that cause hyper-elastic skin, joint hypermobility, pitted scarring, and fragile blood vessels.
- Marfan syndrome 鈥� a disorder that changes the body鈥檚 ability to develop healthy connective tissue
- skeletal dysplasia 鈥� a group of disorders that cause bones, joints, and cartilage to develop abnormally
- brittle bone disorders 鈥� disorders that cause the bones to fracture or break easily
- mucopolysaccharidoses or MPS disorders 鈥� disorders where the body is missing or does not have enough of certain enzymes that break down sugars in cells.
Connective tissue dysplasias are usually genetic conditions, which means they can be passed down through families.
聽Signs and symptoms
Children with connective tissue dysplasia disorders may have:
- hypermobility - too much joint movement
- joint contractures - not enough joint movement
- fragile bones, skin, blood vessels or ligaments
- degenerative joint disease 鈥� where joint tissue breaks down over time
- a shorter height than average for their age
- issues with the spine.
Diagnosis
See your local doctor if your child is showing signs and symptoms of a connective tissue dysplasia disorder, and you are concerned about their development.
The doctor will take a medical and family history and will do a physical examination.
Your child may be referred to a specialist doctor for further tests to diagnose, treat and manage the condition.
Treatment
Treatment for connective tissue dysplasia disorders will depend on the type of disorder and how severe the symptoms are.
Generally, treatment will involve managing the symptoms and preventing any damage to connective tissue and organs.
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Ehlers-Danlos syndrome
Children with Ehlers-Danlos syndromes will commonly have:
- hypermobility in hands and feet
- loose joints, including the hips, knees, and elbows
- skin that easily stretches or bruises
- muscle and joint pain
- pain and weakness that gets worse in cold environments
- skin that doesn鈥檛 heal normally, or scars abnormally.
The doctor will be able to tell you the specific type of Ehlers-Danlos syndrome your child has after tests.
Treatment can include:
- medication to manage joint pain
- bracing to stabilise joints
- physiotherapy and occupational therapy to strengthen muscles and modify movement.
Marfans syndrome
Children with Marfan syndrome will commonly have:
- problems with their vision
- a chest that sticks out or is sunken in
- a curved spine
- loose joints
- back, leg, and abdominal pain
- crowded teeth
- a taller, more slender body
- a narrower face.
Children with Marfan syndrome will also commonly have issues with their:
- eyes
- heart
- blood vessels.
The large vessel that carries blood from the heart, called the aorta, can become weak and may need to be fixed with surgery as your child grows.
Treatment can include:
- medication to manage blood pressure and lower stress on the heart
- physiotherapy and occupational therapy to strengthen muscles and modify movement
- surgery to repair blood vessels and joints.
Skeletal dysplasias
Skeletal dysplasia disorders are a group of about 400 different conditions that affect bones and cartilage.
Cartilage is the strong and flexible tissue that protects the joints and bones.
Children who have skeletal dysplasia disorders may:
- be shorter in height than other children of their age
- have different body proportions, such as shorter limbs or a shorter upper body
- have issues with their internal organs
- have issues with vision
- have issues with hearing.
Brittle bone聽disease
Children with brittle bone disease have fragile bones that fracture or break easily.
There are many different types of Brittle Bone Disorders. The most common is Osteogenesis Imperfecta (OI).
Some children with OI may have a blue colour in the whites of their eyes, also known as the sclerae. The blue colour can become more noticeable in more severe cases.
Children with more severe OI can also have:
- a shorter height than normal for their age
- deformity of their limbs or spine
- hearing loss
- breathing problems
- a triangular face shape
- unusually fragile teeth.
Mucopolysaccharidoses (MPS) disorders
Mucopolysaccharidoses (MPS) disorders are where the body is missing or does not have enough of certain enzymes that break down sugars in cells. These sugars build up in the body and can cause problems with the growth and function of the skeleton and connective tissues.
Children with MPS disorders may have issues like:
- intellectual disability
- developmental delay
- repeated ear and respiratory infections
- stiff joints
- heart disease
- sleeping problems
- a curved spine
- shorter height than normal for their age.
Issues caused by MPS disorders will get worse over time. Children with MPS disorders will generally have a shorter lifespan.
Treatment focuses on:
- improving symptoms
- improving quality of life.
Resources and more information
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The Marfan Foundation
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Osteogenesis Imperfecta Society of Australia
