Type 2 Collagen Disorders

What are the signs and symptoms of type 2 collagen conditions?

Children with type 2 collagen conditions can have symptoms affecting many different parts of the body. Your child may have some or all of the following:

Symptoms affecting bones and joints

Type 2 collagen disorders prevent healthy cartilage development, causing bone and joint issues such as:

• Joint pain or stiffness (contractures), especially in the hips or knees
• Knock knees or bowlegs
• Rounded, barrel chest (pectus carinatum)
• Shorter trunk relative to the arms and legs
• Short stature, ranging from mild differences to dwarfism
• Spinal issues including curvature (scoliosis or kyphosis) or abnormal bone structure in the spine
• Unstable neck bones, which can cause spinal cord compression

Symptoms affecting vision

Collagen plays a key role in developing the lenses in the eye. Without healthy amounts of type 2 collagen, eye issues can develop, such as:

• Cataracts (clouding of the lens)
• Nearsightedness, sometimes severe
• Retinal detachment (when the retina, which senses light, pulls away from the back of the eye)

Symptoms affecting breathing

When cartilage doesn’t develop properly, children can develop problems in the chest or windpipe that affect their ability to breathe normally, including:

• A small chest with underdeveloped lungs
• A weak or floppy windpipe (tracheomalacia)

Other symptoms

Cartilage is important for healthy development of the face, mouth and ears. When a type 2 collagen condition disrupts a child’s cartilage growth in these areas, they can have:

• Cleft palate, which can delay speech and cause ear infections
• Hearing loss, either in the outer ear (conductive) or inner ear (sensorineural)
• Sleep apnea (when breathing slows or stops for short periods during sleep)

How do we diagnose type 2 collagen disorders?

In most cases, our doctors will diagnose your child’s specific type 2 collagen disorder based on:

• Medical history
• Signs and symptoms during a physical exam
• X-rays of their long bones and spine
• Genetic testing to confirm the diagnosis

Sometimes, your doctor may see signs (like a small chest or shortened long bones) during a prenatal ultrasound. In this case, we may recommend amniocentesis to collect fluid around the baby for genetic testing.

How do we treat type 2 collagen disorders?

We know that every child with a type 2 collagen condition is different, with unique symptoms, challenges and needs. Your care team will create an individual treatment plan just for your child.

Regular screenings may include:

• Eye exams with an ophthalmologist to check for cataracts, nearsightedness and signs of retinal detachment
• Hearing tests to check for hearing loss
• Monitoring bone growth, especially the legs and spine, to check for bone changes

Treatment may include:

• Eyeglasses
• Hearing aids
• Occupational therapy to help with daily activities and recommend helpful equipment, such as step stools or special seating
• Speech-language therapy to improve communication affected by hearing, vision or cleft palate concerns
• Over-the-counter medicines to reduce pain and keep your child as comfortable as possible
• Physical therapy to improve strength or reduce joint stiffness and pain

We may also recommend surgery to:

• Insert ear tubes to help prevent repeated ear infections
• Prevent or treat retinal detachment (laser treatment)
• Relieve hip or knee pain
• Relieve spinal cord pressure
• Remove cataracts
• Remove the tonsils and adenoids to treat sleep apnea
• Repair a cleft palate
• Straighten the legs or spine

Why choose us for treatment of type 2 collagen disorders?

A specialized team approach is essential for treating rare and complex conditions, like type 2 collagen disorders. Our comprehensive Skeletal Dysplasia Program provides all the care your child needs, and our expertise is unmatched in the Rocky Mountain region. If a type 2 collagen disorder affects multiple parts of your child’s body, we have all the specialists they’ll need — in one place.

As a Rare Disease Center of Excellence, our specialists have the highest level of expertise in treating type 2 collagen conditions. Caring for these conditions might be rare for some pediatric centers, but it’s common for our skeletal dysplasia experts. And that experience pays off in the best outcomes for your child.

All of our child-focused experts — like orthopedics, rehabilitation and breathing specialists — work together to give your child the individualized, compassionate care they need.

Helpful resources

• Little People of America
• National Organization for Rare Disorders (NORD): Patient and Caregiver Assistance