TRPV4-related Skeletal Dysplasia

What is TRPV4-related skeletal dysplasia?

TRPV4-related skeletal dysplasia refers to a group of genetic conditions that affect bone and cartilage growth. These conditions can cause a wide range of symptoms and severity. Some children may have only a few mild symptoms, like shortened bones in the fingers and toes (brachydactyly). Others may have more serious symptoms, like breathing problems, short limbs and spine issues.

TRPV4-related skeletal dysplasia does not affect intellectual development. Most children grow up to live active, fulfilling lives.

TRPV4-related skeletal dysplasia conditions include (from mildest to most severe):

• Familial digital arthropathy with brachydactyly
• Brachyolmia
• Spondylometaphyseal dysplasia (Kozlowski type)
• Spondyloepimetaphyseal dysplasia (Maroteaux type)
• Metatropic dysplasia

What causes TRPV4-related skeletal dysplasia?

A genetic change (mutation) in the TRPV4 gene causes TRPV4-related skeletal dysplasia. This gene affects how calcium moves into cells, which is important for developing healthy cartilage, bones and muscles.

In most cases, the gene change that causes TRPV4-related skeletal dysplasia happens randomly before the child is conceived. However, some children inherit the TRPV4 gene change from one of their parents. A parent with a TRPV4-related skeletal dysplasia has a 50% chance of passing it on to their child (called autosomal dominant inheritance).

What are the signs and symptoms of TRPV4-related skeletal dysplasia?

Babies with TRPV4-related skeletal dysplasia usually have shortened limbs, fingers and toes at birth. Other common signs and symptoms may appear as the child grows and can range from mild to serious.

Children with TRPV4-related skeletal dysplasia may have:

• A curve in the spine, either left-to-right (scoliosis), front-to-back (kyphosis) or both (kyphoscoliosis)
• Enlarged joints
• Joint stiffness (contractures) that may get tighter as the child grows
• Knock-knees or bowlegs
• Short stature (height)
• Short torso
• Unstable neck bones (cervical spine)

How do we diagnose TRPV4-related skeletal dysplasia?

In most cases, our doctors will diagnose TRPV4-related skeletal dysplasia based on your child’s:

• Genetic testing results
• Medical history
• Signs and symptoms observed during a physical exam
• X-rays of the spine and long bones in the arms and legs

Sometimes, your doctor may see signs like a narrow chest and dumbbell shape of long bones during a prenatal (before birth) ultrasound.

How do we treat TRPV4-related skeletal dysplasia?

We know that every child is different, so our comprehensive care team will create an individual treatment plan based on your child’s specific needs. Treatment for TRPV4-related skeletal dysplasia may include:

• Bone growth monitoring, especially in the spine and legs
• Over-the-counter medicines to reduce pain and keep your child as comfortable as possible
• Physical therapy to help reduce joint stiffness
• Regular hearing tests
• Surgery to correct bone growth or unstable neck bones

Why choose us to treat TRPV4-related skeletal dysplasia?

Our comprehensive Skeletal Health and Dysplasia Program meets your child’s unique needs to help them thrive. We set the standard for skeletal dysplasia care, offering all the care your child needs in a single location:

• Advanced testing and innovative therapies to ensure the best possible outcome
• Rare Disease Center of Excellence specialists who have a deep understanding of TRPV4-related skeletal dysplasia and the experience to treat it
• Tailored care to meet your child’s changing needs as they grow

A team approach is critical for treating rare and complex conditions like TRPV4-related skeletal dysplasia. Our experienced, child-focused experts — like orthopedics, rehabilitation and breathing specialists — work together to give your child the comprehensive, compassionate care they need to live an active, productive life.

What resources are available for TRPV4-related skeletal dysplasia?

National organizations that offer information, support and resources for people with TRPV4-related skeletal dysplasia include:

• National Organization for Rare Disorders
• Little People of America

Could I have another child with TRPV4-related skeletal dysplasia?

If you or your partner has the TRPV4 gene change, you have a 50% chance of passing the condition on to your child. If neither of you has the gene change, you have a very small chance (2% to 3%) of having another child with the condition. Our genetic counselors can help you decide whether genetic testing is right for you and your family.

When should I contact my child’s care team?

Your care team is available to help you whenever you have questions. Be sure to call us if your child:

• Complains of pain, tingling, numbness or weakness in their arms or legs
• Has arm, leg or joint pain that gets worse or lasts longer than usual
• Is struggling in school
• Loses motor skills, such as they stop crawling or lose bladder or bowel control

How can I best help my child with TRPV4-related skeletal dysplasia?

There are many ways you can help your child with TRPV4-related skeletal dysplasia, including:

• Connect with other families. Support groups, like those offered by Little People of America, can help both kids and parents.
• Get regular care to treat issues early.
• Give them simple answers to common questions they might hear. Give examples like, “My bones just grow differently from yours.”
• Support their independence by providing adaptive aids like stepstools or faucet extenders.
• Talk about kindness and teach your child to speak up if they are teased or bullied.
• Talk about TRPV4-related skeletal dysplasia as a difference, not a problem.
• Work with teachers to set up an IEP or 504 plan to meet your child’s school needs.