Living with Metatropic dysplasia
A skeletal condition with short stature, a narrow chest, and a spine curve that changes and worsens over time.
Understanding Metatropic dysplasia
Babies are born with a narrow chest and short arms and legs with dumbbell-shaped long bones. From early childhood, the spine curves side to side and front to back (kyphoscoliosis), which worsens over time and can be hard to treat. Joints can be stiff, and joint pain and arthritis can begin early in life. Some babies are born with a small cartilage tail at the tailbone that usually shrinks. Severity ranges from relatively mild to severe.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe short stature
- Narrow chest
- Curved spine (scoliosis and kyphosis)
- Joint stiffness
- Flattened spine bones
- Long ribcage
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in TRPV4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Little People of America and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the TRPV4 gene cause this condition. It is inherited in an autosomal dominant way, so a change in one copy of the gene can be enough.
Also known as: metatropic dwarf; metatropic dwarfism; metatropic dwarfism syndrome; metatropic dysplasia group; metatropic dysplasia i; metatropic dysplasia, nonlethal dominant
Patient organizations
- Little People of AmericaMetatropic dysplasia · United States
- The MAGIC FoundationMetatropic dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Metatropic dysplasia.
Explore research for Metatropic dysplasia
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- Recruiting studies from ClinicalTrials.gov
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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