Living with Brachyrachia (short spine dysplasia)
A fairly severe form of brachyolmia with a short trunk, a curved spine, and joint wear in adulthood.
Understanding Brachyrachia (short spine dysplasia)
It causes short stature with a short trunk, flattened spine bones, and a spine that curves forward and sideways (kyphoscoliosis). Degenerative joint disease (osteoarthropathy) of the spine, large joints, and finger joints appears in adulthood. It is noted in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Short trunk
- Flattened spine bones (platyspondyly)
- Spine curve (kyphoscoliosis)
- Joint wear in adulthood
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
- 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 autosomal dominant, so one changed copy of the gene is enough.
Also known as: autosomal dominant brachyolmia; bcym3; brachyolmia type 3; brachyolmia, autosomal dominant
Patient organizations
- Little People of AmericaBrachyrachia (short spine dysplasia) · United States
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Perspectives from people navigating life with Brachyrachia (short spine dysplasia).
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