Living with Axial spondylometaphyseal dysplasia
A genetic bone growth condition with short height and early, worsening vision loss.
Understanding Axial spondylometaphyseal dysplasia
It leads to short height. For reasons not well understood, it also causes early vision loss that gets worse over time. Onset is listed as infancy and childhood. It is thought to be autosomal recessive.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short height and slow growth
- Flattened spine bones (platyspondyly)
- Deformed rib cage
- Hip bone differences (coxa vara)
- Breakdown of light-sensing cells in the eye (retinal dystrophy)
- Reduced clarity of vision
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in CFAP410 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); Eye disease specialists (ophthalmologists); 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
GARD's summary says the cause is unknown, but GARD lists the CFAP410 gene. It is thought to be autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: axial smd
Patient organizations
- Little People of AmericaAxial spondylometaphyseal dysplasia · United States
- Kniest SED GroupAxial spondylometaphyseal dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Axial spondylometaphyseal dysplasia.
Explore research for Axial spondylometaphyseal dysplasia
Explore actively recruiting Axial spondylometaphyseal dysplasia studies with HealthSpark.
Find actively recruiting studies for Axial spondylometaphyseal dysplasia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Axial spondylometaphyseal dysplasia studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Axial spondylometaphyseal dysplasia
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Axial spondylometaphyseal dysplasia experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.