Living with Spondyloperipheral dysplasia
A genetic bone growth condition with a short torso, short limbs and fingers, and clubfoot.
Understanding Spondyloperipheral dysplasia
People typically have a short torso, short arms and legs, and short fingers and toes (brachydactyly). The spine bones are flattened, and feet may turn inward and up (clubfoot). Some people also have nearsightedness or hearing loss. Signs vary from person to person and may begin in the newborn or infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature with short limbs
- Short fingers and toes
- Flattened spine bones (platyspondyly)
- Nearsightedness (myopia)
- Hearing loss
- Cleft palate
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 COL2A1 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 COL2A1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: spondyloperipheral dysplasia with short ulna; spondyloperipheral dysplasia-short ulna syndrome
Patient organizations
- Little People of AmericaSpondyloperipheral dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondyloperipheral dysplasia.
Explore research for Spondyloperipheral dysplasia
Explore actively recruiting Spondyloperipheral dysplasia studies with HealthSpark.
Find actively recruiting studies for Spondyloperipheral 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
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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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