Living with Omodysplasia
A rare bone condition causing short limbs and distinct facial features, in a more severe and a milder form.
Understanding Omodysplasia
There are two types. The recessive (generalized) form causes severe shortening of both upper and lower limbs. The dominant form causes shortening limited to the upper limbs, with normal height. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, features may include:
- Shortened arms and legs
- Distinct facial features
- Short stature (in the recessive form)
- Dislocated radius, a forearm bone (in the recessive form)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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
GARD says changes in genes cause this condition. It can be inherited in an autosomal recessive way (generalized form) or an autosomal dominant way (upper limbs only).
Patient organizations
- Little People of AmericaOmodysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Omodysplasia.
Explore research for Omodysplasia
Explore actively recruiting Omodysplasia studies with HealthSpark.
Find actively recruiting studies for Omodysplasia 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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