Living with Autosomal recessive omodysplasia
An inherited bone condition with short arms and legs and facial differences, seen from birth.
Understanding Autosomal recessive omodysplasia
It is seen in the newborn period or infancy. Arms and legs are shorter than usual, especially the upper and middle parts of the limbs. Elbows can dislocate. Facial features can include a prominent forehead and a small lower jaw.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short arms and legs
- Short height
- Elbow dislocation
- Forehead that sticks out (frontal bossing)
- Small lower jaw (micrognathia)
- Undescended testes (cryptorchidism)
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 GPC6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
It is caused by changes in the GPC6 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: micromelic dysplasia-dislocation of radius syndrome; micromelic dysplasia, congenital, with dislocation of radius; micromelic dysplasia, dislocation of radius syndrome; omod1; omodysplasia 1; omodysplasia type 1
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive omodysplasia.
Explore research for Autosomal recessive omodysplasia
Explore actively recruiting Autosomal recessive omodysplasia studies with HealthSpark.
Find actively recruiting studies for Autosomal recessive 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
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Autosomal recessive omodysplasia 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 Autosomal recessive omodysplasia
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 Autosomal recessive omodysplasia 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.