Living with Autosomal dominant omodysplasia
A genetic condition that affects bone growth in the arms and changes facial features.
Understanding Autosomal dominant omodysplasia
GARD lists many features, including short upper arm bones, elbow dislocation, and certain facial differences. Some boys have differences in the genitals. Signs are usually seen in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short upper arm bone (short humerus)
- Elbow dislocation
- Wide-set eyes (hypertelorism)
- Forehead that sticks out (frontal bossing)
- Flat nasal bridge and short nose
- 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 FZD2 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 FZD2 gene. It is autosomal dominant, so a change in one copy of the gene can cause it.
Also known as: omodysplasia 2; omodysplasia, autosomal dominant
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 dominant omodysplasia.
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