Living with Oculoauriculovertebral spectrum with radial defects
A rare condition affecting the face, ears, spine, and thumbs or forearms, with a wide range of features.
Understanding Oculoauriculovertebral spectrum with radial defects
It involves differences in the face on one or both sides, plus radial defects such as extra, small, or missing thumbs. Features can include low weight, short stature, spine differences, hearing loss, uneven face, ear malformations, and clefts. Heart, lung, kidney, and brain involvement has also been reported. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small or missing thumb
- Small or malformed ears (microtia), ear pits and skin tags
- Facial asymmetry
- Hearing loss from inner ear differences
- Cleft of the mouth (orofacial cleft)
- Short stature
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.
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
GARD says changes in genes cause this condition. It is inherited in an autosomal dominant way, meaning one changed copy of the gene can be enough.
Also known as: goldenhar syndrome with ipsilateral radial defect; hemifacial microsomia with radial defect syndrome; hemifacial microsomia with radial defects; hemifacial microsomia-radial defects syndrome; moeschler clarren syndrome; moeschler-clarren syndrome
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 Oculoauriculovertebral spectrum with radial defects.
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