Living with Duane-radial ray syndrome
A genetic condition that affects eye movement and the bones of the hands and arms, often with thumb differences.
Understanding Duane-radial ray syndrome
People with this condition have Duane anomaly, an eye movement problem that limits how far the eye can move outward and sometimes inward. As the eye moves inward, the eye opening narrows and the eyeball may pull back. Hand and arm differences include thumbs that are small, missing, extra, or finger-like, and forearm bones that are partly or completely missing. Some people also have ear shape differences, hearing loss, heart or kidney differences, clubfoot, or fused spine bones. It is present from the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Duane anomaly (limited eye movement)
- Underdeveloped forearm bones (radius or ulna)
- Small base of the thumb (thenar eminence)
- Shoulder dislocation
- Abnormally small eyeball (microphthalmia)
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, digestive system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in SALL4 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); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); 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 the SALL4 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: acro-renal-ocular syndrome; acrorenocular syndrome; acrorenoocular syndrome; dr syndrome; drrs; drrs - duane-radial ray 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 Duane-radial ray syndrome.
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