Living with Mirror polydactyly-vertebral segmentation-limbs defects syndrome
A rare condition with mirror-image extra fingers or toes, differences in the spine bones, and severe limb differences.
Understanding Mirror polydactyly-vertebral segmentation-limbs defects syndrome
GARD describes mirror polydactyly (extra fingers or toes in a mirror pattern), extra divisions in the spine bones, and severe limb differences present at birth. Blockage of the first part of the small bowel (duodenal atresia) and an absent thymus gland were also reported. Signs can be seen during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extra toes (foot polydactyly)
- Severely shortened limbs (phocomelia)
- Split hand
- Differences in how the spine bones form
- Blocked or narrowed first part of the small bowel
- 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 the cause is unknown. It has been suggested that the syndrome is caused by a problem with how a developmental control gene works.
Also known as: mirror polydactyly, vertebral segmentation and limb defect 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 Mirror polydactyly-vertebral segmentation-limbs defects syndrome.
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