Living with Exostoses-anetodermia-brachydactyly type E syndrome
A very rare inherited condition with bony growths, patches of thin skin, and short fingers or toes.
Understanding Exostoses-anetodermia-brachydactyly type E syndrome
It is seen in newborns. It involves anetodermia (patches of thin, wasted skin), multiple exostoses (bony growths), and brachydactyly type E (short fingers or toes). The features vary from person to person.
Signs & symptoms
Symptoms vary from person to person. GARD lists these as the most common:
- Multiple bony growths (exostoses)
- Patches of thin skin (anetodermia)
- Short fingers or toes (brachydactyly type E)
- Flat, discolored patches of skin
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
Changes in genes cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it. GARD does not name the gene.
Also known as: exostoses with anetodermia and brachydactyly, type e
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 Exostoses-anetodermia-brachydactyly type E syndrome.
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