Living with Arthrogryposis-ectodermal dysplasia-other anomalies syndrome
A rare genetic syndrome present from birth with stiff joints, missing teeth, nail and skin differences, and slow growth.
Understanding Arthrogryposis-ectodermal dysplasia-other anomalies syndrome
People have bent fingers and joint contractures (joints fixed in a bent position) with muscle wasting. Ectodermal features include fewer teeth, enamel differences, broken nails, and skin that sweats little and bruises and scars easily. Growth is slow, the head is small, and the spine curves. GARD notes there have been no further descriptions in the medical literature since 1992.
Signs & symptoms
GARD doesn't list specific symptoms for this condition, but its summary describes these features:
- Bent fingers and stiff joints (contractures)
- Muscle wasting
- Fewer teeth than usual and enamel differences
- Nails that break lengthwise
- Skin that sweats little and bruises or scars easily
- Slow growth and a small head
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, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- 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 National Foundation for Ectodermal Dysplasias and other patient organizations
- 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 (also called variants) cause this syndrome but doesn't list a specific gene or inheritance pattern.
Also known as: arthrogryposis and ectodermal dysplasia syndrome; arthrogryposis-ectodermal dysplasia syndrome; arthrogryposis, ectodermal dysplasia, other anomalies syndrome; stoll alembik finck syndrome; stoll-alembik-finck syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasArthrogryposis-ectodermal dysplasia-other anomalies syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Arthrogryposis-ectodermal dysplasia-other anomalies syndrome.
Explore research for Arthrogryposis-ectodermal dysplasia-other anomalies syndrome
Explore actively recruiting Arthrogryposis-ectodermal dysplasia-other anomalies syndrome studies with HealthSpark.
Find actively recruiting studies for Arthrogryposis-ectodermal dysplasia-other anomalies syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Arthrogryposis-ectodermal dysplasia-other anomalies syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Arthrogryposis-ectodermal dysplasia-other anomalies syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Arthrogryposis-ectodermal dysplasia-other anomalies syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.