Living with Ehlers-Danlos syndrome, classic-like, 2
A rare inherited condition with loose joints, stretchy skin with poor healing, easy bruising, and sometimes weak bones.
Understanding Ehlers-Danlos syndrome, classic-like, 2
People have joints that dislocate often, loose and stretchy skin with unusual scarring, easy bruising, and lower bone density. Other features can include low muscle tone, late motor development, foot differences, hernias, dental differences, scoliosis, and heart valve or aortic root changes. Signs show up in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very flexible joints that dislocate
- Stretchy, loose skin
- Easy bruising
- Thin bones (osteopenia)
- Hernias
- Mitral valve prolapse
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 autoimmune and inflammatory disease specialists, bone and joint specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in AEBP1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Bobby Jones Chiari & Syringomyelia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Bobby Jones Chiari & Syringomyelia Foundation
- 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 Bobby Jones Chiari & Syringomyelia Foundation 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 the AEBP1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: aebp1-related eds; aebp1-related eds (ehlers-danlos syndrome); aebp1-related ehlers-danlos syndrome; classical-like eds type 2; classical-like ehlers-danlos syndrome type 2; cleds type 2
Patient organizations
- Bobby Jones Chiari & Syringomyelia FoundationEhlers-Danlos syndrome, classic-like, 2 · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ehlers-Danlos syndrome, classic-like, 2.
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