Living with Ehlers-Danlos syndrome, dermatosparaxis type
An inherited connective tissue condition with very soft, fragile, saggy skin, hernias, and loose joints.
Understanding Ehlers-Danlos syndrome, dermatosparaxis type
Common symptoms include soft, doughy, extremely fragile skin, saggy, redundant skin especially on the face, hernias, and joint hypermobility that ranges from mild to severe. 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 fragile, doughy skin
- Saggy skin, especially on the face
- Hernias
- Very flexible joints
- Hip dislocation or hip dysplasia
- Acid reflux
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 ADAMTS2 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
Ehlers-Danlos Society and 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: Ehlers-Danlos Society, 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 Ehlers-Danlos Society 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 ADAMTS2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: deds; dermatosparaxis; dermatosparaxis eds; dermatosparaxis eds (ehlers-danlos syndrome); dermatosparaxis ehlers-danlos syndrome; eds viic
Patient organizations
- Ehlers-Danlos SocietyEhlers-Danlos syndrome, dermatosparaxis type · United States
- Bobby Jones Chiari & Syringomyelia FoundationEhlers-Danlos syndrome, dermatosparaxis type · United States
- Coalition for Heritable Disorders of Connective TissueEhlers-Danlos syndrome, dermatosparaxis type · United States
- EDS AwarenessEhlers-Danlos syndrome, dermatosparaxis type · United States
- The Zebra NetworkEhlers-Danlos syndrome, dermatosparaxis type · 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, dermatosparaxis type.
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