Living with Wrinkly skin syndrome
A genetic condition from infancy with loose, wrinkly skin and a late-closing soft spot, with other features that vary.
Understanding Wrinkly skin syndrome
Other signs vary widely. GARD says it appears to be the mild version of autosomal recessive cutis laxa syndrome type 2. Features can include low muscle tone in infancy, hip dislocation from birth, and speech delay.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wrinkled skin, especially on the hands and feet
- Late closing of the soft spot
- Low muscle tone in infancy (floppy infant)
- Delayed speech and language
- Hip dislocation from birth
- Dental cavities and late tooth eruption
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, brain and nervous system specialists and digestive system specialists.
- 3Consider genetic testing
Changes in ATP6V0A2 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
Epilepsy 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); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists)
- Expert care
- Expert lists: Epilepsy 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 Epilepsy 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
Wrinkly skin syndrome can be caused by changes in the ATP6V0A2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: type of gerodermia osteodysplastica; wrinkled skin syndrome; wss; wss - wrinkly skin syndrome
Patient organizations
- Epilepsy FoundationEpilepsy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Wrinkly skin syndrome.
Explore research for Wrinkly skin syndrome
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