Living with Cutis laxa with osteodystrophy
A genetic form of cutis laxa (type II) with wrinkled skin, delayed development, and brain and bone differences.
Understanding Cutis laxa with osteodystrophy
It is present from birth. People have excess wrinkled skin, loose joints, late-closing skull soft spots, hernias, and slow growth after birth. They can also have global developmental delay, intellectual disability, seizures, and differences in the brain such as in the cerebellum.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wrinkled, loose skin
- Very flexible joints
- Late-closing skull soft spots
- Global developmental delay
- Seizures
- Slow growth after birth
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
It is caused by changes in both copies of the ATP6V0A2 gene on chromosome 12q24. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: arcl2a; arcl2a - autosomal recessive cutis laxa type 2a; autosomal recessive cutis laxa type 2a; autosomal recessive cutis laxa type iia; cutis laxa with bone dystrophy; cutis laxa with congenital disorder of glycosylation
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 Cutis laxa with osteodystrophy.
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