Living with Cutis laxa, autosomal recessive, type 1B
A rare genetic connective tissue condition with loose skin, lung and heart problems, and fragile blood vessels.
Understanding Cutis laxa, autosomal recessive, type 1B
Babies may have fractures during birth, long thin fingers (arachnodactyly), and flexible joints. Other symptoms include emphysema and trouble getting oxygen in and carbon dioxide out because of heart and lung problems. The condition may also cause fragile blood vessels. These symptoms are all related to changes in how elastic fiber is formed.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loose skin
- Emphysema
- Twisted or bulging arteries (aneurysms)
- High blood pressure in the lungs
- Hernias
- Very flexible joints
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 the EFEMP2 gene. It is autosomal recessive, meaning two changed copies of the gene, one from each parent, are needed to cause it.
Also known as: arcl1b; cutis laxa, autosomal recessive, type ib
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cutis laxa, autosomal recessive, type 1B.
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