Living with Cutis laxa - Marfanoid syndrome
A rare genetic condition with loose skin in newborns, a tall slender build with long fingers, and lung and heart differences.
Understanding Cutis laxa - Marfanoid syndrome
Features include loose skin from birth, long slender fingers (arachnodactyly), emphysema, heart differences, and a hernia in the diaphragm. Mild joint tightness in the elbows, hips, and knees, and hip dislocation on both sides may also occur. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loose, redundant skin
- Long slender fingers (arachnodactyly)
- Emphysema
- Hernia in the diaphragm
- Hip dislocation
- Joint tightness (contractures)
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- 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
GARD says changes in genes cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it. GARD doesn't name a gene.
Also known as: cutis laxa-marfanoid syndrome; neonatal cutis laxa with marfanoid phenotype
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 - Marfanoid syndrome.
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