Living with Cutis laxa, X-linked
A genetic condition (occipital horn syndrome) that affects connective tissue, bones, and nerves, with loose skin and joints.
Understanding Cutis laxa, X-linked
Features can include wedge-shaped calcium deposits at the base of the skull (occipital horns), loose skin and joints, and problems with nerves that control automatic body functions (dysautonomia). Other symptoms may include pouches in the bladder wall, coarse hair, low muscle tone, and mild intellectual disability. It is a milder form of Menkes disease, which affects copper levels. It can be diagnosed from symptoms, genetic testing, and blood tests.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loose skin and loose joints
- Wedge-shaped bone growths at the skull base
- Easy bruising
- Acid reflux and slow stomach emptying
- Global developmental delay
- Atypical scarring
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 ATP7A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
- 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 Coalition for Heritable Disorders of Connective Tissue 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 the ATP7A gene. It is X-linked recessive, meaning the gene is on the X chromosome.
Also known as: eds ix; ehlers-danlos syndrome type 9; ehlers-danlos syndrome type 9 x-linked; ehlers-danlos syndrome type ix; ehlers-danlos syndrome, mental retardation type; ehlers-danlos syndrome, occipital horn type
Patient organizations
- Coalition for Heritable Disorders of Connective TissueCutis laxa, X-linked · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cutis laxa, X-linked.
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