Living with Legius syndrome
An inherited condition that mainly changes skin color, with flat brown patches, and can affect learning and attention.
Understanding Legius syndrome
Almost everyone with Legius syndrome has multiple café-au-lait spots, flat patches darker than the skin around them. Some have freckles in the armpits and groin, a larger head, or unusual facial features. Most have normal intelligence, but some have learning disabilities or ADD/ADHD. It can look like neurofibromatosis type 1 in early childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Several café-au-lait spots (flat, darker skin patches)
- Freckles in the armpits
- Freckles in the groin
- Specific learning disability
- Differences in behavior
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 brain and nervous system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in SPRED1 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
RASopathies Network may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: RASopathies Network
- 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 RASopathies Network 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 SPRED1 gene. A person can have it after inheriting one changed copy of the gene (autosomal dominant).
Also known as: neurofibromatosis 1-like syndrome; neurofibromatosis type 1-like syndrome; nf1-like syndrome; nfls - neurofibromatosis type 1-like syndrome
Patient organizations
- RASopathies NetworkLegius syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Legius syndrome.
Explore research for Legius syndrome
Explore actively recruiting Legius syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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