Living with Noonan syndrome with multiple lentigines
A genetic condition, formerly called LEOPARD syndrome, with dark skin spots, heart differences, widely spaced eyes, and short stature.
Understanding Noonan syndrome with multiple lentigines
It is very similar to Noonan syndrome and can be hard to tell apart in early childhood, but features differ later in life. Brown skin spots (lentigines) usually appear in mid-childhood and are not caused by sun. Café-au-lait spots often appear in the first year. Among people with heart defects, about 80 percent have thickened heart muscle. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Freckle-like brown skin spots (lentigines)
- Heart differences, including thickened heart muscle
- Abnormal heart rhythm (arrhythmia)
- Sunken chest (pectus excavatum)
- Slower growth and short stature
- Drooping upper eyelids (ptosis)
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 bone and joint specialists, cancer specialists, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
RASopathies Network and Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Cancer specialists (oncologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: RASopathies Network, Children's Cardiomyopathy 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 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
GARD says changes in genes cause this condition. It is inherited in an autosomal dominant way, meaning one changed copy of the gene can be enough.
Also known as: capute-rimoin-konigsmark-esterly-richardson syndrome; cardiomyopathic lentiginosis; familial multiple lentigines syndrome; generalised lentiginosis; generalized lentiginosis; gorlin syndrome ii
Patient organizations
- RASopathies NetworkNoonan syndrome with multiple lentigines · United States
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Noonan syndrome with multiple lentigines.
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