Living with Neurofibromatosis-Noonan syndrome
A condition that combines features of neurofibromatosis type 1 and Noonan syndrome, with skin spots, short height, and heart differences.
Understanding Neurofibromatosis-Noonan syndrome
It combines NF1 features, such as café-au-lait spots, freckling in the armpits and groin, and multiple neurofibromas, with Noonan syndrome features, such as short height, typical facial features, heart defects, and an unusual chest shape. Because these conditions overlap, genetic testing is often needed for a correct diagnosis. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Café-au-lait spots
- Short stature
- Heart differences, such as narrowing of the pulmonic valve
- Wide-set, drooping, downslanting eyes
- Webbed neck
- Learning differences
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, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in NF1 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
Children's Tumor Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Cancer specialists (oncologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- Expert care
- Expert lists: Children's Tumor 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 Children's Tumor Foundation 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 lists changes in the NF1 gene. The condition is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: neurofibromatosis noonan syndrome; neurofibromatosis type 1 noonan syndrome; neurofibromatosis type 1-noonan syndrome; neurofibromatosis with noonan phenotype; nfns; nfns - neurofibromatosis noonan syndrome
Patient organizations
- Children's Tumor FoundationNeurofibromatosis-Noonan syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Neurofibromatosis-Noonan syndrome.
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