Neurofibromatosis-Noonan syndrome: A rare disorder where the patients has symptoms of neurofibromatosis (nerve tumors) and Noonan syndrome (short stature, bleeding problems, heart defect, unusual facial features, skeletal anomalies, webbed neck). More detailed information about the symptoms, causes, and treatments of Neurofibromatosis-Noonan syndrome is available below.
See full list of 42 symptoms of Neurofibromatosis-Noonan syndrome
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Read more about Misdiagnosis and Neurofibromatosis-Noonan syndrome
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Types of Neurofibromatosis-Noonan syndrome
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A syndrome characterized by the presence of PULMONARY STENOSIS, CAFE-AU-LAIT SPOTS, MENTAL RETARDATION and short stature caused by mutations in the NF1 gene (GENES, NEUROFIBROMATOSIS 1). - (Source - Diseases Database)
Neurofibromatosis-Noonan syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Neurofibromatosis-Noonan syndrome, or a subtype of Neurofibromatosis-Noonan syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Neurofibromatosis-Noonan syndrome as a "rare disease".
Source - Orphanet
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