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Legius syndrome MeSH Supplementary Concept Data 2025


MeSH Supplementary
Legius syndrome
Unique ID
C548032
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C548032
Entry Term(s)
Neurofibromatosis Type 1-Like Syndrome
Registry Numbers
0
Heading Mapped to
*Cafe-au-Lait Spots
Frequency
38
Note
A hereditary autosomal dominant disorder that shows some similarities to NEUROFIBROMATOSIS 1 (OMIM: 162200) but is less severe. Affected individuals usually have multiple cafe-au-lait spots, sometimes associated with skin fold freckling, variable dysmorphic features such as HYPERTELORISM or MACROCEPHALY; LIPOMAS, and mild LEARNING DISORDERS or ATTENTION DEFICIT DISORDER. It is not associated with neurofibromas, optic gliomas, Lisch nodules, or tumor predisposition. Mutations in the SPRED1 gene have been identified. OMIM: 611431
Date of Entry
2010/08/25
Revision Date
2015/08/18
Legius syndrome Preferred
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