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Legius syndrome

Synonyms
Neurofibromatosis type 1 like syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Legius Syndrome
Legius syndrome is characterized by multiple café au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1 (NF1). Additional clinical manifestations reported commonly include intertriginous freckling, lipomas, macrocephaly, and learning disabilities / attention-deficit/hyperactivity disorder (ADHD) / developmental delays. Current knowledge of the natural history of Legius syndrome is based on the clinical manifestations of fewer than 300 individuals with a molecularly confirmed diagnosis; better delineation of the clinical manifestations and natural history of Legius syndrome will likely occur as more affected individuals are identified.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Eric Legius
David Stevenson
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Available tests

95 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (95 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: LGSS, NFLS, PPP1R147, hSpred1, spred-1, SPRED1
    Summary: sprouty related EVH1 domain containing 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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