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MASA syndrome

Synonyms
Adducted thumb with mental retardation; Clasped thumb and mental retardation; Crash syndrome; Gareis-Mason syndrome; MASA Syndrome (Mental Retardation, Adducted Thumbs, Shuffling Gait, and Aphasia); MENTAL RETARDATION, APHASIA, SHUFFLING GAIT, AND ADDUCTED THUMBS; Mental Retardation Aphasia Shuffling Gait Adducted Thumbs (MASA); SPASTIC PARAPLEGIA 1, X-LINKED; Spastic paraplegia 1; Thumb congenital clasped with mental retardation
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: L1 Syndrome
L1 syndrome involves a phenotypic spectrum ranging from severe to mild and includes three clinical phenotypes: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS). MASA (mental retardation [intellectual disability], aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs) syndrome including X-linked complicated hereditary spastic paraplegia type 1. X-linked complicated corpus callosum agenesis. Males with HSAS are born with severe hydrocephalus, adducted thumbs, and spasticity; intellectual disability is severe. In less severely affected males, hydrocephalus may be subclinically present and documented only because of developmental delay; intellectual disability ranges from mild (IQ: 50-70) to moderate (IQ: 30-50). It is important to note that all phenotypes can be observed in affected individuals within the same family.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Connie Stumpel
Yvonne J Vos
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Available tests

56 tests are in the database for this condition.

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Clinical tests (56 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAML1, CD171, HSAS, HSAS1, HYCX, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1, L1CAM
    Summary: L1 cell adhesion molecule

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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