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Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
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MASA syndrome

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

Synonyms

  • CRASH syndrome
  • CRASH syndrome, X-linked recessive
  • Clasped thumb and intellectual disability
  • Clasped thumb and mental retardation
  • Gareis-Mason syndrome
  • MASA syndrome
  • X-linked complicated hereditary spastic paraplegia type 1
  • X-linked corpus callosum agenesis
  • X-linked spastic paraplegia 1
  • adducted thumb with intellectual disability
  • adducted thumb with mental retardation
  • hereditary spastic paraplegia 1
  • intellectual disability aphasia shuffling Gait adducted thumbs (MASA)
  • intellectual disability, aphasia, shuffling Gait, and adducted thumbs
  • intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome
  • masa syndrome, X-linked recessive
  • mental retardation aphasia shuffling Gait adducted thumbs (MASA)
  • mental retardation, aphasia, shuffling Gait, and adducted thumbs
  • spastic paraplegia 1
  • spastic paraplegia 1, X-linked
  • spastic paraplegia, X-linked
  • thumb congenital clasped with intellectual disability
  • thumb congenital clasped with mental retardation
  • thumb, congenital Clasped, with intellectual disability
  • thumb, congenital Clasped, with mental retardation
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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