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Diseases

Genetic and Rare Diseases Information Center (GARD)

Severe intellectual disability-progressive spastic diplegia syndrome


Other Names for this Disease
  • Intellectual disability, autosomal dominant 19
  • CTNNB1-related intellectual disability
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Overview

Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.[1][2][3][4]
Last updated: 10/27/2015

References

  1. Dubruc E, Putoux A, Labalme A, Rougeot C, Sanlaville D & Edery P. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. Am. J. Med. Genet. 2014; 164:1571-1575. http://www.medscape.com/medline/abstract/24668549. Accessed 10/12/2015.
  2. Mental retardation, autosomal dominant 19. OMIM. July 24, 2014; http://omim.org/entry/615075. Accessed 10/12/2015.
  3. Tucci V & cols. Dominant beta-catenin mutations cause intellectual disability with recognizable syndromic features. J. Clin. Invest. 2014; 124:1468-1482. http://www.ncbi.nlm.nih.gov/pubmed/24614104. Accessed 10/12/2015.
  4. Kuechler A & cols. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet. January, 2015; 134(1):97-109. http://www.ncbi.nlm.nih.gov/pubmed/25326669. Accessed 10/12/2015.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
Other Names for this Disease
  • Intellectual disability, autosomal dominant 19
  • CTNNB1-related intellectual disability
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.