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Diseases

Genetic and Rare Diseases Information Center (GARD)

Proud syndrome


Other Names for this Disease
  • ACC with abnormal genitalia
  • Corpus callosum, agenesis of, with abnormal genitalia
  • Micrencephaly - corpus callosum agenesis - abnormal genitalia
  • New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum
  • Proud Levine Carpenter syndrome
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Overview

Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability, agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. Proud syndrome is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.[1][2]
Last updated: 7/1/2015

References

  1. CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA. OMIM. September 2013; http://www.omim.org/entry/300004.
  2. Proud VK, Levine C, Carpenter NJ. New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum. Am J Med Genet. April 1992; 43(1-2):458-466.
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Basic Information

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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Proud syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • ACC with abnormal genitalia
  • Corpus callosum, agenesis of, with abnormal genitalia
  • Micrencephaly - corpus callosum agenesis - abnormal genitalia
  • New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum
  • Proud Levine Carpenter syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.