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Diseases

Genetic and Rare Diseases Information Center (GARD)

White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome


Other Names for this Disease
  • Curatolo Cilio Pessagno syndrome
  • Familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency
  • Curatolo-Cilio-Pessagno syndrome
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Overview

White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, wide spaced eyes (hypertelorism) and a very small chin (micrognathia); failure to thrive; severe intellectual disability; and lack of muscle tone (hypotonia). Exams of the brain showed a poor development (hypoplasia) of the pale part of the brain known as white matter, and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have being described. The cause is unknown but may be related to a disorder of axonal development.  The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy, or psychiatric syndromes.[6] It can be part of several genetic syndromes, such as Aicardi syndrome, Andermann syndrome and Apert syndrome, trisomies 13, 18; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition.[1][13352]
Last updated: 4/26/2016

References

  1. Curatolo P, Cilio MR, Del Giudice E, Romano A, Gaggero R & Pessagno A. . Familial white matter hypoplasia, agenesis of the corpus callosum, mental retardation and growth deficiency: a new distinctive syndrome. Neuropediatrics. April, 1993; 24(2):77-82. http://www.ncbi.nlm.nih.gov/pubmed/8327066.
  2. Jonas RE, Kimonis VE & Morales A. Possible new autosomal recessive syndrome of partial agenesis of the corpus callosum, pontine hypoplasia, focal white matter changes, hypotonia, mental retardation, and minor anomalies. Am J Med Genet. December 12, 1997; 73(2):184-8. http://www.ncbi.nlm.nih.gov/pubmed/9409870.
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In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Curatolo Cilio Pessagno syndrome
  • Familial white matter hypoplasia, agenesis of the corpus callosum, intellectual disability and growth deficiency
  • Curatolo-Cilio-Pessagno 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.