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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
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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 has 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), metabolic causes, drugs (cocaine) or viral infection (influenza). Many patients with corpus callosum anomalies has other brain anomalies, including white matter hypoplasia. There is in 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

  • 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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.