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Genetic and Rare Diseases Information Center (GARD)

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Pontine tegmental cap dysplasia


Other Names for this Disease

  • PTCD
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Overview

Pontine tegmental cap dysplasia (PTCD) is a non-progressive disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.[1] Individuals with PTCD may have a collection of medical and devlopmental problems including: hearing impairment, ataxia, language and speech disorders, feeding and swallowing difficulties, heart malformations and facial paralysis. The cause of this condition is unknown.The severity of the medical problems varies among patients. Some patients have a good long-term prognosis with normal intelligence and partial speech.[2] To date, the condition has been identified in less than 20 patients.[3]
Last updated: 5/3/2012

References

  1. What is pontine tegmental cap dysplaisa?. UW Hindbrain Malformation Research Program. 2012; http://depts.washington.edu/joubert/pontinetegmentalcapdysplasia.php. Accessed 4/26/2012.
  2. Briguglio M, Pinelli L, Giordano L, et al. Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients. Orphanet J Rare Dis. 2011; 6:36. http://www.ncbi.nlm.nih.gov/pubmed/21651769. Accessed 4/26/2012.
  3. Desai N, Young L, Miranda M., et al . Pontine tegmental cap dysplasia: the neurotologic perspective. Otolaryngology Head and Neck Surgery. 2011; 6:992-8. http://www.ncbi.nlm.nih.gov/pubmed/21705787. Accessed 4/26/2012.
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  • Orphanet is a European reference portal for¬†information on rare diseases and orphan drugs.¬† Access to this database is free of charge.
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Other Names for this Disease
  • PTCD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.