Pontine tegmental cap dysplasia
Other Names for this Disease
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developmental delay, cranial nerve dysfunction, and malformation of the hindbrain. Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia, language and speech disorders, feeding and swallowing difficulties, heart malformations and facial paralysis. The severity of the medical problems varies among patients. Some patients have a good long-term prognosis with normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may interventions such as cochlear implantation.Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant
Last updated: 5/24/2016
- What is pontine tegmental cap dysplaisa?. UW Hindbrain Malformation Research Program. 2012; http://depts.washington.edu/joubert/pontinetegmentalcapdysplasia.php.
- 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.
- The University of Washington's Hindbrain Malformation Research Program has more information on this condition.
- 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.
- 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 Pontine tegmental cap dysplasia. Click on the link to view a sample search on this topic.