Pontine tegmental cap dysplasia
Other Names for this Disease
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Patients with pontine tegmental cap dysplasia (PTCD) present with a variety of medical and developmental problems. Not all patients will have the same issues and the severity of symptoms may differ. The following features have been found in studies of patients with PTCD: hearing impairment, feeding and swallowing difficulties that often lead to pneumonia, intellectual disability that ranges from mild to severe, speech and language disorders, hypotonia, ataxia, facial paralysis, reduced vision, and behavioral problems. Individuals with PTCD may also have abnormalities of the heart, gastrointestinal tract, genitourinary system and skeleton.
Last updated: 5/24/2016
- 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.
- Cassandra L. Kniffin. PONTINE TEGMENTAL CAP DYSPLASIA; PTCD. OMIM. 6/18/2012; http://omim.org/entry/614688.