This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant 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 include interventions such as cochlear implantation.
For more information, visit GARD.