Pontine tegmental cap dysplasia

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Disease Overview

Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.[5197] 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.[5199] 


Synonyms

  • PTCD

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National Organization for Rare Disorders