Pontine tegmental cap dysplasia

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Synonyms: PTCD

A rare central nervous system malformation characterized by specific pattern of congenital anomalies affecting the pons medulla and cerebellum. Clinical manifestations of multiple cranial nerves deficits pyramidal and cerebellar signs include neonatal hypotonia ataxia sensorineural deafness reduced vision language and speech disorders feeding and swallowing difficulties facial paralysis and intellectual disability. Various cardiac gastrointestinal genitourinary and skeletal defects have been sometimes reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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