Pontine tegmental cap dysplasia

Engelsk navn: Pontine tegmental cap dysplasia
Engelske synonym: 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.

Fra Orphanet

ORPHA: 269229
Klassifiseringsnivå: Disorder
ICD-10: Q04.8

Mer informasjon

Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)