Atypical Rett syndrome

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Synonyms: Atypical RTT | Rett syndrome variant

A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills loss of acquired spoken language gait abnormalities stereotypic hand movements) a period of regression followed by recovery or stabilization and five out of eleven supportive criteria (breathing difficulties bruxism impaired sleep pattern abnormal muscle tone peripheral vasomotor disturbances scoliosis/kyphosis delayed growth small cold hands and feet inappropriate laughter or screaming spells decreased pain sensation and intense eye communication). Like classic Rett syndrome it almost exclusively affects girls while the disease course may be either milder or more severe.

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 July 2024

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