Atypical Rett syndrome

Orpha code: 3095OMIM code: 613454

Definition

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.

Disease data
Classification

Disease

Synonyms
Atypical RTT
Atypowy RTT
Wariant zespołu Retta
Rett syndrome variant
ORPHA code
3095
OMIM code
613454
ICD10 code
F84.2
ICD11 code
LD90.Y

No additional description.

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