Rett syndrome

Also known as: Rett disorder

X-linked neurodevelopmental disorder with regression after normal early development.

Medical specialty: Neurology
Subspecialty: Neurology / Pediatric neurology; Neurogenetics
Sex & age distribution: Male: affected, rare and often severe (neonatal encephalopathy); Female: affected, nearly all; Children: yes, regression at 6–18 months
Gene(s) involved: CDKL5, FOXG1, MECP2

Etiology & mechanism

MECP2 loss of function.

Gene(s) involved (3)

CDKL5FOXG1MECP2

Symptoms & signs (6)

breathing irregularitieshand stereotypiesloss of hand useloss of speechscoliosisseizures

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.