Rett syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Postnatal microcephaly

Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.


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PMID (PMCID)
20734096
 MIXED_SAMPLE
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
Le Guen T, Bahi-Buisson N, Nectoux J, Boddaert N, Fichou Y, Diebold B, Desguerre I, Raqbi F, Daire VC, Chelly J, Bienvenu T.
Neurogenetics. 2011;12(1):1-8.
This new case confirms the prediction that congenital variant of Rett syndrome should be found also in males, with the characteristic hallmarks consisting of postnatal microcephaly, dyskinetic movement disorder with Rett-like features, i.e., hand stereotypies, and frontal gyral simplification with myelination delay.
18627055
 FEMALE Child
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.
Papa FT, Mencarelli MA, Caselli R, Katzaki E, Sampieri K, Meloni I, Ariani F, Longo I, Maggio A, Balestri P, Grosso S, Farnetani MA, Berardi R, Mari F, Renieri A.
Am J Med Genet A. 2008;146A(15):1994-8.
Both patients present prominent metopic suture, epicanthic folds, bulbous nasal tip, tented upper lip, everted lower lip and large ears and a clinical course like Rett syndrome, including normal perinatal period, postnatal microcephaly, seizures, and severe mental retardation.
16607827
 FEMALE
[Considerations regarding one particular case of Rett syndrome].
Sireteanu A, Rusu C, Anton D, Covic M.
Rev Med Chir Soc Med Nat Iasi. 2005;109(1):50-2.
Rett syndrome is a form of X-linked mental retardation limited to females, expressed by postnatal microcephaly, moderate/severe mental retardation and prominent autistic features.