Rett syndrome

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

Impaired social interactions

Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships.


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PMID (PMCID)
19396824
 FEMALE
A CDKL5 mutated child with precocious puberty.
Saletti V, Canafoglia L, Cambiaso P, Russo S, Marchi M, Riva D.
Am J Med Genet A. 2009;149A(5):1046-51.
Most patients also show impaired social interaction with avoidance of eye-to-eye contact, and some clinical features reminiscent of Rett syndrome (RTT), including stereotypic hand movements, lack of purposeful hand use, acquired microcephaly, and generalized hypotonia.