Rett syndrome

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

Facial hypotonia

Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).


Total: 1

                       


(per page)
PMID (PMCID)
26596517
 FEMALE Infant
SATB2-associated syndrome presenting with Rett-like phenotypes.
Lee JS, Yoo Y, Lim BC, Kim KJ, Choi M, Chae JH.
Clin Genet. 2016;89(6):728-32.
Moreover, targeted sequencing of the SATB2 gene was performed in a 2-year-old girl with severe psychomotor retardation, facial hypotonia, and cleft palate who also exhibited some features of Rett syndrome.