Rett syndrome is a neurodevelopmental disorder first described in 1966 (Rett, Wien Med Wochnschr 116:723–6, 1966). The characteristic picture includes a regression in learnt motor and social skills often with the later development of increased tone, muscle imbalance and subsequent joint contractures leading to scoliosis and hip subluxation. In the 50 years since the description of Rett Syndrome, progress has been made in understanding the underlying genetic abnormality and the accompanying effects on neurobiology and skeletal growth: in general, the more severe the genotype, the more severe the phenotype (Chahrour and Zoghbi, Neuron 56:422–37, 2007).
Although there is some evidence relating to management and outcome of the scoliosis associated with Rett Syndrome (Downs et al., Dev Med Child Neurol 58:632–8, 2016), there is little literature regarding the incidence, management and prognosis for the hip dysplasia (Tay et al., Dev Med Child Neurol. 52:93–8, 2010).
Principles of management are therefore drawn from other neuromuscular conditions and applied to girls with Rett Syndrome: the outcomes of such surgery are not yet known.
KeywordsRett syndrome Hip dysplasia MeCP2 gene
- 1.Rett A. On an unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochnschr. 1966;116:723–6.Google Scholar