Foot deformities in methyl-CpG binding protein 2 (MECP2) disorders are thought to be common, but reports are scant. The purpose of this study was to report the prevalence and type of foot deformities and surgical management for MECP2 disorders. In this retrospective, comparative study, all children presenting between June 2005 and July 2020, with a genetically confirmed MECP2-related disorder, were included. The primary outcome measure was the prevalence of surgery for foot deformities. Secondary outcomes included type and frequency of foot surgeries, age at surgery, ambulatory status, genetic severity, presence of scoliosis/hip displacement, seizures, and associated comorbidities. Chi-square testing was utilized for the analysis of risk factors. Fifty-six patients (Rett syndrome: N = 52, MECP2 duplication syndrome: N = 4; 93% female) met the inclusion criteria. The mean age at first presentation to orthopedics was 7.3 (SD, 3.9) years, with a final follow-up of 4.5 (SD, 4.9) years. Seven (13%) patients developed foot deformities, most commonly equinus or equinovarus (five patients, 71%), requiring surgical management. The remaining two patients had calcaneovalgus. The most common surgical procedure was Achilles tendon lengthening, followed by triple arthrodesis, at a mean age of 15.9 (range: 11.4-20.1) years. Hip displacement (P = 0.04), need for hip surgery (P = 0.001) and clinically relevant scoliosis (P = 0.04) were significant risk factors for the development of symptomatic foot deformities. Although not as prevalent as scoliosis or hip displacement, foot deformities are still relatively common in MECP2 disorders, often necessitating surgical intervention to improve brace tolerance. Level of evidence: Level III - a retrospective comparative study.
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