This study is a research project initiated by the research student (Mikaela I. Poling) and assisted by the clinical genetics fellow (Andrés Morales) in partial fulfilment the FSRG Foundation Programme, under approval, direction, and supervision of the study PI (Rodger J. McCormick) and Sub-Investigator (Richard A. Chamberlain).
Classic FSS, SHS, DA1, and DA3 are poorly understood pathological entities within a similar clinical FSS-like syndrome. Stevenson et al. (2006) provided the only study to date on FSS features and history. They did not, however, focus on therapeutic outcomes, and there was limited anecdotal outcome data in single and multiple case reports.
The study objectives are as follows to evaluate: (1) diagnosis-related outcome trends, (2) feature-specific outcomes, and (3) general interventions' association with outcomes for all and each diagnosis. It is hoped the study will identify areas for further research in physiology and therapeutics in classic FSS, SHS, DA1, and DA3.
The following hypotheses are thus proposed: (1) classic FSS is expected to have the worse overall outcome, involving significant life-long musculoskeletal functional impairment and severe cases involving pulmonary complications; (2) SHS, DA1, and DA3 are expected to show moderate and mild life-long impairment that is also more responsive to intervention and improves with age, even in absence of intervention; (3) spinal, hand, and feet deformities are associated with the worst outcomes that may include life-long functional impairment, especially in classic FSS and SHS; (4) physiotherapy alone or with surgery is expected to be superior to surgery alone in treating most problems; and (5) surgery may have an important role, especially treating blepharophimosis and in combination with intensive pre- and post-operative physiotherapy in treating selective tendon lengthening in hands and feet.