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This is a study to determine what treatments are helpful to patients with Freeman-Sheldon spectrum (FSS), so doctors can have guidance in helping such patients. The group of FSS disorders are very challenging to treat, partly because the big differences in individual patients and lack of information on previous clinical experience with treatment options.
Freeman-Sheldon spectrum (FSS) is a group of three disorders [classic Freeman-Sheldon (FS), Sheldon-Hall (SHS), and distal arthrogryposis multiplex congenita (DA1)] defined histopathologically as non-progressive congenital global human neuromusculoskeletal syndrome. Major features include: talipes equinovarus, camptodactyly with ulnar deviation and overlapping of digits, scoliosis, ocular abnormalities, microstomia, high arched palate, attenuated movement of facial musculature, and various other primary myopathic anomalies. Some individuals present with minimal malformation; rarely patients have died during infancy as a result of respiratory complications.
Classic FS, SHS, and DA1 are poorly understood pathological entities within the same clinical syndrome. Diagnostic criteria has been previously established; however, there has been no focus on therapeutic outcomes. There is limited anecdotal data in single and multiple case reports. Studies are needed to address physiological parameters, in an effort to better understand the underlying pathology and pathophysiology, and subsequent studies will need to address and evaluate surgical, pharmacological, and other types of interventions. Prior to any investigation, however, an understanding of the frequency and severity of features and types of therapies currently being pursued must be ascertained.
The primary objective of the study is to identify the most and least effective and most and least harmful therapeutic modalities. The secondary objective of the study is to collect comprehensive phenotypic data to (1) improve correlation of phenotype and therapeutic response and (2) contribute to nosological classification of FS and related entities. The tertiary objective of the study is to identify areas for further research in therapeutics and diagnosis.
Observational Model: Cohort, Time Perspective: Retrospective
Freeman-Sheldon Research Group, Inc. Headquarters
Freeman-Sheldon Research Group, Inc.
Published on BioPortfolio: 2014-07-23T21:08:46-0400
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