Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome

2014-07-23 21:08:46 | BioPortfolio


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.

Study Design

Observational Model: Cohort, Time Perspective: Retrospective




Freeman-Sheldon Research Group, Inc. Headquarters
West Virginia
United States




Freeman-Sheldon Research Group, Inc.

Results (where available)

View Results


Published on BioPortfolio: 2014-07-23T21:08:46-0400

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PubMed Articles [13 Associated PubMed Articles listed on BioPortfolio]

Health-related quality of life and orthosis use in a Swedish population with arthrogryposis.

Joint contractures are the main characteristics for children with arthrogryposis multiplex congenita. Orthoses are often used to enable or facilitate walking.

Speech-language pathology aspects in a pediatric case of head and neck arthrogryposis.

Arthrogryposis is a rare, multiple, congenital syndrome of non-progressive nature characterized by a series of genetic malformations, as well as stiffness and joint contractures. This is a clinical ca...

Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.

Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple congenital limb contractures and comprise at least 10 clinical subtypes. Here, we desc...

Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping.

Heterozygous mutations in TOR1A gene are known to be responsible for DYT1 dystonia with incomplete penetrance. Autosomal recessive TOR1A disease is a very recently described syndrome characterized by ...

Validation of the Oswestry Disability Index for pain and disability in arthrogryposis multiplex congenita.

Chronic musculoskeletal pain and disability is common in adults with arthrogryposis multiplex congenita (AMC), but validated outcome measures of its related disability are lacking. This study aimed to...

Medical and Biotech [MESH] Definitions

Persistent flexure or contracture of a joint. (Dorland, 27th ed)

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