survey study and records review of treatment outcomes in freeman-sheldon syndrome

Conditions: Freeman-Burian Syndrome; Freeman-Sheldon Syndrome; Whistling Face Syndrome; Sheldon-Hall Syndrome; Freeman-Sheldon Syndrome Variant; Arthrogryposis Distal Type 1; Arthrogryposis Distal Type 3; Gordon Syndrome

Summary: the purpose of this study is to evaluate the difference in diagnosis accuracy, treatment outcomes, patient perspectives, facial function and walking ability, emotional and social health, and respiratory complications between freeman-burian syndrome (formerly, freeman-sheldon or whistling face syndrome), sheldon-hall syndrome, and distal arthrogryposis types 3, and 1. the approximate cumulative total time for study-related activities will be 3 hours, including email communication, survey completion, and a medical interview. the study will involve completing 6 short ½ to 1-page surveys and participating in a medical interview. participants may be asked to provide medical records for review. all study-related activities will take place remotely, and no travel is required.

according to the only study of patients and a recent study of individual case reports, freeman-burian syndrome (fbs) may be over-diagnosed by 33-66%, and it is most often confused with sheldon-hall syndrome and distal arthrogryposis (da) types 3 and 1. unfortunately, while these conditions are different from fbs, many think of them as being less severe versions of fbs. this is not true. fbs is a skull and face syndrome, while sheldon-hall syndrome and da types 1 and 3 are syndromes of the arms, legs, hands, and feet that (except da type 1) may have mild face deformities. it is important to understand this difference, fbs does not respond well to treatment. the other syndromes generally do respond well to treatment. to improve diagnosis and treatment, it is important to understand factors contributing to an accurate diagnosis and treatment outcome. to provide better evidence for these being very different syndromes, it also is important to compare the above areas of health between people with all of these syndromes. it is hoped the study will help improve treatment and identify areas for further research.

Eligibility criteria:
inclusion criteria: * patients who are able to provide informed consent or have a legally appointed representative who is able to provide informed consent * patients who have freeman-burian syndrome (formerly, freeman-sheldon syndrome), sheldon-hall syndrome, distal arthrogryposis type 1, or distal arthrogryposis type 3 * persons who speak and read english, german, russian, or czech exclusion criteria: * patients who are not able to provide informed consent or do not have a legally appointed representative who is able to provide informed consent * patients who do not have freeman-burian syndrome (formerly, freeman-sheldon syndrome), sheldon-hall syndrome, distal arthrogryposis type 1, or distal arthrogryposis type 3 * persons who do not speak or read english, german, russian, or czech

Keywords: craniofacial abnormalities arthrogryposis rehabilitation surgery therapy health status quality of life patient reported outcome health-related quality of life depressive symptoms