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

D

Dufresne, Craig, MD, PC

Status

Enrolling

Conditions

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

Treatments

Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview
Other: Center for Epidemiologic Studies Depression Scale
Other: FACE-Q | Craniofacial - Appearance of the Face
Other: Review of Systems
Other: FACE-Q | Craniofacial - Appearance Distress
Other: Modified Flanagan Quality of Life Scale
Other: Guided Health History for Freeman-Burian Syndrome Questionnaire
Other: FACE-Q | Craniofacial - Facial Function
Other: Medical Records Review
Other: PTSD Checklist for DSM-5

Study type

Observational

Funder types

Other

Identifiers

NCT05419245
U1111-1120-5851 (Other Identifier)

Details and patient eligibility

About

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.

Full description

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.

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Enrollment

20 estimated patients

Sex

All

Volunteers

No Healthy Volunteers

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

Trial design

20 participants in 6 patient groups

Freeman-Sheldon syndrome Classic Type
Description:
Patients who have all features required by the Stevenson criteria, including: very small mouth (microstomia); whistling-face appearance (pursed lips); "H" or "V" shaped chin dimple; very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases); and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Treatment:
Other: Medical Records Review
Other: FACE-Q | Craniofacial - Appearance Distress
Other: Modified Flanagan Quality of Life Scale
Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview
Other: Guided Health History for Freeman-Burian Syndrome Questionnaire
Other: FACE-Q | Craniofacial - Facial Function
Other: PTSD Checklist for DSM-5
Other: Review of Systems
Other: Center for Epidemiologic Studies Depression Scale
Other: FACE-Q | Craniofacial - Appearance of the Face
Freeman-Sheldon syndrome Craniofacial Type
Description:
Patients who have only the face and skull physical findings required by the Stevenson criteria, including: very small mouth (microstomia), whistling-face appearance (pursed lips), "H" or "V" shaped chin dimple, very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases).
Treatment:
Other: Medical Records Review
Other: FACE-Q | Craniofacial - Appearance Distress
Other: Modified Flanagan Quality of Life Scale
Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview
Other: Guided Health History for Freeman-Burian Syndrome Questionnaire
Other: FACE-Q | Craniofacial - Facial Function
Other: PTSD Checklist for DSM-5
Other: Review of Systems
Other: Center for Epidemiologic Studies Depression Scale
Other: FACE-Q | Craniofacial - Appearance of the Face
Freeman-Sheldon syndrome Mixed Type
Description:
Patients who have the face and skull physical findings required by the Stevenson criteria and some but not all required joint problems.
Treatment:
Other: Medical Records Review
Other: FACE-Q | Craniofacial - Appearance Distress
Other: Modified Flanagan Quality of Life Scale
Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview
Other: Guided Health History for Freeman-Burian Syndrome Questionnaire
Other: FACE-Q | Craniofacial - Facial Function
Other: PTSD Checklist for DSM-5
Other: Review of Systems
Other: Center for Epidemiologic Studies Depression Scale
Other: FACE-Q | Craniofacial - Appearance of the Face
Sheldon-Hall syndrome
Description:
Patients who have all features required by the Stevenson criteria, including: small mouth (not microstomia); neck webbing (pterygium colli); small but prominent chin; very obvious down-slanting crease from the nostril to the corners of the mouth (nasolabial creases); and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Treatment:
Other: Medical Records Review
Other: FACE-Q | Craniofacial - Appearance Distress
Other: Modified Flanagan Quality of Life Scale
Other: Freeman-Burian syndrome Semi-Structured Quality of Life Interview
Other: Guided Health History for Freeman-Burian Syndrome Questionnaire
Other: FACE-Q | Craniofacial - Facial Function
Other: PTSD Checklist for DSM-5
Other: Review of Systems
Other: Center for Epidemiologic Studies Depression Scale
Other: FACE-Q | Craniofacial - Appearance of the Face
Distal Arthrogryposis Type 1
Description:
Patients with features consistent with this diagnosis, including restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Treatment:
Other: Medical Records Review
Other: Modified Flanagan Quality of Life Scale
Other: PTSD Checklist for DSM-5
Other: Review of Systems
Other: Center for Epidemiologic Studies Depression Scale
Distal Arthrogryposis Type 3
Description:
Patients with features consistent with this diagnosis, including: gap in the roof of the mouth (cleft palate); drooping eyelid (blepharoptosis); and spine curve problems; and restricted movement in joints (contractures) of two or more body areas, often hands and feet, with fingers and toes frequently overlapping.
Treatment:
Other: Medical Records Review
Other: FACE-Q | Craniofacial - Appearance Distress
Other: Modified Flanagan Quality of Life Scale
Other: FACE-Q | Craniofacial - Facial Function
Other: PTSD Checklist for DSM-5
Other: Review of Systems
Other: Center for Epidemiologic Studies Depression Scale
Other: FACE-Q | Craniofacial - Appearance of the Face

Trial contacts and locations

1

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Central trial contact

Craig R Dufresne, MD; Mikaela I Poling, BA

Data sourced from clinicaltrials.gov

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