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Last update 08 May 2025

Freeman-Sheldon Syndrome

Last update 08 May 2025

Basic Info

Synonyms

ARTHROGRYPOSIS, DISTAL, TYPE 2A, Arthrogryposis, Distal, Type 2A, CRANIOCARPOTARSAL DYSPLASIA

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Introduction

A rare syndrome that is inherited in an autosomal dominant or recessive pattern and caused by mutations in the MYH3 gene. It is a severe form of arthrogryposis. It is characterized by the presence of distinctive facial features (small mouth, midface hypoplasia, short nose, drooping of the eyelids, deep folds in the area between the nose and the lips, and strabismus), joint deformities that lead to permanently bent fingers and toes, club foot, scoliosis, and walking difficulties.

Clinical Trials associated with Freeman-Sheldon Syndrome

NCT05419245

/ Unknown statusNot ApplicableIIT

Findings, Diagnostic Accuracy, Treatment, and Outcomes in Freeman-Burian Syndrome and Similar-appearing Arthrogryposis Syndromes: a Cross-sectional, Non-randomized Study

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.

Start Date01 Jun 2022

Sponsor / Collaborator-

TCTR20191009004

/ CompletedNot ApplicableIIT

PHYSIOLOGICAL CHANGE IN LUNG FUNCTION AND RESPIRATORY MUSCLE STRENGTH IN CHRONIC OBSTRUCTIVE PULMONARY DISEASE PATIENTS; CAUSE BY PURSED-LIP BREATHING EXERCISE USING WINDMILL TOY MODEL

Start Date01 Oct 2018

Sponsor / Collaborator-

TCTR20160314002

/ RecruitingPhase 1/2

A pilot, comparison study of the treatment in acute attack of neuromyelitisoptica: Intravenous methylprednisolone versus plasma exchange alone

Start Date14 Mar 2016

Sponsor / Collaborator-

100 Clinical Results associated with Freeman-Sheldon Syndrome

100 Translational Medicine associated with Freeman-Sheldon Syndrome

0 Patents (Medical) associated with Freeman-Sheldon Syndrome

972

Literatures (Medical) associated with Freeman-Sheldon Syndrome

01 May 2025·Schizophrenia Research

Symptom networks of psychotic experiences and functional somatic symptoms in adolescence: A cross-sectional study of two population-based cohorts

Article

Author: Rask, Charlotte Ulrikka ; Rosmalen, Judith G M ; Rimvall, Martin Køster ; Wit, Ernst C ; Jeppesen, Pia ; van Os, Jim ; Verhulst, Frank ; Balafas, Spyros ; Wigman, Johanna T W

BACKGROUNDContemporary theoretical models underlying development of psychotic- and functional disorders show similarities, including attribution of aberrant salience to everyday (bodily) sensations and an increased tendency of top-down generation of perception. In two general population samples of adolescents, we aimed to examine potential associations between subclinical phenomena, namely functional somatic symptoms (FSS) and psychotic experiences (PE).METHODSWe used data from two cohorts of adolescents aged 15-17 years: the Copenhagen Child Cohort 2000 (Denmark, n = 2550) and the TRacking Adolescents' Individual Lives Survey (the Netherlands, n = 1665). We identified comparable self-reported symptoms of FSS and PE respectively in each cohort. The cohort data were analyzed separately to enable replication, and mixed graphical models were used to estimate symptom networks. First, networks including only FSS and PE were modelled. Second, an emotional symptom score was included in the networks.RESULTSWhile numerous specific symptom-to-symptom cross-domain associations were not replicated, symptom networks of the two cohorts overall showed relatively comparable patterns. Delusions of persecution showed the strongest connection with FSS in both cohorts. In the models including emotional symptoms, emotional problems were associated with many PE and FSS, but did not fundamentally change the structure of the original networks.CONCLUSIONUsing a symptom-based approach the current study lent little support to the notion of specific associations between PE and FSS, yet associations between FSS and PE in adolescence were found in both cohorts. The associations between the two domains could not be fully explained by shared associations with emotional problems.

01 Apr 2025·International Journal of Gynecology & Obstetrics

Oncological safety of fertility preservation treatment in ovarian cancer: A Spanish multicenter study

Article

Author: Lekuona, Arantxa ; Cardenas, Laura ; Alkourdi, Amira ; Lamarca, Marta ; Marti, Lola ; Diaz‐Feijoo, Berta ; Hernandez, Alicia ; Niguez, Isabel ; Heras, Marta ; Azcona, Leticia ; Gil‐Ibañez, Blanca ; Amengual, Joana ; Arencibia, Octavio ; Cabezas, Maria Nieves ; Gorostidi, Mikel ; Ribot, Laia ; Minig, Lucas ; Bellon, Monica ; Zapardiel, Ignacio ; Boldo, Ana

AbstractObjectiveTo assess the safety of fertility‐sparing treatments for early‐stage ovarian cancer in women younger than 40 years old.MethodsWe performed a retrospective multicenter study including women aged 18–40 years diagnosed with early‐stage (FIGO I–II) ovarian cancer in 55 Spanish hospitals, from January 2010 to December 2019. Benign and borderline tumors were excluded, as well as advanced stages (FIGO III–IV). All perioperative characteristics and follow‐up data were collected and analyzed. Standard staging surgery (SSS) was compared with fertility‐sparing surgery (FSS) in terms of oncological outcomes.ResultsIn all, 366 women were included; 327 (89.3%) were stage I. Among all patients, 216 (59%) underwent SSS and 150 (41%) FSS. Up to 208 (56.8%) patients did not have children, but only 12 (3.2%) had oocyte preservation before treatment. Patients in the FSS group compared with the SSS group showed a non‐significant difference in recurrences (8% vs. 9.3%, respectively; P < 0.711) and deaths (1.3% vs. 4.8%, respectively; P = 0.211) during the follow‐up. No significant differences were found between epithelial and non‐epithelial ovarian cancer both in recurrences (7.1% vs. 8.8%, respectively; P = 0.771) and in deaths (1.4% vs. 1.3%, respectively; P = 1) among patients who underwent FSS.ConclusionFSS seems a safe option for treatment of early‐stage ovarian cancer in patients who want to preserve fertility, either for epithelial and non‐epithelial histology.

04 Mar 2025·Applied Neuropsychology: Adult

Cognitive deficits in multiple sclerosis: Auditory and visual attention and inhibitory control

Article

Author: Roozbeh, Mahrooz ; Rostami, Mohammad ; Simani, Leila ; Shojaei, Maziyar ; Roozbeh, Mehrdad ; Sahraian, Mohammad Ali

BACKGROUNDA growing body of evidence has been paid to the cognitive impairment in patients with multiple sclerosis (MS). However, studies concerning cognitive functions in MS have also yielded conflicting results. This study investigates the attention and inhibitory control functions in patients with MS and their relationship with other clinical features, such as depression and fatigue in these patients.METHODSParticipants included 80 patients with MS and 60 healthy controls. The attention and inhibitory control, fatigue, and psychiatric screening in all subjects were studied, respectively with the Integrated Visual and Auditory Continuous Performance Test (IVA-CPT), Fatigue Severity Scale (FSS), and the Hospital Anxiety and Depression Scale (HADS).RESULTSPatients with MS performed the IVA-CPT task more poorly than the healthy control group (p < 0.001). However, multiple regression analysis did not show any significant relationship between disease duration, FSS, and HADS on attention and inhibitory control.CONCLUSIONInhibitory control and attention are significantly impaired in patients with MS. Finding the basics of cognitive deficits in MS have potentially important clinical implications for developing better cognitive rehabilitation strategies.

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Freeman-Sheldon Syndrome

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