Freeman-Sheldon syndrome

An autosomal dominant craniofacial dystosis that is phenotypically similar to Distal Arthrogryposis Type 1 (OMIM: 108120). In addition to CONTRACTURES of the hands and feet, it is characterized by oropharyngeal abnormalities, SCOLIOSIS, and a distinctive FACIES that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' Mutations in the MYH3 gene have been identified. OMIM: 193700

Also Known As:

Networked: 48 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Contracture
2.	Arthrogryposis
3.	Distal arthrogryposis type 2B
4.	Microstomia
5.	Malignant Hyperthermia

Experts

1.	McCormick, Rodger J: 4 articles (07/2016 - 07/2015)
2.	Poling, Mikaela I: 4 articles (07/2016 - 07/2015)
3.	Portillo, Augusto L: 3 articles (07/2016 - 07/2015)
4.	Chamberlain, Robert L: 3 articles (10/2015 - 07/2015)
5.	Bernstein, Sanford I: 2 articles (01/2021 - 01/2019)
6.	Kronert, William A: 2 articles (01/2021 - 01/2019)
7.	Bamshad, Michael J: 2 articles (06/2015 - 05/2006)
8.	Bowman, Scott: 1 article (01/2022)
9.	Castelluccio, Valerie: 1 article (01/2022)
10.	Mets, Marilyn: 1 article (01/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Freeman-Sheldon syndrome:

1.	Anesthetics (Anesthetic Agents)IBA 01/01/2020 - "This report of the anesthetic management of 2 children with Freeman-Sheldon syndrome emphasizes the anesthetic considerations for the successful management of patients with this syndrome." 01/01/2018 - "Anesthetic management of a patient with Freeman-Sheldon syndrome in thoracic surgery." 01/01/2018 - "Anesthetic Considerations for an Adult Patient with Freeman-Sheldon Syndrome Undergoing Open Heart Surgery." 08/01/2016 - "Anesthetic considerations in a parturient with Freeman-Sheldon syndrome." 01/01/2016 - "A Case of Freeman-Sheldon Syndrome: Anesthetic Challenges."
2.	Myosins (Myosin)IBA 01/01/2021 - "Prolonged myosin binding increases muscle stiffness in Drosophila models of Freeman-Sheldon syndrome." 05/06/2016 - "Freeman-Sheldon syndrome (FSS) is a disease associated with missense mutations in the motor domain of this myosin. " 05/06/2016 - "The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects." 06/15/2015 - "The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle." 06/15/2015 - "We measured the contractile properties of individual skeletal muscle cells and the activation and relaxation kinetics of isolated myofibrils from two adult individuals with an R672C substitution in embryonic myosin and distal arthrogryposis syndrome 2A (DA2A) or Freeman-Sheldon syndrome. "
3.	Myosin Heavy Chains (Myosin Heavy Chain)IBA 01/01/2019 - "Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila." 05/01/2006 - "Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome." 01/01/2019 - "Missense mutations in the MYH3 gene encoding myosin heavy chain-embryonic (MyHC-embryonic) have been reported to cause two skeletal muscle contracture syndromes, Freeman Sheldon Syndrome (FSS) and Sheldon Hall Syndrome (SHS). " 05/01/2006 - "Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome (FSS), one of the most severe multiple congenital contracture (that is, arthrogryposis) syndromes, and nearly one-third of all cases of Sheldon-Hall syndrome (SHS), the most common distal arthrogryposis. " 05/01/2009 - "Recently, mutations in skeletal muscle contractile genes MYH3 (myosin heavy chain 3), TNNT3 (troponin T3), and TPM2 (tropomyosin 2) were identified in patients with distal arthrogryposis DA2A (Freeman-Sheldon syndrome) or DA2B (Sheldon-Hall syndrome). "
4.	Troponin T (Troponin T1)IBA 05/01/2009 - "Recently, mutations in skeletal muscle contractile genes MYH3 (myosin heavy chain 3), TNNT3 (troponin T3), and TPM2 (tropomyosin 2) were identified in patients with distal arthrogryposis DA2A (Freeman-Sheldon syndrome) or DA2B (Sheldon-Hall syndrome). " 09/25/2013 - "Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700). "
5.	TropomyosinIBA 05/01/2009 - "Recently, mutations in skeletal muscle contractile genes MYH3 (myosin heavy chain 3), TNNT3 (troponin T3), and TPM2 (tropomyosin 2) were identified in patients with distal arthrogryposis DA2A (Freeman-Sheldon syndrome) or DA2B (Sheldon-Hall syndrome). " 09/25/2013 - "Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700). "
6.	Halothane (Fluothane)FDA Link 09/01/1992 - "Muscle rigidity following halothane anesthesia in two patients with Freeman-Sheldon syndrome." 05/01/1994 - "We describe a case of generalized muscle rigidity in a 2-year-old patient with Freeman-Sheldon syndrome undergoing surgery for eventration of the diaphragm after anesthetic induction with halothane and succinylcholine. "
7.	Cardiac MyosinsIBA 07/02/2023 - "Mutations at a highly conserved homologous residue in three closely related muscle myosins cause three distinct diseases involving muscle defects: R671C in β-cardiac myosin causes hypertrophic cardiomyopathy, R672C and R672H in embryonic skeletal myosin cause Freeman Sheldon syndrome, and R674Q in perinatal skeletal myosin causes trismus-pseudocamptodactyly syndrome. "
8.	Protein Isoforms (Isoforms)IBA 01/01/2021 - "Freeman-Sheldon syndrome (FSS) is characterized by congenital contractures resulting from dominant point mutations in the embryonic isoform of muscle myosin. "
9.	Troponin IIBA 09/25/2013 - "Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700). "
10.	Propofol (Diprivan)FDA LinkGeneric 03/01/2008 - "We report the management of a seven-year-old girl with Freeman-Sheldon syndrome undergoing anterior and posterior spinal surgery and describe a successful anaesthetic regimen based on a total intravenous anaesthesia technique with remifentanil and propofol without neuromuscular blocking agents. "

Therapies and Procedures

1.	Therapeutics 10/22/2015 - "Described are previously unreported features presenting in a case of Freeman-Sheldon syndrome (FSS); these apparently unreported features may substantively inform current therapy and further research. " 07/14/2015 - "We describe two proof-of-concept trials of delayed non-operative therapy of multiple hand and wrist contractures in a woman with a severe expression of Freeman-Sheldon syndrome (FSS), at ages 24 and 28 years. " 07/14/2015 - "Preliminary experience with delayed non-operative therapy of multiple hand and wrist contractures in a woman with Freeman-Sheldon syndrome, at ages 24 and 28 years."
2.	Anesthesia 01/01/2022 - "Patients with Freeman Sheldon syndrome are at increased risk for complications from anesthesia and surgery. " 01/01/2020 - "Anesthesia Challenges in the Management of Freeman-Sheldon Syndrome: Report of Two Cases and Literature Review." 08/01/2005 - "Anesthesia for Freeman-Sheldon syndrome using a folded laryngeal mask airway." 08/01/1999 - "Anesthesia for Freeman-Sheldon syndrome using a laryngeal mask airway." 04/01/1996 - "[Anesthesia in a case of Freeman-Sheldon syndrome]."
3.	Operative Surgical Procedures 01/01/2016 - "Patients with Freeman-Sheldon Syndrome (FSS) often need multiple surgical procedures. " 09/01/1979 - "A child with cranio-carpo-tarsal dysplasia or whistling face syndrome is described together with a new surgical procedure for the correction of the mouth deformity. " 09/01/1979 - "A new surgical procedure for correction of lip deformity in cranio-carpo-tarsal dysplasia (whistling face syndrome)."
4.	General Anesthesia 03/01/1989 - "Whistling face syndrome: general anesthesia and early postoperative caudal analgesia." 11/01/1994 - "An 8-year-old girl with Freeman-Sheldon syndrome underwent surgery under general anesthesia for the correction of lip deformity and microstomia. "
5.	Bronchoscopes 09/01/2005 - "We present successful awake nasotracheal intubation in a 6-year-old patient with typical clinical features of Freeman-Sheldon syndrome by using fiberoptic bronchoscope on two separate occasions." 09/01/2005 - "Awake nasotracheal intubation using fiberoptic bronchoscope in a pediatric patient with Freeman-Sheldon syndrome."