Individuals presenting with FSS are believed to be at risk for postoperative pulmonary complications ... [accessanesthesiology.mhmedical.com]

Patients present with ulnar deviation (90%) and flexion contracture of fingers (88%) accompanied with adduction of the thumb giving the “windmill vane” appearance. Kyphoscoliosis is present in 85% of cases. Talipes equinovarus is common (60%). [accesspediatrics.mhmedical.com]

In this report, anesthesia approach in case of FSS in whom operation is planned for circumcision and inguinal hernia repair is presented. [longdom.org]

However, there is a broad spectrum of variability in the clinical presentation of FSS to the extent that only orofacial manifestations of the disease can be present without abnormalities of the limbs [12]; thus genetic analysis is often needed to reinforce [hindawi.com]

Fig. 1 Child aged 1 year and 8 months with a typical presentation of Freeman-Burian syndrome (FBS). [ojrd.biomedcentral.com]

• Disability

  Intelligence is unaffected in most people with Freeman-Sheldon syndrome, but around one-third have some degree of learning disability. [contact.org.uk]

  Some children have feeding problems and mild learning disabilities. How is Freeman-Sheldon syndrome diagnosed? As children with Freeman-Sheldon syndrome have a characteristic appearance, no specific diagnostic tests are needed. [gosh.nhs.uk]

  Intelligence is unaffected in most people with Freeman-Sheldon syndrome, but approximately one-third have some degree of intellectual disability. 2. Frequency Freeman-Sheldon syndrome is a rare disorder; its exact prevalence is unknown. 3. [encyclopedia.pub]

  Very rarely research suggests that the condition is inherited in an autosomal recessive pattern which seems to cause a more serious form of the syndrome, with more significant neurological disorders and more severe intellectual disability. [fdna.health]

  Prescribing therapy services for children with motor disabilities. Pediatrics. 2004 Jun. 113(6):1836-8. [Medline]. van Bosse HJP. Orthopaedic care of the child with arthrogryposis: a 2020 overview. Curr Opin Pediatr. 2019 Nov 16. [Medline]. [medscape.com]

• Developmental Delay

  Early interventions hold the possibility to minimise developmental delays and negate the necessity of relearning basic functions. Due to the abnormal muscle physiology in Freeman–Sheldon syndrome, therapeutic measures may have unfavourable outcomes. [owlapps.net]

  Developmental delays may be present in a number of areas, secondary to varying degrees of physical limitations (Ritchie SK. Personal communication. 29 July 2005). [ojrd.biomedcentral.com]

  Early interventions hold the possibility to minimise developmental delays and negate the necessity of relearning basic functions. [bionity.com]

  De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. Am J Hum Genet. 2015;96(3):462-73. Das S, Kumar P, Verma A, Maiti TK, Mathew SJ. [rarediseases.org]

• High Arched Palate

  In addition, associated high-arched palate, hypoplastic mandible, short, relatively immobile neck, and high position of the larynx make direct laryngoscopy and orotracheal intubation difficult or impossible. [journals.lww.com]

  arch in the roof of the mouth (high-arched palate). [contact.org.uk]

  These facial abnormalities include micrognathia, macroglossia, high-arched palate, prominent forehead, and mid-face hypoplasia. [cureus.com]

  Other facial features that may occur in Freeman-Sheldon syndrome include an unusually small tongue (microglossia) and jaw (micrognathia) and a high arch in the roof of the mouth (high-arched palate). [encyclopedia.pub]

• Short Arm

  FSS is caused by a mutation of the embryonic myosin heavy chain MYH3 gene, which is present on the short arm of chromosome 17. [hindawi.com]

• Short Neck

  Short neck MedGen UID: 99267 •Concept ID: C0521525 • Finding Diminished length of the neck. [ncbi.nlm.nih.gov]

A device that expands the mouth for a few hours each day is also a common treatment. Orthodontic and dental treatments are often needed to straighten teeth and improve oral health. Physical therapy is an important component of treatment. [craniofacialteamtexas.com]

The results of talipes treatment are usually very good with few lasting effects, as are the results of hand surgery. The majority of children grow up to lead a normal life, working and raising a family. [gosh.nhs.uk]

Early results of the Ponseti method for the treatment of clubfoot in distal arthrogryposis. J Bone Joint Surg Am. 2008;90(7):1501-7. [rarediseases.org]

Prognosis Several findings and treatment modalities are predictive of overall clinical outcome. [ojrd.biomedcentral.com]

Treatment and outcomes of arthrogryposis in the lower extremity. Am J Med Genet C Semin Med Genet. 2019 Sep. 181 (3):372-84. [Medline]. [Full Text]. Gagnon M, Caporuscio K, Veilleux LN, Hamdy R, Dahan-Oliel N. [medscape.com]

Prognosis There are little data on prognosis. Rarely, some patients have died in infancy from respiratory failure; otherwise, life expectancy is considered to be normal. [owlapps.net]

PMID: 17014544 Prognosis Portillo AL, Poling MI, McCormick RJ J Craniofac Surg 2016 Jul;27(5):1273-6. doi: 10.1097/SCS.0000000000002781. PMID: 27380584 Fisher K, Qasem F, Armstrong P, McConachie I Int J Obstet Anesth 2016 Aug;27:81-4. [ncbi.nlm.nih.gov]

Prognosis Several findings and treatment modalities are predictive of overall clinical outcome. [ojrd.biomedcentral.com]

Darin N, Kimber E, Kroksmark AK, Tulinius M: Multiple congenital contractures: Birth prevalence, etiology and outcome. J Pediatr 2002; 140(1): 61-7. [medigraphic.com]

Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. Arch Pediatr. 2018 Jun 15. [Medline]. Hall JG. [medscape.com]

Etiology Ophthalmic Genet 2022 Feb;43(1):130-133. Epub 2021 Oct 19 doi: 10.1080/13816810.2021.1989603. PMID: 34664542 Portillo AL, Poling MI, McCormick RJ J Craniofac Surg 2016 Jul;27(5):1273-6. doi: 10.1097/SCS.0000000000002781. [ncbi.nlm.nih.gov]

We highlight the different features present in our patient and describe the etiology of the Freeman–Sheldon phenotype and how its clinical complications can be dealt with. [hindawi.com]

Further research is wanted to determine epidemiology of psychopathology in FSS and refine therapy protocols. [owlapps.net]

Condition or disease Intervention/treatment Arthrogryposis Craniofacial Abnormalities Posttraumatic Stress Disorder Depressive Disorder Other: PTSD Checklist-Specific Other: Modified Flanagan Quality of Life Scale Other: Center for Epidemiologic Studies [clinicaltrials.gov]

Further research is wanted to determine epidemiology of psychopathology in FSS and refine therapy protocols. References ^ Freeman, EA; Sheldon JH (1938). "Cranio-carpo-tarsal dystrophy: undescribed congenital malformation". [dictionnaire.sensagent.leparisien.fr]

Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. Am J Med Genet A. 2006 Sep 1. 140A(17):1834-9. [Medline]. Lin IW, Chueh HY, Chang SD, Cheng PJ. [medscape.com]

The epidemiology, prevention, diagnosis, treatment, and outcomes of psychosocial problems in patients and families affected by non-intellectually impairing craniofacial malformation conditions. [rarediseases.org]

Pathophysiology Unknown, but it is thought to involve fibrous replacement of muscles fibers. Diagnosis Facial features and malformations of limbs are typical. [accesspediatrics.mhmedical.com]

The pathophysiology and anaesthetic problems encountered are discussed. Résumé Le syndrome de Freeman-Sheldon est une myopathie congénitale rare associé à une dysplasie. [link.springer.com]

"Persistent elevations of cerebrospinal fluid concentrations of corticotropin-releasing factor in adult nonhuman primates exposed to early-life stressors: implications for the pathophysiology of mood and anxiety disorders". Proc. Natl. Acad. Sci. [dictionnaire.sensagent.leparisien.fr]

Evaluating the biochemical burden and gross physiological consequences of aberrant ATP functioning in FBS are especially important in developing targeted therapeutic interventions that can compensate for this pathophysiology and eventually to correct [ojrd.biomedcentral.com]

Eye-opening improved slightly after several weeks of life; however, the decision was made to proceed with eyelid surgery to prevent deprivation amblyopia. Surgery is scheduled for a future date. [scholars.northwestern.edu]

Littler JW: The prevention and the correction of adduction contracture of the thumb. Clin Orthop 1959; 13: 182-5. Hall J: Arthrogryposis multiplex congenital: etiology, genetics, classification, diagnostic proach and general aspects. [medigraphic.com]

The epidemiology, prevention, diagnosis, treatment, and outcomes of psychosocial problems in patients and families affected by non-intellectually impairing craniofacial malformation conditions. [rarediseases.org]

Studies suggest that the genetic changes prolong muscle contraction and impair relaxation, which prevents movement of the muscles. [medlineplus.gov]

Esch (2002) advocates preventive psychiatry supports to facilitate balance of positive and negative stressors associated with chronic physical pathology [63]. [bionity.com]