No hand deformities are present. There may be cutaneous syndactyly of the second and third toes. Variable tarsal fusion is often present. The great toe may be abnormally broad and deviated medially.[disorders.eyes.arizona.edu]
Diagnosis Diagnosis of Jackson-Weiss syndrome is based on the birth defects present.[verywellhealth.com]
Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome JWS Prevalence: Inheritance: Autosomal dominant Age of onset: Neonatal ICD-10: Q87.8 OMIM: 123150 UMLS: C0795998 MeSH: C537559 GARD: 6796 MedDRA: - The documents contained in this web site are presented[orpha.net]
Presentation Many of the characteristic facial features of Jackson-Weiss syndrome result from the premature fusion of the skull bones and foot bones.[pages.rediff.com]
When the extracellular matrix presents mutation of FGFR2, it begins to secrete cytokines both in autocrine and paracrine manner, and these may modify the very matrix.[jorr.org]
Some individuals with JWS may also have additional physical abnormalities such as limitation of joint movements and/or a condition in which the legs are abnormally curved inward, with the knees close together and the ankles widely separated (genuvalgum[rarediseases.org]
The treatment of JWS is typically directed toward the specific symptoms that are apparent in each individual. 0010059 Broad metatarsal Wide long bone of foot 0001783 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Midface retrusion Decreased[rarediseases.info.nih.gov]
More severely affected individuals (for example, IV:11 and III:3) are male and have scaphocephaly, macrocephaly, a high forehead, marked mid-facehypoplasia with severe maxillary retrusion, relative or absolute prognathism, and class III malocclusion.[jmg.bmj.com]
TreatmentTreatment Options: There is no treatment beyond surgical correction of selected malformations. The risk of exposure keratitis requires constant vigilance and appropriate corneal lubrication.[disorders.eyes.arizona.edu]
Treatment Some of the birth defects present in Jackson-Weiss syndrome can be corrected or lessened by surgery.[verywellhealth.com]
Standard Therapies Treatment The treatment of JWS is directed toward the specific symptoms that are apparent in each individual.[rarediseases.org]
Scimitar syndrome : incidence, treatment and prognosis. Eur J Pediatr 2008; 167: 155-60. - Singh A, Sharma N. Anaesthetic Management of Scimitar Syndrome: A Case Report.[sites.uclouvain.be]
My prognosis was only 3 months!!!! I was transferred to Children’s Hospital Boston when I was 4 hours old. Who would have ever thought that they would be the ones to save my life?! And here my journey begins.[craniocarebears.org]
Prognosis depends on the severity of malformations. Innovations in craniofacial surgery have enabled patients to achieve their full potential by maximizing their opportunities for intellectual growth, physical competence and social interaction.[scialert.net]
[…] reduce exophthalmoses, to correct the occlusion to an appropriate functional position, and to provide for a more normal appearance. [3] It is one of the few syndromes where the cosmetic results of plastic surgery can be strikingly effective. [1], [3] Prognosis[jorr.org]
An etiologic and nosologic overview of craniosynostosis syndromes. Birth Defects Orig. Artic. Ser., 11: 137-184. PubMed Cohen, M.M. Jr. and S. Kreiborg, 1992.[scialert.net]
Rheumatoid arthritis (RA) is the most common underlying etiology of tendon rupture in the hand and wrist and is the usual clinical setting in which the term Vaughan-Jackson syndrome is employed.[emedicine.medscape.com]
Etiology Mutations in the fibroblast growth factor receptor ( FGFR ) genes cause Pfeiffer syndrome: FGFR1 (on chromosome 8p11.2-p11) and FGFR2 (on chromosome 10q26) [ 4 ].[ojrd.biomedcentral.com]
In addition to secondary infections, aphthous ulcers, chronic diarrhea, or malabsorption of any etiology; depression; and other contributors to anorexia should be treated.[hivinsite.ucsf.edu]
The etiology is likely to involve the effect of HIV per se as well as the direct and indirect effects of ART, superimposed on individual characteristics such as genetic predisposition, gender, and age.[thebodypro.com]
Epidemiology Jackson-Weiss syndrome is a rare genetic disorder; its incidence is unknown. Genetics Mutations in the FGFR2 gene cause Jackson-Weiss syndrome. The FGFR2 gene produces a protein called fibroblast growth factor receptor 2.[pages.rediff.com]
Epidemiology Pfeiffer syndrome affects about 1 in 100,000 individuals. Clinical description A craniosynostosis in association with short, broad thumbs and big toes are the major diagnostic clues for Pfeiffer syndrome.[ojrd.biomedcentral.com]
Alderman BW et al. (1988) An epidemiologic study of craniosynostosis: risk indicators for the occurrence of craniosynostosis in Colorado. Am J Epidemiol 128: 431-433. Abstract on PubMed. 5.[forgottendiseases.org]
Epidemiology In the United States, the vast majority of tendon ruptures occur in patients with RA, and the incidence of extensor tendon involvement is 10-15 times that of flexor tendon involvement.[emedicine.medscape.com]
Epidemiology The prevalence of isolated VMT syndrome is reported to be 22.5 per 100,000 population. The annual incidence of isolated VMT syndrome is 0.6 per 100,000 population.[eyewiki.aao.org]
Octave Crouzon in 1912, first described the hereditary syndrome of craniofacial dysostosis and Atkinson in 1937, reviewed 86 cases that were published and found about 67% of the cases were familial and 33% were sporadic, representing new mutations. [6] Pathophysiology[jorr.org]
[…] longus (EPL) in the vicinity of Lister's tubercle within the third dorsal compartment [4] and rupture of the flexor pollicis longus (FPL) and index-finger flexor digitorum profundus (FDP) tendons within the carpal tunnel (ie, Mannerfelt syndrome). [5] Pathophysiology[emedicine.medscape.com]
Pathophysiology and medical treatment of pain in fibrous dysplasia of bone. Orphanet J Rare Dis. 2012;7:S3 171 172. Allanson JE. Noonan Syndrome.[slideshare.net]
Pathophysiology With age, the vitreous gel undergoes liquefaction forming pockets of fluid within the vitreous (synchysis) which leads to a contraction or condensation (syneresis) of the vitreous.[eyewiki.aao.org]
[…] has been associated with acute infections,(40,41) whereas more gradual weight loss has been associated with malabsorptive disorders.(41) Patients with HIV infection have also been shown to experience periods of weight stability and weight gain.(41) Pathophysiology[hivinsite.ucsf.edu]
This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones.[tcapp.org]
Description: Jackson-Weiss syndrome (JWS) is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull ( craniosynostosis ), which prevents further growth of the skull and affects the shape of the head[pages.rediff.com]
Jackson–Weiss syndrome ( JWS ) is a genetic disorder characterized by foot abnormalities and the premature fusion of certain bones of the skull ( craniosynostosis ), which prevents further growth of the skull and affects the shape of the head and face[en.wikipedia.org]