Diagnosis Diagnosis of Jackson-Weiss syndrome is based on the birth defects present. [verywellhealth.com]

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]

As of 2001, FGFR1 has been associated with JWS in only one reported patient who had an unusual presentation of the disorder. [encyclopedia.com]

Symptoms of Jackson-Weiss syndrome Symptoms of Jackson-Weiss syndrome include foot abnormalities, craniosynostosis, and other congenital defects (defects present at birth), including those that cause blindness, seizures, and decreased intellectual capacity [thefamilyfootcarecenter.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]

• Lagophthalmos

  There was strabismus and significant proptosis on ophthalmologic examination, but no lagophthalmos or exposure keratopathy. [news-medical.net]

• Hypertelorism

  Jackson–Weiss syndrome Other names Craniosynostosis, midfacial hypoplasia, and foot abnormalities [1] Jackson–Weiss syndrome is inherited in an autosomal dominant pattern Symptoms Hypertelorism[1] Causes Mutations in the FGFR2 gene [2] Diagnostic method [en.wikipedia.org]

  The most common ocular abnormalities are shallow orbits, ocular proptosis, orbital hypertelorism, strabismus, papilloedema, optic atropy, exoposure keratitis and visual loss. [scialert.net]

  Image Credit: Emma'sPhotos/Shutterstock A majority of patients with JWS exhibit broad hallux phalanx, hypertelorism, midface retrusion, and turricephaly. [news-medical.net]

  Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. [ojrd.biomedcentral.com]

  These may include a relatively flat back region of the head (occiput), underdeveloped midfacial regions (midfacial hypoplasia), and widely spaced eyes (ocular hypertelorism). [rarediseases.org]

• Average Intelligence

  In addition, although most individuals with the disorder have average or above average intelligence and a normal life span, varying levels of intellectual disability have been reported in a few patients. [rarediseases.org]

Treatment Some of the birth defects present in Jackson-Weiss syndrome can be corrected or lessened by surgery. [verywellhealth.com]

Other names Craniosynostosis, midfacial hypoplasia, and foot abnormalities [1] Jackson–Weiss syndrome is inherited in an autosomal dominant pattern Symptoms Hypertelorism[1] Causes Mutations in the FGFR2 gene [2] Diagnostic method Genetic testing[2] Treatment [en.wikipedia.org]

Standard Therapies Treatment The treatment of JWS is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

With treatment from an experienced doctor, many patients with the syndrome are able to lead healthy, happy lives. [thefamilyfootcarecenter.com]

Treatment Treatment 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]

Diagnosis and Prognosis: The misshapen skull is evident at birth. [disorders.eyes.arizona.edu]

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]

Prognosis The lifespan of individuals with JWS is normal. Intelligence is often normal, though borderline intelligence and mental retardation have been described in some patients with JWS. Resources PERIODICALS Roscioli, T., et al. [encyclopedia.com]

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]

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]

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]

[edit] In terms of epidemiology, Jackson–Weiss syndrome is a rare genetic disorder; the overall contribution of FGFR mutation to the condition is not clear. [en.wikipedia.org]

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]

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. [imedpub.com]

Introduction 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. [encyclopedia.pub]

Jackson-Weiss syndrome Classification & external resources OMIM 123150 DiseasesDB 31364 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 [bionity.com]

Mutations in the FGFR2 gene [2] Diagnostic method Genetic testing[2] Treatment Surgery[3] 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 [en.wikipedia.org]