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]

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]

• Broad Great Toe

  Definition An autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet: broad great toes with medial deviation and tarsal-metatarsal coalescence. [uniprot.org]

  The range and severity of symptoms and findings may be extremely variable, and findings may include craniosynostosis ; unusually flat, underdeveloped midfacial regions (midfacial hypoplasia); abnormally broad great toes; and/or malformation or fusion [globalgenes.org]

  The feet show very broad big toes and webbing of the skin between the second and third toes. Additionally, the toes are angled inward. [articlesfactory.com]

  For example, affected individuals may have webbed or fused second and third toes (syndactyly) and/or abnormally short, broad great toes that may bend inward (varus deformities). [rarediseases.org]

• Pain

  Problems Achilles Problems Ankle Problems Arch and Ball Problems Common Foot Injuries Deformities Diseases of the Foot Fungus Problems Heel Problems Nail Problems Skin Problems Toe Problems Vascular/Nerve Problems Medical Care Diagnostic Procedures Pain [regionalfootandankle.net]

  There was a lot of pain involved, but I was on a ton of Morphine, which helped me to just sleep and forget about the pain. As soon as I woke up, the pain was there and I was crying/screaming from it. [globalgenes.org]

  Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain [en.wikipedia.org]

  In some cases, the rash, including painful blisters, may also affect the mouth, soft palate, and top portion of the throat ringing in the ear (tinnitus) and ear pain (otalgia)., transient hearing loss Hurler-Scheie Syndrome (MPS IH/S), accumulation of [slideshare.net]

• Developmental Delay

  The syndrome can cause a number of additional symptoms ranging in severity from developmental delays to seizures. However, with the help of a skilled doctor, the symptoms are often manageable. [thefamilyfootcarecenter.com]

  Type 2 consists of trilobated skull deformity (cloverleaf skull), extreme proptosis, finger and toes abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. [ojrd.biomedcentral.com]

  delays  Growth delays  Speech delays  Intellectual disability  Craniofacial dysmorphism  Recurrent respiratory infections  Sleep apnea  Ventricular septal defects  Dysphagia  Psychomotor delays  Beak shaped nose  Hypertelorism/ptosis  Kyphosis [slideshare.net]

• Asymptomatic

  VMA’ cases. [8] Other terminologies such as ‘asymptomatic VMT’ [7] are also not widely accepted. [eyewiki.aao.org]

  Hyperlactatemia Asymptomatic, low-level increases in lactate are believed to not require intervention, as there is no conclusive evidence that asymptomatic lactate elevations are dangerous in the short term or predictive of more severe lactic academia [thebodypro.com]

  Resting energy expenditure and substrate oxidation in human immunodeficiency virus (HIV)-infected asymptomatic men: HIV affects host metabolism in the early asymptomatic stage. Am J Clin Nutr. 1991 Aug;54(2):311-5. 45. [hivinsite.ucsf.edu]

• Short Stature

  On general examination the boy was of a short stature, had wide nasal bridge (hypertelorism) and mild exophthalmos ( Fig. 1 ). The boy also complained of recurrent headaches and transient visual obscurations. [scialert.net]

  The database, Online Mendelian Inheritance in Man, presents the following as a Clinical Synopsis of Apert syndrome: * Growth Decrease in the rate of growth leading to short stature, in spite of normal birth weight and birth length * Head and Neck Head [rarediseases.org]

  Height (short stature) Nepal  Male: 163 cm (5 feet 4 inch)  Female: 150 cm (4 feet 11 inch) Subramanian, S. V.; Özaltin, Emre; Finlay, Jocelyn E. (2011). [slideshare.net]

• Dyspnea

  • A-V malformations in lung, brain, spinal cord, liver • Dyspnea, hemoptysis, cyanosis, polycythemia vera • Vertigo • Portal hypertension, biliary disease • Hyperdynamic circulation 86 87. 87 88. [slideshare.net]

  Fatigue, weakness, weight loss, tachypnea or dyspnea on exertion, arrhythmias, and neurologic findings have also been reported in the absence of gastrointestinal complaints. 1, 129 Liver abnormalities, including hepatomegaly, hepatic steatosis, and elevated [thebodypro.com]

• Nausea

  Although there was no change in weight, self-reported appetite, nausea, and mood improved significantly over the treatment period. [hivinsite.ucsf.edu]

  They gave me Zofran, an IV anti-nausea med, and I was able to sleep sitting up, and only sitting up. Later on that day, I was in extreme pain and even asked for Oxycodone. I had not had narcotic pain meds in DAYS! The Oxy did not help me much. [globalgenes.org]

  The most common symptoms include nausea, vomiting, and diffuse abdominal pain. [thebodypro.com]

• Vomiting

  I ended up vomiting every single night from over-drainage, until we requested that MY neurosurgeon put in another shunt. That was done on February 10, 2006. He put in an adjustable valve and it ended up lasting about 6 years. [globalgenes.org]

  The most common symptoms include nausea, vomiting, and diffuse abdominal pain. [thebodypro.com]

  […] tolerances; should emphasize the importance of maintaining energy intake, even during periods when eating is not pleasurable; and can give patients techniques for managing HIV- or medication-related symptoms such as anorexia, early satiety, nausea, vomiting [hivinsite.ucsf.edu]

• Foot Deformity

  The surgical procedures involve draining the excess cerebrospinal fluid and correcting craniofacial and foot deformities. Your doctor can also provide genetic counseling that may help you better understand the condition. [advancedosm.com]

  […] of the foot. [news-medical.net]

  […] polydactyly 0001841 Split foot Lobster-claw foot deformity Split-foot [ more ] 0001839 Symphalangism affecting the phalanges of the hand Fused finger bones of the hand 0009773 Percent of people who have these symptoms is not available through HPO Autosomal [rarediseases.info.nih.gov]

• Brachydactyly

  Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly). [jamesonsjourney.com]

  Signs and symptoms of Pfeiffer syndrome include: Bulging eyes Wide-set eyes High forehead Beaked nose Underdevelopment of the upper jaw Prominent lower jaw Protrusion of the eyes Hearing loss (in over 50% of those affected) Short fingers and toes (brachydactyly [medicinenet.com]

  Gene. 1999 Apr 1; 230(1): 69-79 Graham,-J-M; Braddock,-S-R; Mortier,-G-R; Lachman,-R; Van-Dop,-C; Jabs,-E-W Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. [malattierare.regione.veneto.it]

  The bones of the ends of the thumbs (distal phalanges) tend to be unusually broad and may deviate outward (valgus deformity), and the fingers are often unusually short (brachydactyly). [rarediseases.org]

• Hypertelorism

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

  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]

  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]

  Showing of 26 | 80%-99% of people have these symptoms Broad hallux phalanx Broad bone of big toe Wide bone of big toe [ more ] 0010059 Broad metatarsal Wide long bone of foot 0001783 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Midface [rarediseases.info.nih.gov]

• 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]

• Seizure

  The syndrome can cause a number of additional symptoms ranging in severity from developmental delays to seizures. However, with the help of a skilled doctor, the symptoms are often manageable. [thefamilyfootcarecenter.com]

  There are multiple symptoms, but the most common include: Short metatarsal bone Short and wide big toes which bend away from other toes Fused toe bones Bulging forehead Abnormally flat midface Skull deformity Seizures Diagnosis of Jackson-Weiss Syndrome [advancedosm.com]

  Headaches and seizures are attributable to elevated intracranial pressure. Conductive hearing loss is common owing to ear canal steinosis or atresia. [scialert.net]

  Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children Nevus Flammeus or port wine stain Leptomeningeal angiomas, seizures, hemiparesis Glaucoma, bupththalmus, hydropthalmus [slideshare.net]

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]

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]

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]

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

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]

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]

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]

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]

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]