[…] features of Weill-Marchesani syndrome Case: A 22-year-old man presented with high myopia and progressive visual disturbance. [nepjol.info]

It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person. Disclaimer: Whonamedit? does not give medical advice. [whonamedit.com]

Case presentation A 30-year-old female presented at our hospital with blurred vision in her left eye for the past year. [bmcophthalmol.biomedcentral.com]

Some patients also present with congenital glaucoma, or may develop in later years. [accessanesthesiology.mhmedical.com]

Keywords :Weill Marchesani, Microspherophakia, Myopia Photo Essay A 6-year-old girl presented with complain of maintaining a close reading and writing distance, noticed by parents for 1 year. [djo.org.in]

• Short Stature

  Several of these persons had arachnodactyly and were regarded as having the Marfan syndrome, but two were of stunted stature with short, stiff digits. [whonamedit.com]

  Weill-Mar·che·sa·ni syn·drome ( vīl mahr-kā-sah'ne ), [MIM*277600] ectopia lentis (lens abnormally round and small), short stature, and brachydactyly; autosomal recessive inheritance. [medical-dictionary.thefreedictionary.com]

  There was no significant difference between both groups for myopia, glaucoma, cataract, short stature, brachydactyly, thick skin, muscular build, and mental retardation. [typeset.io]

  Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am J Hum Genet. 2009 Nov;85(5):558-68. [disorders.eyes.arizona.edu]

• Short Finger

  He recognised that although ectopia lentis was a feature of the Marfan syndrome, the patients whom he had studied had short fingers rather than arachnodactyly. [whonamedit.com]

  The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness. [rarediseases.oscar.ncsu.edu]

  Systemic Manifestation of Weill Marchesani Syndrome 1- Short stature. 2- Joint stiffness. 3- Brachydactyly. Short fingers and Toes. 4- Mental Retardation. [webeyeclinic.com]

  People with this syndrome are usually short in height and often have short fingers and limited joint movement, especially of the hands. [rareguru.com]

  short fingers (brachydactyly); and distinctive eye (ocular) abnormalities. [wikiwand.com]

• Broad Thorax

  thorax [ 1 ]. [link.springer.com]

• Diarrhea

  Página 54 - Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. ‎ Página 51 - Selective IgA deficiency: presentation of 30 cases and a review of the literature. ‎ [books.google.es]

• Hypotension

  She underwent Nd:YAG laser peripheral iridotomy BE and was started on ocular hypotensive medications. The patient was planned for sequential pars plana lensectomy and scleral fixated intraocular lens. [nmji.in]

• Brachydactyly

  There was no significant difference between both groups for myopia, glaucoma, cataract, short stature, brachydactyly, thick skin, muscular build, and mental retardation. [typeset.io]

  Weill-Mar·che·sa·ni syn·drome (vīl mahr-kā-sah'ne), [MIM*277600] ectopia lentis (lens abnormally round and small), short stature, and brachydactyly; autosomal recessive inheritance. [medical-dictionary.thefreedictionary.com]

  Conclusion: Weill-Marchesani syndrome can present wwith progressive myopia in a person of short stature and brachydactyly. [nepjol.info]

  The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness. [rarediseases.oscar.ncsu.edu]

• Severe Short Stature

  They are highly heterogeneous and can cause a broad phenotypic spectrum from mild and isolated short stature to severe and syndromic short stature [1, 5, 6]. [amjcaserep.com]

  Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature. Al Motawa MNA, Al Shehri MSS, Al Buali MJ, Al Agnam AAM. Al Motawa MNA, et al. Am J Case Rep. 2021 May 31;22:e930824. doi: 10.12659/AJCR.930824. [pubmed.ncbi.nlm.nih.gov]

  Short Stature with Review of the Literature. 62 Al Motawa MNA...Al Agnam AAM 34057920 2021 49 Alternative splicing of the metalloprotease ADAMTS17 spacer regulates secretion and modulates autoproteolytic activity. 62 Balic Z...Hubmacher D 33484187 2021 [malacards.org]

  WMS is characterized by short limbs, joint stiffness and ocular defects, whilst fibrillin-1 AD and GD have severe short stature, joint defects and thickened skin. We previously showed that TB5 binds heparin. [journals.plos.org]

• Fracture

  Considerations 239 Evaluation of Results of Ligament Reconstruction 240 Comparison of Grip Strength Evolution After Carpal Tunnel Release by Three Different Techniques 241 Results 242 Discussion 244 Conclusion 245 Median Nerve Compression Secondary to Fractures [books.google.es]

• Ectopia Lentis

  In 1939 Marchesani documented a boy aged eight years and three siblings in another family, all of whom had ectopia lentis. [whonamedit.com]

  Weill-Mar·che·sa·ni syn·drome (vīl mahr-kā-sah'ne), [MIM*277600] ectopia lentis (lens abnormally round and small), short stature, and brachydactyly; autosomal recessive inheritance. [medical-dictionary.thefreedictionary.com]

  DIFFERENTIAL DIAGNOSIS Subluxed lens • Marfan syndrome • Homocystinuria • Sulfite oxidase deficiency • Hyperlysinemia • Simple dominant ectopia lentis • Ectopia lentis et pupillae • Glaucoma-lens ectopia–microspherophakia–stiffness–shortness (GEMSS) syndrome [entokey.com]

  Search Login Register Description : Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature [curehunter.com]

• Diplopia

  This will lead to blurry vision, diplopia, or abnormal movements of the colored regions of the eyes. Formation of cataracts at a very young age is also fairly common in people with Weill Marchesani Syndrome. [epainassist.com]

  Ectopia lentis may be characterized by shifting or tilting (i.e., partial displacement or subluxation) or complete dislocation (luxation) of the lenses, resulting in blurring of vision, double vision (diplopia), and/or quivering movements of the colored [rarediseases.org]

• Microphakia

  He also had severe myopia, microphakia and the same characteristic features as his father corresponding to Weill–Marchesani syndrome (joint stiffness). [academic.oup.com]

Treatment Treatment Options: Glaucoma requires the usual treatments. The lens may need to be removed for visual rehabilitation and/or lens induced glaucoma. [disorders.eyes.arizona.edu]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Physical therapy and orthopedic treatments are generally prescribed for problems stemming from mobility from this connective tissue disorder. [en.wikipedia.org]

More on Genetics of Weill-Marchesani syndrome » Treatments: Weill-Marchesani syndrome Treatment : There is no cure for Weill-Marchesani syndrome, and treatment focuses addressing the symptoms that develop. [familydiagnosis.com]

However, this disorder has no cure, and generally, treatments are given to improve quality of life. [2] See also ADAMTS10 FBN1 References ↑ Harasymowycz, P; Wilson, R (2005), "Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani [wikidoc.org]

Prognosis Prognosis is good. [orpha.net]

Diagnosis and Prognosis: The diagnosis is often made by an eye doctor based on extreme nearsightedness and the abnormally shaped lens. Life span is normal provided any cardiac defects are appropriately treated. [disorders.eyes.arizona.edu]

[citation needed] Treatment[edit] Eye surgery has been documented to help those with ocular diseases, such as some forms of glaucoma.[2] Prognosis[edit] However, long term medical management of glaucoma has not proven to be successful for patients with [en.wikipedia.org]

Prognosis Weill-Marchesani syndrome has a good prognosis with early detection and timely management. Conclusion Weill-Marchesani syndrome is a rare genetic condition that involves ocular and systemic abnormalities. [eyewiki.aao.org]

ETIOLOGY Extracellular matrix proteins important in the development of the lens, skin, and heart are dysfunctional. [entokey.com]

Etiology Both autosomal recessive (AR) and autosomal dominant (AD) modes of inheritance have been described. The AR mode of inheritance appears to be more frequent and homozygous mutations within the ADAMTS10 gene (19p13.3-p13.2) have been found. [orpha.net]

As ectopia lentis may be the first sign of a more serious systemic disease, it is important to determine the etiology for appropriate patient management. [eyewiki.aao.org]

The etiology of this syndrome is associated with genetic mutations. [thepajo.org]

It is probably an inherited disease of unknown etiology manifesting itself in organs of mesodermal origin. [link.springer.com]

Patient Epidemiology Analysis Weill-Marchesani syndrome market also provides you with detailed market analysis for patient analysis, prognosis and cures. [databridgemarketresearch.com]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

– Intraocular abnormalities include microspherophakia, ectopia lentis, glaucoma, and lenticular myopia EPIDEMIOLOGY Prevalence • Not well documented – Listed as a “rare” disease by the Office of Rare Diseases (ORD) of the National Institutes of Health [entokey.com]

Summary Epidemiology The prevalence is not documented. Short stature (usually below the third percentile) and brachydactyly are present in 98% of patients. [orpha.net]

Epidemiology Weill-Marchesani syndrome is a rare disease in the general population. [eyewiki.aao.org]

GENERAL PREVENTION Genetic counseling to inform family planning PATHOPHYSIOLOGY • Mesodermal dysgenesis causes extremely long and loose zonules, which give rise to lens-related complications (3)[C] including the following: – Lenticular myopia from a globular [entokey.com]

Pathophysiology The pathogenesis is unknown, but the similarities with ☞Marfan Syndrome suggest that a disorder of the connective tissue may be responsible. [accessanesthesiology.mhmedical.com]

The prevalence is estimated to be 1 case in 100,000 in the population.[3] Pathophysiology Fibrillin, a glycoprotein, is implicated directly by defects in the FBN1 gene. [eyewiki.aao.org]

Managment includes Laser peripheral iridectomy in all cases to prevent pupillary block glaucoma and Miotics are recommended to prevent anterior dislocation of lens. Image courtesy: mrcophth.com [simplyeye.net]

Complete lack of zonular support prevented an attempt to leave the peripheral capsule in place, and a large core vitrectomy was performed. On the next day, the IOP was 14 mm Hg, the anterior chamber was deep, and the IOL was well centered. [healio.com]

Antibioprophylaxis given as needed to prevent endocarditis as indicated. Medications for glaucoma include the organophosphates such as echothiophate and isofluorphate. [accessanesthesiology.mhmedical.com]

GENERAL PREVENTION Genetic counseling to inform family planning PATHOPHYSIOLOGY • Mesodermal dysgenesis causes extremely long and loose zonules, which give rise to lens-related complications (3)[C] including the following: – Lenticular myopia from a globular [entokey.com]

As she was a monocular patient, we tried to lower the IOP immediately to prevent further damage to the optic nerve and preserve her remaining vision. [bmcophthalmol.biomedcentral.com]