[…] 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]

• Weakness

  The zonules that are attached to the lens to stabilize it are weak because fibrillin is a very important component of zonules and with abnormal fibrillin, the zonules are weak. [webeyeclinic.com]

  The patient demonstrated corneal astigmatism as well as mixed nuclear and posterior subcapsular cataracts which, in combination with zonular weakness, were consistent with her complaints of reduced visual function. [eyetube.net]

  Details included are company overview, company financials, revenue generated, market potential, investment in research and development, new market initiatives, global presence, production sites and facilities, company strengths and weaknesses, product [databridgemarketresearch.com]

  Fibrillin is also present in many connective tissues including blood vessels, lung, ligaments, and dermis.[5] Zonular weakness, due to impairment in extracellular matrix proteins and enzymes involved with the production of fibrillin, allows for a highly [eyewiki.aao.org]

• Pallor

  Fundus examination showed the presence of multiple bony spicules characteristic of RP with disc pallor in both eyes [Fig. 2a]. [journals.lww.com]

  Fundus examination showed the presence of multiple bony spicules characteristic of RP with disc pallor in both eyes [Figure - 2] a. [ijo.in]

  The cup-to-disc ratio had decreased markedly to 0.5 in the right eye with 2 plus pallor and 0.45 in the left eye. [healio.com]

• Fever

  A urinary tract infection, fever and dehydration complicated his recovery. He left the hospital with oxygen support 15 days after surgery. At control 9 months after the operation he was doing well without oxygen. [academic.oup.com]

• Jaundice

  Case Report A 9-year-old Saudi boy who had been born term, with appropriate birth weight (2.5 kg) following normal spontaneous delivery, had an unremarkable perinatal history except for neonatal jaundice due to G6PD deficiency that required several days [amjcaserep.com]

• 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]

• 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]

• Prolapse

  Mitral valve prolapse syndrome MVP Neonatal marfan Neonatal marfan syndrome Next Gen Sequencing Test SGS Shprintzen-Goldberg TAAD Weill-Marchesani syndrome WMS [mayomedicallaboratories.com]

  – Cardiac anomalies can be associated with this condition such as patent ductus arteriosus, mitral and aortic valve stenosis, prolonged QTc, and mitral valve prolapse. [entokey.com]

  الصفحة 66 - Freed LA, Levy D, Levine RA, et al: Prevalence and clinical outcome of mitral-valve prolapse. N Engl J Med 1999; 341(l):l-7. ‏ [books.google.com]

  Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). [hon.ch]

  Mitral valve prolapse may be a component of the familial mitral valve prolapse syndrome (OMIM 157700), but can also occur in the Ehlers-Danlos syndrome and in osteogenesis imperfecta. [aerzteblatt.de]

• 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]