Abstract Objective: To describe the presenting features of Weill-Marchesani syndrome Case: A 22-year-old man presented with high myopia and progressive visual disturbance. He was of short stature and had brachydactyly. [nepjol.info]

Both patients presented with increasing myopia and advanced glaucomatous damage. Laser iridotomy was ineffective in deepening the anterior chamber. The first patient developed a flat anterior chamber after trabeculectomy. [ncbi.nlm.nih.gov]

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]

We present two families each with affected individuals in 3 generations demonstrating autosomal dominant inheritance of Weill-Marchesani syndrome. Linkage analysis in these 2 families suggests a gene for Weill-Marchesani syndrome maps to 15q21.1. [ohsu.pure.elsevier.com]

Results Presenile vitreous liquefaction was present in all the younger cases. Weill-Marchesani syndrome was full-blown in two cases in the third generation, in which asymmetrical axial length and glaucomatous damage were present. [nature.com]

• Regurgitation

  Echocardiography showed a mitral valve velocity of 0.7 m/s (2 mmHg), grade I mitral regurgitation and moderate tricuspid valve regurgitation. His mitral valve annulus diameter was 16 mm. [academic.oup.com]

  Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation. Indian J Anaesth [serial online] 2011 [cited 2019 May 13];55:428-30. [ijaweb.org]

  Cardiovascular manifestations include dilatation of the aorta at the level of the sinuses of Valsalva, a predisposition for aortic tear and rupture, mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the [ncbi.nlm.nih.gov]

• Flushing

  Other features that may occur include seizures, psychiatric problems, and extrapyramidal signs including dystonia, hypopigmentation, pancreatitis, malar flush, and livedo reticularis. [ncbi.nlm.nih.gov]

• Skeletal Dysplasia

  dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3 Other Tauopathy Cavernous venous malformation Membrane [ipfs.io]

  dysplasia MVRCS association Nail-patella syndrome Nance-Horan syndrome Neu-Laxova syndrome Neurocutaneous syndrome Nodular embryo Noonan syndrome Noonan's syndrome Oculo-cerebro-cutaneous syndrome Oculodentodigital syndrome Oculodento-osseous dysplasia [icd9data.com]

• Unable to Make a Fist

  She had joint stiffness at the elbows with reduced motility (supination 23 ) and was unable to make a fist with both hands. [ncbi.nlm.nih.gov]

• Lordosis

  Upon examination at age 19 years, the patient presented with short stature (140 cm), muscular build, scoliosis, and an accentuated lumbar lordosis. She was highly myopic ( 13.5 dpt OD and 16 dpt OS). [ncbi.nlm.nih.gov]

• 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]

• Opisthotonus

  Sulfite oxidase deficiency is a rare disorder of lens luxation with severe neurologic symptoms: untreatable seizures, opisthotonus, attenuated growth of the brain, and intellectual disability. [ncbi.nlm.nih.gov]

• Methionine Increased

  The cardinal biochemical features of homocystinuria are markedly increased concentrations of plasma homocystine, total homocysteine, and methionine; increased concentration of urine homocystine; and reduced cystathionineβ-synthase (CBS) enzyme activity [ncbi.nlm.nih.gov]

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]

To describe the surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome. [ncbi.nlm.nih.gov]

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

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [resourcerepository.org]

Treatment and Prognosis Eye surgery has been documented to help those with ocular diseases, such as some forms of glaucoma. [1] However, long term medical management of glaucoma has not proven to be successful for patients with Weill-Marchesani syndrome [wikidoc.org]

Treatment and prognosis Eye surgery has been documented to help those with ocular diseases, such as some forms of glaucoma. [2] However, long term medical management of glaucoma has not proven to be successful for patients with Weill–Marchesani syndrome [ipfs.io]

Individuals should be counseled on the risk of ocular complications with contact sports.[3] Prognosis Weill-Marchesani syndrome has a good prognosis with early detection. [eyewiki.aao.org]

[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]

The prognosis is influenced by the type and localization of the protein. The family history is inconspicuous in about 25% of established cases of MFS1. These are new mutations. [aerzteblatt.de]

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]

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

Lester CW : The etiology and pathogenesis of funnel chest, pigeon breast and related deformities of the anterior chest wall, J. Thoracic Surg. 34: 1, 1957. Google Scholar 33. [acpjournals.org]

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

The prevalence is estimated to be 1 case in 100,000 in the population.[3] Pathophysiology Decreased visual acuity results from increased refractive power of the hyper-spherical lens. This spherical change results in myopia. [eyewiki.aao.org]

Pathophysiology of zonular diseases. Curr Opin Ophthalmol. 2008;19(1):27–30. doi:10.1097/ICU.0b013e3282f29f01 5. Faivre L, Gorlin RJ, Wirtz MK, et al. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. [dovepress.com]

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]

Brachydactyly and stiff joints prevent patients from making a tight fist. A few patients (13%) have some mild mental deficit but most have normal intelligence. [disorders.eyes.arizona.edu]

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]

Prevention of secondary complications: Airway management during anesthesia can be difficult because of stiff joints, poorly aligned teeth, and maxillary hypoplasia. [ncbi.nlm.nih.gov]