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Weill-Marchesani Syndrome

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. Cardiovascular anomalies are occasionally seen.
Also Known As:
Marchesani-Weill Syndrome; Weill-Marchesani Syndrome, Autosomal Dominant; Brachymorphia Syndrome, Spherophakia; Congenital Mesodermal Dysmorphodystrophies; Congenital Mesodermal Dysmorphodystrophy; Dysmorphodystrophies, Congenital Mesodermal; Dysmorphodystrophy, Congenital Mesodermal; Marchesani Weill Syndrome; Marchesani-Weill Syndromes; Mesodermal Dysmorphodystrophies, Congenital; Spherophakia Brachymorphia Syndromes; Syndrome, Marchesani-Weill; Syndrome, Spherophakia Brachymorphia; Syndrome, Weill-Marchesani; Syndromes, Marchesani-Weill; Syndromes, Spherophakia Brachymorphia; Weill Marchesani Syndrome, Autosomal Dominant; Weill Marchesani Syndrome, Autosomal Recessive; Mesodermal Dysmorphodystrophy, Congenital; Spherophakia Brachymorphia Syndrome; Weill Marchesani Syndrome; Weill-Marchesani Syndrome, Autosomal Recessive
Networked: 36 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1. Marfan Syndrome (Marfan's Syndrome)
2. Ectopia Lentis
3. Homocystinuria
4. Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)
5. Angle-Closure Glaucoma (Glaucoma, Angle Closure)

Experts

1. Apte, Suneel S: 4 articles (09/2015 - 12/2008)
2. Hubmacher, Dirk: 3 articles (09/2015 - 05/2008)
3. Sakai, Lynn Y: 2 articles (09/2015 - 05/2011)
4. Elahi, Elahe: 2 articles (01/2015 - 08/2012)
5. Yazdani, Shahin: 2 articles (01/2015 - 08/2012)
6. Baldwin, Andrew K: 2 articles (01/2013 - 01/2012)
7. Kielty, Cay M: 2 articles (01/2013 - 01/2012)
8. Cain, Stuart A: 2 articles (01/2013 - 01/2012)
9. Le Goff, Carine: 2 articles (08/2012 - 03/2009)
10. Cormier-Daire, Valérie: 2 articles (08/2012 - 11/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Weill-Marchesani Syndrome:
1. Geleophysic dwarfismIBA
2. fibrillinIBA
3. Acromicric dysplasiaIBA
4. Familial ectopia lentisIBA
5. Proteins (Proteins, Gene)IBA
6. Peptide Hydrolases (Proteases)IBA
7. Sulfite oxidase deficiencyIBA
8. Sulfite OxidaseIBA
9. Protein Sorting Signals (Signal Peptide)IBA
10. ThrombospondinsIBA

Therapies and Procedures

1. Phakic Intraocular Lenses
2. Lenses
3. Airway Management
4. Phacoemulsification
5. Vitrectomy