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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:
Congenital Mesodermal Dysmorphodystrophy; GEMSS; Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome; Marchesani Syndrome; Marchesani-Weill Syndrome; Spherophakia-Brachymorphia Syndrome; Weill-Marchesani Syndrome, Autosomal Dominant; Congenital Mesodermal Dysmorphodystrophies; Dysmorphodystrophies, Congenital Mesodermal; Dysmorphodystrophy, Congenital Mesodermal; Marchesani Weill Syndrome; Marchesani-Weill Syndromes; Mesodermal Dysmorphodystrophies, Congenital; Spherophakia Brachymorphia Syndromes; Syndrome, Spherophakia Brachymorphia; 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: 48 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Marfan Syndrome (Marfan's Syndrome)
2. Brachydactyly
3. Glaucoma
4. Microspherophakia
5. Angle-Closure Glaucoma (Glaucoma, Angle Closure)

Experts

1. Hubmacher, Dirk: 4 articles (01/2021 - 04/2014)
2. Apte, Suneel S: 4 articles (01/2019 - 12/2008)
3. Cain, Stuart A: 4 articles (11/2018 - 01/2012)
4. Kielty, Cay M: 4 articles (11/2018 - 01/2012)
5. Kutz, Wendy E: 3 articles (01/2019 - 12/2008)
6. Reinhardt, Dieter P: 3 articles (01/2019 - 04/2014)
7. Wang, Lauren W: 3 articles (01/2019 - 12/2008)
8. Sakai, Lynn Y: 3 articles (09/2015 - 05/2011)
9. Baldock, Clair: 2 articles (11/2018 - 01/2012)
10. Mularczyk, Ewa J: 2 articles (11/2018 - 10/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Weill-Marchesani Syndrome:
1. Fibrillin-1IBA
2. Metalloproteases (Metalloproteinases)IBA
3. FibrillinsIBA
4. Carrier Proteins (Binding Protein)IBA
5. ThrombospondinsIBA
6. DisintegrinsIBA
7. Proteins (Proteins, Gene)FDA Link
8. Peptide Hydrolases (Proteases)FDA Link
9. EnzymesIBA
10. Anesthetics (Anesthetic Agents)IBA

Therapies and Procedures

1. Operative Time
2. Phakic Intraocular Lenses
3. Lenses
4. Trabeculectomy (Trabeculoplasty)
5. Intraocular Lenses (Intraocular Lens)