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Weill-Marchesani Syndrome

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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 12/01/2013 - "Mutations in FBN1, ADAMTS10, or ADAMTS17 cause Weill-Marchesani syndrome by disrupting the microfibrillar environment, while geleophysic dysplasia is associated with enhanced TGF-β signaling mediated through mutations in FBN1 or ADAMTSL2. " 12/01/2013 - "Similarity of geleophysic dysplasia and Weill-Marchesani syndrome." 12/01/2013 - "The criteria for diagnosing and distinguishing between Weill-Marchesani syndrome (WMS) and geleophysic dysplasia (GD) are inexact and often overlap. " 12/01/2013 - "More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia." 12/01/2013 - "Weill-Marchesani syndrome, on the basis of microspherophakia and ectopia lentis; geleophysic dysplasia by progressive cardiac valvular thickening, tracheal stenosis, and/or bronchopulmonary insufficiency, often leading to early death. "
2.	fibrillinIBA 05/13/2011 - "Conversely, fibroblasts obtained from a Weill-Marchesani syndrome patient with ADAMTS10 mutations deposited fibrillin-1 microfibrils sparsely compared with unaffected control cells. " 05/13/2011 - "Autosomal recessive and autosomal dominant forms of Weill-Marchesani syndrome, an inherited connective tissue disorder, are caused by mutations in ADAMTS10 (encoding a secreted metalloprotease) and FBN1 (encoding fibrillin-1, which forms tissue microfibrils), respectively, yet they are clinically indistinguishable. " 01/01/2003 - "In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome." 10/02/1996 - "Linkage analysis in these 2 families suggests a gene for Weill-Marchesani syndrome maps to 15q21.1. The dislocated lenses and connective tissue disorder in these families suggests that fibrillin-1 and microfibril-associated protein 1, which both map to 15q21.1, are candidate genes for Weill-Marchesani syndrome. " 09/01/2015 - "Today we know that mutations in fibrillin-1 cause the Marfan syndrome as well as Weill-Marchesani syndrome (and other acromelic dysplasias) and result in opposite clinical phenotypes: tall or short stature; arachnodactyly or brachydactyly; joint hypermobility or stiff joints; hypomuscularity or hypermuscularity. "
3.	Acromicric dysplasiaIBA 12/01/2013 - "Three disorders are ascribed to this group, namely Weill-Marchesani syndrome, geleophysic dysplasia, and acromicric dysplasia, although similar in phenotype, can be distinguished clinically. " 03/01/2009 - "The acromelic dysplasia group includes three rare disorders: Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and Acromicric dysplasia (AD) all characterized by short stature, short hands and stiff joints. " 10/01/2014 - "Geleophysic dysplasia (GD), acromicric dysplasia (AD) and Weill-Marchesani syndrome (WMS) are rare disorders with overlapping characteristics, such as short stature, short hands and feet, joint limitations, skin thickening, mild facial anomalies, normal intelligence and abnormal skeletal symptoms, with GD distinct by progressive cardiac valvular thickening and WMS distinct by microspherophakia and ectopia lentis. " 09/01/2013 - "Mutations in FBN1 cause a range of overlapping but distinct conditions including Marfan syndrome (MFS), Weill-Marchesani syndrome (WMS), familial thoracic aortic aneurysms/dissections (FTAAD), acromicric dysplasia (AD), and geleophysic dysplasia (GD). " 08/15/2012 - "Four disorders can now be ascribed to this group, namely Weill-Marchesani syndrome (WMS), geleophysic dysplasia (GD), acromicric dysplasia (AD), and Myhre syndrome (MS). "
4.	Familial ectopia lentisIBA 08/01/2012 - "Various factors prompted considering LTBP2 in the etiology of isolated ectopia lentis and associated conditions such as Weill-Marchesani syndrome (WMS) and Marfan syndrome (MFS). " 10/01/2011 - "Infrequently, FBN1 mutations cause dominantly inherited Weill-Marchesani syndrome (WMS), isolated ectopia lentis (IEL), or the fibrotic condition, geleophysic dysplasia (GD). " 09/01/2015 - "Whereas two such disorders, Weill-Marchesani syndrome 1 and Weill-Marchesani-like syndrome involve proteases (ADAMTS10 and ADAMTS17, respectively), geleophysic dysplasia and isolated ectopia lentis in humans involve ADAMTSL2 and ADAMTSL4, respectively, which are not proteases. "
5.	Proteins (Proteins, Gene)IBA 01/01/2005 - "ADAMTS proteins have recently gained attention with the discovery of their role in a variety of diseases, including tissue and blood disorders, cancer, osteoarthritis, Alzheimer's and the genetic syndromes Weill-Marchesani syndrome (ADAMTS10), thrombotic thrombocytopenic purpura (ADAMTS13), and Ehlers-Danlos syndrome type VIIC (ADAMTS2) in humans and belted white-spotting mutation in mice (ADAMTS20). " 09/01/2015 - "In addition to broadly similar dysmorphology, individuals affected by Weill-Marchesani syndrome 1, Weill-Marchesani-like syndrome or geleophysic dysplasia each show characteristic anomalies suggesting molecule-, tissue-, or context-specific functions for the respective ADAMTS proteins. "
6.	Peptide Hydrolases (Proteases)IBA 02/01/2006 - "ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) proteinases have been implicated in a number of connective tissue pathologies including Ehlers-Danlos syndrome type VII C, Weill-Marchesani syndrome, encephalomyelitis, and arthritis. " 09/01/2015 - "Whereas two such disorders, Weill-Marchesani syndrome 1 and Weill-Marchesani-like syndrome involve proteases (ADAMTS10 and ADAMTS17, respectively), geleophysic dysplasia and isolated ectopia lentis in humans involve ADAMTSL2 and ADAMTSL4, respectively, which are not proteases. "
7.	Sulfite oxidase deficiencyIBA 02/01/1998 - "Only in 69% of the cases (274/396) was a nosologic classification possible, based on preexisting information about familial occurrence, systemic and ocular findings: Marfan syndrome was found in 68.2% of these (187/274), ectopia lentis et pupillae in 21.2%, simple dominant ectopia lentis in 8.0%, homocystinuria in 1.1%, sulfite oxidase deficiency and Weill-Marchesani syndrome in 0.7% each. " 09/01/2013 - "Gene mutations have been identified for lens subluxation associated with Marfan syndrome, Weill Marchesani syndrome, Ectopia Lentis simplex, Ectopia Lentis et pupillae, Ehlers Danlos syndrome, homocystinuria, and sulfite oxidase deficiency. "
8.	Sulfite OxidaseIBA 09/01/1997 - "three patients with homocystinuria, two patients with Weill-Marchesani syndrome, and another 2 patients with sulphite oxidase deficiency. "
9.	Protein Sorting Signals (Signal Peptide)IBA 12/01/2008 - "Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme."
10.	ThrombospondinsIBA 02/01/2006 - "ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) proteinases have been implicated in a number of connective tissue pathologies including Ehlers-Danlos syndrome type VII C, Weill-Marchesani syndrome, encephalomyelitis, and arthritis. "

Therapies and Procedures

1.	Phakic Intraocular Lenses 04/01/2006 - "This study was designed to report the long-term complications of iris-claw phakic intraocular lens implantation in a patient with Weill-Marchesani syndrome. " 04/01/2006 - "Long-term complications of iris-claw phakic intraocular lens implantation in Weill-Marchesani syndrome."
2.	Lenses 11/01/2004 - "Weill-Marchesani syndrome (WMS) is characterized by the association of short stature; brachydactyly; joint stiffness; eye anomalies, including microspherophakia and ectopia of the lenses; and, occasionally, heart defects. " 01/01/2003 - "Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterised by short stature, brachydactyly, joint stiffness, and characteristic eye anomalies including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma. " 10/02/1996 - "Linkage analysis in these 2 families suggests a gene for Weill-Marchesani syndrome maps to 15q21.1. The dislocated lenses and connective tissue disorder in these families suggests that fibrillin-1 and microfibril-associated protein 1, which both map to 15q21.1, are candidate genes for Weill-Marchesani syndrome. "
3.	Airway Management 05/01/2003 - "Airway management of a patient with Weill-Marchesani syndrome."
4.	Phacoemulsification 09/01/2003 - "Ninety eyes of 57 patients with congenital loss of zonular support (Weill-Marchesani syndrome, idiopathic ectopia lentis, and Marfan's syndrome) had phacoemulsification with PC IOL and MCTR implantation. "
5.	Vitrectomy 09/01/2004 - "Two children with Weill-Marchesani syndrome (4 eyes) undergoing lensectomy, anterior vitrectomy, and sutured intraocular lens (IOL) and Molteno tube shunt surgery at Wills Eye Hospital were prospectively studied. " 09/01/2004 - "Advanced chronic angle closure glaucoma in Weill-Marchesani syndrome may be treated with a combination of lensectomy, anterior vitrectomy, and sutured IOL and Molteno tube shunt surgery. "