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Weill-Marchesani syndrome

MedGen UID:
82705
•Concept ID:
C0265313
•
Disease or Syndrome
Synonyms: Mesodermal dysmorphodystrophy congenital; WM Syndrome
SNOMED CT: Spherophakia-brachymorphia syndrome (2884008); Weill-Marchesani syndrome (2884008); Brachydactyly-spherophakia syndrome (2884008); Marchesani's syndrome (2884008); Brachymorphy with spherophakia syndrome (2884008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Related genes: ADAMTS17, ADAMTS10, LTBP2, FBN1
 
Monarch Initiative: MONDO:0018096
OMIM® Phenotypic series: PS277600
Orphanet: ORPHA3449

Disease characteristics

Excerpted from the GeneReview: Weill-Marchesani Syndrome
Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Pauline Marzin  |  Valérie Cormier-Daire  |  Ekaterini Tsilou   view full author information

Additional description

From MedlinePlus Genetics
Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue forms the body's supportive framework, providing structure and strength to the muscles, joints, organs, and skin.

The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness. Adult height for men with Weill-Marchesani syndrome ranges from 4 feet, 8 inches to 5 feet, 6 inches. Adult height for women with this condition ranges from 4 feet, 3 inches to 5 feet, 2 inches.

Occasionally, heart defects or an abnormal heart rhythm can occur in people with Weill-Marchesani syndrome.

An eye abnormality called microspherophakia is characteristic of Weill-Marchesani syndrome. This term refers to a small, sphere-shaped lens, which is associated with nearsightedness (myopia) that worsens over time. The lens also may be positioned abnormally within the eye (ectopia lentis). Many people with Weill-Marchesani syndrome develop glaucoma, an eye disease that increases the pressure in the eye and can lead to blindness.  https://medlineplus.gov/genetics/condition/weill-marchesani-syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Weill-Marchesani syndrome in Orphanet.

Professional guidelines

PubMed

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
Marzin P, Rondeau S, Alessandri JL, Dieterich K, le Goff C, Mahaut C, Mercier S, Michot C, Moldovan O, Miolo G, Rossi M, Van-Gils J, Francannet C, Robert MP, Jaïs JP, Huber C, Cormier-Daire V
J Med Genet 2024 Jan 19;61(2):109-116. doi: 10.1136/jmg-2023-109288. PMID: 37734846
Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.
Guo D, Liu L, Yang F, Young CA, Zheng D, Jin G
Exp Eye Res 2023 Sep;234:109606. Epub 2023 Jul 26 doi: 10.1016/j.exer.2023.109606. PMID: 37506754
Treatment of the Weill-Marchesani syndrome.
Ritch R, Wand M
Ann Ophthalmol 1981 Jun;13(6):665-7. PMID: 6455083

Recent clinical studies

Etiology

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
Marzin P, Rondeau S, Alessandri JL, Dieterich K, le Goff C, Mahaut C, Mercier S, Michot C, Moldovan O, Miolo G, Rossi M, Van-Gils J, Francannet C, Robert MP, Jaïs JP, Huber C, Cormier-Daire V
J Med Genet 2024 Jan 19;61(2):109-116. doi: 10.1136/jmg-2023-109288. PMID: 37734846
Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome.
Newell K, Smith W, Ghoshhajra B, Isselbacher E, Lin A, Lindsay ME
Am J Med Genet A 2017 Sep;173(9):2551-2556. Epub 2017 Jul 11 doi: 10.1002/ajmg.a.38353. PMID: 28696036
Biometric and corneal topographic characteristics in patients with Weill-Marchesani syndrome.
Razeghinejad MR, Hosseini H, Namazi N
J Cataract Refract Surg 2009 Jun;35(6):1026-32. doi: 10.1016/j.jcrs.2009.01.029. PMID: 19465288
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V
Am J Med Genet A 2003 Dec 1;123A(2):204-7. doi: 10.1002/ajmg.a.20289. PMID: 14598350
The Weill-Marchesani syndrome: report of two cases and a review.
Haik GM Sr, Terrell WL 3rd, Haik GM Jr
J La State Med Soc 1990 Dec;142(12):25-8, 30-2. PMID: 2277226

Diagnosis

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
Marzin P, Rondeau S, Alessandri JL, Dieterich K, le Goff C, Mahaut C, Mercier S, Michot C, Moldovan O, Miolo G, Rossi M, Van-Gils J, Francannet C, Robert MP, Jaïs JP, Huber C, Cormier-Daire V
J Med Genet 2024 Jan 19;61(2):109-116. doi: 10.1136/jmg-2023-109288. PMID: 37734846
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
Am J Case Rep 2021 May 31;22:e930824. doi: 10.12659/AJCR.930824. PMID: 34057920Free PMC Article
Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review.
Guo H, Wu X, Cai K, Qiao Z
BMC Ophthalmol 2015 Jan 9;15:3. doi: 10.1186/1471-2415-15-3. PMID: 25571963Free PMC Article
Weill-Marchesani syndrome.
Wentzloff JN, Kaldawy RM, Chen TC
J Pediatr Ophthalmol Strabismus 2006 May-Jun;43(3):192. doi: 10.3928/01913913-20060301-17. PMID: 16761646
Weill-Marchesani syndrome.
Kulkarni ML, Venkataramana V, Sureshkumar C, Satishchandra
Indian Pediatr 1995 Aug;32(8):923-6. PMID: 8635842

Therapy

Fibrin Glue-Assisted Intraocular Lens Fixation in Weill-Marchesani Syndrome.
Kalamkar C, Radke NV, Mukherjee A, Radke SN
Middle East Afr J Ophthalmol 2019 Jan-Mar;26(1):33-36. doi: 10.4103/meajo.MEAJO_162_16. PMID: 31114122Free PMC Article
ADAMTS proteinases: potential therapeutic targets?
Jones GC
Curr Pharm Biotechnol 2006 Feb;7(1):25-31. doi: 10.2174/138920106775789656. PMID: 16472131
Weill-Marchesani syndrome with bilateral angle-closure glaucoma.
Wright KW, Chrousos GA
J Pediatr Ophthalmol Strabismus 1985 Jul-Aug;22(4):129-32. doi: 10.3928/0191-3913-19850701-04. PMID: 4032187
Treatment of the Weill-Marchesani syndrome.
Ritch R, Wand M
Ann Ophthalmol 1981 Jun;13(6):665-7. PMID: 6455083
Weill-Marchesani syndrome.
Paton D, Murdoch JL
Birth Defects Orig Artic Ser 1971 Mar;7(3):174-7. PMID: 5173776

Prognosis

Primary scleral-fixated posterior chamber intraocular lenses in patients with congenital lens subluxation.
Wang A, Fan Q, Jiang Y, Lu Y
BMC Ophthalmol 2021 Nov 29;21(1):411. doi: 10.1186/s12886-021-02182-0. PMID: 34844569Free PMC Article
Alternative splicing of the metalloprotease ADAMTS17 spacer regulates secretion and modulates autoproteolytic activity.
Balic Z, Misra S, Willard B, Reinhardt DP, Apte SS, Hubmacher D
FASEB J 2021 Feb;35(2):e21310. doi: 10.1096/fj.202001120RR. PMID: 33484187Free PMC Article
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.
Steinkellner H, Etzler J, Gogoll L, Neesen J, Stifter E, Brandau O, Laccone F
Eur J Hum Genet 2015 Sep;23(9):1186-91. Epub 2014 Dec 3 doi: 10.1038/ejhg.2014.264. PMID: 25469541Free PMC Article
A case of Weill-Marchesani syndrome with inversion of chromosome 15.
Chung JL, Kim SW, Kim JH, Kim TI, Lee HK, Kim EK
Korean J Ophthalmol 2007 Dec;21(4):255-60. doi: 10.3341/kjo.2007.21.4.255. PMID: 18063893Free PMC Article
Weill-Marchesani syndrome associated with retinitis pigmentosa.
Jethani J, Mishra A, Shetty S, Vijayalakshmi P
Indian J Ophthalmol 2007 Mar-Apr;55(2):142-3. doi: 10.4103/0301-4738.30711. PMID: 17322607

Clinical prediction guides

Alternative splicing of the metalloprotease ADAMTS17 spacer regulates secretion and modulates autoproteolytic activity.
Balic Z, Misra S, Willard B, Reinhardt DP, Apte SS, Hubmacher D
FASEB J 2021 Feb;35(2):e21310. doi: 10.1096/fj.202001120RR. PMID: 33484187Free PMC Article
A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family.
Yi H, Zha X, Zhu Y, Lv J, Hu S, Kong Y, Wu G, Yang Y, He Y
J Hum Genet 2019 Jul;64(7):681-687. Epub 2019 Apr 25 doi: 10.1038/s10038-019-0608-2. PMID: 31019231
Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.
Steinkellner H, Etzler J, Gogoll L, Neesen J, Stifter E, Brandau O, Laccone F
Eur J Hum Genet 2015 Sep;23(9):1186-91. Epub 2014 Dec 3 doi: 10.1038/ejhg.2014.264. PMID: 25469541Free PMC Article
From tall to short: the role of TGFβ signaling in growth and its disorders.
Le Goff C, Cormier-Daire V
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):145-53. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31337. PMID: 22791552
Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.
De Backer J
Verh K Acad Geneeskd Belg 2009;71(6):335-71. PMID: 20232788

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