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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.
 
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]
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.

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

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.

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

Professional guidelines

PubMed

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
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
Ritch R, Wand M
Ann Ophthalmol 1981 Jun;13(6):665-7. PMID: 6455083

Recent clinical studies

Therapy

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
Burakgazi AZ, Ozbek Z, Rapuano CJ, Rhee DJ
Cornea 2006 Apr;25(3):361-3. doi: 10.1097/01.ico.0000178724.04070.ce. PMID: 16633042
Jones GC
Curr Pharm Biotechnol 2006 Feb;7(1):25-31. doi: 10.2174/138920106775789656. PMID: 16472131
Ritch R, Wand M
Ann Ophthalmol 1981 Jun;13(6):665-7. PMID: 6455083
Paton D, Murdoch JL
Birth Defects Orig Artic Ser 1971 Mar;7(3):174-7. PMID: 5173776

Prognosis

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
Farias FH, Johnson GS, Taylor JF, Giuliano E, Katz ML, Sanders DN, Schnabel RD, McKay SD, Khan S, Gharahkhani P, O'Leary CA, Pettitt L, Forman OP, Boursnell M, McLaughlin B, Ahonen S, Lohi H, Hernandez-Merino E, Gould DJ, Sargan DR, Mellersh C
Invest Ophthalmol Vis Sci 2010 Sep;51(9):4716-21. Epub 2010 Apr 7 doi: 10.1167/iovs.09-5142. PMID: 20375329
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
Burakgazi AZ, Ozbek Z, Rapuano CJ, Rhee DJ
Cornea 2006 Apr;25(3):361-3. doi: 10.1097/01.ico.0000178724.04070.ce. PMID: 16633042
Saricaoglu MS, Sengun A, Karakurt A, Colluoglu Z
Saudi Med J 2005 Sep;26(9):1468-9. PMID: 16155673

Clinical prediction guides

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
Wang LW, Kutz WE, Mead TJ, Beene LC, Singh S, Jenkins MW, Reinhardt DP, Apte SS
Matrix Biol 2019 Apr;77:117-128. Epub 2018 Sep 7 doi: 10.1016/j.matbio.2018.09.004. PMID: 30201140Free PMC Article
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
Farias FH, Johnson GS, Taylor JF, Giuliano E, Katz ML, Sanders DN, Schnabel RD, McKay SD, Khan S, Gharahkhani P, O'Leary CA, Pettitt L, Forman OP, Boursnell M, McLaughlin B, Ahonen S, Lohi H, Hernandez-Merino E, Gould DJ, Sargan DR, Mellersh C
Invest Ophthalmol Vis Sci 2010 Sep;51(9):4716-21. Epub 2010 Apr 7 doi: 10.1167/iovs.09-5142. PMID: 20375329
De Backer J
Verh K Acad Geneeskd Belg 2009;71(6):335-71. PMID: 20232788

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