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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.

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.

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

Etiology

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
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Diagnosis

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
Al Motawa MNA, Al Shehri MSS, Al Buali MJ, Al Agnam AAM
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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
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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
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Kumar A, Duvvari MR, Prabhakaran VC, Shetty JS, Murthy GJ, Blanton SH
Hum Genet 2010 Oct;128(4):365-71. Epub 2010 Jul 9 doi: 10.1007/s00439-010-0858-8. PMID: 20617341
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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
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
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
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
Kumar A, Duvvari MR, Prabhakaran VC, Shetty JS, Murthy GJ, Blanton SH
Hum Genet 2010 Oct;128(4):365-71. Epub 2010 Jul 9 doi: 10.1007/s00439-010-0858-8. PMID: 20617341

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