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Weill-Marchesani syndrome 3(WMS3)

MedGen UID:
766699
Concept ID:
C3553785
Disease or Syndrome
Synonyms: LTBP2-Related Weill-Marchesani Syndrome; Weill-Marchesani syndrome 3, recessive; WMS3
 
Gene (location): LTBP2 (14q24.3)
 
Monarch Initiative: MONDO:0013899
OMIM®: 614819

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 OMIM
Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of WMS, see 277600.  http://www.omim.org/entry/614819

Clinical features

From HPO
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Aortic valve stenosis
MedGen UID:
1621
Concept ID:
C0003507
Pathologic Function
The presence of a stenosis (narrowing) of the aortic valve.
Pulmonic stenosis
MedGen UID:
408291
Concept ID:
C1956257
Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Joint stiffness
MedGen UID:
56403
Concept ID:
C0162298
Sign or Symptom
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Ectopia lentis
MedGen UID:
41704
Concept ID:
C0013581
Congenital Abnormality
Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.
Raised intraocular pressure
MedGen UID:
68606
Concept ID:
C0234708
Finding
Intraocular pressure that is 2 standard deviations above the population mean.
High myopia
MedGen UID:
78759
Concept ID:
C0271183
Disease or Syndrome
A severe form of myopia with greater than -6.00 diopters.
Shallow anterior chamber
MedGen UID:
602215
Concept ID:
C0423276
Finding
Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased.
Microspherophakia
MedGen UID:
288328
Concept ID:
C1562061
Congenital Abnormality
Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by Ben Yahia et al., 2009). Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS; 154700), and Weill-Marchesani syndrome (WMS; 277600).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Senthil S, Rao HL, Hoang NT, Jonnadula GB, Addepalli UK, Mandal AK, Garudadari CS
J Glaucoma 2014 Apr-May;23(4):262-7. doi: 10.1097/IJG.0b013e3182707437. PMID: 23059485
Cross HE
Birth Defects Orig Artic Ser 1976;12(3):335-46. PMID: 953198

Recent clinical studies

Etiology

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
Le Goff C, Cormier-Daire V
Pediatr Endocrinol Rev 2009 Mar;6(3):418-23. PMID: 19396027
Razeghinejad MR, Safavian H
Am J Ophthalmol 2006 Sep;142(3):507-8. doi: 10.1016/j.ajo.2006.03.050. PMID: 16935606
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
Ritch R, Chang BM, Liebmann JM
Ophthalmology 2003 Oct;110(10):1880-9. doi: 10.1016/S0161-6420(03)00563-3. PMID: 14522758

Diagnosis

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
Le Goff C, Cormier-Daire V
Pediatr Endocrinol Rev 2009 Mar;6(3):418-23. PMID: 19396027
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
Wentzloff JN, Kaldawy RM, Chen TC
J Pediatr Ophthalmol Strabismus 2006 May-Jun;43(3):192. doi: 10.3928/01913913-20060301-17. PMID: 16761646
Ritch R, Chang BM, Liebmann JM
Ophthalmology 2003 Oct;110(10):1880-9. doi: 10.1016/S0161-6420(03)00563-3. PMID: 14522758

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
Senthil S, Rao HL, Hoang NT, Jonnadula GB, Addepalli UK, Mandal AK, Garudadari CS
J Glaucoma 2014 Apr-May;23(4):262-7. doi: 10.1097/IJG.0b013e3182707437. PMID: 23059485
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
Cionni RJ, Osher RH, Marques DM, Marques FF, Snyder ME, Shapiro S
J Cataract Refract Surg 2003 Sep;29(9):1668-73. doi: 10.1016/s0886-3350(03)00238-4. PMID: 14522284
Paton D, Murdoch JL
Birth Defects Orig Artic Ser 1971 Mar;7(3):174-7. PMID: 5173776

Prognosis

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
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

Clinical prediction guides

Satana B, Altan C, Basarir B, Alkin Z, Yilmaz OF
Nepal J Ophthalmol 2015 Jan-Jun;7(1):85-9. doi: 10.3126/nepjoph.v7i1.13178. PMID: 26695613
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

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