Weill-Marchesani syndrome

Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.

Brachydactyly

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.


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PMID (PMCID)
25571963
(4298062)
 FEMALE Adult
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;15:3.
Weill-Marchesani syndrome could be diagnosed by microspherophakia, high myopia, secondary glaucoma, and systemic abnormalities such as brachymorphia and brachydactyly.
25571963
(4298062)
 FEMALE Adult
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;15:3.
Weill-Marchesani syndrome was then diagnosed by ocular examinations, and was accompanied by systemic abnormalities, including brachymorphia and brachydactyly.
24940034
(4057248)
 MIXED_SAMPLE Adult
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.
Shah MH, Bhat V, Shetty JS, Kumar A.
Mol Vis. 2014;20:790-6.
Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder, characterized by short stature, microspherophakic lens, and stubby hands and feet (brachydactyly).
22864047
 MALE Young Adult
Weill- Marchesani syndrome: a rare case report.
Puri LR, Sharma H, Aryal S.
Nepal J Ophthalmol. 2012;4(2):336-8.
Weill-Marchesani syndrome can present wwith progressive myopia in a person of short stature and brachydactyly.
22569327
 FEMALE
Case report of two sisters suffering from Weill-Marchesani syndrome with pulmonary stenosis.
Mandal SK, Mondal SS, Mani S, Chatterjee S, Chatterjee K, Bhattacharya R, Pramanik AB.
Indian J Med Sci. 2010;64(3):140-3.
We report two sisters having a rare congenital anomaly-Weill-Marchesani syndrome having disproportionate short height, restriction of joint movements, brachydactyly, dislocation of lens, bilateral glaucomatous optic atrophy, and pulmonary stenosis.
12770659
 MALE Adult
Airway management of a patient with Weill-Marchesani syndrome.
Karabiyik L.
J Clin Anesth. 2003;15(3):214-6.
Weill-Marchesani syndrome is a genetically determined rare systemic connective tissue disorder consisting of brachymorphy, brachydactyly, aortic stenosis, and ophthalmologic abnormalities, such as ectopia lentis, microspherophakia, and secondary glaucoma.
9075633
 MALE Adult
Weill-Marchesani syndrome: report of an unusual case.
Giordano N, Senesi M, Battisti E, Mattii G, Gennari C.
Calcif Tissue Int. 1997;60(4):358-60.
We report a single case of Weill-Marchesani syndrome, typically characterized by progressive joint stiffness, brachiymorphy, brachydactyly, and ectopia lentis.
1420134
 MALE Adult
[Brachymorphy and cataract].
Damian C.
Oftalmologia. 1992;36(4):407-10.
It is discussed the presence of the pathological cataract as part of a mesodermal dysgenetic syndrome with brachymorphy and brachydactyly, different from the Weill-Marchesani syndrome.
2285689
 MIXED_SAMPLE Adult
Histology of the lens in the Weill-Marchesani syndrome.
Fujiwara H, Takigawa Y, Ueno S, Okuda K.
Br J Ophthalmol. 1990;74(10):631-4.
The Weill-Marchesani syndrome is a rare systemic connective tissue disease characterised by small stature, brachydactyly, ectopia lentis, and spherophakia.