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.

Joint stiffness

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.


合計: 3

                       


（表示件数）
PMID (PMCID)
22486325
 MIXED_SAMPLE Young Adult
Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation.
Khan AO, Aldahmesh MA, Al-Ghadeer H, Mohamed JY, Alkuraya FS.
Ophthalmic Genet. 2012;33(4):235-9.
Weill-Marchesani syndrome is characterized by spherophakia, short stature, short hands/feet, joint stiffness, and occasional cardiac abnormalities.
12648208
 MALE Adult
Anesthetic management of a patient with Weill-Marchesani syndrome.
Dal D, Sahin A, Aypar U.
Acta Anaesthesiol Scand. 2003;47(3):369-70.
Weill-Marchesani syndrome is characterized by short stature, brachydactylyl, myopia, microspherophakia, lens dislocation, glaucoma, joint stiffness, restricted articular movements and facial features.
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.