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Weill-Marchesani Syndrome

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Synonyms

GEMSS syndrome; Glaucoma, ectopia, microspherophakia, stiff joints, short stature syndrome; microspherophakia (for dominant form)

Definition and Characteristics

A very rare congenital disorder presenting with skeletal anomalies as brachymorphy, brachycephaly, physically short (pyknic) stature with minor facial abnormalities, rounded face in stiff attitude, hypertelorism, depressed nasal bridge, osteoporosis, short and stubby hands, fingers, feet, and toes (brachydactyly; Fig. 1), restricted articular movements (hypoextendable joints or the fingers that cannot be fully made into fist) with joint prominence and stiffness especially in the hands, thickened skin, muscular build, and broad thorax [1].

Weill-Marchesani Syndrome. Figure 1
figure 1_1871

Short hands and stubby fingers in a 27-year old female patient with Weill-Marchesani syndrome.

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Weill-Marchesani Syndrome. Figure 1

References

  1. Evereklioglu C, Hepsen IF, Er H (1999) The Weill–Marchesani syndrome in three generations. Eye 13:773–777

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  2. Evereklioglu C, Turkoz Y, Calis M, Duygulu F, Karabulut AB (2004) Tumor necrosis factor α, lipid peroxidation and NO are increased and associated with decreased free-radical scavenging enzymes in patients with Weill–Marchesani syndrome. Mediators Inflamm 13:165–170

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  3. Wirtz MK, Samples JR, Kramer PL, Rust K, Yount J, Acott TS, Koler RD, Cisler J, Jahed A, Gorlin RJ, Godfrey M (1996) Weill–Marchesani syndrome – possible linkage of the autosomal dominant form to 15q21.1. Am J Med Genet 65:68–75

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  4. Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Megarbane A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V (2004) ADAMTS10 mutations in autosomal recessive Weill–Marchesani syndrome. Am J Hum Genet 75:801–806

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  5. Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V (2003) In frame fibrillin-1 gene deletion in autosomal dominant Weill–Marchesani syndrome. J Med Genet 40:34–36

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Evereklioglu, C. (2009). Weill-Marchesani Syndrome. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_1871

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