Weill–Marchesani syndrome (WMS), a rare connective tissue disorder, was first described by Weill in 1932 and further delineated by Marchesani in 1939 (Weill 1932; Marchesani 1939). It is also known as spherophakia-brachymorphia syndrome or congenital mesodermal dysmorphodystrophy.
Synonyms and Related Disorders
Congenital mesodermal dysmorphodystrophy; Glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome; Spherophakia-brachymorphia syndrome
Genetics/Basic Defects
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Despite clinical homogeneity, two modes of inheritance have been reported.
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Autosomal dominant inheritance
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Caused by heterozygous mutations within the fibrillin-1 gene which is mapped to chromosome 15q21.1
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Autosomal dominant WMS and Marfan syndrome appear to be allelic conditions at the fibrillin-1 locus.
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Autosomal recessive inheritance with occasional brachymorphism in heterozygotes
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Homozygosity mapping of an autosomal recessive WMS gene to chromosome 19p13.3–p13.2
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References
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(2012). Weill–Marchesani Syndrome. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_245
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