Marchesani syndrome (weill-marchesani syndrome; inverted marfan syndrome; brachymorphy with spherophakia; dystrophia mesodermalis congenita hyperplastica)

General: Pattern of inheritance uncertain; manifest at age 9 months to 13 years.

Ocular: Lenticular myopia; secondary glaucoma (rare), caused by luxation of the lens; iridodonesis; ectopia lentis; spherophakia; optic atrophy; megalocornea; corneal opacity; acute pupillary block glaucoma ..

Clinical: Brachydactyly; reduced growth; athletic build with abundant subcutaneous tissue; short neck and large thorax; short and clumsy hands and feet; decreased joint flexibility; hearing defects; inheritable connective tissue disorder, usually inherited as an autosomal recessive.

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Jensen AD, et al. Ocular complications in the Weill-Marchesani syndrome. Am J Ophthalmol 1974; 77:261.

Marchesani O. Brachydactylie und Angeborene Kugellinse als Systemerkrankung. Klin Monatsbl Augenheilkd 1939; 103:392.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Willi M, et al. Pupillary-block glaucoma in the Marchesani syndrome. Arch Ophthalmol 1973; 90:504.

Young ID, et al. Weill-Marchesani syndrome in mother and son. Clin Genet 1986; 30:475-480.