Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome

Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome (also known as Weill-Marchesani syndrome or WMS) is a rare connective tissue disorder that affects multiple body systems, most notably the eyes, skeleton, and joints. The condition is characterized by short stature, brachydactyly (short fingers), joint stiffness with limited range of motion, and distinctive eye abnormalities including microspherophakia (abnormally small and spherical lens), ectopia lentis (displacement of the lens), and glaucoma. The small, round lens can cause severe myopia (nearsightedness) and may block the flow of fluid within the eye, leading to acute or chronic glaucoma that can threaten vision if untreated. Affected individuals typically have a stocky, muscular build with proportionate short stature and may also exhibit thickened skin. Weill-Marchesani syndrome can be inherited in either an autosomal recessive or autosomal dominant pattern, depending on the causative gene. Autosomal recessive forms have been linked to mutations in the ADAMTS10 and LTBP2 genes, while autosomal dominant forms are associated with mutations in FBN1 (fibrillin-1). These genes are involved in the structure and regulation of extracellular matrix components and transforming growth factor-beta (TGF-β) signaling, which are critical for normal connective tissue development. Onset of clinical features is typically recognized in childhood, though some manifestations may be present from birth. There is no cure for Weill-Marchesani syndrome, and management is primarily supportive and symptom-directed. Ophthalmologic care is essential and may include medications to manage glaucoma (such as miotics or other intraocular pressure-lowering agents), corrective lenses for refractive errors, and surgical intervention for lens subluxation or glaucoma that does not respond to medical therapy. Regular monitoring by an ophthalmologist is critical to prevent vision loss. Orthopedic and physical therapy evaluations may help manage joint stiffness, and growth should be monitored throughout childhood.

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