Ocular System

Weill-Marchesani syndrome (WMS)

Weill-Marchesani syndrome, also known as microspherophakia-brachydactyly syndrome is a rare connective tissue disorder characterized by abnormalities of the lens of the eye, proportionate short stature, brachydactyly, and joint stiffness.

  • Both autosomal recessive & autosomal dominant inheritance

Clinical features

Ocular features:

Typically recognized in childhood
  • Microspherophakia (small spherical lens)
  • Myopia secondary to the abnormal shape of the lens
  • Ectopia lentis (abnormal position of the lens)
  • Glaucoma, which can lead to blindness

Extraocular features:

  • Proportionate short stature
  • Brachydactyly (short digits) and stiff joints
  • Heart abnormalities:
    • Patent ductus arteriosus
    • Pulmonary stenosis
Ocular and systemic abnormalities of a case of Weill-Marchesani syndrome: (A) The lens appeared small and spherical with a slight upward dislocation. (B) The suspensory ligaments are clearly seen under high magnification. (C) The lens was microspherophakic (arrows), with a diameter of approximately 9 mm and an anteroposterior diameter of approximately 8 mm when observed using anterior segment optical coherence tomography (OCT). (D, E) The patient presented with short fingers and toes. (F) The patient presented with a transparent cornea and normal depth of the anterior chamber after phacoemulsification and intraocular lens implantation. | Guo, H., Wu, X., Cai, K., & Qiao, Z. (2015). Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review. BMC ophthalmology, 15, 3.

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