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
