Primary clinical symptoms include short stature, ocular abnormalities, short fingers and toes, and joint stiffness. Microspherophakia (an ocular abnormality where ocular lenses are small and sphere-shaped, myopia presents gradually, and lenses may be malpositioned [ectopia lentis]) is characteristic. Most patients develop glaucoma. Rarely, an abnormal heart rhythm may occur.
WMS can be inherited in either the autosomal recessive or autosomal dominant pattern and is caused by mutations in the ADAMTS10 and FBN1 genes.
There is currently no cure. Treatment may require a multi-disciplinary approach and is directed toward the specific symptoms. Therapies are supportive and targeted toward improving quality of life. Genetic counseling may be suggested.
Q87.0 – Congenital malformation syndromes predominantly affecting facial appearance
2884008 – Weill-Marchesani syndrome