Spherophakia Brachymorphia Syndrome

Important
It is possible that the main title of the record Weill Marchesani disorder is not the name you expected. Please inspect the words noting to discover the alternating name(s) and condition community(s) covered by this record.

Basic synonyms

• WMS
• congenital mesodermal dysmorphodystrophy
• mesodermal dysmorphodystrophy, genetic
• spherophakia-brachymorphia syndrome
• WM syndrome

Problem Class

• None

General Conversation
Weill Marchesani disorder is an unusual congenital disease of connective cells defined by irregularities of the lens of the eye, brief stature, an abnormally brief, broad head (brachycephaly) and also joint stiffness. The eye (ocular) abnormalities could include tiny round lenses (microspherophakia), uncommon location of the lens (ectopia lentis) nearsightedness (myopia) resulting from the unusual shape of the eye and also lens as well as eye disease that damages the optic nerve (glaucoma) that can lead to blindness. Heart defects exist in some affected people. Weill Marchesani syndrome adheres to autosomal recessive or autosomal dominant inheritance.