Table of Contents
What causes Weill-Marchesani syndrome?
Mutations in the ADAMTS10 and FBN1 genes can cause Weill-Marchesani syndrome. The ADAMTS10 gene provides instructions for making a protein whose function is unknown. This protein is important for normal growth before and after birth, and it appears to be involved in the development of the eyes, heart, and skeleton.
What is WMS syndrome?
Weill Marchesani syndrome is a rare genetic disorder of connective tissue characterized by abnormalities of the lens of the eye, short stature, an unusually short, broad head (brachycephaly) and joint stiffness.
What is Spherophakia?
Spherophakia is a rare congenital bilateral eye disorder, which presents with weak zonules around a smaller and more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye.
Is Peters anomaly a disability?
Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip ) with or without an opening in the roof of the mouth (cleft palate ), distinctive facial features, and intellectual disability.
What is Weill-Marchesani syndrome (spherophakia-brachymorphia)?
. Weill-Marchesani syndrome, also known as Spherophakia-Brachymorphia syndrome, is an inherited connective tissue disorder characterized by abnormalities of the lens of the eye, secondary glaucoma, short stature, brachycephaly, joint stiffness, and cardiovascular defects.
What are the signs and symptoms of Weill Marchesani syndrome?
Connective tissue forms the body’s supportive framework, providing structure and strength to the muscles, joints, organs, and skin. The major signs and symptoms of Weill-Marchesani syndrome include short stature, eye abnormalities, unusually short fingers and toes (brachydactyly), and joint stiffness.
Is there a cure for Weill Marchesani syndrome?
Weill Marchesani syndrome is a rare genetic condition that involves ocular and systemic abnormalities. It is classified into 4 subtypes according to the affected genes. There is no cure for Weill Marchesani syndrome Management is focused on treating the symptoms currently.
How does Weill-Marchesani syndrome affect the eye?
Weill-Marchesani syndrome also causes problems with the lens of the eye that lead to severe nearsightedness, and it can also cause glaucoma. An eye lens problem called microspherophakia is characteristic of Weill-Marchesani syndrome.