What causes Weill Marchesani syndrome?
When Weill-Marchesani syndrome is caused by mutations in the ADAMTS10 gene, it has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations.
What is Spherophakia?
Introduction. 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.
What is it called when you have long fingers?
Arachnodactyly is a condition in which the fingers are long, slender, and curved.
What is Nanophthalmos?
Nanophthalmos is a rare genetic disease, included in the spectrum of developmental eye disorders, characterized by a small eye secondary to compromised growth.
Why are my fingers abnormally long?
Longer arms in Marfan syndrome Marfan syndrome is a genetic disorder that causes people to have unusually long arms, legs and fingers.
What is Marshall’s syndrome?
Marshall syndrome is a rare autosomal dominant genetic disorder caused by mutations in the COL11A1 gene. Major symptoms may include a distinctive face with a flattened nasal bridge and nostrils that are tilted upward, widely spaced eyes, nearsightedness, cataracts and hearing loss.
What is Weill Marchesani 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 are the symptoms of Weill-Marchesani syndrome?
People with this syndrome are usually short in height and often have short fingers and limited joint movement, especially of the hands. Weill-Marchesani syndrome also causes problems with the lens of the eye that lead to severe nearsightedness, and it can also cause glaucoma.
What is Microspherophakia Weill Marchesani?
An eye lens problem called microspherophakia is characteristic of Weill-Marchesani syndrome. Microspherophakia refers to a small, sphere-shaped lens, which is associated with nearsightedness (myopia) that worsens over time. The lens also may be positioned abnormally within the eye (ectopia lentis).
What are the treatment options for Weill-Marchesani syndrome?
Specific therapies for Weill-Marchesani syndrome are symptomatic and supportive. Experts indicate that early diagnosis of ocular abnormalities may be important in helping to ensure optimal visual development. In some cases, corrective glasses, other visual aids, and/or surgery may be recommended to help improve vision.