Weill-Marchesani syndrome

What causes Weill-Marchesani syndrome?

Weill-Marchesani syndrome is usually caused by changes or mutations in the ADAMTS10 gene. In some cases, it can be caused by changes in the either the FBN1 gene or the _LTBP2 _gene.

Last updated on 05-01-20

How is Weill-Marchesani syndrome diagnosed?

The diagnosis of Weill-Marchesani syndrome is made by a doctor when a child has the characteristic signs and symptoms of the syndrome. Genetic testing can help confirm the diagnosis.

Last updated on 05-01-20

What is Weill-Marchesani syndrome?

Weill-Marchesani syndrome is an inherited connective tissue disorder that mainly affects the bones and eyes. 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. 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). Occasionally patients with this syndrome have heart defects. In some families this syndrome is inherited in an autosomal recessive pattern and caused by mutations in the ADAMTS10 _or LTBP2 genes. It can also have autosomal dominant inheritance, and in these cases is caused by a FBN1 _gene mutation. Treatments for Weill-Marchesani syndrome are symptomatic and supportive. People with this condition usually need regular eye exams and sometimes need eye surgery.

Last updated on 05-01-20

How might Weill-Marchesani syndrome be treated?

Although there is no cure for Weill-Marchesani syndrome, there are treatments that can help minimize or correct many of the symptoms that do develop. People with this syndrome often need a team of medical specialists, including pediatricians, eye specialists (ophthalmologists and optometrists), orthopedists, and cardiologists.

Regular eye exams are important for early diagnosis of eye problems. A timely diagnosis and treatment of developing eye problems is very important to increase the chance that vision loss can be minimized. Corrective glasses, visual aids, or eye surgery may be needed to improve vision. Removal of the microspherophakia is recommended to control intraocular pressure and improve vision. Increased pressure within the eye (glaucoma) may be treated with eye drops, laser therapy, surgical removal of the iris or lens. Contraction or dilation of the pupils can cause glaucoma in some people with Weill-Marchesani syndrome. Medications that contract the pupil must be avoided, and medications that dilate the pupils must be given with care.

Joint stiffness and bone abnormalities can cause complications if anesthesia is needed. A person with Weill-Marchesani syndrome needs to tell their doctor, surgeon, and anesthesiologist of the diagnosis before receiving anesthesia, as the syndrome can impact airway management.

Recommended evaluations when a child is first diagnosed with Weill-Marchesani syndrome include:

  • Complete eye exam by an ophthalmologist
  • Evaluation by a medical genetics specialist
  • Cardiac echocardiogram

Last updated on 05-01-20

Name: Glaucoma Research Foundation 251 Post Street, Suite 600
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Name: Children's Glaucoma Foundation 2 Longfellow Place Suite 201
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