What is Weill-Marchesani Syndrome: Causes, Symptoms, Treatment

Weill Marchesani Syndrome is an extremely rare genetic pathological condition of the connective tissues which is characterized as mainly ocular abnormalities with abnormalities of the lens along with an abnormally short stature, an extremely broad head, and joint stiffness.

The ocular abnormalities in an individual with Weill Marchesani Syndrome can include abnormal position of the lens, problems seeing objects close to the body because of an abnormal shape of the eye and the lens. It can also lead to many medical conditions which tend to damage the optic nerve and cause temporary or permanent blindness.

In some cases of Weill Marchesani Syndrome, there are certain cardiac defects seen in affected individuals as well. This condition follows both autosomal dominant and autosomal recessive pattern of inheritance meaning that a single copy of the defective gene from any parent or two copies of the defective gene from each parent is required for development of Weill Marchesani Syndrome.

The root cause of Weill Marchesani Syndrome is believed to be mutation of the ADAMTS10 gene. This causes the autosomal recessive form of Weill Marchesani Syndrome. Weill Marchesani Syndrome is found in parents who are direct or close relatives and hence carry the same abnormal gene thus making their children prone to have a medical condition like Weill Marchesani Syndrome.

The symptoms of Weill Marchesani Syndrome are quite variable and differ from individual to individual depending on the severity of the condition. The most common symptoms in all forms of Weill-Marchesani syndrome are abnormalities of the eyes with damage to the optic nerve and an abnormally broad head.

Affected individuals will also have an extremely short stature. Joint stiffness in multiple joints is also one of the characteristics features of Weill Marchesani Syndrome. The affected individuals will also have various craniofacial abnormalities to include an abnormally narrowed roof of the mouth, an underdeveloped jaw, and deformed or misaligned teeth.

Coming to certain other ocular abnormalities, some affected individuals with Weill Marchesani Syndrome will have partial or complete absence of certain fibers that hold the lens in position causing the lens to become malpositioned or dislocated. This will lead to blurry vision, diplopia, or abnormal movements of the colored regions of the eyes. Formation of cataracts at a very young age is also fairly common in people with Weill Marchesani Syndrome.

Additionally, the affected individual will also have glaucoma with increased intraocular pressure. All these abnormalities will partially or completely affect the vision of an individual with Weill Marchesani Syndrome.

To diagnose Weill Marchesani Syndrome, a thorough history taking will be done by the physician to determine if there are any other members in the family with these kinds of symptoms. The physician may also inquire as to whether the parents of the child affected with Weill Marchesani Syndrome were related in any way.

A detailed physical examination will then be conducted to look for characteristic features of Weill Marchesani Syndrome. Following an evaluation, specialized tests to include a genetic testing to determine mutation of the ADAMTS10 gene will be performed which if positive will confirm the diagnosis of Weill Marchesani Syndrome.

Additionally, many ocular tests may also be performed to look at the status of the eyes and to check the intraocular pressure which in cases of Weill Marchesani Syndrome will be very high.

Advanced radiological studies in the form of CT or MRI scans may be required to look for any musculoskeletal abnormalities associated with Weill Marchesani Syndrome.

There is no cure for Weill Marchesani Syndrome. The treatment is mainly supportive and symptomatic. The treatment of a child with Weill Marchesani Syndrome requires a multidisciplinary approach with physicians from various specialties like pediatricians, ophthalmologists, orthopedists, neurologists, neurosurgeons will come together to formulate a treatment plan best suited for the patient and making the life of the patient as comfortable and symptom free as possible.

Early diagnosis is extremely essential especially of ocular abnormalities to make sure that the damage done to the eyes is minimized. This may require in some cases surgery, corrective glasses, or other visual aids.

Additionally, treatments may be given to help decrease the intraocular pressure and glaucoma caused due to Weill Marchesani Syndrome through laser treatments, eyedrops, or even surgical removal of a part of the iris.

It is also highly recommended that the physician be informed of the diagnosis of the patient before any attempts at anesthetizing the patient is made for any surgery as the joint stiffness and other craniofacial abnormalities can affect the airways adversely and may complicate the case during the surgery for the individual with Weill Marchesani Syndrome.