Weill-Marchesani syndrome is an inheritedconnective 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.

• Short height, but arms, legs, body, and head size are all proportionate to height: Adult height for men ranges from 4 feet, 8 inches to 5 feet, 6 inches (or 142-169 cm) and adult height for women ranges from 4 feet, 3 inches to 5 feet, 2 inches (or 130-157 cm)
• Short fingers (brachdactyly)
• Joint stiffness
• Eye problems, which are typically recognized in childhood and include small spherical lens (microspherophakia), severe nearsightedness (myopia), abnormal position of the lens (ectopia lentis), and glaucoma, all of which can result in vision loss
• Heart problems, such as pulmonary valve stenosis or ductus arteriosus.

Usually people with Weill-Marchesani syndrome have normal intelligence.

ADAMTS10 gene. In some cases, it can be caused by changes in the either the FBN1 gene or the LTBP2 gene.

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.

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