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Weill-Marchesani syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Weill-Marchesani Syndrome

Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, eye abnormalities, and joint stiffness, caused by specific genetic mutations.

Overview

Weill-Marchesani syndrome is a disorder of connective tissue. 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: Adult height for men ranges from 4 feet, 8 inches to 5 feet, 6 inches. Adult height for women ranges from 4 feet, 3 inches to 5 feet, 2 inches.
  • Eye abnormalities
  • Brachydactyly: Unusually short fingers and toes.
  • Joint stiffness

An eye abnormality called microspherophakia is characteristic of Weill-Marchesani syndrome. This term refers to a small, sphere-shaped lens, which is associated with nearsightedness that worsens over time. The lens may also be positioned abnormally within the eye. Many people with Weill-Marchesani syndrome develop glaucoma, an eye disease that increases the pressure in the eye and can lead to blindness.

Occasionally, heart defects or an abnormal heart rhythm can occur in people with Weill-Marchesani syndrome.

Frequency

Weill-Marchesani syndrome appears to be rare; it has an estimated prevalence of 1 in 100,000 people.

Causes & Risk Factors

Mutations in the ADAMTS10 and FBN1 genes can cause Weill-Marchesani syndrome.

The ADAMTS10 Gene

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. Mutations in this gene disrupt the normal development of these structures, which leads to the specific features of Weill-Marchesani syndrome.

The FBN1 Gene

A mutation in the FBN1 gene has also been found to cause Weill-Marchesani syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. This protein is needed to form threadlike filaments, called microfibrils, that help provide strength and flexibility to connective tissue. The FBN1 mutation responsible for Weill-Marchesani syndrome leads to an unstable version of fibrillin-1. Researchers believe that the unstable protein interferes with the normal assembly of microfibrils, which weakens connective tissue and causes the abnormalities associated with Weill-Marchesani syndrome.

In some people with Weill-Marchesani syndrome, no mutations in ADAMTS10 or FBN1 have been found. Researchers are looking for other genetic changes that may be responsible for the disorder in these people.

Inheritance

Weill-Marchesani syndrome can be inherited in either an autosomal recessive or an autosomal dominant pattern.

  • Autosomal Recessive: When Weill-Marchesani syndrome is caused by mutations in the ADAMTS10 gene, it has an autosomal recessive pattern of inheritance. This means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
  • Autosomal Dominant: Other cases of Weill-Marchesani syndrome, including those caused by mutations in the FBN1 gene, have an autosomal dominant pattern of inheritance. This means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the genetic change from one parent with the condition.

Other Names for This Condition

  • Brachydactyly-spherophakia syndrome
  • Brachymorphy with spherophakia syndrome
  • Congenital mesodermal dysmorphodystrophy
  • Marchesani syndrome
  • Marchesani-Weill Syndrome
  • Spherophakia-brachymorphia syndrome
  • WMS

Frequently Asked Questions

The primary eye risk is microspherophakia, a small, spherical lens that can become unstable and dislocate, leading to acute glaucoma and potential blindness. Because lens subluxation can occur suddenly, patients require regular ophthalmologic evaluations, often every six to twelve months, to monitor intraocular pressure and lens position. Early detection of glaucoma is vital to preserve vision through medication or surgical intervention.
Most individuals can lead active lives, but high-impact activities or those involving sudden head movements should be approached with caution due to the risk of lens dislocation. Joint stiffness may limit range of motion, so physical therapy focused on gentle stretching and maintaining flexibility is often recommended. Patients should consult with their healthcare provider before starting new exercise regimens to ensure they do not exacerbate joint issues or pose a risk to eye stability.
Weill-Marchesani syndrome is usually inherited in an autosomal dominant pattern, meaning only one copy of the mutated gene is needed to cause the disorder. If a parent has the condition, there is a 50 percent chance of passing the mutation to each child. Genetic counseling is strongly recommended for families considering having children to discuss inheritance risks and available prenatal or preimplantation genetic testing options.
Diagnosis typically begins with a physical examination by a geneticist or ophthalmologist to identify characteristic features such as brachydactyly (short fingers), joint contractures, and microspherophakia. Definitive diagnosis is confirmed through genetic testing that identifies mutations in the ADAMTS10 or FBN1 genes. Ophthalmologic exams are critical because eye abnormalities like lens subluxation or glaucoma are often the most severe and earliest detectable signs.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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