Summary about Disease
Weill-Marchesani Syndrome (WMS) is a rare genetic disorder characterized primarily by short stature, brachydactyly (short fingers and toes), joint stiffness, and eye abnormalities, particularly microspherophakia (small, spherical lens). These lens abnormalities often lead to glaucoma and other vision problems. The syndrome affects connective tissue.
Symptoms
Short Stature: Significantly below average height.
Brachydactyly: Short, broad fingers and toes.
Joint Stiffness: Limited range of motion in joints.
Microspherophakia: Small, spherical lens in the eye.
Myopia: Nearsightedness.
Glaucoma: Increased pressure within the eye, potentially leading to vision loss.
Lens Subluxation/Ectopia Lentis: Displacement of the lens from its normal position.
Cardiovascular anomalies can be seen in rare cases.
Causes
WMS is primarily caused by mutations in genes involved in the structure and function of the extracellular matrix, particularly those related to connective tissue. The most common genes implicated are FBN1 and *ADAMTS10*. In some cases, the genetic cause remains unknown. It is typically inherited in an autosomal recessive pattern.
Medicine Used
There is no cure for WMS, so treatment focuses on managing specific symptoms and preventing complications.
Ophthalmological Treatment: Eye drops or surgery to manage glaucoma and correct lens displacement/subluxation.
Physical Therapy: To improve joint flexibility and range of motion.
Corrective Lenses: Glasses or contacts to correct vision problems.
Growth Hormone Therapy: May be considered in some cases to improve height, but efficacy is limited.
Pain Management: Medications for joint pain and discomfort.
Is Communicable
No. Weill-Marchesani Syndrome is a genetic disorder and is not communicable (infectious). It cannot be spread from person to person.
Precautions
Regular Ophthalmological Exams: Crucial to monitor and manage eye-related complications like glaucoma and lens displacement.
Genetic Counseling: Important for families with a history of WMS to understand the risk of recurrence.
Physical Therapy: Following a physical therapy regimen to maintain joint flexibility and prevent stiffness.
Early Intervention: Addressing developmental delays or learning difficulties as needed.
Cardiological Surveillance: Regular monitoring is advisable, especially if cardiovascular anomalies are suspected.
How long does an outbreak last?
This is not applicable to Weill-Marchesani Syndrome as it is not an infectious disease, and thus doesn't have outbreaks. The condition is lifelong.
How is it diagnosed?
Clinical Evaluation: Based on the presence of characteristic symptoms, such as short stature, brachydactyly, joint stiffness, and eye abnormalities.
Ophthalmological Examination: Examination by an ophthalmologist to assess lens size, shape, and position, and to screen for glaucoma.
Genetic Testing: Molecular genetic testing to identify mutations in genes associated with WMS, such as FBN1 and *ADAMTS10*.
Radiological Studies: X-rays of the hands and feet to assess bone structure and confirm brachydactyly.
Timeline of Symptoms
Early Childhood: Short stature and brachydactyly may become apparent.
Childhood/Adolescence: Eye problems like myopia, microspherophakia, and glaucoma may develop. Joint stiffness can worsen.
Throughout Life: Symptoms persist, requiring ongoing management and monitoring. The severity and progression of symptoms can vary between individuals.
Important Considerations
Multidisciplinary Care: Management requires a team of specialists, including ophthalmologists, geneticists, orthopedic surgeons, and physical therapists.
Prognosis: The prognosis varies depending on the severity of the symptoms and the effectiveness of treatment. Early diagnosis and management can help improve the quality of life.
Genetic Counseling: Important for family planning and understanding the risk of recurrence in future pregnancies.
Individual Variability: Symptoms and severity can vary significantly among individuals with WMS.
Research: Ongoing research aims to better understand the genetic basis of WMS and develop new treatment strategies.