Weill-Marchesani syndrome

Weill-Marchesani syndrome is a rare genetic disorder that affects the connective tissue in the body. The major signs and symptoms of this condition include:

• Short stature [1]
• Eye abnormalities, such as progressive joint stiffness and mild intellectual disability [7]
• Unusually short fingers and toes (brachydactyly) [6][6]
• Joint stiffness and limited mobility [4]

People with Weill-Marchesani syndrome may also experience eye problems, including:

• Abnormalities of the lens of the eye, such as microspherophakia and subluxated lenses [8]
• High myopia (nearsightedness) [8]
• Glaucoma [8]

In addition to these physical symptoms, Weill-Marchesani syndrome can also affect cognitive function, with some individuals experiencing mild intellectual disability.

It's worth noting that the prognosis for Weill-Marchesani syndrome is variable and depends on the severity of the condition. With early detection and timely management, outcomes can be favorable [3]. However, the disorder is rare and affects a small number of people worldwide.

References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8

Weill-Marchesani syndrome (WMS) is a rare genetic disorder characterized by several distinct signs and symptoms.

Physical Characteristics

• Short stature [4]
• Brachydactyly, which refers to unusually short fingers and toes [2][5]
• Joint stiffness and limited mobility [2][5]

Eye Abnormalities

• Microspherophakia, a condition where the lens of the eye is abnormally small and spherical in shape [7]
• High myopia, but with normal axial length (AEL) [7]
• Lens hypermobility and ectopia lentis, which refer to an abnormal movement and displacement of the lens [7]
• Pupillary block, a condition where the pupil does not open properly [7]

Other Features

• Cardiovascular abnormalities have been reported in some cases [9]
• An unusually short, broad head (brachycephaly) and other facial features may be present [9]

It's worth noting that each individual with Weill-Marchesani syndrome may experience a unique combination of these signs and symptoms.

Weill-Marchesani syndrome (WMS) can be challenging to diagnose due to its rarity and lack of consensus clinical diagnostic criteria. However, various diagnostic tests can help identify the condition.

Genetic Testing Genetic analysis is a recommended diagnostic test for Weill-Marchesani syndrome. This test can provide a molecular diagnosis by identifying mutations in the ADAMTS2 gene, which is associated with WMS [10]. Genetic testing can be performed via serial single-gene testing, allowing for early diagnosis of the condition [3].

Ocular Examination Eye abnormalities are a common feature of Weill-Marchesani syndrome. An ocular examination may reveal small round lenses (microspherophakia), abnormal position of the lens (ectopia lentis), nearsightedness (myopia), and other eye-related issues [2]. A slit lamp exam, pachymetry, intraocular pressure measurement, and visual acuity assessment with correction can also be part of the ocular examination [8].

Other Diagnostic Tests In addition to genetic testing and ocular examination, other diagnostic tests may be performed to rule out or confirm WMS. These may include:

• Electron microscopy and immunological studies of skin fibroblasts from WMS patients
• Blood tests (e.g., whole blood, genomic DNA) to analyze the ADAMTS2 gene [7]

Diagnostic Criteria While there is no consensus clinical diagnostic criteria for Weill-Marchesani syndrome, a diagnosis can be made based on the presence of characteristic signs and symptoms, such as short stature, eye abnormalities, brachydactyly (unusually short fingers and toes), joint issues, and other features [5].

References

[1] Marzin P. (2020). Weill-Marchesani syndrome: A review of the literature. Cited by 25.

[2] Context result 2

[3] Context result 3

[4] Context result 4

[5] Context result 5

[6] Context result 6

[7] Context result 7

[8] Context result 8

[9] Context result 9

[10] Context result 10

Weill-Marchesani syndrome (WMS) is a rare genetic disorder that affects the connective tissue in various parts of the body, including the eyes, joints, and blood vessels.

Treatment Overview

While there is no cure for WMS, treatment focuses on managing its symptoms and complications. The primary goal of treatment is to prevent or alleviate visual and systemic manifestations of the condition.

• Early detection and removal of an ectopic lens: This can help decrease the possibility of pupillary block and glaucoma [3].
• Glaucoma management: Treatment of glaucoma in WMS patients can be challenging due to a paradoxic response to miotics and mydriatics. A combination of lensectomy, anterior vitrectomy, and other surgical interventions may be necessary [8].
• Physical therapy and orthopedic treatments: These are generally prescribed for problems stemming from mobility issues caused by the connective tissue disorder [7].

Medications

While specific medications for WMS are not mentioned in the search results, it is essential to note that arthritis treatment often involves a combination of medications, including:

• NSAIDs (Non-Steroidal Anti-Inflammatory Drugs): These can help relieve pain and reduce inflammation.
• Disease-modifying antirheumatic drugs (DMARDs): These can slow down disease progression and improve joint function.

However, it is crucial to consult a medical professional for personalized advice on managing WMS symptoms. They will be able to provide guidance on the most effective treatment options based on individual circumstances.

References:

[3] Treatment of manifestations: Early detection and removal of an ectopic lens to decrease the possibility of pupillary block and glaucoma. [7] Physical therapy and orthopedic treatments are generally prescribed for problems stemming from mobility from this connective tissue disorder. [8] Advanced chronic angle closure glaucoma in Weill–Marchesani syndrome may be treated with a combination of lensectomy, anterior vitrectomy, and other surgical interventions.

Weill-Marchesani syndrome (WMS) is a rare genetic disorder characterized by abnormalities in connective tissue, leading to various physical and eye-related symptoms. When diagnosing WMS, it's essential to consider differential diagnoses that can mimic or present similar symptoms.

According to medical literature [1], the following conditions should be considered in the differential diagnosis of Weill-Marchesani syndrome:

• Ectopia Lentis: A condition where the lens of the eye is displaced from its normal position.
• Homocystinuria: A genetic disorder that affects the metabolism of amino acids, leading to various physical and eye-related symptoms.
• Marfan syndrome: A genetic disorder that affects the connective tissue in various parts of the body, including the eyes.
• Sulfite oxidase deficiency: A rare genetic disorder that affects the metabolism of sulfur-containing compounds.
• Acromelic dysplasia: A group of rare genetic disorders characterized by abnormalities in the limbs and other physical features.

Additionally, Geleophysic dysplasia [2] is another condition that should be considered in the differential diagnosis of WMS. This rare genetic disorder affects the connective tissue in various parts of the body, leading to symptoms such as short stature, joint stiffness, and characteristic eye abnormalities.

It's worth noting that a comprehensive diagnostic evaluation, including clinical examination, imaging studies, and genetic testing, is necessary to accurately diagnose Weill-Marchesani syndrome [3].

References:

[1] - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6241159/ (Search result 5)

[2] - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6241159/ (Search result 2)

[3] - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6241159/ (Search result 4)