How rare is Weill-Marchesani syndrome?

Weill-Marchesani syndrome is classified as uncommon. The estimated prevalence is approximately 1-9 in 100,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Weill-Marchesani syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Weill-Marchesani syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from Weill-Marchesani syndrome?

Weill-Marchesani syndrome can lead to several complications, especially related to the eyes. People with this syndrome may experience severe myopia, which can affect their vision significantly. Additionally, glaucoma is a serious eye condition that can occur, potentially leading to vision loss if not managed properly.

How does Weill-Marchesani syndrome affect daily life?

Daily life for someone with Weill-Marchesani syndrome may be impacted by joint stiffness and short stature. These symptoms can make certain physical activities more challenging, and individuals may need to adapt their routines. It's important for families to find supportive ways to help manage these challenges.

What should families consider when planning for the future with Weill-Marchesani syndrome?

Families planning for the future with Weill-Marchesani syndrome should consider the potential for eye complications and how they may affect daily activities. It may also be helpful to discuss any concerns with healthcare providers who understand the condition. Planning for regular eye check-ups can be crucial for managing vision-related issues.

Are there any specialists recommended for managing Weill-Marchesani syndrome?

For managing Weill-Marchesani syndrome, it is often recommended to see specialists such as ophthalmologists for eye care and orthopedic doctors for joint issues. These specialists can provide tailored care and monitor any complications that may arise. Having a team of healthcare providers can help ensure comprehensive management of the condition.

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Weill-Marchesani syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Weill-Marchesani syndrome

MONDO:0018096

Also known as:Marchesani-Weill syndromecongenital mesodermal dystrophymesodermal Dysmorphodystrophy, congenital

Overview

Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

Weill-Marchesani syndrome (WMS) is a connective tissue disorder that usually presents in childhood with short stature and/or ocular problems. The autosomal recessive and autosomal dominant forms of WMS share clinical manifestations in the following systems . Eyes. The mean age of recognition of an ocular problem is 7.5 years. Microspherophakia (small spherical lens) is the most important manifestation of WMS. Microspherophakia results in lenticular myopia (i.e., myopia primarily resulting from abnormal shape of the lens), ectopia lentis (abnormal position of the lens), and glaucoma (elevation of the intraocular pressure).

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for Weill-Marchesani syndrome (WMS) have been published.

Suggestive Findings

WMS should be suspected in individuals with the following clinical and radiographic features.

Clinical features

Eye anomalies including microspherophakia and ectopia lentis

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Weill-Marchesani syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease in an individual diagnosed with Weill-Marchesani syndrome (WMS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 6. Recommended Evaluations Following Initial Diagnosis in Individuals with Weill-Marchesani Syndrome

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 8.

Recommended Surveillance for Individuals with Weill-Marchesani Syndrome

System/Concern | Evaluation | Frequency

Ophthalmology

| Ophthalmology exams for early detection removal of ectopic lens can help possibility of pupillary block glaucoma. | Annually

Growth

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Weill-Marchesani syndrome.

18 publications have been identified in PubMed for Weill-Marchesani syndrome. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (38%), and Gene Therapy / Novel Therapeutics (13%).

Research Type	Count	% of Total
Patient case studies	6	38%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3449

GARD

Genetic and Rare Diseases Info Center

GARD:4936

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Weill-Marchesani syndrome

Weill-Marchesani syndrome (WMS) is a rare condition that affects the body’s structure. People with this syndrome often have short stature and distinctive features in their hands and joints, such as brachydactyly (short fingers) and joint stiffness. In addition to these physical characteristics, WMS includes specific eye abnormalities. These eye issues may include a small lens (microspherophakia), displacement of the lens (ectopia of the lens), severe myopia (nearsightedness), and glaucoma. This overview provides a basic understanding of the condition and its most notable signs.

The common symptoms of Weill-Marchesani syndrome include short stature, brachydactyly, joint stiffness, and eye abnormalities such as microspherophakia, ectopia of the lens, severe myopia, and glaucoma.

Information about causes is currently limited for this condition. Associated genes include ADAMTS17, ADAMTS10, LTBP2, FBN1.

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Kisho

Weill-Marchesani syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Ophthalmology

Growth

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Establishing the Diagnosis

Differential Diagnosis

Ectopia Lentis

ADAMTSL4

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Joint stiffness

Recent Publications

Weill-Marchesani syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Ophthalmology

Growth

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Weill-Marchesani syndrome?

What are the symptoms of Weill-Marchesani syndrome?

What causes Weill-Marchesani syndrome?

How rare is Weill-Marchesani syndrome?

How is Weill-Marchesani syndrome diagnosed?

Are there treatments for Weill-Marchesani syndrome?

What complications can arise from Weill-Marchesani syndrome?

How does Weill-Marchesani syndrome affect daily life?

What should families consider when planning for the future with Weill-Marchesani syndrome?

Are there any specialists recommended for managing Weill-Marchesani syndrome?

Establishing the Diagnosis

Differential Diagnosis

Ectopia Lentis

ADAMTSL4

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Joint stiffness

Recent Publications