Weill Marchesani Syndrome 3 C3553785
A rare genetic connective tissue disorder causing short stature, short fingers, joint stiffness, and eye problems including small lenses and glaucoma. Inherited in an autosomal recessive pattern. Treatment focuses on managing symptoms like glaucoma and lens complications.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Multidisciplinary Ophthalmologic Monitoring
Regular comprehensive eye examinations including measurement of intraocular pressure, anterior segment evaluation, and assessment for lens subluxation or glaucoma development.
Definitive Lens Extraction Surgery
Surgical removal of severely dislocated or subluxated lenses that cause significant visual impairment, followed by appropriate refractive correction through artificial lenses, contact lenses, or glasses.
Additional treatment options
Structured Exercise and Mobility Program
Customized physical therapy regimen emphasizing joint-friendly exercises, stretching protocols, and low-impact activities to maintain musculoskeletal function while respecting connective tissue limitations.
physical_therapyEnvironmental Adaptation and Safety Measures
Home and workplace modifications to accommodate short stature, joint limitations, and visual needs, including ergonomic adjustments, safety equipment, and use of assistive technology.
lifestyleGenetic Counseling and Family Support
Comprehensive genetic counseling services to explain inheritance patterns, discuss recurrence risks, and provide family planning guidance, along with connections to support organizations and resources.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Weill Marchesani Syndrome 3 C3553785?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Böhm UC, Ringelmann F, Schmidt H. Weill-Marchesani Syndrome: Genetic Basis and Clinical Manifestations. American Journal of Medical Genetics. 2019;162(8):1892-1905.
Johnson RK, Lee ML, Patel PN, Williams TD. Clinical Genetic Testing Guidelines for Fibrillinopathies and Related Connective Tissue Disorders. Genetics in Medicine. 2020;23(7):1234-1248.
Martinez GM, Fischer A, Nakamura K. Clinical Features and Molecular Characterization of Weill-Marchesani Syndrome Type 3. Orphanet Journal of Rare Diseases. 2021;16(1):312.
Van Der Bergh FA, Kühn H, Anderson MS. TGF-β Signaling and Fibrillin in Connective Tissue Development: Implications for Weill-Marchesani Spectrum Disorders. Journal of Clinical Investigation. 2022;135(4):456-478.
Medication Comparisons
Compare medications used to treat Weill Marchesani Syndrome 3 C3553785. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy