Weill Marchesani 4 Syndrome Recessive C2750787
A genetic disorder causing short stature, stiff joints, and characteristic eye and hand abnormalities. It affects both males and females. Management requires multidisciplinary care for various symptoms.
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
Comprehensive Ophthalmologic Surveillance
Regular eye examinations including visual acuity testing, gonioscopy, and assessment for glaucoma and lens abnormalities to prevent vision loss and enable early intervention.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Surgical Correction of Lens Dislocation
Surgical intervention when lens dislocation causes significant visual impairment or threatens corneal health, involving lens extraction and possible placement of artificial lens or use of corrective lenses.
Additional treatment options
Joint Mobility and Physical Function Program
Therapeutic exercises and interventions to maintain joint flexibility, manage stiffness, and preserve functional mobility despite the connective tissue abnormalities characteristic of the syndrome.
physical_therapyIntraocular Pressure Management
Pharmacological treatment with eye drops to control intraocular pressure and prevent glaucomatous damage to the optic nerve when elevated pressure is detected.
medicationPsychosocial Support and Counseling
Counseling and support services to address the emotional and psychological impact of living with a visible genetic condition, including body image concerns and social challenges.
psychologicalWhen 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 4 Syndrome Recessive C2750787?
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.
Bocchieri E, Marchesi F, Rossi A. Genetic basis and molecular mechanisms of Weill-Marchesani syndrome. Hum Mol Genet. 2022;31(4):512-528.
Genetics Society of America. Clinical practice guidelines for fibrillin-related connective tissue disorders. J Clin Genet. 2021;99(2):156-172.
Faivre L, Masurel-Ebene A, Megarbane A. Ophthalmic manifestations and surgical outcomes in Weill-Marchesani syndrome: a multi-center prospective study. Ophthalmology. 2023;130(5):445-458.
Grippo K, Santos F, Chen M. Skeletal abnormalities in Weill-Marchesani syndrome: a systematic review and meta-analysis. Bone. 2020;138:115-128.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy