Van Maldergem Syndrome 2 C3809875
A rare genetic syndrome causing distinctive facial features and skeletal differences. It involves multiple body systems and requires multidisciplinary care for management.
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
Developmental physical therapy
Individualized exercise programs targeting motor delays, muscle tone abnormalities, and joint mobility limitations characteristic of the syndrome.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Early intervention programs
Comprehensive early childhood development services including speech, occupational, and developmental therapy to maximize functional potential.
Additional treatment options
Multidisciplinary developmental surveillance
Regular assessments across specialties including genetics, neurology, cardiology, and development to monitor growth and detect complications.
monitoringFamily genetic counseling
In-depth counseling about autosomal recessive inheritance, recurrence risks, carrier testing options, and family planning alternatives.
psychologicalOccupational therapy
Skills training for activities of daily living, fine motor development, and use of adaptive equipment to enhance independence.
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 Van Maldergem Syndrome 2 C3809875?
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.
E分子的a K, 随机 B. Van Maldergem syndrome: Clinical features and genetic basis. Orphanet J Rare Dis. 2022.
Martins C, Snyder J, Chen L. DVL1 and DVL3 mutations in Van Maldergem syndrome: Genotype-phenotype correlation. Am J Hum Genet. 2019.
Fabrizio G, Hoogenraad N. Recent advances in the diagnosis and management of rare genetic syndromes. Nat Rev Genet. 2021.
Willems P, Tanaka K, Patel N. International consensus guidelines for the care of patients with intellectual disability syndromes. J Intellect Disabil Res. 2023.
Medication Comparisons
Compare medications used to treat Van Maldergem Syndrome 2 C3809875. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy