Meier Gorlin Syndrome 6 C4225188
A rare genetic disorder of cell replication affecting multiple body systems. It causes small ears, absent kneecaps, and poor growth, with treatment aimed at managing specific 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
Endocrine Management
Comprehensive endocrine care including potential growth hormone therapy for short stature management in Meier-Gorlin Syndrome type 6, with individualized treatment protocols based on hormone testing.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Audiological and Auricular Surgery
Combined surgical approach addressing external ear abnormalities and potential middle ear reconstruction to improve hearing function. Staged procedures may be necessary.
Additional treatment options
Joint Mobility and Strength Program
Therapeutic exercise program focused on improving range of motion, muscle strength, and functional mobility, particularly addressing limitations from patellar abnormalities.
physical_therapyPsychosocial Support Services
Mental health support addressing body image concerns, social adjustment, and coping strategies for living with a rare genetic condition. Includes patient and family counseling.
psychologicalLong-term Follow-up Protocol
Structured lifelong surveillance program monitoring growth parameters, orthopedic status, hearing, dental development, and developmental milestones with coordinated specialist involvement.
monitoringWhen 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 Meier Gorlin Syndrome 6 C4225188?
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.
Bieenga JC, Veltman JA, Hoischen A. Meier-Gorlin syndrome: molecular mechanisms and clinical features. Orphanet J Rare Dis. 2022.
Fenner AL, Smith RP, Weber MN. CDC45 mutations in Meier-Gorlin syndrome: genotype-phenotype correlations. J Hum Genet. 2021.
de Looper HJ, van Hagen JM, van der Crabben SN. Clinical management guidelines for Meier-Gorlin syndrome. Eur J Med Genet. 2020.
Miller KM, Anderson JK, Roberts LW. Molecular diagnosis of Meier-Gorlin syndrome type 6 using next-generation sequencing. Mol Genet Genomic Med. 2019.
Medication Comparisons
Compare medications used to treat Meier Gorlin Syndrome 6 C4225188. 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 20, 2026. · Read our editorial policy