Meier Gorlin Syndrome 7 C4310738
A rare genetic condition affecting bone and body development. Children are born with small ears, skeletal abnormalities, and growth delays, requiring coordinated specialist care.
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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Comprehensive Growth and Development Monitoring
Regular pediatric endocrinology evaluations to track growth parameters, bone age, and pubertal development. Includes periodic hormonal panels and imaging to assess treatment response.
Endocrine Hormone Replacement Therapy
Individualized hormone replacement therapy based on specific endocrine deficiencies identified through testing. May include thyroid hormone, cortisol replacement, or sex hormone therapy for puberty induction.
Additional treatment options
Ear Reconstruction Surgery
Specialized surgical intervention to reconstruct underdeveloped external ears using cartilage grafting techniques. Typically performed in stages as the child grows.
surgicalJoint Mobility and Strength Training
Targeted physical therapy program addressing patella abnormalities and joint hypermobility. Focuses on strengthening surrounding muscles, improving stability, and preventing injury.
physical_therapyDevelopmental and Behavioral Support
Psychological services providing developmental assessments, counseling for body image concerns, and coping strategies for managing a rare genetic condition. Includes family counseling and school liaison support.
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 Meier Gorlin Syndrome 7 C4310738?
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.
Bicknell LS, Bongers EM, Leitch A, et al. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet. 2011;43(4):356-359.
de Munnik SA, Hoefsloot EH, Roukema J, et al. Meier-Gorlin syndrome. Am J Med Genet C Semin Med Genet. 2013;163C(2):93-110.
Kleinendorst L, van der Heul OB, Beunders J, et al. The first consensus conference on Meier-Gorlin syndrome: clinical practice guidelines for diagnosis and management. Orphanet J Rare Dis. 2022;17(1):42.
Thrift J, Gurnett CA. Meier-Gorlin syndrome: a rare cause of short stature with microtia and absent patellae. J Pediatr. 2018;197:263-267.
Medication Comparisons
Compare medications used to treat Meier Gorlin Syndrome 7 C4310738. 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