Meier Gorlin Syndrome 1 C4552001
Meier Gorlin syndrome is a rare genetic condition causing short stature, small ears, and delayed bone development. It affects individuals from birth. Treatment focuses on managing symptoms and may include growth hormone therapy.
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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Growth and endocrine evaluation
Comprehensive assessment of growth patterns, endocrine function, and evaluation for growth hormone deficiency or other hormonal abnormalities affecting growth.
Nutritional optimization program
Calorically dense nutritional support and dietary counseling to maximize caloric intake and support optimal growth in the context of the metabolic profile.
Additional treatment options
Ear reconstruction surgery
Surgical intervention for microtia and ear abnormalities, ranging from ear molding in infancy to reconstructive procedures performed by experienced craniofacial surgeons.
surgicalMotor development therapy
Targeted physical therapy to address delayed motor milestones, improve muscle strength, and enhance overall physical functioning and mobility.
physical_therapyAudiological management
Ongoing hearing assessment and appropriate interventions including hearing aids or other assistive devices to address conductive hearing loss.
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 Meier Gorlin Syndrome 1 C4552001?
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.
Boczek NJ, Ferber MJ, Johnson J, et al. Meier-Gorlin syndrome: clinical and molecular characterization of a patient with ORC1 mutation. Mol Syndromol. 2022.
de Munnik SA, Hoefsloot EH, Roukema J, et al. Meier-Gorlin syndrome. Orphanet J Rare Dis. 2015.
Thauvin-Robinet C, Auclair M, Duplomb L, et al. The primordial dwarfism and auricular abnormalities: expanding the phenotype of Meier-Gorlin syndrome. Am J Med Genet A. 2014.
Narisu N, Bhatt K, Vetrini F, et al. Molecular genetics and clinical features of Meier-Gorlin syndrome. Hum Mol Genet. 2021.
Medication Comparisons
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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