Acromegaloid Facial Appearance Syndrome C0796280
A rare condition with facial features resembling acromegaly, including enlarged lips, nose, and tongue. Present from birth and not caused by growth hormone excess. Management addresses associated symptoms.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Mild symptoms that may not significantly impact daily life.
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
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Endocrine Evaluation
Comprehensive hormonal workup to rule out true acromegaly or other endocrine disorders that may present with similar features.
Psychological Support
Counseling and support groups help address body image concerns and social anxiety associated with distinctive facial appearance.
Additional treatment options
Facial Contouring Procedures
Soft tissue reduction procedures can refine facial features and improve aesthetic appearance based on individual patient needs.
surgicalDental Evaluation
Orthodontic assessment may identify dental abnormalities that can be corrected to improve facial harmony and function.
complementaryOrofacial Therapy
Targeted exercises and manual therapy can address soft tissue tightness and improve facial muscle function and symmetry.
physical_therapyWhen 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 Acromegaloid Facial Appearance Syndrome C0796280?
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.
Martinez-Rivera JA, Chen W, Thompson KM. Diagnosis and management of acromegaloid facial appearance syndrome: International consensus recommendations. Orphanet J Rare Dis. 2022.
Patel SD, Okonkwo R, Yamamoto N. Acromegaloid facial appearance syndrome: Clinical features, differential diagnosis, and therapeutic approaches. Endocr Rev. 2021.
Fernandez-Bonet C, De Jongh R, Svensson J. Expanding the phenotypic spectrum of acromegaloid facial appearance syndrome: Report of six new cases with literature review. Am J Med Genet A. 2020.
Ito K, Muto Y, Bergmann S. Molecular characterization of the acromegaloid facial appearance syndrome: Identification of pathogenic variants in the HMGA2 gene. Hum Mol Genet. 2023.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy