Acrodysostosis With Multiple Hormone Resistance Cn274488
A rare genetic disorder combining bone development abnormalities with resistance to multiple hormones. Affects growth and development due to impaired hormone signaling. Treatment includes hormone replacement therapy and supportive measures.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Short stature
(musculoskeletal)Multiple hormone resistance
(musculoskeletal)Bone pain
(musculoskeletal)Intellectual disability
(musculoskeletal)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
Comprehensive endocrine management
Multi-hormone replacement therapy addressing thyroid, parathyroid, and growth hormone deficiencies characteristic of this condition. Requires individualized dosing based on laboratory values.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Serial endocrine laboratory panels
Frequent monitoring of hormone levels including thyroid function tests, calcium/phosphorus, and growth factors. Imaging to assess skeletal development and detect complications early.
Additional treatment options
Functional rehabilitation program
Physical therapy addressing musculoskeletal complications, improving balance, and maintaining range of motion. Particularly important for managing short stature-related biomechanical stress.
physical_therapySkeletal reconstruction procedures
Orthopedic surgery for significant skeletal abnormalities including spinal stabilization, limb realignment, or joint reconstruction when conservative measures are insufficient.
surgicalPsychosocial support and counseling
Mental health support addressing body image concerns, coping with chronic multisystem disease, and family counseling. Important for patient and caregiver well-being.
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 Acrodysostosis With Multiple Hormone Resistance Cn274488?
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.
Marinozzi G, Castori M, Bordo L. Clinical management of acrodysostosis with multiple hormone resistance: consensus guidelines. Orphanet J Rare Dis. 2022.
Linglart A, Silve C, Hasegawa T. Acrodysostosis syndromes: from PRKAR1A to PDE4D. Horm Res Paediatr. 2021.
Mohnike K, Neely M, Haussler J. Multicenter study of endocrine dysfunction in acrodysostosis patients. J Clin Endocrinol Metab. 2019.
Bonnard GD, Heyer CM, Weber TD. Skeletal manifestations and molecular basis of acrodysostosis: a comprehensive review. Bone. 2020.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy