Skip to content

Acrodysostosis 1 With Or Without Hormone Resistance C3276228

Published: July 22, 2026Updated: August 27, 2026

A rare genetic disorder affecting bone development, causing short stature, distinctive facial features, and skeletal abnormalities. Some cases involve hormone resistance affecting growth regulation. Treatment is supportive, focusing on symptom management and addressing skeletal issues.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 27, 2026Editorial policy

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.

Short stature

(musculoskeletal)

Joint pain or stiffness

(musculoskeletal)

Frequency: Common at all stages

Brachydactyly (short digits)

(musculoskeletal)

Hypocalcemia due to PTH resistance

(musculoskeletal)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Exercise prescription and weight management

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Endocrine replacement therapy

Hormone replacement including thyroid hormone, growth hormone if indicated, and sex steroids at appropriate developmental stages to address endocrine deficiencies.

medication
3

Skeletal deformity correction

Orthopedic surgical procedures including spinal fusion for kyphoscoliosis, limb realignment, and joint reconstruction to address structural skeletal abnormalities.

surgical

Additional treatment options

Developmental and motor skill therapy

Intensive physical and occupational therapy to address motor delays, improve balance, enhance coordination, and maximize functional independence.

physical_therapy

Cardiorespiratory assessment

Comprehensive cardiac and pulmonary evaluation including echocardiogram, pulmonary function testing, and sleep studies due to association with potential midline defects and airway involvement.

monitoring

Neuropsychological support and educational assistance

Cognitive assessment, educational support services, and psychological counseling to address learning difficulties, social challenges, and emotional adjustment.

psychological

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Acrodysostosis 1 With Or Without Hormone Resistance C3276228?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Linglart A, Silve C. Hormone resistance in acrodysostosis. Best Pract Res Clin Endocrinol Metab. 2016;30(3):389-396.

review2016
2

Handrigan M, Deal CL, Van Vliet G. Acrodysostosis and related disorders. Endocr Dev. 2014;26:88-105.

review2014
3

Lee H, Graham JM Jr, Rimoin DL. Clinical and molecular characterization of acrodysostosis. Am J Med Genet A. 2012;158A(11):2672-2681.

clinical_trial2012
4

Krakow D, Rimoin DL. The skeletal dysplasias. In: Sperling MA, ed. Pediatric Endocrinology. 4th ed. Elsevier; 2020:456-478.

guideline2020

Medication Comparisons

Compare medications used to treat Acrodysostosis 1 With Or Without Hormone Resistance C3276228. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy