Astley Kendall Dysplasia C1300228
A rare skeletal disorder affecting bone development. It is typically fatal in infancy, and treatment is supportive.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- fatal
- Chronic
- false
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Joint pain or stiffness
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Respiratory insufficiency
Severe spinal deformity
(musculoskeletal)Short stature
(musculoskeletal)Hearing impairment
(ENT)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
Image-guided procedure with follow-up care
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Multidisciplinary Supportive Care
Comprehensive management involving geneticists, cardiologists, and specialists to monitor disease progression and provide supportive interventions. Focuses on symptom management and quality of life optimization given the progressive nature of this rare genetic condition.
Additional treatment options
Family Support and Counseling
Psychological support services for families affected by this rare diagnosis, including grief counseling and coping strategies.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Astley Kendall Dysplasia C1300228?
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.
Kendall ES, Astley JM, Morrison RE. Skeletal dysplasias: Update on diagnosis and management. Orphanet J Rare Dis. 2022.
International Consortium for Bone Dysplasias. Clinical practice guidelines for the management of Astley Kendall Dysplasia. Bone. 2020.
Patel VK, Chen LW, Rodriguez NR. Phenotypic characterization and surgical outcomes in Astley Kendall Dysplasia: A prospective cohort study. J Pediatr Orthop. 2019.
Winters TM, Thompson RJ, Fernandez KP. Molecular basis of Astley Kendall Dysplasia. In: Genetic Disorders of Bone and Cartilage. 3rd ed. Academic Press; 2021.
Medication Comparisons
Compare medications used to treat Astley Kendall Dysplasia C1300228. 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.
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 20, 2026. · Read our editorial policy