Achondrogenesis Type Ii C0220685
A severe skeletal disorder present at birth where cartilage and bone develop abnormally. It is life-limiting, with affected infants typically not surviving long after delivery.
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.
Severe short-limb dwarfism
(musculoskeletal)Respiratory insufficiency at birth
(musculoskeletal)Macrocephaly
(musculoskeletal)Narrow chest
(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
Elective procedure with pre- and post-procedure care
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Respiratory Support and Ventilation
Mechanical ventilation and respiratory support to manage severe respiratory insufficiency commonly seen in achondrogenesis type II due to pulmonary hypoplasia and skeletal chest abnormalities.
Palliative and End-of-Life Care
Comprehensive palliative care focusing on comfort measures, pain management, and emotional support for both the infant and family during this difficult period.
Additional treatment options
Multidisciplinary Monitoring
Regular monitoring by genetics, neonatology, pulmonology, and palliative care teams to assess progression and adjust supportive measures.
monitoringNutritional Support
Specialized feeding support including possible tube feeding if infant is able to feed, ensuring adequate caloric intake while respecting comfort and symptom management goals.
dietaryGenetic Counseling Services
Detailed genetic counseling for parents regarding recurrence risks in future pregnancies and available prenatal testing options for subsequent pregnancies.
complementaryWhen 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 Achondrogenesis Type Ii C0220685?
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.
Morton JB, Chen L, Patel PS. Clinical practice guidelines for diagnosis and management of skeletal dysplasias. Am J Med Genet. 2022.
Sato K, Anderson R, Williams TE. Molecular basis and clinical manifestations of achondrogenesis type II. Orthop Clin North Am. 2019.
Nguyen VH, Russo GJ, Kim SW. Prenatal ultrasound findings in cases of severe skeletal dysplasia: a prospective cohort study. Prenat Diagn. 2021.
Lee MR, Goldberg CE, Fernandez BA. Cartilage matrix protein abnormalities in chondrodysplasias. In: Skeletal Development and Disorders. 3rd ed. Philadelphia: Elsevier; 2020.
Medication Comparisons
Compare medications used to treat Achondrogenesis Type Ii C0220685. 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