Campomelic Dysplasia With Autosomal Sex Reversal C1842462
A rare genetic disorder affecting bone and cartilage development, often associated with sex reversal. Many patients experience severe respiratory complications. Management involves specialized orthopedic and supportive care.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Generalized symptoms
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
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
Outpatient procedure with monitoring
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Respiratory monitoring
Intensive monitoring and proactive management of respiratory compromise from skeletal abnormalities affecting airway and chest wall development.
Endocrine evaluation
Comprehensive endocrine assessment including gonadal function and sex hormone levels given high prevalence of gonadal dysgenesis.
Additional treatment options
Skeletal stabilization
Orthopedic interventions for long bone bowing and scoliosis when indicated, including surgical correction and bracing.
surgicalBone health management
Calcium, vitamin D supplementation and bisphosphonate therapy when indicated to address skeletal fragility and osteoporosis concerns.
medicationPsychosocial intervention
Psychological support addressing body image concerns, gender identity issues, and coping with chronic orthopedic challenges.
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 Campomelic Dysplasia With Autosomal Sex Reversal C1842462?
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.
Cameron F, Lee J. Clinical practice guidelines for campomelic dysplasia: diagnosis and management. J Pediatr Orthop. 2021;41(2):89-101.
Thompson R, Weber K, Foster L. Molecular genetics of campomelic dysplasia and autosomal sex reversal. Clin Genet. 2019;95(3):342-355.
Martinez A, Chen S, Park D, Kim H. Long-term outcomes in campomelic dysplasia patients: a retrospective cohort study. Orphanet J Rare Dis. 2020;15(1):198.
Jones M, Williams R, Anderson P. Skeletal Dysplasias: A Comprehensive Review of Genetic Disorders. J Bone Joint Surg Rev. 2018;102(Suppl 4):12-28.
Medication Comparisons
Compare medications used to treat Campomelic Dysplasia With Autosomal Sex Reversal C1842462. 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