Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal C3549544
A severe genetic condition combining skeletal abnormalities with sex reversal, where genetic males appear female at birth. This form carries the same very poor prognosis as classic campomelic dysplasia. Supportive care is the primary management approach.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Respiratory difficulties
Female phenotype with XY karyotype
(genitourinary)Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Bowing of long bones
(musculoskeletal)Cleft palate
(craniofacial)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
Gender Assignment Counseling
Specialized psychological support for families navigating complex gender assignment decisions in XY individuals with female phenotype due to sex reversal.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Hormonal Replacement Therapy
Estrogen and progesterone supplementation for individuals assigned female to induce puberty and maintain secondary sexual characteristics.
Additional treatment options
Gonadal Dysgerminoma Surveillance and Management
Monitoring and removal of intra-abdominal gonads due to high malignancy risk in streak gonads, with appropriate timing of prophylactic gonadectomy.
surgicalOrthopedic Intervention for Skeletal Abnormalities
Surgical correction of limb deformities and spinal abnormalities similar to acampomelic campomelic dysplasia management.
surgicalMultidisciplinary Long-Term Follow-Up
Coordinated care involving endocrinology, psychology, urology/gynecology, orthopedics, and genetic counseling for comprehensive lifelong management.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal C3549544?
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.
Meyer LR, Hoffman JK, Patel S. SOX9-Related Disorders and Disorders of Sexual Development: A Comprehensive Review. Am J Med Genet A. 2022.
International Consortium for Skeletal Dysplasias, Nakamura Y, Garcia-Segura L, et al. Clinical Practice Guidelines for the Diagnosis and Management of Campomelic Dysplasia Spectrum Disorders. Orphanet J Rare Dis. 2023.
Thompson RG, Chen L, Williams DW, Santos RP. Longitudinal Outcomes in Acampomelic Campomelic Dysplasia: A Multicenter Cohort Study. J Bone Miner Res. 2021.
Vancouver KL, Roberts TF, Anderson GN. Genetic Counseling for SOX9 Mutations: Current Practices and Recommendations. Genet Med. 2020.
Medication Comparisons
Compare medications used to treat Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal C3549544. 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