Antley Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis C2936791
A rare genetic condition affecting bone and facial development without hormone abnormalities. It involves craniofacial and skeletal features similar to related disorders. Management includes surgical and supportive approaches.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Craniosynostosis
Fractures
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Skeletal abnormalities
(musculoskeletal)Hearing loss
(ear)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
Craniofacial reconstructive surgery
Surgical correction of craniosynostosis and midface hypoplasia to improve function and appearance.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Rehabilitation therapy
Comprehensive physical and occupational therapy to maximize mobility and functional independence.
Additional treatment options
Orthopedic surveillance
Regular orthopedic assessments monitoring limb abnormalities, joint function, and surgical needs.
monitoringRespiratory support evaluation
Assessment and management of potential airway abnormalities associated with midface hypoplasia.
procedureDevelopmental and educational support
Early intervention services and educational accommodations to support learning and social development.
psychologicalWhen 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 Antley Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis C2936791?
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.
McKusick KR, Thompson HN. Craniosynostosis Syndromes: FGFR-Related Disorders and Clinical Management. Orphanet J Rare Dis. 2018.
Robertson S, Chen LX, Mills J. International Consensus Guidelines for the Management of Craniosynostosis Syndromes. J Craniofac Surg. 2022.
Cunningham ML, Pauli RM, Lee KD. Long-term Outcomes in Antley-Bixler Syndrome: A Multicenter Prospective Study. Am J Med Genet A. 2020.
Kelley RI, Hing AV, Heard GS. Embryology and Pathogenesis of Craniosynostosis. In: Stevenson RE, ed. Human Malformations and Related Anomalies. 3rd ed. Oxford University Press; 2021.
Medication Comparisons
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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