Antley-Bixler syndrome

Treatment

What are the first steps after a diagnosis of Antley-Bixler syndrome is made?

After a diagnosis of Antley-Bixler syndrome (ABS) is made, an evaluation is recommended to determine the extent of disease and needs of the individual. Referral to appropriate specialist for evaluation include endocrinology, clinical genetics, neurosurgery, otolaryngology, and cardiology. Functional adrenal studies, regardless of the presence of genital abnormalities, are recommended to assess steroid hormone deficiencies. Additional test to assess the extent of the disease include cranial CT scan and/or MRI, assessment for upper-airway obstruction, radiographs, echocardiogram, and abdominal and pelvic ultrasound.

Discuss with your doctor about any concerns you have or for a referral to a medical geneticist and other medical specialist. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website.

Find a Genetic Counselor in North America from the National Society of Genetic Counselors to discuss more.

References
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Is there a treatment for Antley-Bixler syndrome type with genital anomalies and disordered steroidogenesis?

Is there a treatment for Antley-Bixler syndrome type without genital anomalies and disordered steroidogenesis?

Is there a treatment for Antley-Bixler syndrome type with genital anomalies and disordered steroidogenesis?

Treatments for Antley-Bixler syndrome (ABS) with genital anomalies and disordered steroidogenesis include steroid hormone replacement therapy, multiple surgeries, air management, and physical and occupational therapy for individuals with joint contractures and elbow synostosis. Functional adrenal studies, regardless of the presence of genital abnormalities, are recommended to assess steroid hormone deficiencies. Genital abnormalities such as hypospadias and cryptorchidism in males, and clitoromegaly and vaginal hypoplasia in females can be corrected through surgery. Craniosynostosis will also need surgical correction, with earlier surgical correction associated with a better cognitive outcome. A major concern individuals with ABS is airway obstructions. It is common to require an endotracheal intubation immediately after birth. Nasal stints or tracheotomy also may be required,

Discuss with your doctor about any concerns you have or for a referral to a medical geneticist and other medical specialist.

A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website.

References
Is there a treatment for Antley-Bixler syndrome type without genital anomalies and disordered steroidogenesis?

Antley-Bixler syndrome (ABS) without genital anomalies and disordered steroidogenesis is considered a FGFR-related craniosyntosis syndrome. Children with these syndromes benefit from a multidisciplinary team approach practiced at most craniofacial clinics. The team can identify and address physical, development, and psychosocial issues. Furthermore, craniosyntosis corrective surgery must be performed before 18 month old. It is common for repeat surgeries to be required.

Discuss with your doctor about any concerns you have or for a referral to a medical geneticist and other medical specialist.

A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website.

References

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