Antley-Bixler syndrome

Symptoms

What are the main symptoms of Antley-Bixler syndrome?

The main symptoms of Antley-Bixler syndrome (ABS) are distinct skeletal abnormalities, particularly the head and facial area, with or without the presence of ambiguous genitalia. The abnormalities include premature closure of skull bones (craniosynostosis), flattened midface (midface hypoplasia), nasal passage blockage (choanal atresia), prominent forehead (frontal bossing), protruding eyes (proptosis) and low set, dysplastic ears. Other distinct features include multiple joint contractures, fusion of forearm bones (synostosis), unusually long, slender fingers (arachnodactyly), and bowing of the thighbones. Individuals with ABS commonly have heart and kidney malformations. Intellectual development is variable.

References
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If you have Antley-Bixler syndrome will you always have symptoms?

Are there different types of Antley-Bixler syndrome?

What health problems should I look for in Antley-Bixler syndrome?

Any other disorders that look a lot like Antley-Bixler syndrome?

If you have Antley-Bixler syndrome will you always have symptoms?

Antley-Bixler syndrome (ABS) has a broad range of symptoms in which many can be corrected through proper clinical management. Skeletal abnormalities may be corrected surgically within the first couple months after birth. These surgeries can reduce the risk of secondary complications such as hydrocephalus (too much cerebrospinal fluid in the brain) and cognitive impairment.

Individuals who have ABS with genital anomalies and disordered steroidogenesis will need hormone replacement therapy to alleviate symptoms caused by cortisol deficiency. These therapies include testosterone or estrogen replacement males or females, respectively.

References
  • McKusick, V. (n.d.). Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis. Retrieved December 24, 2018, from https://omim.org/entry/201750
  • McKusick, V. (n.d.). Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis. Retrieved December 24, 2018, from https://omim.org/entry/207410
Are there different types of Antley-Bixler syndrome?

There are two types of Antley-Bixler syndrome (ABS): ABS with genital anomalies and disordered steroidogenesis, and ABS without genital anomalies and disordered steroidogenesis. They are two distinct disorders caused by mutations in the POR gene or the FGFR2 gene, respectively. As the name suggests the difference between the two types is the presence or absence of genital abnormalities and disordered steroidogenesis. Treatment for ABS - POR related form would include hormone replacement therapy to correct the deficiency in steroid hormone production. Life expectancy for both types are dependent on the severity of the skeletal malformations.

Discuss with your doctor about a referral to a medical geneticist if the type of ABS is unclear.

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

References
  • McKusick, V. (n.d.). Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis. Retrieved December 24, 2018, from https://omim.org/entry/201750
  • McKusick, V. (n.d.). Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis. Retrieved December 24, 2018, from https://omim.org/entry/207410
What health problems should I look for in Antley-Bixler syndrome?

Depending on what primary symptoms an individual with Antley-Bixler syndrome (ABS) has, there are secondary complications that should be monitored for. In individuals with severe protruding eyes (proptosis), lubrication is often required to prevent exposure keratopathy, which is damage to the cornea due to prolong exposure of eyes to the outside environment. If surgery was performed to correct premature closure of skull bones (craniosynostosis), monitoring of intracranial pressure is needed. If pressure increases, re-operation may be required. Continuous surveillance for hydrocephalus (too much cerebrospinal fluid in the brain) is also required in people with ABS. Ventriculoperitoneal shunt insertion may be needed to relieve pressure on brain from fluid accumulation.

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
  • McKusick, V. (n.d.). Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis. Retrieved December 24, 2018, from https://omim.org/entry/201750
  • McKusick, V. (n.d.). Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis. Retrieved December 24, 2018, from https://omim.org/entry/207410
Any other disorders that look a lot like Antley-Bixler syndrome?

There are many disorders with the primary feature of premature closure of skull bones (craniosynostosis). Antley-Bixler syndrome (ABS) needs to be distinguished from Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2 related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), Saethre-Chotzen syndrome, Boston-type craniosynostosis, Shprintzen-Goldberg syndrome and Muenke syndrome.

Antley-Bixler syndrome also looks a lot like congenital adrenal hyperplasia (CAH). CAH is a group of conditions that are characterized by impaired synthesis of steroid hormones. It would present with genital abnormalities similar to ABS type with genital anomalies and disordered steroidogenesis.

Discuss with your doctor for referral to a medical geneticist to determine the correct diagnosis.

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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