Antley-Bixler syndrome

Living with

"When am I going to die from Antley-Bixler syndrome?"

Although, as of January 2019, studies on the natural course of Antley-Bixler syndrome (ABS) are currently lacking, the prognosis is dependent on the severity of the skeletal and craniofacial malformation. Very severe skeletal malformations can cause stillbirths or death shortly after birth. Many individuals with ABS die in infancy from respiratory compromise. For individuals with mild malformation, their prognosis improves with age. However, with effective airway management, many individuals will have a reasonably good prognosis.

References
Show More Content Like This

More Living with Content

Does Antley-Bixler syndrome affect males or females more?

Is there anything that increases the risk to have a child with Antley-Bixler syndrome?

Do people with Antley-Bixler syndrome have intellectual disability?

Is everyone with Antley-Bixler syndrome affected the same?

Is there a cure for Antley-Bixler syndrome?

I need to have minor surgery and I have Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis. Is there anything special that needs to be done?

How is prenatal diagnosis done for Antley-Bixler syndrome?

Can I find out if my baby will have Antley-Bixler syndrome before pregnancy?

Will my daughter who has Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis need to have corrective surgery for ambiguous genitalia?

What do I do if my child who has Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis is ill?

I have Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; will I be able to have children?

Does Antley-Bixler syndrome affect males or females more?

Antley-Bixler syndrome appears to affect males and female equally.

References
Is there anything that increases the risk to have a child with Antley-Bixler syndrome?

When the father is of older age (advanced paternal age), there is a higher risk to have a child with a de novo (brand new) mutation in the FGFR2 gene associated with Antley-Bixler syndrome without genital anomalies and disordered steroidogenesis. This mutation is not inherited from a parent, but occurs as a new mutation in the sperm that creates the baby.

Additionally, there is an increased risk to have a child with ABS with genital anomalies and disordered steroidogenesis when both parents are carriers of a POR mutation.

References
Do people with Antley-Bixler syndrome have intellectual disability?

Intellectual disability is a minor concern for individuals with Antley-Bixler syndrome. The degree of cognitive impairment is likely associated with the severity of craniosyntosis (premature fusion of many skull bones) and timing of corrective surgery.

References
  • Idkowiak, J. (2017, August 03). Cytochrome P450 Oxidoreductase Deficiency. Retrieved December 25, 2018, from https://www.ncbi.nlm.nih.gov/books/NBK1419
  • Robin, N. H. (2011, June 07). FGFR-Related Craniosynostosis Syndromes. Retrieved January 3, 2019, from https://www.ncbi.nlm.nih.gov/books/NBK1455
Is everyone with Antley-Bixler syndrome affected the same?

People with Antley-Bixler syndrome are affected differently and it is difficult to predict the severity of medical concerns at birth. Some people are more mildly affected and some people are more severely affected. Not all people affected with Antley-Bixler syndrome in the same family are affected similarly.

References
Is there a cure for Antley-Bixler syndrome?

There is no cure for Antley-Bixler syndrome. Treatment is limited to management and surveillance of medical concerns, and surgical intervention. For example, if someone has hydrocephalus, pressure inside the skull (intracranial pressure) may increase and a tube (shunt) may need to be surgically placed to drain the extra fluid from the brain. Infants who have premature fusion of many skull bones (craniosynostosis) and a severe skull deformity may need surgery early in the first year of life. There are published guidelines for management and surveillance for Crouzon syndrome on the website http://genereviews.org/.

References
I need to have minor surgery and I have Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis. Is there anything special that needs to be done?

For patients with Antley-Bixler syndrome (ABS) with genital anomalies and disordered steroidogenesis, during periods of illness or stress your body will need more corticosteroids than you generally take. Work with your endocrinologist to decide how much extra you should take and for how long you should take the extra medication.

References
How is prenatal diagnosis done for Antley-Bixler syndrome?

If the disease-causing variant has been identified in an affect family, babies can be diagnosed before birth with genetic testing through chorionic villus sampling or amniocentesis. Chorionic villus sampling is a procedure that is done between 11 and 14 weeks of pregnancy. A catheter is put through the cervix, and a small piece of the developing placenta is taken for genetic testing. It has been associated with up to a 1% risk of miscarriage. Amniocentesis is done at 15 weeks of pregnancy or later. It involves putting a needle in to the amniotic sac and removing fluid for genetic testing. It has been associated with up to a 1 in 300 risk of miscarriage, but newer studies suggest that the risk is likely much lower. To learn more about testing options, find a genetic counselor near you on the National Society of Genetic Counselors' website.

References
Can I find out if my baby will have Antley-Bixler syndrome before pregnancy?

Testing is available Antley-Bixler syndrome (ABS) even before pregnancy. This testing is called preimplantation genetic diagnosis, or PGD. PGD involves in vitro fertilization (IVF). The embryos that come from the IVF can be tested for ABS. Only the embryos found not to have the condition are used for a pregnancy. It will be very important for you to have genetic testing for ABS before starting the IVF process. To learn more about PGD and your reproductive options, find a genetic counselor at the National Society of Genetic Counselors' website. You will also need to work with a reproductive endocrinologist who does PGD with IVF. Speak to your doctor about a referral to a reproductive endocrinologist in your area.

References
  • Altarescu, G. et al. "Preimplantation genetic diagnosis (PGD)--prevention of the birth of children affected with endocrine diseases." J Pediatr Endocrinol Metab. 2011; 24(7-8):543-8.
Will my daughter who has Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis need to have corrective surgery for ambiguous genitalia?

Many, but not all, girls who have Antley-Bixler syndrome (ABS) with genital anomalies and disordered steroidogenesis need corrective surgery. For those who do, some parents chose to have this done early in infancy. In some cases, due to urine reflux (back up) into the bladder or the kidneys, surgical repair needs to be done early in life. Other parents postpone surgery until their daughter is old enough to make the decision herself. To learn more about genital surgery in girls with Antley-Bixler syndrome, visit the CARES Foundation.

References
What do I do if my child who has Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis is ill?

For children who have Antley-Bixler syndrome (ABS) with genital anomalies and disordered steroidogenesis, it is best to discuss medication changes with your medical team. During a mild illness in which the child is able to keep hydrated, steroid doses are increased. Children who are vomiting or have diarrhea and are unable to take their medicine orally should be given their medication through an IV (needle). If blood pressure, blood sugar, or electrolytes become abnormal, the child should be put in the hospital for careful monitoring and treatment. Talk to your doctor about signs to watch for and an action plan if your child becomes sick.

References
I have Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; will I be able to have children?

Fertility may be a concern for individuals with Antley-Bixler syndrome (ABS) with genital anomalies and disordered steroidogenesis. However, there is a lack of reports describing reproduction in individuals who have ABS with genital anomalies and disordered steroidogenesis, and therefore, the prevalence of reproduction is uncertain.

References

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me