Antley-Bixler Syndrome

Antley-Bixler Syndrome

Article
Bone, Muscle, & Joint
Diseases & Conditions
+2
Contributed byMaulik P. Purohit MD MPHJul 18, 2021

What are the other Names for this Condition? (Also known as/Synonyms)

  • ABS (Antley-Bixler Syndrome)
  • Craniosynostosis, Choanal Atresia, Radial Humeral Synostosis
  • Trapezoidocephaly - Multiple Synostosis Syndrome

What is Antley-Bixler Syndrome? (Definition/Background Information)

  • Antley-Bixler Syndrome (ABS) is a very rare disorder resulting from the presence of abnormal genes in the human genome. These mutated genes affect the normal development of the head and face. It is an inherited disorder that is present since birth
  • Antley-Bixler Syndrome can lead to severe skeletal (bony) abnormalities and continue to progress to its chronic form, which causes harm to other parts of the body
  • The signs and symptoms of Antley-Bixler Syndrome are the under development of the face, forehead, and nose, protruding eyes, sagging eyelids, decreased or no mobility at the wrist, lack of ability to stretch out the fingers, abnormally long, extended and tapering fingers, etc.
  • Antley-Bixler Syndrome is diagnosed by a thorough physical exam along with an evaluation of the medical history and imaging studies, such as x-rays, CT and MRI scans of the affected body parts
  • The disorder has very limited treatment options available and it all depends on the severity of the syndrome and the extent of organs involved
  • Current studies do not indicate any methods available to prevent the occurrence of this disorder
  • Antley-Bixler Syndrome does not have a good outcome. However, studies illustrate that approximately one-third of the affected individuals with this disorder are alive

Who gets Antley-Bixler Syndrome? (Age and Sex Distribution)

  • Antley-Bixler Syndrome is an infrequent disorder that is inherited at birth
  • It is not a gender-specific condition and can affect both males and females
  • There is no recent data available to indicate that the disorder is more common among a particular racial or ethnic group

What are the Risk Factors for Antley-Bixler Syndrome? (Predisposing Factors)

  • Antley-Bixler Syndrome is an inherited disorder that’s runs in the families, hence individuals with a positive family history are at increased  risk of this syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Antley-Bixler Syndrome? (Etiology)

Antley-Bixler Syndrome is a genetic disorder that is present at birth.

  • There are two genes that may be mutated leading to the development of this disorder
  • It is an autosomal recessive disorder, meaning that both copies of the genes must be mutated to inherit this disorder
  • It is also possible to have the mutated gene present without having family history of the disorder. Nevertheless, the likelihood of developing this sporadic gene mutation is very small
  • The gene, known as the fibroblast growth factor receptor 2 gene (FGFR2 gene), can be mutated or it can arise due to a ‘missense mutation’ in which there is a small change in the coding sequence of the gene
  • There is no evidence illustrating one form of the disorder being more severe than the other. According to current research, the only information available is that this syndrome may occur by two processes

What are the Signs and Symptoms of Antley-Bixler Syndrome?

The signs and symptoms of Antley-Bixler Syndrome include:

  • Undeveloped face, forehead, and nose
  • Protruding eyes, sagging eyelids
  • Decreased or no mobility at the wrist
  • Lack of ability to stretch out the fingers
  • Abnormally long, extended, and tapering fingers
  • Decreased or no mobility at the hip, knees, or ankles
  • Fusion of the bones present in the forearm and thigh (humerus bone)
  • Kidney and heart associated abnormalities

How is Antley-Bixler Syndrome Diagnosed?

The diagnosis of Antley-Bixler Syndrome may involve the following tests and procedures:

  • A thorough physical exam along with a complete evaluation of one’s medical history
  • It is also important to take a good family history, as it is crucial for early detection of the syndrome
  • Skeletal radiograph may be ordered to assess the upper and lower extremity joints
  • CT and MRI scans can be undertaken to examine the head, neck, and facial regions, to understand the severity of the condition (so it can be treated appropriately)
  • Genetic screening of close family members

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Antley-Bixler Syndrome?

The possible complications associated with Antley-Bixler Syndrome include:

  • Blockage within the airway passage
  • Respiratory symptoms, which can even lead to death in infants
  • Closure of the head before complete development
  • Facial abnormalities, especially along the mid-section
  • Shortened muscles or joints

How is Antley-Bixler Syndrome Treated?

  • Antley-Bixler Syndrome is not a curable condition and it has very limited treatment options available. It mostly depends on the severity of the syndrome and the extent of organs involved
  • Based on how much the airway passage is affected the chances of survival may be predicted
  • The survival duration may also be based on the severity of the deformity that is present in other areas of the body, such as the head, face, and the extremities
  • Cranial vault remodeling is a procedure that can help fix medical issues that are associated with early closure of the head. This procedure can help resolve this early closure; it can also help in avoiding further damage to the mental growth
  • The goal of the treatment is to keep the patient comfortable and alleviate any underlying signs and symptoms (as much as possible)

How can Antley-Bixler Syndrome be Prevented?

  • Currently, there are no specific methods or guidelines to prevent Antley-Bixler Syndrome, since it is a genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Antley-Bixler Syndrome? (Outcomes/Resolutions)

  • Antley-Bixler Syndrome does not generally have a positive prognosis
  • However current studies illustrate that approximately 1 in 3 affected child may survive
  • There is a 25% probability that the condition can recur, even if it appears to slowly get better

Additional and Relevant Useful Information for Antley-Bixler Syndrome:

Current research studies show that the intelligence level of individuals with Antley-Bixler Syndrome is unaffected; these individuals can still have normal brain development.

Was this article helpful

On the Article

Maulik P. Purohit MD MPH picture
Approved by

Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

0 Comments

Please log in to post a comment.

Related Articles

Test Your Knowledge

Asked by users

Related Centers

Loading

Related Specialties

Loading card

Related Physicians

Related Procedures

Related Resources

Join DoveHubs

and connect with fellow professionals

Related Directories

Who we are

At DoveMed, our utmost priority is your well-being. We are an online medical resource dedicated to providing you with accurate and up-to-date information on a wide range of medical topics. But we're more than just an information hub - we genuinely care about your health journey. That's why we offer a variety of products tailored for both healthcare consumers and professionals, because we believe in empowering everyone involved in the care process.
Our mission is to create a user-friendly healthcare technology portal that helps you make better decisions about your overall health and well-being. We understand that navigating the complexities of healthcare can be overwhelming, so we strive to be a reliable and compassionate companion on your path to wellness.
As an impartial and trusted online resource, we connect healthcare seekers, physicians, and hospitals in a marketplace that promotes a higher quality, easy-to-use healthcare experience. You can trust that our content is unbiased and impartial, as it is trusted by physicians, researchers, and university professors around the globe. Importantly, we are not influenced or owned by any pharmaceutical, medical, or media companies. At DoveMed, we are a group of passionate individuals who deeply care about improving health and wellness for people everywhere. Your well-being is at the heart of everything we do.

© 2023 DoveMed. All rights reserved. It is not the intention of DoveMed to provide specific medical advice. DoveMed urges its users to consult a qualified healthcare professional for diagnosis and answers to their personal medical questions. Always call 911 (or your local emergency number) if you have a medical emergency!