Antley Bixler Syndrome Definition, Reason, Symptoms, Treatment & Prevention
Definition
Antley Bixler syndrome is a very rare genetic disorder. Generally characterized by abnormal shape of the face and head, and can also be accompanied by other bone abnormalities. In addition to bone abnormalities, people with Antley Bixler Syndrome can experience other forms of disability, such as defects in the urinary tract organs, nose, fingers, and so on.
This disease is a genetically inherited disease. But there are also some cases that occur spontaneously without any hereditary factors. In this world, about 20 people are known to have this syndrome. Among all sufferers, the majority are women.
Symptoms
The hallmark of Antley Bixler syndrome is an abnormality of the head and face. When a baby, generally the fontanel of a baby who has this disorder closes faster than most babies in general. Therefore, generally the head will look small and disproportionate, like a trapezoid shape.
Abnormalities in other areas of the face and head are the shape of the forehead which is prominent and very wide, the nose is wider than usual, the eyes tend to protrude, the shape of the ears is small, and the location of the ears is lower than it should be.
In addition, sufferers of Antley Bixler Syndrome generally also experience bone abnormalities. One of the bone disorders that often occurs is the joints in the arm area that are fused so that the arm cannot be bent. Apart from the arms, this joint union can also occur in the fingers, wrists, ankles, knees, or hips. As a result, the body will be stiff and difficult to move.
In some cases, there is a lining that covers the nose and throat which causes difficulty breathing. Congenital heart disease or abnormalities in the ducts can also occur
Reason
There are two types of Antley Bixler Syndrome, namely type 1 and type 2. What distinguishes the two types is the cause.
Antley Bixler syndrome type 1 is caused by a mutation in a gene called FGFR2. Meanwhile, Antley Bixler Syndrome type 2 is caused by mutations in the POR gene encoding cytochrome P450. This disorder generally causes Antley Bixler Syndrome type 2 accompanied by symptoms of genital ambiguity (the sex of the patient is not clear, resembling male or female).
The cause of the gene mutation in this disease is unknown. What is known is that this disorder can be passed on to children of fathers or mothers who have it too.
Diagnosis
Most cases of Antley-Bixler Syndrome are recognized before the sufferer is born. This can be known through an ultrasound examination (USG). Through this examination, the doctor can see the overall condition of the fetal bones. The presence of bone disorders, especially in the head and face, can make doctors suspect this syndrome.
If the examination for suspected Antley Bixler Syndrome is carried out after the baby is born, several radiological examinations such as CT scans and MRI are needed. Furthermore, to ensure the existence of Antley Bixler Syndrome, it is necessary to do a genetic examination.
Treatment
Treatment for Antley Bixler Syndrome varies greatly, depending on the disorder experienced by the sufferer. Treatment requires multi-disciplinary collaboration, including pediatricians, orthopedic specialists, medical rehabilitation specialists, physiotherapists, and many more.
Surgery is generally performed on abnormalities that interfere with growth and development, such as in cases of congenital heart disease, joint fusion, or airway obstruction, or abnormalities in the urinary tract. To prevent joint stiffness, regular physiotherapy is needed which is directed by a physiotherapist.
Prevention
Until now there is nothing that can be done to prevent Antley Bixler Syndrome. If a person has Antley-Bixler Syndrome and plans to have children, he should first do genetic counseling with a doctor. Counseling is needed to find out if there is a possibility that their child will later experience the same disorder.