What Is Binder Syndrome?

Binder syndrome is a congenital disorder. It causes an underdevelopment (hypoplasia) of the mid facial area, typically affecting the nose and jaw.  

As binder syndrome is rare, affecting around 1 in 10000 live birth cases and is currently understood to occur spontaneously.¹ However, there is research highlighting potential risk factors which could lead to the development of this disorder, perhaps it can even be avoided, Nonetheless, there are various treatment options available for those who have the disorder. 

Overview

Binder syndrome (binder type nasomaxillary dysplasia or maxillonasal dysostosis), is a congenital developmental disorder. 

Classified as a cranio-facial malformation, binder's syndrome is characterised by mid facial hypoplasia (an underdeveloped central area of the face), with common symptoms exhibiting a flattened nose, malocclusion, and recessed upper jaw.

Generally, the cause of binder syndrome is still unknown. Whilst there are potential risk factors which may increase the likelihood of a foetus developing the disorder, binder syndrome is mostly understood to be sporadic (meaning the disease occurs spontaneously with no apparent reason). Being a rare disease with multiple risk factors attributed to its pathogenesis, research is still yet no concrete evidence to a cause for binder syndrome. 

Causes of binder syndrome

Whilst case studies suggest potential causes of the disorder (pathogenesis), there is still no concrete reasoning as to why these risks lead to the development of binders syndrome. 

To date, key risks identified in case studies where children have binder syndrome include: 

• Hereditary genetics (in rare cases) 
• Birth trauma
• Maternal Vitamin K deficiency 
• Alcohol intake during pregnancy 
• Exposure to Phenytoin or Warfarin during embryonic development 
• Mothers with autoimmune disease (Systemic Lupus Erythematosus)

Signs and symptoms of binder syndrome

Common symptoms of Binder syndrome are characterised by the reduced development of the nose and jaw (causing retrusion of the nose and protrusion of the jaw). The severity of these symptoms depend on the severity of the form binder's syndrome a patient has. Patients that exhibit this disorder often have: 

• Underdeveloped or flattened nasal bridge 
• Underdeveloped upper jaw protrusion 
• Malocclusion (teeth misalignment when fitting together) 
• Comma or half moon shaped nostrils (columella)

Other less common symptoms include: 

• Malformation of spinal vertebrae 
• Hearing impairments 
• Cleft palate (incomplete closure of the roof of mouth)
• Congenital heart defects 
• Mild intellectual disability 

Management and treatment for binder syndrome

Treatment of binders syndrome depends on the severity of the disorder. Typically, treatment will begin during late childhood - teenage after their facial bones have stopped growing. 

Orthodontic Treatment

Orthodontic treatment through the use of braces will help to straighten the child's teeth and their jaw through the use of orthodontic treatment. This treatment can be used alongside surgery or on its own. 

Surgical options 

There are two main types of reconstructive surgery which may be offered to correct a flattened nose or midfacial retrusion. Routine methods include Le Fort I or II Osteotomy, or augmentation rhinoplasty. 

Le Fort I or II osteotomy aims to re-shape the face by fracturing specific facial bones and moving them. This can improve chewing and breathing for the patient, as well as aiding in aesthetic purposes. Le Fort 1 refers to breaking of the maxillary bone (area above the upper teeth) in order to straighten the teeth and correct malocclusion, whilst Le Fort II makes fractures in the upper jaw and nose, correcting nasal and occlusal deformity.²

Augmentation rhinoplasty aims to increase the size of the nose and improve bridge height. This is done by using a bone graft, cartilage graft (such as costal cartilage), or silicone to the existing nose structure.  

Overall, having surgery has shown major improvements to the mental health of patients alongside a low rate of revision surgery.  

FAQs

How is binder syndrome diagnosed?

Initially, your healthcare provider may be able to determine whether a foetus is exhibiting binder's syndrome due to facial abnormalities visible during 2D or 3D prenatal scans. Case studies have successfully identified the disorder as early as 21-24 gestational weeks, due to the identification of the small nose which coincides with the disorder. CT scans, MRI and further ultrasounds may be offered to view the babies face and bone structure for confirmation of the diagnosis.^3,4

How can I prevent binder syndrome?

As the cause of binders syndrome is yet to be discovered and is thought to be sporadic, there isn’t a known way to prevent it. During pregnancy, limiting risk factors which may cause damage to the foetus may also decrease the chance of the child developing the disorder. Speak to a medical professional for advice is you are pregnant and you are;

• Experiencing vitamin deficiency, or being concerned with vitamin deficiency, particularly vitamin K 
• Avoid taking warfarin or phenytoin. Always consult your health care provider for advice if you are pregnant and taking medication 

Who is at risk of binder syndrome?

Familial history

As previously mentioned, binder syndrome is thought to be a sporadic disorder, meaning that there is no cause as to why the disorder develops. However, some studies have identified a possible hereditary link, noting multiple people within a family having binder syndrome. This has led researchers to question whether binder syndrome is caused by a recessive or dominant gene. However, there is little research to determine whether this is the cause, and various case studies have also noted no familial links to developing the disorder.⁵

Autoimmune disease

Mothers with the autoimmune disease Systemic Lupus Erythematosus (or Lupus) have also been identified to have a potential risk of having a child with binder syndrome.^6,7 This may be due to medication used to treat the disease, one of which is warfarin. Research has shown similar symptoms of stippled epiphyses in children with binder syndrome whose mothers who had the autoimmune disease as also seen in those with warfarin syndrome,^7,8 but did not conclude whether it was caused by the autoimmune disease or the warfarin itself.

Vitamin K deficiency

Whilst it is rare for individuals to be vitamin k deficient, it can occur when someone is suffering from malnutrition. It can also be caused due to use of warfarin or phenytoin exposure. 

How common is binder syndrome?

Binder syndrome occurs in around 1 in 10 000 live birth cases, but it is speculated that the true number may be higher. Due to its similarities to other cranio-facial malformations, binder syndrome may be mistaken for other similar disorders. One commonly attributed misdiagnosis is to a group of rare developmental diseases, x-linked chondrodysplasia punctata. It is thought that binder syndrome may be a mild form/ variant of chondrodysplasia punctata as they cause similar facial malformation.⁹ 

When should  I see a doctor?

Typically binder syndrome will be spotted by a medical professional during your initial pregnancy scans. If your child does exhibit symptoms then further tests may be required. If you have binder syndrome and are struggling eating, breathing or it is impacting your mental health, then contact your healthcare provider.

As previously mentioned, Binder syndrome can be treated effectively using orthodontic treatment, or surgery. This can improve the patient's ability to eat and breath. Aesthetically, reconstruction to correct midfacial hypoplasia can also boost confidence and overall mental health of the patient. 

Summary

• Binder syndrome is a rare disease which causes facial abnormalities
• Binder syndrome is attributed to a range of potential risk factors, but not definitively
• Binder syndrome is thought to be a sporadic disorder
• Orthodontic treatment and or plastic surgery is an effective treatment available for sufferers of binder syndrome