Overview

Although there have been some cultural shifts to celebrate the beauty of diverse bodies we have in society today, unfortunately, there is still inequality in the ways people are treated daily based on their looks. In particular, the degree to which someone’s face fits the beauty standards.¹ For people with the genetic condition Nager acrofacial dysostosis (NAD),² more commonly known as Nager syndrome, the fear of being treated differently because of their looks can become very disruptive in their day-to-day lives and overall psychosocial wellbeing. Nager syndrome can also impact the psychosocial health of caregivers of people with NAD.³ 

The article aims to better understand what NAD is; the ways it impacts the psychological and social well being of all who live with it; and finally the ways how to support them. 

What is Nager syndrome?

Nager syndrome is a genetic condition that appears from birth with the structural changes and underdevelopment in bones and tissue in the head, face, neck and upper limbs.² It is part of a wider group of disorders called acrofacial dysostosis  (AFDs) which all cause defects in the face, head, neck and limbs.⁴ In rare cases, the defects can even occur in the lower limbs also (Great Ormond Street Hospital for Children, National Institute of Health). 

Globally, there are up to 300 known cases of Nager syndrome but it is estimated that there could be more (Dayton Children’s Hospital). 

What are the causes of Nager Syndrome?

Researchers have found that mutations in the gene  SF3B4 could cause the defects that occur in people with Nager syndrome.⁵ This gene is key to formation of nerves and other muscle and skeletal structures that are important for chewing, drinking, facial expressions and parts of the ear (Great Ormond Street Hospital for Children). 

It is thought that many cases of Nager syndrome happen at random, meaning the changes in the SF3B4 gene happen randomly within family members.⁶ On the other hand, if there are siblings in a family who are both affected, there is a chance that each parent has a mutation of the SF3B4 gene.⁶ These changes are thought to be recessive, meaning that Nager syndrome would only be present in children if they inherit both copies of the gene mutation from each parent.⁶ But again, many of these cases happen at random with no influence from the parents. 

What are the symptoms of Nager Syndrome?

Symptoms of Nager syndrome is typically begin to develop from birth including (Great Ormond Street Hospital for Children,)²: 

• Face, head, and neck:
  • Downward sloping eyes 
  • Smaller, underdeveloped jaw
  • Difficulty breathing 
  • Difficulty eating and drinking 
  • Cleft palate or cleft lip (a split in the roof of the mouth or the upper lip)
  • Scalp hair growing up onto the cheeks 
  • Little or no eyelashes 
  • Underdeveloped or missing ears
  • Hearing loss

• Upper limbs:
  • Hands and/or arms bent in towards the body 
  • Underdeveloped or missing thumbs 
  • Curved, rigid, or webbed fingers
  • Rigid elbow joints 

• Lower limbs:
  • Dislocated hips
  • Webbed toes

However, lower limb defects are less common. 

How can Nager Syndrome be treated?

Treating Nager syndrome often takes a variety of surgeries and therapies to improve the function and aesthetic of different affected structures. This could include (Great Ormond Street Hospital for Children)⁵: 

• Skull and face surgery ( recommended  painkillers to relief  pain)
• Hand surgery 
• Plastic surgery 
• Ear, nose and throat surgery 
• Speech therapy 
• Physiotherapy (to help improve and maintain movement and coordination in the limbs)
• Tracheostomy (widening the windpipe for easier breathing in babies and infants)
• Hearing aids or cochlear implants
• Ear reconstruction
• Feeding tubes (for babies and infants with difficulty eating)
• Progressive drinking training (helping infants to be able to drink from a variety of sources including a teaspoon, cup and then bottle)

These surgeries and therapies used to treat and manage Nager syndrome can be continued up until the age of 20 years old, so healthcare providers recommended as early as possible.⁵        

How can Nager Syndrome impact our psychosocial well being?                                                         

Psychosocial impacts on a person with Nager syndrome 

Struggles with body image and self worth

Especially in teenagers and young people, body image can be a very sensitive topic as bodies start to change due to puberty (NHS). Sometimes, these thoughts of negative body image can become body dysmorphia. This describes a type of mental health disorder where someone begins to pick on flaws of their appearance that are not visible to anyone else but them and excessively work to conceal their perceived flaws (NHS). In a study on the mental health of children, teenagers and young people, researchers found that teenagers are up to 20 times more likely to struggle with body dysmorphia than children. Even adults can also develop body dysmorphia.⁷

With Nager syndrome however, the differences to what people deem as the norm are visible. The intention here is not to say that these differences are flaws. In reality,  we must be  able to acknowledge the differences and the unfair treatment people may get if they are deemed less beautiful than others. Unfortunately, those considered conventionally attractive have been shown to have more leverage in their choices in dating, jobs and more.¹ Struggling with this reality and comparing themselves to others, some with Nager syndrome may struggle with lower self-esteem, self-worth or lovability because of these unjust experiences in their social, work or school lives.⁸

Social anxiety and isolation

In response to these experiences,  fear of social interactions can rise.⁸ Instead of waiting for rejection, some with Nager syndrome may choose to isolate themselves from other people and restrict themselves to their homes. This behaviour can be characterised as a social anxiety disorder. Social anxiety disorder describes a disruptive fear of social interactions where someone may always feel as though they are being judged or criticised (NHS). 

Furthermore, there are some cases where children become selectively mute alongside having a social anxiety disorder. This mutism is not a choice; a child is physically incapable of speaking because of the fear of being around their school peers or other adults aside from their family (NHS). This may also be triggered by traumatic experiences like bullying. As symptoms of Nager syndrome also leave some unable to make certain facial expressions or have clear speech, this makes some even more fearful to interact with others and even come across as purposefully anti-social.⁹

Psychosocial impacts on carers of those with Nager syndrome Stress and responsibility 

The challenges faced by living with Nager syndrome do not just fall on people who have it, but on people who are caring for them too. Typically, primary carers may be parents or other family members.³ 

Aside from being a parent, there is an added level of responsibility when a child is born with a rare genetic condition like Nager syndrome. Parents begin to take on multiple roles which include: educating others and their children on the condition; protecting and fighting for respect for their children; and keeping up to date on current therapies to best help their children ³. This added responsibility can leave parents more likely to develop mental health conditions like depression. All of this takes time and dedication to helping children. This means there could be added financial stress as not as much time can be given to work to look after their children. 

Along with this, parents may face stigma or even blame themselves for the struggles the children may face as they cannot always protect their children from the opinions of others. This leads to parents not talking about their emotional well-being in order to focus on their children solely.¹⁰

Ways to help and support people living with Nager Syndrome

From what has been explored,  we must make sure that people living with Nager syndrome do not feel alone and that negative thoughts of body image are challenged. Most importantly, they are still acknowledged as whole people can have full lives, and not just have their condition as their sole identity. 

The different ways this could be done is through: 

• Cognitive behavioural therapy (CBT): CBT is a way that thought patterns and behaviours that are behind negative perceptions of body image can be challenged in healthy ways.¹¹ The most prominent way is to complete exposure exercises. This describes putting patients in simulations of daily events that could be triggers, but instead be able to manage better and redirect patterns of thinking to build up resilience and self confidence. Exposure exercises may also be used alongside media and psychological education which focuses on educating patients about the paths constant negative thinking can lead to. At the same, emphasis is put on the other interests, strengths and talents that also contribute to a patient’s identity outside of their physical appearance¹¹
• Exercising: Instead of focusing on aesthetic results, engaging in different types of physical activities can also help to maintain and improve motor function and strength. This may help  people with Nager syndrome to develop resilience and joy outside of their physical appearance¹¹
• Antidepressants: In certain cases when struggling with social anxiety or body dysmorphia, patients may be given antidepressants such as selective serotonin reuptake inhibitors (SSRIs). If you are someone you know may be struggling with this, it is important to seek medical attention and advice from your GP so they are able to evaluate self mental health status first before being put on any form of antidepressants at the prescription of a psychiatrist. In the first few weeks, some may find that their symptoms worsen before they get better so it is important to reach out to your GP if something doesn't feel right. However, this may begin to make approaching daily life easier, with lowered feelings of fear and stress (NHS, NHS)
• Support groups: Being able to be seen and heard by others may also help both those with Nager syndrome and their carers may help to lighten the stresses that come with living the genetic condition.¹⁰ Studies have found that being able to be honest with emotions and share advice can make families feel less alone with their experiences living with Nager syndrome. Furthermore, this helps to slowly break down the fears of socialising with others as a community grows through support groups. It should be noted that this may not be a universal experience. Some may find being honest about their experiences daunting or even lack access to support groups. Support groups should be an additional method of support and not a stand alone method¹⁰

Summary

In summary, Nager syndrome is a rare genetic condition from birth that changes key structures in the face, neck, head and upper limbs. Aside from the struggles faced in daily activities such as eating, smiling or talking, there are also wider psychological and social impacts of Nager syndrome on people with the condition and their carers. Often, people living with Nager syndrome may feel: safer isolated from others; negative towards their body image; and a sense of embarrassment or lower self worth because of reactions that people have had towards them or their perceptions of themselves. For outsiders of the community, it is important to help people living with Nager syndrome feel seen, heard and guided to different ways they can practise self-help or reach out to others for help. These are people who are more than just the genetic condition.