Introduction

When a Fraser Syndrome (FS) diagnosis is made, it is not only the fetus or baby that is affected but the mother and in turn the whole family. This is because there is always a high chance that the child will pass in the first year of their life or be stillborn due to the low life expectancy.¹ This is a very rare autosomal recessive syndrome primarily characterised by cryptophthalmos (a genetic malfunction where the eyelids fail to fully develop in the womb), syndactyly (conjoined toes) as well as genital and respiratory malformations.²

Due to the lack of a cure for FS, pregnancy termination can be presented as an option.³ Research shows that this can be a cause of depression, post-traumatic stress and a complicated grieving process for the birth parents.⁴ Additionally, maintaining and treating these symptoms takes considerable time and a continuous effort that can be emotionally, physically and socially draining for not only the parents but the child as well.

This is why understanding the psychological and social impacts of FS is incredibly important. Not only for the holistic recovery of the birth parent but as support during the treatment period and possibly the passing of the child.

Understanding Fraser Syndrome

Fraser Syndrome, also known as Cryptophthalmos-Syndactyly Syndrome, is a genetically heterogeneous syndrome, meaning that different genetic mutations can result in the same condition. Gene mutations in FRAS1, FREM1, FREM2 and GRIP1 are what cause the syndrome’s symptoms.⁵ It was initially discovered in 1962 and defined in the same year.⁶ This disease is very rare, with an incidence rate of 0.43 in 10,000 or 1 in 200,000 newborns and 11.06 in 10,000 pass before birth due to this syndrome.⁷ Up until 2020 only 300 cases had been reported.

This pathology can be diagnosed using a criteria criterion that is divided into two - a major and minor criterion.⁸ To diagnose a child with FS, a doctor must confirm the presence of either two major symptoms and one minor symptom or one major and at least four minor symptoms. Only then can a child be diagnosed with FS.⁹

The following are the major criteria:⁸

• Cryptophthalmos
• Syndactyly
• Ambiguous genitalia
• Affected sib

Minor criteria:⁸

• Kidney agenesis
• Umbilical hernia
• Congenital malformations of the nose, ear and larynx
• Cleft lip and palate
• Skeletal defects
• Mental or cognitive impairment

Early intervention

When it comes to FS, early intervention and detection are very significant as they can highly contribute to the infant’s life expectancy. Through early diagnosis, healthcare providers can notice cryptophthalmos (a main symptom of FS) as it can be detected with a prenatal ultrasound.¹⁰ This can reduce distress for the mother and aid in a smooth pregnancy and delivery period. It can also provide time for the parents to educate themselves on FS to be prepared and ready to take care of their baby.

Diagnosis can happen as early as 18 weeks during the gestational period, making routine scans incredibly significant when your family has a history of FS. An early diagnosis will aid in the delivery room as particular care is needed when a baby is born with FS.⁹ Due to the high fatality rate of this disease, it is beneficial to be as mentally and psychologically prepared as possible before birth, cementing the importance of early diagnosis.

Most infants with FS pass away as newborns due to respiratory complications, central nervous system malformations, laryngeal stenosis (narrowing of the breathing airway, atresia (a rare defect affecting the food passageway), and obstructive uropathy (when the urinary tract is blocked). With early detection, healthcare providers will be able to manage these issues to avoid the infant passing so soon after birth.¹¹ Research also shows that newborns with FS die at birth due to other issues like laryngeal malformations or kidney abnormalities. Most importantly, an early diagnosis will also help parents seek counsel that will aid them if the baby passes soon after birth.

If the infant is not affected by any of these abnormalities, they can live long normal lives. FS is not the cause of any intellectual defects, meaning patients may need psychological support from time to time but not mental cognitive support of any kind. There are case studies of teenagers up to the age of 14 years old living with FS and adults up to 96 years old having a fulfilling life with this syndrome.^12,11 Despite this, because of the rarity of this syndrome, more research is needed on the life expectancy of FS patients.

This brings us back to the significance of having active support and psychosocial care for parents with children affected by FS or people affected by the syndrome as well.

Why the need for psychosocial support?

FS affects the child as much as it does the parents. Research shows that this is a hereditary syndrome, so it is probable for more than one child in the family to be born with FS. This may cause emotional and psychological stress for the parents. There is also a high possibility of social isolation of the family, especially in certain regions of the world.   

One of the biggest challenges that families, especially parents of children with FS, face is medical management. Due to cryptophthalmos, a symptom that affects about 96% of FS infants where both or one eye is completely or partially covered with skin, can lead to impaired or lack of vision.¹⁰ There is a need for vision-impaired care and knowledge; this care needs to be consistent and of a good quality to ensure the quality of life of the child is the best it can be. As a new parent, this may cause stress due to having to take care of a vision-impaired child without any previous knowledge of how to do so. Showcasing the importance of peer support and support from family and health care providers as well.

Since FS has no cure, treatments provided are either supportive or symptomatic.¹³ Based on the symptoms the child has, the paediatrician will suggest surgeries that will aid in easing the life of the baby which may in turn increase the child’s life expectancy. During this time of prolonged hospital visits, psychological support is recommended to ensure parents are mentally prepared to take care of their babies in a happy stress-free way that will not only benefit the infant but their overall lives as well.

Moreover, there are very low chances that an FS patient lives up to 20 years old.¹⁴ When it comes to FS patients and parents with children who have this syndrome, social and psychological support is essential. This is to ensure the pain of loss is managed well and in a safe and conducive environment that will enable them to heal in a healthy way.

The psychosocial impacts of FS

Emotional and psychological impact

As addressed previously, having to cope with the physical differences and medical procedures that children with FS undergo can affect not only the parent but the child as well. There are not enough case studies that speak on the psychological effects of FS on adolescents, young adults and adults, so we can not speak based on lived experiences. Despite this, understanding and knowing what is needed for these ongoing procedures paints a clear picture of the underlying emotional and psychological distress that can occur.

Self-esteem and self-identity of the patient and parents can be affected by an FS diagnosis. This is because of the different physical attributes that people with FS have. In some cases, they can be subjected to bullying and harassment due to their physical differences and perceived vulnerabilities. This is due to a lack of awareness and education on FS resulting in discrimination and exclusion from society and their families. This can in turn cause a lot of anxiety for parents with children who have FS and depression for children with FS due to the social isolation at school or any other places they may visit.

Social interactions and relationships

As a person with a disability, there could be some challenges that come with forming and maintaining relationships. This is mainly due to stigma and the social isolation that can sometimes happen when a person has FS. Due to the different physical features that a person with FS may have, it may lead to society not interacting well with them. This can cause them to internalize society’s perception of them, leading them to develop insecurities about their appearance. This can not only lead to low self-esteem but also cause them not to feel safe in approaching their peers or any other people. Their fear of being judged and or rejected in turn affects their ability to form meaningful and lasting connections.

Another barrier that can lead to a lack of social interactions and relationships is a possible communication barrier. Patients of FS sometimes have speech and hearing impairments; this can lead to a communication barrier, especially with people who do not know how to communicate using sign language. A recent paper shows that less than 4% of Americans can communicate using American Sign Language.¹⁵ A clear representation of the communication barrier that people with FS experience daily. This is why it is important as a family member or parent of a child or person with FS to learn sign language and how to read Braille to ensure the communication channel is without flaws.

It can sometimes be difficult for parents of children with FS to let them experience things due to fear of them getting rejected and or hurt by others. This can limit a lot of social exposure, significantly reducing their chances of making friends, especially during the childhood or adolescent phase. This demonstrates the need for parents and caregivers of children with FS to have support groups or counselling to help manage these difficult feelings to ensure their child’s quality of life is not affected.

Educational and employment challenges

Children and adolescents with FS need education that supports their needs. There are a lot of difficulties when trying to access inclusive education. This is because most schools lack the resources needed to accommodate and comfortably and efficiently educate patients with FS. This leads to most of them having to attend normal educational centres that do not have a conducive environment for them, hence hindering their learning.

Additionally, frequent medical needs can affect their education and employment in some cases as they can disrupt a student’s education and an employee’s responsibilities. Discrimination in the workplace can also be a cause of challenges that can impact a person with FS socially and psychologically. Some employers may be reluctant to hire someone with FS due to the perceived need to accommodate them.

Conclusion

This blog post has represented the need for building safe spaces and advocating for support networks and psychological support for people living with FS or parents of children with the syndrome. Research has shown that FS can be detected early and there is a chance that if your child is diagnosed during the early stages of pregnancy, they may be able to live a happy and normal life. FS should only be allowed to affect the physical aspects of the person but not the mental and social aspects of their lives. These issues are a cause of society lacking awareness and sufficient education on FS.

More research is needed to understand not only the life expectancy of FS but also the psychosocial impacts of FS to parents, caregivers and people with this syndrome.

Summary

FS is a genetically heterogeneous syndrome. Gene mutations in FRAS1, FREM1, FREM2 and GRIP1 are what cause the syndrome’s symptoms. It is a very rare syndrome with very low incidence rates. It is categorized by cryptophthalmos, syndactyly and urogenital and respiratory malformations. For a diagnosis to be made, a doctor must confirm the presence of either two major criteria and one minor criterion or one major criterion and at least four minor criteria.

Its rarity is a cause for a lack of awareness and knowledge of the disease altogether, which in turn leads to various psychosocial impacts for this population. Psychosocial impacts need research and solutions to limit their effects on the people with FS and their families, caregivers and friends. These impacts range from emotional and psychological impact, social interactions and relationships to educational and employment challenges.

All in all, awareness and advocacy need to be a priority to ensure people with FS have a high quality of life and parents of children with FS have the support needed through raising their children and sadly if they lose their children to the disease.