Introduction

One of the rare causes of facial clefts is frontofacionasal dysplasia, also known as FFND. This syndrome affects the development of the face leading to unusual gaps or splits in the middle of the face, especially around the nose and eyes.¹ While, if given the appropriate treatment, affected individuals can lead normal lives with little implications, it is still important to raise awareness to ensure prompt treatment.² This condition requires a multidisciplinary team approach. 

What is Frontofacionasal Dysplasia?

Frontofacionasal dysplasia, also known as Gollop syndrome, is an extremely rare genetic disorder first reported in 1981, with the majority of the affected cases being of Brazilian descent. 

FFND is an autosomal recessive disorder, meaning that the child needs to inherit two copies of the mutated from both parents to be affected.

While there are a variety of characteristics and symptoms experienced by individuals affected by FFND, addressed in the following section, the most apparent ones are the malformations of the head, face and eyes apparent at birth.³

Symptoms of Frontofacionasal Dysplasia

Due to the rarity of the disease, it can be difficult to identify children who are affected by FFND. However, there are common symptoms. These include:

• Short and wide head
• Different levels of development of the face
• Skull malformation
• Small nose and nostrils
• Gaps in the roof of the mouth or upper lip
• Tooth problems
• Higher susceptibility to ear infections
• Speech impairment
• Eyes spaced out
• Missing upper eyelid or coloured part of the eye
• V-shaped hairline falling into the middle of the forehead

However, it is important to note that these vary from person to person.³

Diagnosis and medical imaging

Frontofacionasal dysplasia can be diagnosed in a few ways. In some cases, diagnosis can occur prenatally, as physical abnormalities may be detected on a foetal ultrasound, such as facial clefts. However, for most infants with FFND, the diagnosis actually occurs after birth. To make a full diagnosis, two characteristics have to be identified, doctors perform a clinical evaluation to identify characteristic physical traits and do specialised tests, including some imaging like a CT or an MRI scan as these are fundamental to confirm the identifying skull malformations that are characteristic of the syndrome.^3,7 

Multidisciplinary care and treatment 

Since each individual is affected differently by FFND, a patient-centred approach needs to be taken to address each individual's needs. Therefore, treatment involves the collaboration of various specialities, including paediatricians, surgeons, orthopaedists, neurologists and ophthalmologists.²^,³

The current treatments available for frontofacionasal dysplasia include:

• Surgery: to minimise malformations of the head and face. Common procedures include the repair of the gap in the lip or roof of the mouth, closing unusual openings in the skull, or correcting eyelid problems. This can include the work of craniofacial, neuro, and ENT surgeons
• Paediatrician: for close monitoring of the child’s development and growth
• Feeding help: babies with gaps in their lips or roof of mouth might struggle to get enough food so they need special feeding techniques
• Dental care: unusual mouth anatomy might result in the teeth not being aligned, which could be remediated with the help of braces
• Ear infection treatment: this might include medication or other procedures
• Speech and language therapy: children affected by some abnormalities in the mouth might struggle to speak clearly, so providing this support early can help them mitigate this
• Social support
• Family planning: families with a history of FFND might want to consult a geneticist to discuss the chances of their future children having this syndrome

The coordinated work of the specialists and services help children with FFND to have the best possible quality of life.

Psychological impact of FFND

As FFND is an extremely rare condition, there are a limited number of sources of information. However, we can look at the psychological impact it can have on affected individuals based on similar conditions. 

Any condition that impacts our physical appearance can have detrimental impacts on our self-esteem and body image and therefore on our psychological. A study investigating the impact of these malformations on the head and face stated that individuals do tend to experience more social and psychological stress. This results from the negative social response to their facial deformity. It is important to acknowledge that having to experience this may escalate beyond stress and develop into a psychological illness; that’s why having good familial support is fundamental for these individuals to mitigate the negative feelings that arise from social stigmas, giving them the appropriate emotional and social support.⁵ However, please remember to talk with your healthcare professional if concerns arise so that they can guide you to access the right care.

Parental support and education

As a parent or a caregiver, it can be very challenging to provide support to children or individuals with a rare disease, mainly due to the lack of information and resources. The Genetic and Rare Diseases Information Center (GARD), part of the NIH, has a lot of information and resources that people can access to help carers and affected individuals have a better life.⁶ They have not only information about the conditions and how to get diagnoses but also patient and caregiver resources as well as other sources to help make informed decisions about your health. However, the website links are for the US, especially when it comes to how to overcome barriers to accessing services. If you are in the UK, a great place to obtain information is the Great Ormond Street Hospital for Children.

Research and Future Directions

If you want to look at what current developments and trials are occurring please follow the link appropriate for your region.

• US: www.clinicaltrials.gov
• Europe: https://www.clinicaltrialsregister.eu/
• Other sources: https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

Summary

Frontofacionasal dysplasia is a rare genetic condition affecting facial development. Its main features are widely spaced eyes, a broad nose bridge, a split in the middle of the face, an underdeveloped or missing nose tip and a V-shaped hairline dipping into the forehead. Diagnosis requires at least two of these characteristics. The treatment of FFND typically involves multiple surgeries over time to correct facial differences, where their timing is concordant with the individual's specific features and age. However, early intervention is best, to take into consideration both physical and emotional impacts. It is important to note that due to its rarity, treatment strategies for frontonasal dysplasia are still evolving. Currently, the approach includes correcting any skull abnormalities, addressing the spacing of the eyes, problems with feeding and speech, and nasal differences, but additional surgeries and treatments may be needed as the person grows. Due to the physical impact on one’s appearance this condition has, it can have psychological consequences, especially as children grow and become aware of their facial differences. 

Overall, frontonasal dysplasia is experienced differently by each individual, meaning that treatment has to be tailored to each of their needs. This call for collaborative work between healthcare professionals is to ensure patients can have the best quality of life possible, this being through improving physical appearance and functionality, giving them the tools to eat and speak confidently, or even just giving them the psychological support that they need, all just to promote their well-being.

FAQs 

How does FND affect life expectancy?

It depends on the individual, the severity of malformations and whether or not if surgery or any other treatments can improve the associated health problems.⁸

Who can I contact for more information about FND?

To obtain more information, contact the GARD information specialist.⁶