Introduction 

What is frontonasal dysplasia?

With only 100 documented cases in scientific literature, frontonasal Dysplasia (FND) is a rare condition leading to physical abnormalities.^1,3 The condition is caused by genetic factors, which could be hereditary or a random mutation of the ALX genes; these genes encode proteins functioning as transcription factors, regulating gene activity like cell migration and growth.^1,3 Signs of FND generally include a range of craniofacial anomalies including wide-set eyes (orbital hypertelorism), a flat, wide nose, a midline face cleft (as depicted in Figure 1.0), and ankyloglossia, which consists of the frenulum limiting the tongue’s movement.¹ 

FND occurs in three distinct forms, each varying in severity and presenting unique signs and symptoms. Mutations in the ALX3 gene lead to type 1 FND, ALX4 mutations result in type 2, and ALX1 mutations cause type 3, ALX3 and ALX4 are essential for nasal development, whereas ALX1 in the formation of the eyes, mouth, and nose.³ 

Overview of diagnosis and treatment

FND can be detected prenatally and is often diagnosed early in infancy; treatment is typically implemented in infancy or early childhood to ensure enhanced social integration through minimal social stigmatisation during the child’s key developmental years. Although craniofacial abnormalities may also lead to functional problems, people with FND tend to have a normal life expectancy.⁴ Surgical interventions focus on aesthetic restoration and functional outcomes by performing different reconstructive surgeries. Utilising reconstructive surgery and early intervention in their treatment is essential in enhancing the quality of life and managing outcomes.⁵

Surgical techniques for reconstructing frontonasal dysplasia 

There is not much publicised information on the reconstructive surgical management of FND, however, a range of procedures can be implemented depending on the patient and the phenotypes presented. There are various procedures to address different characteristics such as cleft lip and palate repairs, advanced rhinoplasty, facial bipartition surgery, orthognathic surgery, and facial recontouring -involving a variety of methods to correct facial asymmetries, abnormalities, and appearance using standardised facial balances- and laser treatment for atypical hair growth.⁴ 

Rhinoplasty- nasal reconstruction

This is a procedure to reshape the nose to change the nasal tip and bridge, which is often performed by inserting additional cartilage to modify the nose and applying the required suturing. The patient is put under general anaesthesia and incisions are made to access the nasal framework. The cartilage is reshaped and grafted to enhance its structure.⁶ Tip extension sutures, septal extension grafts, interdomain and transdermal suturing, and derotation grafts can also be utilised. The soft tissue is reshaped on either side; this preserves the underlying tissue for repositioning or contouring, allowing a smoother, stable tissue foundation, and ensuring better integration and healing.⁵ Surgeons can perform submucosal resections of the nasal turbinates to ensure the patient can breathe freely.⁶

After a month, patients will be brought in to revise the progress since the original surgery;  followed up with further surgeries such as scar revision, fusiform excision, or minor reshaping, as required.^6,7 

Hypertelorism correction

Hypertelorism correction is a process that reshapes the eyes or placement and moves them closer together; this can be executed by two surgeries: box osteotomy when the maxillary width is normal, and facial bipartition when it is short.⁷ 

Several variations of box osteotomy are highly complex and customised to each individual’s needs. The most common procedure starts with general anaesthesia and incision from ear to ear across the top of the head. The skin and tissue are pulled forward, allowing access to the underlying bone structure; the bone over the forehead is removed and an incision is made inside the upper lip to access the upper and lower orbital areas respectively. Precise cuts are made around each orbital and the sockets are repositioned whilst the eyes are protected, ensuring no nerves running beneath the eye are damaged. A small bit of bone from the nasal bridge might be removed to improve alignment. The orbitals are set in place using screws or stitches and any extra skin is removed. Bone grafts might be used to ‘fill in spaces’ and dissolvable stitches are utilised; a fluid drain is utilised post-surgery and removed in a few days.⁶

Facial bipartition is a technique that can be used to both correct hypertelorism and reshape the face, specifically when there is a defect in the upper jaw. After the anaesthetic dose, an incision is made near the hairline, leaving minimal scarring, and going from ear to ear. The skin and soft tissues are pulled down, exposing the skull to cut the frontal bone and allow repositioning of the orbitals and face shape from the forehead to the upper jaw. This process can leave gaps after reshaping the bones, which are filled with bone grafts. Stitches, screws, and plates can be used to secure the bones and grafts during healing; the skin is then closed over and secured with dissolvable stitches.

Cleft repair (Lip/Palate)

A cleft lip is when the upper lip occurs when a baby's upper lip doesn’t fully develop, causing a gap; a cleft palate is when the roof of the mouth doesn’t fully form, resulting in an opening.

To repair a cleft lip, the opening is closed and the appearance of the upper lip and nose is enhanced, as shown in figure 2.0. A general anaesthetic is administered and after making incisions on each side of the cleft to form skin flaps, they are stitched together using dissolvable stitches.

To repair a cleft palate, the gap is closed by repairing and adjusting layers of tissue in the palate and nasal cavity. After general anaesthetic, incisions are made on either side of the gap, and the tissue is carefully loosened and stretched to close the gap; once this is corrected, the muscles and palate lining are repositioned, and dissolvable stitches are used to close the wound.⁶ 

Outcomes of reconstructive surgeries

There are a range of reconstructive surgeries to address different manifestations, however, the aforementioned surgeries address hypertelorism, a broad nose, and a cleft lip or palate- the hallmarks of FND. The outcomes of reconstructive surgeries are generally positive, especially as the procedures are performed earlier in life.⁷

Rhinoplasty reconstructs the nasal anatomy, helping improve airflow (breathing) whilst enhancing facial proportions and the nose shape. Cleft lip repair restores a normal lip contour, improving facial symmetry; cleft palate repair allows a natural facial development, and closes any possible gap between the mouth and nasal cavity, stopping food from exiting through the nose. Cleft lip and palate surgeries ensure proper breathing, eating, drinking, hearing, and speech development. Box osteotomy and facial bipartition provide better-aligned, symmetrical eyes, helping with hypertelorism and achieving a more proportional appearance. Facial bipartition can help with airway problems, depth perception, visual alignment, and the reshaping of the front part of the skull, upper jaw, and face- elements of facial contouring.⁸

In most cases of FND, multiple reconstructive surgeries will be required and some may even require follow-up surgeries, checkups, or orthodontic treatments; these could be to address the remaining (or later developed) facial asymmetry or functional issues. Overall, these reconstructive surgeries improve the functional and aesthetic challenges faced, subsequently improving the quality of life experienced by improving physical and psychosocial outcomes.⁹

Risks and complications

Risks depend on the surgery executed, however, all surgeries carry a risk of infection or bleeding. Facial bipartition can lead to a gap between the front teeth, requiring orthodontic treatment. In rare cases it could lead to brain injuries, strokes, seizures or bleeding, however, this chance is less than 1%. Both box osteotomy and facial bipartition have a risk of cerebrospinal fluid leaks, eye or optic nerve damage, as well as swelling and bruising.⁹ A cleft palate could cause a hearing condition called glue ear and prevent proper breastfeeding (leading to underweight babies) Cleft repairs carry a complication of allergic reactions to anaesthetic and possible respiratory problems, whereas nasal reconstruction could lead to issues with breathing, cartilage damage, nose bleeds and a temporary change in smell. In rare cases, vascular blood clots and extreme bleeding could occur. 

Summary

FND is a rare craniofacial disorder that is caused by a mutation with the ALX gene which can cause issues with breathing, sight, speech, and feeding. Reconstructive surgery within the treatment for FND is essential for the quality of life of the patients. Procedures like this mostly occur at a younger age since FND often manifests with obvious signs; a multidisciplinary team is pertinent to treatment- this ranges from surgeons to nurses, to speech and language therapists, to dentists, and many more. Surgeries like nasal reconstruction, cleft repair, and hypertelorism correction are not only customised for each individual but address different aesthetic, mental, and functional challenges. By improving their appearance and crucial functions such as breathing, eating, and speaking, individuals with FND are more likely to live fulfilling lives. Although surgeries always carry the risk of complications, they also significantly reduce the psychological impact and improve the long-term health conditions of patients with FND.