Frontofacionasal Dysplasia is a rare disease when a mutation affects a gene or chromosome (a genetic disorder). The disorder typically causes malformations of the head, facial(craniofacial), and eye(ocular) areas, which are often apparent from birth. It is estimated that fewer than 1,000 people in the US have this disease. Symptoms of the disease can greatly impact a person's life, depending on the severity of the symptoms. Because symptoms can involve different parts of the face, head, and eye structures, it often leads to needing support from many other specialists within the healthcare system to help manage the condition. 

Understanding frontofacionasal dysplasia

Frontofacionasal dysplasia often involves deformities of the head, eye, nose, lips, and roof of the mouth (palate). It shouldn't be confused with other syndromes, such as frontonasal dysplasia, as it contains no extracranial (outside of the skull) defects, often seen in this and related syndromes.¹

Symptoms of Frontofacionasal dysplasia vary from person to person, and the onset of symptoms can appear at different ages throughout their lifetime and can include 

• Cleft palate(structures that join the roof of the mouth together haven't formed or fused)
• Cleft upper lip(structures that form the upper lip haven't joined together)
• Cranium bifidum occultum(where the skull has not closed  properly)
• Scalp defects
• Deafness
• Short, broad head (brachycephaly)
• Hypoplasia of the nose(An underdevelopment of the nose and malformations of the nostrils)
• Blepharophimosis( Incorrect formation of the eyelids resulting in an appearance of narrow eye openings, droopy eyelids, and folds of skin on the inner part of your eyes going from the bottom to the upper corner)
• Ocular hypertelorism (an increased distance between the eyes) 
• Lagophthalmos(referring to an incomplete or abnormal ability to close the eyelids)
• Asymmetric face(one side of the face does not mirror the other)
• Asymmetric ears(one ear is not in the same position as the other ear)
• Hypermobility(some joints have a range of movement)
• Developmental delay² 

The signs and symptoms of frontofacionasal dysplasia differ for each person, and not all are present in every case.

Frontofacionasal dysplasia is a condition thought to be inherited in an autosomal recessive pattern. This describes a pattern of the likelihood of inheritance of some genetic disorders. The mutated gene causing frontofacionasal dysplasia occurs on one of the numbered chromosomes (or non-sex chromosomes). It requires two copies of the mutated gene, one from each parent, to cause the disorder(1 in 4 chance if both parents carry the mutated gene). It is possible to be a carrier of the defective gene but not suffer from the disorder. Even if both parents carry the mutated gene, it must then be inherited from both parents. Even in this instance, sometimes only one of the mutated genes can be inherited, meaning the child is then a carrier of the defective gene but does not have any disorder caused by the defective gene(1 in 2 chance). There is also a possibility that the child will not inherit either affected gene from the parents (1 in 4 chance), making the child neither affected by the disorder nor a carrier of the causative gene. 

Genetic mutations can also result from viruses, environmental factors (such as UV radiation), or a combination.

If you think you or your child might have this disease, start gathering your family's health history. Talk to your medical team about any family members with similar symptoms, when the symptoms first appeared, and any possible environmental factors.

The multidisciplinary team approach

Doctors within the antenatal team may suspect frontofacionasal dysplasia before a baby is born based on certain physical features seen during routine ultrasound scans, such as facial clefts(malformation of part of the face), cranium bifidum occultum(where the baby's skull is not closing properly), or encephalocele (part of the skull has not formed properly, and some of the brain tissue is outside of the skull). 

Most patients with frontofacionasal dysplasia are diagnosed at birth by paediatricians and other genetic disorder specialists based on a thorough clinical examination and identification of physical findings. Specialised tests, such as imaging techniques, may also be used to confirm the presence of certain skull malformations. For example, computerised tomography (CT) scanning or magnetic resonance imaging (MRI) can play an important role in this process. CT scanning uses a computer and X-rays to create a film showing cross-sectional images of the skull or other internal structures, whereas MRI uses a magnetic field and radio waves to form detailed cross-sectional images of certain organs and tissues.

There is no cure for frontofacionasal dysplasia, and treatment is focused on specific symptoms in each case. This requires a coordinated effort from a team of healthcare professionals, including but not limited to. 

• Paediatricians (doctors who manage medical conditions affecting babies and children)
• Surgeons
• Orthopaedic surgeons (specialists who diagnose and treat abnormalities of the skeleton, joints, muscles, and related tissue)
• Neurologists  (A doctor who experts in diagnosing and treating diseases and conditions of the brain, spinal cord, and nerves)
• Ophthalmologists (eye specialists)
• Dentists
• Orthodontist
• Speech therapist
• Other healthcare professionals

Surgery may be needed to fix certain birth defects, such as cleft lip and cleft palate, skull defects, encephalocele (when brain tissue protrudes through an abnormal opening in the skull), eyelid defects, and other malformations common in frontofacionasal dysplasia. The specific surgical procedures performed will depend on the severity of the abnormalities, symptoms, and other factors affecting quality of life. 

Babies and children with cleft lips and palates may need extra support from midwives and health visitors to help with feeding and ensure they get the right nutrients. They may also require dental treatments to fix crooked teeth or other dental problems related to their cleft lip or palate. They can also be prone to frequent ear infections and might need specific medicines or other treatments to manage them early on.

Early intervention is important to ensure that children with frontofacionasal dysplasia reach their potential. Special services other than medical professionals that may be beneficial include special social support and/or vocational services. Genetic counselling is also recommended for affected individuals and their families. 

A specialist would manage the case and coordinate all necessary surgical interventions, including the type and timing of the surgeries, postoperative care, and follow-up appointments. They would also refer to other relevant services when required, such as speech therapy, dental/orthodontic care, psychological support, and counselling.

The benefits and challenges of multidisciplinary care

A multidisciplinary approach offers personalised and comprehensive care for each case. This is essential in managing symptoms of frontofacionasal dysplasia, as the presence and severity of symptoms can vary greatly from case to case. Involving multiple professionals from diverse healthcare settings leads to improved outcomes, and consistent care throughout all stages of development can result in a better quality of life. However, this approach comes with its challenges. Coordinating different specialists across various settings can be challenging and may lead to delays when issues arise. Additionally, care may be delayed or hindered by problems with funding allocation for treatment across different healthcare settings.

Summary 

• Frontofacionasal dysplasia is a rare disease,  where a mutation that affects a gene or chromosome (a genetic disorder)
• The disorder typically causes malformations of the head, facial(craniofacial), and eye(ocular) areas, which are often apparent from birth
• Symptoms of Frontofacionasal dysplasia vary from person to person, and the onset of symptoms can appear at different ages throughout their lifetime
• There is no cure for frontofacionasal dysplasia, and treatment is focused on specific symptoms in each case. This requires a coordinated effort from a team of healthcare professionals
• Surgery may be needed to fix certain birth defects
• Early intervention is important to ensure that children with frontofacionasal dysplasia reach their potential