Overview

Definition of frontofacionasal dysplasia (FFND) 

FFND is a subtype of frontonasal dysplasia (FND), which is also known as median cleft face syndrome. FFND is a rare genetic disease that causes malformations of the head and face that are apparent at birth. FFND is caused by defects in certain genes, which are either inherited from parents or occur as a new mutation (de novo mutation) in the affected baby. When inherited from the parents, both parents must be carriers for that defective gene, and this inheritance pattern is called autosomal recessive.¹ Genetic counselling is recommended for patients with FFND and their families. 

Importance of surgical interventions

Surgical repair of facial malformations is an essential part of FFND management, and it varies according to the specific abnormality, the degree of severity, and the associated symptoms.² In addition to surgical repair, social support, speech therapy, and other services may also be beneficial. Early intervention is important to ensure that children with FFND reach their highest potential. 

Clinical presentation and diagnosis

Craniofacial abnormalities

Malformations associated with FFND are usually apparent in newborns, and they vary between different patients and may involve any of the following:^1,3,4

• Skull bone: premature closure of sutures (craniosynostosis) causing the head to appear shorter (brachycephaly), early ossification of some skull bones, underdevelopment of the front of the skull (frontal bone) and abnormal opening within it (cranium bifidum), there may also be associated protrusion of brain tissue through this defect (encephalocele) 
• Face: underdevelopment of the middle portion of the face (midface hypoplasia) 
• Nose: enlargement of air-filled cavities within the nose, underdevelopment of the nose and malformation of the nostrils  
• Mouth: incomplete closure of the mouth roof (cleft palate), abnormal groove in the upper lip (cleft lip), associated dental abnormalities, splitting of the uvula (bifid uvula) 
• Eye: wide space between eyes (hypertelorism), increased distance between inner eyelids (telecanthus), partial absence of eye (coloboma), drooping of eyelids (ptosis), inability to close the eyes fully (lagophthalmos) 

These abnormalities lead to several difficulties associated with feeding and speech (due to cleft palate and cleft lip), in addition, patients with FFND have an increased risk of middle ear infections.¹

Associated systemic anomalies

Other abnormalities can be associated with FFND and these include:^1,3,4

• V-shaped extension of scalp hair into the forehead (widow’s peak)  
• Benign fatty tumors (lipoma): frontal lipoma, nasopalpebral lipoma was reported  
• Facial hemangioma: was reported in a case of FFND  

Diagnostic criteria and imaging

Diagnosis of FFND can be suggested before birth during foetal ultrasound, which can detect physical abnormalities associated with FFND.⁴ However, most affected patients are diagnosed at birth upon clinical evaluation and imaging techniques. Imaging techniques, including computerised tomography (CT scans) or magnetic resonance imaging (MRI scans), can confirm the diagnosis and characterise the presence of certain skull abnormalities (craniosynostosis, cranium bifidum).^1,3 

Pre-surgical assessment

Multidisciplinary team approach

Management of FFND is directed toward the specific symptoms encountered in each patient. It usually requires the coordination of a team of medical professionals: paediatricians, plastic surgeons, orthopaedists, neurologists, ophthalmologists, and orthodontists.⁵ 

Planning of surgical repair 

Reconstructive surgical repair is generally performed in prepubescent children starting during infancy or early childhood, with the aim of restoring normal anatomy and function and reducing the negative social impact during childhood development. Surgical repair in early childhood and restoring facial contour can alleviate the psychosocial stress associated with FFND.² The facial deformities associated with FFND have the potential to negatively affect patients' quality of life and psychosocial health.⁵

Surgical techniques and procedures

Literature regarding the reconstructive surgery of FFND is limited. However, it requires multi-staged interventions of the bone and soft tissue, and it varies for each individual patient.

Surgical repair of malformations depends on the severity of the abnormality and the associated symptoms.^2.5

Primary surgical interventions

Cleft lip and cleft palate

Surgical repair of cleft lip and palate is intended to close the defect and to help the child to function and grow normally. This includes the reconstruction of the lip and the palate to correct the malformation.⁵ 

Cranium bifidum 

If the defect is not associated with herniation of brain tissue, observation is the standard treatment recommended. Otherwise, cranial vault reconstruction is indicated.⁶ 

Nasal deformities 

Reconstruction of the nasal contour and any abnormalities present with rhinoplasty.

Eye defects   

The deformities can be corrected accordingly, in cases of increased intercanthal distance, by transnasal wires in a procedure called bilateral medial canthopexy.²

Supportive measures 

• Feeding support
• Speech therapy 
• Dental procedures
• Social support 
• Drug therapy for middle ear infections⁵

Communities

Patient organisations build public awareness of the disease and drive research to improve patients' lives. In addition, they help patients and families connect and better cope with the illness.

Summary

Frontofacionasal dysplasia is a rare congenital disease that causes malformation in the head, face, nose, and eyes of affected patients. These malformations usually cause associated difficulties in feeding and speech. In addition, it has a negative psychosocial impact on affected patients. The diagnosis is usually made clinically and can be assisted by imaging modalities like Computed Tomography (CT) or Magnetic Resonance Imaging (MRI). The management is the surgical repair of the malformations with the aim of restoring normal anatomy and function of the affected parts. Surgical repair is best performed early in childhood to minimise the psychosocial impact associated with the condition.