The conditions: craniofacial malformations

Commonly known as a hare lip, it affects only the upper lip. It can present in a mild or more complex form, with a separation that also involves the nose and, at times, the dental arch. It can affect one side only (unilateral) or both sides of the lip (bilateral).

It is an opening in the palate that can involve the soft palate (the rear part with the muscles and uvula), the hard palate (the bony part) or both. There are also forms known as submucous, where the palate appears intact but the underlying muscles are not joined; these forms are often diagnosed later, when difficulties with speech or feeding emerge.

When the cleft affects all the structures mentioned (lip, dental arch, hard palate and soft palate), it is known as cleft lip and palate. In this case too, the malformation can occur on one side only (unilateral) or on both (bilateral), with complete or incomplete involvement of the structures.

In many cases the cleft is the only anomaly found in the child (isolated form), but it can also occur as part of broader syndromic conditions involving other organs, such as the heart or kidneys.

This occurs when one or more of the skull’s sutures close too early, before the brain has finished developing. This can alter the shape of the head and, in some cases, cause an increase in intracranial pressure.

The most common forms are trigonocephaly (ridged forehead), plagiocephaly (which causes asymmetry) and scaphocephaly (elongated head).

Diagnosis is confirmed through a specialist examination and radiological tests, while remodelling surgery is generally carried out between 6 and 12 months of age.

Craniofacial synostosis conditions are genetic disorders affecting the tissue that gives rise to bones and joints. In these cases, certain receptors that regulate growth do not function correctly, leading to abnormal bone development, often with early closure of the sutures of the skull and face.

There are more than 90 different syndromes belonging to the craniofacial synostosis group; the best known are Apert, Crouzon, Pfeiffer, Muenke and Saethre-Chotzen syndromes.

About half have a hereditary origin, passed on by one or both parents, but with manifestations that vary from person to person. Some forms are very severe, while others may go unnoticed.

Diagnosis requires teamwork by various specialists during pregnancy. Treatment is highly personalised and aims to improve both function and facial harmony through state-of-the-art surgical techniques.

These are rare malformations that appear as interruptions in the soft tissue or bones of the face and skull. They follow the classification devised by surgeon Paul Tessier, who identified 15 variants based on their location relative to the eyes.

As well as their aesthetic impact, these malformations frequently affect eyesight. Treatment often begins as early as the first year of life to reconstruct the soft tissue of the eyelids, cheeks, lips and nose.

These malformations arise from alterations in the development of the structures of the maxilla, mandible and ear, and can involve both skeletal and soft tissue.

Unilateral forms include hemifacial microsomia (also known as oto-mandibular syndrome) and Goldenhar syndrome; they cause facial asymmetry, but generally no problems with breathing, swallowing, speech or chewing.

Bilateral forms, on the other hand, seriously compromise the morphology of the face and therefore bring with them functional problems of various kinds, sometimes severe; these include Franceschetti syndrome (also known as Treacher Collins syndrome), Nager syndrome and Pierre Robin sequence.

These malformations are often associated with cardiac, renal, skeletal and nervous system anomalies, which is why a multidisciplinary clinical approach is necessary. Here too, treatment is highly personalised and aims to improve both function and facial harmony.

This group includes a broad and constantly evolving range of conditions that have not yet been precisely classified. Given their complexity, it is essential that they are studied by a highly experienced multidisciplinary team, able to define the most suitable treatment for each individual case.