What are craniofacial malformations?
Specialists then speak of craniofacial syndromes. There are countless variants, such as Apert, Crouzon, Franceschetti, Pfeiffer or Down syndrome. Craniofacial malformations can occur in varying numbers and severity. Sometimes they affect not only the skull and face, but also the hands, feet or organs such as the heart. Treatment is very complex and depends on the type and extent of the malformation. Doctors from several specialist disciplines, for example genetics or psychology, are always involved in the diagnosis and treatment.
Craniofacial malformations are abnormal developments that affect the skull, jaw or face. The growth disorders are congenital and babies are born with the malformation. Craniofacial malformations often occur as part of a genetic disease. Experts speak of craniofacial syndromes. A large number of such syndromes are known, which are also extremely diverse and very different.
Craniofacial malformations can affect the child’s development, appearance and important senses such as sight, hearing, smell or taste. They can also be associated with other disorders. For example, some children are unable to eat or speak normally.
The different types of craniofacial malformations can vary in severity. Sometimes not only the skull and face are affected, but also the extremities (fingers, toes) or internal organs are not properly developed.
Craniofacial malformations – these areas can be affected
Some examples of craniofacial malformations that affect the mouth, chin, eyes, ears or skull:
- Cleft lip and palate
- Macroglossia: The tongue is too large.
- Dysgnathia: A malformation of the jaw that changes the appearance of the chin. In prognathism, the upper jaw is too far forward, in retrognathia the jaw is displaced backwards and in micrognathia it is too small.
- Microtia: A deformity of the auricle that can be associated with hearing loss.
- Hypertelorism and hypotelorism: The distance between the two eyes is too large or too small.
- Ptosis: The eyelid droops.
- Microcephaly and macrocephaly: The head is too small or too large compared to the body.
- Craniosynostosis: The cranial sutures ossify too early and the head is malformed. In the worst case, the development of the brain and sensory organs is impaired.
Craniofacial malformations – common syndromes
Craniofacial malformations often occur in the context of genetic diseases caused by chromosomal alterations. In some congenital malformations of the face and skull, however, no genetic alteration can be detected. Craniofacial syndromes are often associated with a bundle of malformations and disorders. They affect the skull, face or internal organs. Some examples:
- Apert syndrome
- Crouzon syndrome
- Goldenhar syndrome
- Pfeiffer syndrome
- Franceschetti syndrome
- Robin sequence (RS)
- Down syndrome (trisomy)
- Saethre-Chotzen syndrome
There are countless other syndromes associated with craniofacial malformations.
Craniofacial malformations – frequency and age
The frequency of craniofacial malformations cannot be generally quantified. This is also due to the fact that this collective term covers countless different malformations and clinical pictures. They can affect all areas of the face and skull. However, each individual malformation is very rare on its own. Craniofacial malformations are congenital and babies are born with them. They therefore affect even the very youngest children.
Craniofacial malformations: Causes lie in the womb
Craniofacial malformations are caused by maldevelopment in the womb. There are different ways in which the malformations develop and their characteristics. Researchers suspect that both genetic (hereditary) and external influences (in the expectant mother) play a role – a combination of several factors is probably involved in the development of craniofacial malformations.
Some examples:
- Apert syndrome: The malformation is inherited – a gene called FGFR2, which is located on chromosome 10, is altered. The mode of inheritance is autosomal dominant. This means that every carrier of the altered (mutated) gene also develops the disease. In Apert syndrome, the skull ossifies prematurely.
- Crouzon syndrome: An autosomal dominant inherited disorder. The gene mutation (FGFR2 gene) is located on chromosome 10. In Crouzon syndrome, certain sutures on the skull ossify too early.
- Goldenhar syndrome: A congenital malformation in which the face and skull are underdeveloped on one side. Goldenhar syndrome is not genetic, but develops sporadically. The exact causes are not known. However, doctors suspect that the blood supply in the womb is interrupted. As a result, the tissues from which the ears and jaw later emerge do not develop properly.
- Pfeiffer syndrome: A hereditary disease that is inherited in an autosomal dominant manner. The causes are mutations in the genes called FGFR-1 and FGFR-2.
- Franceschetti syndrome (Treacher Collins syndrome): A genetic disorder caused by a mutation in the TCOF1 gene. More rarely, the change affects the POLR1C gene or POLR1D gene. Among other things, these genes control the development of head features.
- Robin sequence (RS): A congenital malformation whose origin lies in an abnormal development in the womb. The causes and development have not yet been precisely clarified.
- Down syndrome: In children with trisomy 21, the chromosome with the number 21 is not present twice as normal, but three times.
- Saethre-Chotzen syndrome: A hereditary disease that follows an autosomal dominant pattern of inheritance. The causes are mutations or abortions in the so-called TWIST1 gene.
Symptoms: Craniofacial malformations manifest themselves in many different ways
The symptoms of craniofacial malformations always depend on the type of syndrome in which they occur. They can be very different and also vary in severity.
The following symptoms may indicate craniofacial malformations and various hereditary syndromes:
- Apert syndrome: Because the skull ossifies prematurely, children visually have a pointed, tower-shaped skull. The back of the head is not shaped. In addition, the midface is not properly formed. The children also usually have a cleft palate and their fingers and toes are fused.
- Crouzon syndrome: The skull is visually short and broad, the eyes protrude, the midface is moved backwards. In addition, the upper jaw is underdeveloped and the lower jaw appears enlarged. A pronounced malocclusion and misaligned teeth are possible.
- Goldenhar syndrome: This one-sided underdevelopment of the face and skull is characterized by the following symptoms, among others: underdeveloped jaw, chin deviates to the side of the affected half of the face, cheeks that are not properly developed, asymmetrical corners of the mouth, reduced ears, too narrow palpebral fissure or missing eye. Vision and hearing are often impaired. Some also suffer from a heart defect or kidney damage.
- Pfeiffer syndrome: The skull is short, the back of the head flat, the forehead pronounced and the midface underdeveloped. There is also a large distance between the eyes, the root of the nose is flat and the ears sit low. Malformations also occur in the hands and feet.
- Franceschetti syndrome (Treacher-Collins syndrome): The zygomatic bone, the lower jaw bone and/or the auricle are malformed. The lower eyelid as well as the cornea and iris can also be affected. Some people have impaired vision and hearing.
- Robin sequence: Affected children lift a small lower jaw that is displaced backwards. In addition, the tongue is displaced into the pharynx and there is usually a cleft palate.
- Down syndrome: Depending on its severity, trisomy 21 is associated with various craniofacial malformations, e.g.: short skull, broad and flat nasal root, upward and outward sloping eyelid axes, small mouth, small chin, short neck, enlarged tongue, lip and tongue furrow or malpositioned teeth. There are also malformations of the extremities, muscles, skin and heart.
- Saethre-Chotzen syndrome: The coronal suture on the skull ossifies too early on one or both sides. The face is asymmetrical, the eyelid droops, the children squint and the ears are too small. The toes and fingers can also be malformed.
Diagnosis of craniofacial malformations
The diagnosis of craniofacial malformations is complex and is usually carried out in specialist centers. Doctors from a wide range of disciplines are involved in our diagnostics, for example from pediatric radiology, oral and maxillofacial surgery, neurosurgery, pediatrics, neuropaediatrics and orthodontics. Sometimes craniofacial malformations can also be detected in the womb before birth, for example during an ultrasound examination as part of normal prenatal care. Amniocentesis or blood tests (e.g. for Down syndrome) can also sometimes provide clues.
After the birth, we always start by looking at the newborn visually. Craniofacial malformations can often be recognized by their external appearance. However, even experienced doctors or geneticists cannot tell at a glance exactly which syndrome is involved. We use imaging techniques for this.
The following methods are used in the diagnosis of craniofacial malformations, for example:
- Ultrasound examination (sonography): It shows how far the cranial sutures have already closed.
- 3D stereophotogrammetry: We photograph the skull from different angles. A computer then calculates a three-dimensional image of the skull.
- Magnetic resonance imaging (MRI = magnetic resonance imaging): This method works with strong magnetic fields and makes soft and hard structures visible. The skull is dissected into “slices” using computer technology, providing us with detailed cross-sectional images.
- Sometimes computed tomography (CT): An X-ray method that provides precise cross-sectional images of the skull.
- sometimes X-ray examination
We are trying to precisely identify the underlying syndrome associated with the craniofacial malformations. The treatment strategy also depends on this. Because some diseases are hereditary, geneticists also help with the diagnosis. A genetic test can show whether a gene is altered (mutated). However, craniofacial malformations can also occur in otherwise healthy babies and without an accumulation in the family.
Craniofacial malformations: Prevention, early detection, prognosis
Craniofacial malformations can be hereditary. Then certain genes are altered and you have no influence on them. In the case of congenital craniofacial malformations, the causes of the embryonic maldevelopment are usually not yet clear. The following therefore applies to both cases: You cannot prevent craniofacial malformations in your baby.
Pregnant women should always attend the recommended early detection examinations as part of prenatal care. This includes ultrasound examinations. This allows us to check whether the baby is developing normally in the womb or whether there are any malformations.
Progression and prognosis of craniofacial malformations
The course and prognosis of craniofacial malformations cannot be generally predicted. The extent of undesirable developments varies from person to person. The degree of severity can also vary. The course and prognosis also depend on the type of syndrome and the number of malformations a baby has.
We always try to treat craniofacial malformations as early as possible so that the development of the brain and sensory organs is not further impaired. This also applies to other malformations, such as those of the hands and feet. Even if the function of other organs is impaired, such as the heart or kidneys, this can have an unfavorable effect on the course and prognosis. Some children also suffer from mental impairments.
Craniofacial malformations: Treatment is complex
The treatment of craniofacial malformations always depends on the type and severity of the malformation. It ranges from a wait-and-see approach in combination with regular check-ups to extensive surgery. In any case, the treatment is usually complex and lengthy. It therefore belongs in our hands, as we have a lot of experience with the respective clinical pictures.
We discuss the therapy, work out the treatments individually for each child and plan them together. Specialists from fields such as oral and maxillofacial surgery, orthodontics, ear, throat and facial surgery, speech therapy, as well as pediatric dentists and specialists in childhood hearing disorders (pediatric audiologists) are involved.
Craniofacial malformations: Surgery and other treatments
If necessary and possible, we try to correct the deformity during an operation. Prematurely ossified cranial sutures, which occur in some syndromes, can constrict the growing brain in the skull. This increases the intracranial pressure, which can be very dangerous and cause major damage.
There are various surgical techniques, the choice of which depends on the type and extent of the malformation. The skull can be reshaped during an operation, for example: Surgeons remove parts of the skull, move them into a new position and fix them in place. Another option is so-called distraction systems, which stretch the bone. They slowly move apart the bony parts of the skull that were previously separated during an operation. The body then fills the resulting gap itself with bone substance. Distraction osteotomy is the name of the method. This gives the brain more room to grow.
Sometimes several surgical procedures are necessary, for example to reconstruct the face or correct misalignments of the jaw, fingers or toes. Such operations are usually also very tricky, require a lot of experience and medical skill and are also a great challenge for us. The aim is always to improve the function of the affected organ, but also the general cosmetic result. In addition, any visual, hearing or speech disorders must be treated.
Children with craniofacial malformations need intensive care from doctors, psychologists and other specialists throughout their lives to provide them with the best possible care. Although there are many treatment options available today, they still have to live with some (severe) handicaps and restrictions in the long term.