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Craniofacial anomalies

Craniofacial anomalies fall under one of the disease groups within ERN CRANIO that covers a wide range of craniosynostosis and other craniofacial anomalies.

Aplasia cutis

Aplasia cutis is a congenital defect of skin, bone and/or dura at the vertex of the scalp, ranging from a minor area of skin that lacks hair follicles to an extensive wound of the scalp with exposed brain. Aplasia cutis can be an isolated defect or part of a syndrome.

Treatment is largely directed by the extend of the defect. If surgery is required, one should be aware of abnormal vascular perfusion of the scalp, making rotation flaps unreliable.

Craniofacial clefts

The presentation of craniofacial clefts has a wide variety, ranging from mild to very severe. It is marked by underdeveloped parts of the face, matching to the areas of fusion during embryogenesis, in which several types of tissue (bone, cartilage, teeth, tear duct, muscle, and/or skin) are hypoplastic or missing. In addition, encephaloceles can be part of the disorder.

The affected parts usually don't have a normal growth, and this may cause a worsening of asymmetry of the face and the need for repeated surgical correcting over the years.

Midline clefts

The affected area is situated in the midline of the face, either frontal, frontonasal, nasal or, very rarely, mandibular region. For some of these disorders, a genetic cause can be found.

Oblique clefts

The affected area is situated in the lateral parts of the face, either fronto-orbital, orbitonasomaxillar, or nasomaxillar. A combination of various clefts can also be encountered. In general, there is no genetic cause found.

The symptoms and consequences of facial clefts are highly dependent on the area affected. The function and growth of the affected area will be less good. The main problem with these conditions is that the growth of the affected areas of the face do not proceed normally. As a result, the asymmetry of the face can increase as the child gets older. As a result, multiple surgeries are required between the ages of 0 to 18 years. 

Craniofacial microsomia (CFM)

Craniofacial microsomia (CFM) is also known as microfacial microsomia. Hypoplasia of usually 1 side of the face (10% bilateral presentation), hypoplasia of the mandible, a deviated chin towards the affected side, weakness of the facial nerve, soft tissue deficiency, microtia or minor ear deformity. Goldenhar syndrome is similar to craniofacial microsomia, in combination with epibulbar dermoid and cervical spine anomalies.

Patients with a severe presentation can be at risk for breathing disorders and should be screened for this with a sleep study.

Overall, the presenting facial asymmetry does not worsen with time. Most surgeons tend to postpone surgical correction of the mandible, to avoid damage to the tooth buds, and prevent repeated surgery. From the age of 16 to 18 onwards, a final correction of the jaws can be considered, and this treatment also involves intensive treatment by the orthodontist

Experts from the ERN CRANIO network have developed a European guideline on the treatment of CFM patients.

CFM guideline for professionals

A patient-tailored version of the professional European guideline has been developed within ERN CRANIO as well.

CFM guideline for patients & families


Encephaloceles is a defect of the bone of the skull and/or face with herniation of (abnormal) brain tissue, sometimes combined with a rare facial cleft.

Frontal encephaloceles

The skull defect can be situated at the site of the frontal bones, the orbit or the nasal bone.

Basal encephaloceles

The skull defect is situated at the anterior skull base, and usually presents with a cleft palate and a mass (the encephalocele) in between the palatal shelves, next to hypertelorism with or without a bifid nose and a median cleft lip.

Facial dysostosis

Facial dysostosis describes a set of clinically and etiologically heterogeneous congenital craniofacial anomalies. These disorders arise as a consequence of abnormal development of the first and second pharyngeal arches and their derivatives during embryogenesis.


These disorders are highly related to breathing problems, and the newborn child should be screened with a sleep study. In general, the major site of obstruction is at the tongue base level. Whenever a child also has a cleft palate, surgical closure of the palate can worsen the breathing problems significantly. Before performing this surgical procedure, one has to be certain that breathing will not become obstructed. This can be done by performing an overnight sleep study with the child wearing a palatal plate that mimics a closed palate.


Breathing problems tend not to lessen with time in facial dysostosis, but need treatment. This can be either supportive measures such as oxygen during the night or CPAP, but it could also require surgical interventions like tracheostoma for severe obstructed breathing and mandibular distraction.

Treacher Collins

Symmetric facial anomalies: Hypoplasia of infraorbital rim and zygomatic arch, coloboma of eyelids, low position of lateral canthi, entropion, microtia, deafness, hypoplasia of mandible, breathing- and feeding difficulties. Often co-occurrence of a cleft palate.

Nager syndrome

Similar to Treacher Collins syndrome, combined with hypoplasia of the thumbs.

Miller syndrome

The facial features are similar to Treacher Collins syndrome.


Symmetric of asymmetric facial anomalies, choanal atresia.

Facial nerve palsy

Weakness of total paralysis of 1 or more branches of the facial nerve.

This problem can be encountered as part of craniofacial microsomia or for instance as part of Moebius syndrome.

The presentation can be very mild, with only weakness of the mandibular branch, resulting in a slightly asymmetric mouth when crying, or full blown with complete absence of motor function of the nerve. This can result in a low position of the eyebrow with inability to raise it, inability to close the eyelids, drooling due to lack of muscular functioning of the mouth.

Several surgical options are available, all depending on the severity of the condition.

Fibrous dysplasia

Fibrous dysplasia is characterized as a bone overgrowth disease with often unknown cause. The overgrowth of the bone usually becomes apparent during late childhood and progression stops at adulthood. The affected area can be rather limited in size or extensive. Depending on the extent of the affected area and the functional problems it causes, surgical treatment is mostly considered once the progression of the disease has stopped. Drug treatment early on can be on option, which is to be decided by endocrinologists.

Microtia informative videos

Microtia informative videos

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Microtia is characterized by underdevelopment of (part of) the external ear without other craniofacial anomalies.

An essential part of the screening of a child with a congenital disorder of the external ear is a screening on hearing.  Collaboration between the otolaryngologists and the reconstructive surgeon is essential regarding the planning of an external ear reconstruction and an implanted hearing device, so these two procedures will not intervene with each other.

One form of microtia is anotia, which is characterized by the absence of the external ear without any other craniofacial anomalies being present.


Neurofibromatosis is characterized by overgrowth of neural tissue, also affecting the skin. The disease can be confined to a relatively small area or may occur generalized. With the craniofacial area, neurofibromatosis can have a major effect on vision, motor function of the face, and esthetic aspect. Surgical interventions focus on restoring function and esthetics, but recurrence of neurofibromatosis is expected, requiring repeated interventions.