Apert syndrome is a rare congenital disorder. It is caused by a mutation of a single gene which controls the time of fusion of the fibrous joints (bone sutures) between the skull bones. Babies with the affected gene will have an early fusion of their skull bony elements, as well as the entire face, especially the orbits and jaws. The skull bones are fused prematurely and the skull is underdeveloped; the midface appears retruded (sunken); as a result the eyes protrude and the eyelids tilt downward. The forehead may be high and the head longer than normal. Fused fingers and toes (syndactily) are also seen. Cleft palate and deafness may be present. Many children also have mental delays, speech development and behavioral problems that can vary from mild to severe.

The premature closing of the skull bones is treated with surgery so that the interference with the brain development is prevented. This release usually is performed at the age of 6-8 months.

The midface is treated either by utilizing distraction osteogenesis, or Le Fort III osteotomies. The first procedure is a surgical intervention during which a device (a distractor) is placed and the midface then is slowly advanced into the correct position. The second procedure involves osteotomies of the bones of the facial skeleton above the level of the orbits, detachment of the whole midface bony complex and advancement into the appropriate anteroposterior plane. These surgeries are performed between the ages of 4 and 12 years of age. Maxillofacial and Plastic-Reconstructive Surgeons usually perform these technically very demanding procedures.

Other associated procedures include the wide set eyes correction, the placement of ear tubes, or the need for a tracheostomy if severe breathing problems are present.

Mental development and normal intellectual ability are dependent on the timing of the cranial vault release, although some brain parts may be already affected. It has been shown that if the surgical intervention was done at the correct timing and the child was raised in a family environment, then 4 out of 10 children will have a normal mental capability. This comes in contrast with cases of institutionalized patients, where the ratio drops to 1 out of 18.

Psychologists and sociologists may offer their support to alleviate behavioral and emotional problems in patients with normal intelligence levels, as well as to those with lower intelligence quotient.

Life expectancy of these patients is steadily improving due to the early recognition and subsequent early treatment. It can reach the normal or almost normal range.

Cleft lip is a congenital abnormality resulting from a failure of the embryonic parts of the lip to unite. A vertical fissure that extends into one or both nostrils is the characteristic sign of this deformity. This separation often extends beyond the base of the nose and may include the bone of the upper jaw. A cleft palate is a split in the roof of the mouth. It may present only in the hard palate or may involve the soft palate as well. Cleft lip and cleft palate can occur on one or both sides of the mouth. Cleft causes may include a combination of genetic and environmental factors, medications administered during pregnancy (such as anti-seizure, anticonvulsant drugs, Accutane, and methotrexate), or as a result of exposure to chemicals or viruses while the fetus is developing in uterus. The development of the lip and the palate is separate, so it is possible to have a cleft lip without a cleft palate, a cleft palate without a cleft lip, or both together.

Many problems are associated with cleft lip and palate such as eating disabilities, ear infections, hearing loss, speech problems and missing malformed or displaced teeth. The treatment of cleft lip and palate patients requires application of certain protocols and a sequence of surgical interventions at different stages is necessary. The team of experts involved in the treatment of cleft lip and palate patients includes Plastic surgeons, maxillofacial surgeons, otolaryngologists, anesthesiologists, orthodontists, prosthodontists, general dentists, nurses, speech pathologists and therapists, psychologists, geneticists, social workers.

The surgical plan for a baby with a cleft lip may require one or two surgeries depending on the extent of repair needed. The first surgical procedure is usually performed at the age of 3-4 months. If a revision is necessary, it may be performed later on.

Multiple surgeries will be required for the treatment of a cleft palate. The baby is operated initially between the ages of six to ten months. This first surgery aims to close the abnormal fissure and provide the child with a functional palatal vault. It also helps in reducing the chance of developing otitis media and aids in the development of the facial bones and teeth.

The second surgical procedure is usually planned after the age of 8. At this stage, a bone grafting of the maxilla is performed and the upper jaw fissure is closed. Further surgeries aiming to improve speech may also be required at this stage.

Following the eruption of the permanent teeth, orthodontic treatment is often needed to level and align the dental arches.

Additional surgeries may have to be performed to improve the appearance of the nose and lip, to correct the position of the upper jaw and to help with breathing problems. Finally, scar revision surgeries and laser treatments may be performed at adolescence, to improve the aesthetic appearance further.

Crouzon syndrome is a genetic disorder that affects the first branchial arch, which is the precursor of the maxilla and mandible.

In most infants with Crouzon syndrome, the fibrous joints between some of the skull bones fuse early (craniosynostosis). It usually presents as brachycephaly resulting in the appearance of a short and broad head. Additionally, facial abnormalities typically include low-set ears as typical characteristic, ear canal malformations are very common, beak-like nose, exopthalmos (unusual bulging or protrusion of the eyeballs) due to shallow eye cavities after early fusion of the surrounding bones, hypertelorism (increased distance between the eyes), divergent strabismus (deviation of one of the eyes outward), hypoplastic maxilla (insufficient growth of the upper jaw) and, underdevelopment of the midface associated with with protrusion of the lower jaw, although the size of the lower jaw is normal (relative lower jaw prognathism). Within the oral cavity, common features are a narrow/high-arched palate, a posterior bilateral crossbite, hypodontia (missing some teeth), and crowding of teeth. As the upper jaw is underdeveloped, patients will present with a considerable underbite and subsequently develop chewing problems.

Crouzon syndrome is also associated with patent ductus arteriosus (PDA) and aortic coarctation and Ménière's disease as well as shorter humerus and femur bones.

Each child may need a different treatment plan as the planning is depended on which of the sutures are fused. A tracheostomy may also be required if severe breathing problems are noted. Early surgical intervention aims to prevent the closure of the skull sutures before affecting the brain's development, as well as to avoid mental retardation and blindness. Surgical teams of maxillofacial surgeons and plastic surgeons undertake the treatment of this very complex condition. Reshaping of the bones, correct positioning of the orbital sockets, upper jaw and midface, correction of the ears and many other relevant surgeries are necessary to improve the functional and esthetic aspects associated with this syndrome. Once the appropriate treatment protocols are applied, the patients are expected to live a normal lifespan.

A facial cleft is an extremely rare congenital anomaly defined as an opening in the face affecting bones, soft tissues, skin, etc. Many variations of facial clefting can be identified and different classifications have tried to describe the types of clefting that may occur. Most of the times, a combination of facial clefts is seen. According to Tessier and relative to the anatomical position of a cleft, we may classify them as midline facial clefts (bisection of the midline of the facial structures), paramedian clefts (away of the midline structures), orbital clefts (involving the orbit as well as adjacent structures), lateral clefts (which run horizontally on the face). According to Van der Meulen and relative to embryogenesis, we may identify the intranasal dysplasia, the nasal dysplasia, the nasomaxillary dysplasia and the maxillary dysplasia.

The cause of facial clefting is still unknown, although few theories have been proposed.

Due to the variation in facial clefting each case is planned accordingly. The location and extent of the cleft along with the type of structures involved will guide the decisions for the surgical treatment. The timing of the intervention is also a point of controversy. Soft tissue and bony reconstruction on a growing skeleton are necessary. The fact that the facial structures of the patient will continue to grow may lead to reopening of the deformity, which will require further operations at a later stage. The surgical team has to consider the functional aspects, the psychological sequelae, the rate of growth relative to the age of the planned intervention, the urgency of the underlying condition and many other factors to plan carefully and successfully the sequence of the interventions.There are many ongoing discussions about the type and time of corrections so that each surgical team will perform according to its training and experience. The treatment of the facial clefts can be divided into different facial areas: the cranial deformities, the orbital deformities, the nasal deformities, the midface deformities and the intraoral and perioral deformities. Usually, it takes many years, until the age of 18, to fully reconstruct the facial structures both in the functional and aesthetic aspect.

Fibrous dysplasia is a noninherited developmental hamartomatous abnormality of the bone, in which normal bone marrow is replaced by fibro-osseous tissue. The bony area which is affected will be weak, prone to fractures and possibly expanded beyond the regular margins of the bone shape. The disease may present with two variants: The monostotic fibrous dysplasia (localized to a single bone), or the polyostotic fibrous dysplasia (affecting multiple bones).

Polyostotic fibrous dysplasia can be a part of McCune-Albright syndrome (unilateral polyostotic fibrous dysplasia, ipsilateral café-au-lait spots of the skin, and endocrine imbalances such as early onset puberty), or Mazabraud syndrome (polyostotic fibrous dysplasia associated with soft-tissue myxomas). Fibrous dysplasia can also occur along with other endocrine diseases such as hyperthyroidism, hyperparathyroidism, diabetes mellitus, Cushing syndrome and acromegaly.

Fibrous dysplasia in the craniofacial skeleton may present as a painless expansion of a bone or generalized facial asymmetry. Continuous growth of craniofacial lesions may result to progressive facial deformity. The bones of the base of the skull may also be affected. Patients may develop vision and/or hearing loss due to narrowing of the optic nerve and/or auditory canals. Other signs of constriction of foramina or obliteration of bony cavities are orbital dystopia, diplopia, proptosis, epiphora, strabismus, facial paralysis, tinnitus, nasal obstruction. In addition to clinical findings, diagnosis is based on results of the radiographic examination and histopathological findings.

Although there are is much controversy regarding the treatment of craniofacial fibrous dysplasia, surgical intervention aims to correct or prevent functional impairment and achieve normal facial aesthetics.

Surgery can be conservative, involving a recontouring procedure directed towards acceptable facial aesthetics. Recurrence, especially during the growing age, is frequently seen. One important limitation in the effectiveness of surgical treatment is the need of protecting important facial structures, which may not allow complete removal of the lesion. Surgery may be postponed until the end of adolescence period, hoping that the disease will enter in a self-limiting phase. A more aggressive approach may be considered if the skull base is diseased and complications of compression foramina and orbital apex are evident. It is important to follow the patients closely after surgical intervention. A study has shown stabilization of the disease 13 years after conservative surgical treatment. The risk of malignant transformation to osteosarcomas has been estimated to 0.4%. Other treatment modalities such as bisphosphonates or calcitonin treatment are also being used.

Hemifacial microsomia is a birth defect presenting as a deficient development of the tissues on one side of the face. It occurs in approximately one in 5,000 births, thus being the second most common facial congenital defect after clefts. Some cases can be mild and others severe. When eye involvement is present (epibulbar dermoids) and/or some of the neck bones are fused, it is also known as Goldenhar syndrome. It can be seen on both sides of the face in 15-25% of the cases. This condition results in an asymmetry of the face. Typically, only the lower part of the face is involved, but sometimes the eye and forehead can also be affected. The cheek on the affected side has less projection due to the incomplete growth of the bone underneath it. The lower jaw is also smaller and in some cases the jaw joint can be completely malformed or missing. When the jaw joint is absent on one side, the child’s tongue can partially obstruct the airway causing obstructive sleep apnea. Parents observe that the corner of the mouth is higher on this side and that the chin does not line up in the facial midline. Weakness of the muscles on the affected side may also be present. The ear may be normal, malformed, or completely absent. A partial hearing loss may be evident on this side. Skin tags in front of the ear or in a line between the ear and the corner of the mouth may also be present. Intelligence and development are normal, although psychological sequelae may be profound.

The treatment plan for a child with hemifacial microsomia depends upon the severity of the condition. Correcting the facial asymmetry to help normalize appearance can be done in different ways and at different times. We believe that treatment for the lower jaw should begin at an earlier age, using a technique called distraction osteogenesis; this is done by performing an incomplete cutting the lower jaw bone and placing and a metal device on the bone with a screw poking out through the skin or through the mucosa inside the mouth, which is turned 1mm every day to increase the length and/or the height of the jaw bone. The early intervention has the advantage to correct the asymmetry early enough so that social stigmata may be eliminated.

The disadvantage of this approach is the questionable compliance of a small child to the whole process. We can also implement surgical correction by utilizing a conventional orthognathic procedure at a later stage, in cases that the patient presents at an older age for treatment. Sometimes a bone graft is placed to augment the angle of the mandible. For patients born without a jaw joint, we can reconstruct this joint using the child’s rib bone. In cases of adults, we choose total joint reconstruction with custom-made prosthetic joints made of polyethylene and titanium. Every case of mandibular and/or joint deformity is individualized according to the degree of the deformity and the age of the patient at the time of the initial consultation.

Macrostomia will be treated during the first two years of life. When a child has an ear anomaly, treatment is usually initiated around 7 years of age, through multiple surgeries. An absent or completely malformed ear may also be treated with implant bore auricular prosthesis. Nerve grafting and muscle transfers for facial reanimation procedures can be started between 6-8 years of age.

Treatment of hemifacial microsomia requires a multidisciplinary approach of skilled and experienced medical professionals. In our clinic, the team of craniofacial surgeons working closely together with our other experts can undertake and treat cases of this complex medical condition

Children born with microtia have a congenitally small, malformed or absent external ear. Microtia is also associated with an absent or narrowed ear canal resulting in significantly decreased hearing. Microtia is seen on one side (unilateral) 90% of the time. Only 10% of children born with microtia have the condition on both sides. Microtia is an uncommon condition, and the frequency of microtia in newborns varies in different countries. Only one in 8,000 to 10,000 children is born with microtia.

Microtia is a congenital deformity where the pinna (external ear) is underdeveloped, so the children have a congenitally small, malformed or absent external ear. A completely undeveloped external ear is referred to as anotia. Microtia is seen on one side in 90% of cases. 10% of children born with microtia have the condition bilaterally. Microtia is estimated to occur in 1 out of about 8,000–10,000 births.

There are four grades of microtia:

• Grade I: A smaller external ear with less than complete development with identifiable anatomical structures and a narrow external ear canal.
• Grade II: A partially developed external ear affecting mostly the upper part although the lower third may be normal, with a closed or narrow external ear canal and associated conductive hearing loss.
• Grade III: Grade III microtia is the most common form of microtia. It is characterized by undeveloped external ear remnants and an absence of the external ear canal and eardrum.
• Grade IV: Absence of the external ear and the canal (anotia).

For auricular reconstruction, there are several different options:

1. Rib Cartilage Reconstruction: It involves the use of cartilage harvested from the rib and sculpted as an ear framework to reconstruct the ear. The harvesting of the rib cartilage is done at an age that sufficient cartilaginous tissue can be provided from the rib cage of the child. (7-8 years of age). After harvesting the cartilages in several pieces, they are carved and pieced together to form the cartilaginous skeleton of the external ear. The ear framework is carved and inserted underneath a pocket of skin at the desired position. It remains for healing in this position for six months, so that blood supply to the cartilage is obtained.

The second stage involves rotation of the ear lobule and the creation of a tragus and conchal bowl.

The third stage involves uncovering the ear from the scalp pocket and placing a skin graft to cover the back of the ear. Another cartilage graft may be placed to define the projection of the ear at this stage better.

ADVANTAGES

• The body’s tissue is utilized and the patient has the feel of an autologous reconstruction.
• The cartilage framework will grow with the patient.
• In experienced hands, the patient may have a good, long-lasting result
• The ear can withstand the forces applied in everyday activities, most of the sports, etc

 

DISADVANTAGES

 

• The technique requires 2–5 surgeries. It is associated with increased overall costs, length of surgical interventions, possible complications and sometimes questionable esthetic result.
• In cases of delayed ear reconstruction, the psychological sequelae are not addressed, as the patient will grow through childhood and adolescence with a noticeable facial deformity.
• Cartilage removal requires hospitalization, leaves a permanent chest scar and may result in chest wall deformity.
• Canal surgery must be done after the ear is completely reconstructed, often delaying hearing restoration for a long time.
• The projection of the cartilage ears may not be sufficient, so quite often the opposite ear has to be operated for symmetry.

2. Reconstruction of the ear using a polyethylene (Medpor) implant: This method requires a 1–2 stage surgery that can start at age 3. Using the porous framework and the patient's own tissue flap, a new ear is reconstructed in a single surgery. The framework comes in two separate pieces, a base section and the helical rim which are made of compressed polyethylene beads. These two pieces must be assembled to match the shape and the predicted size and of the contralateral ear. A minimal second surgery may be performed in 3–6 months, for adjustments.

ADVANTAGES

• Reconstruction may be done at smaller age without the need for future surgery.
• Children with hearing loss may undergo canal reconstructions before or at the same time as the ear reconstruction.
• Decreased cost and operating room time comparing to cartilage grafts. Avoidance of chest incisions.
• Reconstruction may be completed in one surgery.
• It may be used by surgeons who have not the experience in carving ear framework out of cartilage.
• The reconstruction is designed to match the normal ear in size and projection avoiding the need to operate the normal ear. The result in experienced hands can be a natural looking ear.
• Polyethylene ears can withstand the forces of sports and physical activities.

DISADVANTAGES 

• The polyethylene framework is a foreign material.
• It will not grow, so its final size has to be pre-estimated.
• If there will ever be a laceration on the ear exposing the framework, there is a risk of infection, requiring complete removal of the framework. The same risk applies if the framework brakes and its pieces become exposed through the skin.
• The grafting material comes in one size and shape, thus limiting the “flexibility” of the reconstruction. Although some adjustments of the polyethylene can be performed intraoperatively, sometimes an otoplasty of the contralateral ear may be performed for symmetry.
• The outcome of the implant over a lifetime is not known, since polyethylene ear reconstruction began in the 90ties.

3. Ear Prosthesis: This method requires two minimal surgical procedures. During the initial surgery, two or three titanium implants are placed at the bone underneath the area of the malformed or absent ear. At the same time remnants of the malformed ear can be removed. The implants need to be left in place for three months, until the osseointegration process is completed. Following this period, a second minor surgical procedure is performed to uncover the implants and to thin the soft tissues around them. Healing caps are placed and the implants are ready to be loaded 15 days after the second stage surgery. The auricular prosthesis is made by an anaplastologist to mirror the normal ear. Prosthetic ears can be very esthetic. The anaplastologist takes an impression of the normal ear and by reversing it, the prosthetic ear is fabricated. The prosthesis requires a few minutes of daily care. It is typically made of silicone, which is colored to match the surrounding skin. Usually, two prostheses are given to the patient. One in a darker color for the summer and the other in a lighter color for the winter. The prosthesis has a certain insertion and removal vector, so that only the patient knows how to place and remove it. In this way, removal from another person is highly unlikely.

ADVANTAGES

• Two simple surgical procedures are required.
• No risk for major morbidity.
• Reasonable cost.
• Predictable result.
• Excellent esthetic outcome.
• Quick completion of the overall procedure.
• Favorable effort to benefit ratio.

DISADVANTAGES

• The feeling of a “foreign body part.”
• The need for daily care.
• The need to replace the prosthesis after some years

Should this method be the method of choice?

We believe that reconstruction with autologous material should be the ideal goal. The effort to improve the esthetic outcome with the traditional surgical procedures should continue. The advances in tissue engineering and genetics may also contribute in the future.

This method is an alternative to the traditional reconstruction and many times can be of paramount value. Rehabilitation of these patients aims mainly to the restoration of facial esthetics. For the time being, the prosthetic auricles serve this purpose perfectly.

Pierre Robin sequence is a congenital condition related to facial abnormalities. The main features of this condition are a cleft palate, micrognathia (underdevelopment of the jaw) and glossoptosis (posterior displacement of the tongue base causing airway obstruction). It is called a sequence to describe a condition that includes a series of deformities caused by a cascade of events initiated by a single malformation. The initial event, which refers to underdevelopment of the lower jaw (hypoplasia), occurs between the 7th and 11th week of gestation.

As a result the tongue remains high in the oral cavity, causing a cleft in the palatal vault. The deformation of the chin may be caused by oligohydramnios (decrease in the quantity of the amniotic fluid). Another theory supports the fact that an impaired innervation of the hypoglossal nerves may be responsible for this condition. A genetic cause to PRS was recently identified.

Mandibular hypoplasia is seen at birth. During the first year of life the mandible will continue to grow and by the age of six the retrognathia may be resolved. The combination of retrognathia and glossoptosis will cause profound respiratory and feeding issues to the newborn. Feeding problems will also be accentuated because of the palatal cleft.

Obstructive sleep apnea, otitis media (middle ear infections) occurring 80% of the cases, auricular anomalies in 75%, conductive hearing loss, in 60% of patients and inadequate pneumatization of the mastoid cavities, anomalies of the inner ear, dental malformations, laryngomalacia, gastroesophageal reflux and esophagitis, speech problems, velopharyngeal insufficiency and nasal deformities may be noted.

Systemic findings may be present as well: Ocular anomalies, cardiovascular findings, musculoskeletal system anomalies, central nervous system defects, genitourinary system defects have been associated with this condition.

Conservative management may be adequate for many cases. This refers to close monitoring of breathing and taking measures to facilitate babies with airway compromise. Prone position, oral airway application, laryngeal mask and short-term intubation have been used. Under the same conservative approach, care is taken to manage feeding issues. Feeding the baby in the upright position, adjusting the shape of the nipple for bottle feeding, nasogastric or orogastric feeding tubes, and gastrostomy may be utilized. The use of a pre-epiglottic baton plate, with a velar extension, brings the base of the tongue forward. This reliefs the airway obstruction, as well as facilitates feeding.

Surgical management may be necessary for babies with severe breathing and feeding problems and for those cases in which the conservative management had not contributed to addressing the problems. Tracheotomy is the most frequently used procedure that will ensure the potency of the airway. Other procedures such as glossopexy, lysis of tongue-lip adhesions, or subperiosteal release of the floor of the mouth can be performed. Mandibular distraction osteogenesis (gradual lengthening of the lower jaw) has been shown to improve the feeding and breathing abnormalities significantly.

Treacher Collins syndrome is a genetic disorder that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from unnoticeable to severe facial involvement and airway compromise. In severe cases, underdevelopment of the facial bones may affect the infant's airway, causing life-threatening respiratory problems. Most affected individuals have underdeveloped facial bones, particularly the zygomatic bones, and a very small lower jaw (micrognathia). The patient may present with a profound malocclusion, breathing and feeding problems. Some patients with this condition are also born with a cleft palate. The external ear is sometimes small, malpositioned, malformed, or absent. Conductive hearing loss is frequently diagnosed, caused by defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of the ear canal.

People with Treacher Collins syndrome often have eyes that slant downward, partial or complete absence of eyelashes, narrowing of the tear ducts and a notch in the lower eyelids called an eyelid coloboma. Some affected individuals have additional eye abnormalities like strabismus or anisometropia that can lead to vision loss. Eye dryness and frequent eye infections may also be present. Dental anomalies are seen in 60% of affected people, including congenitally missing teeth, discoloration, and spacing of the teeth. Dental anomalies are also a contributing factor to feeding problems. Sleep apnea may also be present. Patients with Treacher Collins syndrome usually have normal intelligence. This condition affects an estimated 1 in 50,000 people. A mutation in certain genes is the identified cause of this condition.

The treatment of this condition requires a multidisciplinary approach. If the lower jaw is severely affected then feeding and breathing problems must be addressed first. A tracheostomy may be necessary and placement of a gastrostomy tube may also be placed.

When a cleft palate is present, it should be treated before the age of 12 months. Hearing problems must also be treated early to avoid speech problems. These are usually treated with bone-anchored devices, or conventional hearing aids, which aim to improve bony conduction of sound.

The zygoma and orbit are best reconstructed at the age of 5-7 years along with the lower eyelid coloboma. The ear reconstruction is done after the age of 8 years.

It is not uniformly accepted when the best timing for orthognathic surgery of the maxilla and mandible is. Usually, the decision is based upon the severity of the condition and the most severe cases are treated earlier. The age when these procedures are performed ranges between 10 and 16 years.

Orthodontic and dental treatments are usually necessary to improve the appearance and the function of the dental arches.

If a nose correction is decided this is usually done at the age of 17-18 years, after the orthognathic treatment has been completed.

Many soft tissue corrections may be implemented in the treatment plan as well. These are usually performed at a later stage.

It is important to appreciate the role of psychological support, both to the patient and the family, to avoid issues of social integration and depression.