Facial cleft
Encyclopedia
A facial cleft is an opening or gap in the face
, or a malformation of a part of the face. Facial clefts is a collective term for all sorts of clefts. All structures like bone, soft tissue, skin etc. can be affected. Facial clefts are extremely rare congenital anomalies. There are many variations of a type of clefting and classifications are needed to describe and classify all types of clefting. Facial clefts hardy ever occur isolated; most of the time there is an overlap of adjacent facial clefts.
It is possible that facial clefts are caused by a disorder in the migration of neural crest cells.
Another theory is that facial clefts are caused by failure of the fusion process and failure of inwards growth of the mesoderm
.
A third theory is that genetics play a part in the development of facial clefts.
A fourth theory about the origin of facial clefts is amniotic bands.
In 1976 Paul Tessier
published a classification on facial clefts based on the anatomical position of the clefts. The different types of Tessier clefts are numbered 0 to 14. These 15 different types of clefts can be put into 4 groups, based on their position: midline clefts, paramedian clefts, orbital clefts and lateral clefts. The Tessier classification describes the clefts at soft tissue level as well as at bone level, because it appears that the soft tissue clefts can have a slightly different location on the face than the bony clefts.
and the nose, while Tessier number 14 comes between the nose and the frontal bone
.
) than number 1. Tessier number 12 is in extent of number 2, positioned between nose and frontal bone, while Tessier number 13 is in extent of number 1, also running between nose and forehead. Both 12 and 13 run between the midline and the orbit.
. Tessier number 3, 4, and 5 are positioned through the maxilla and the orbital floor. Tessier number 9, 10 and 11 are positioned between the upper side of the orbit and the forehead or between the upper side of the orbit and the temple
of the head.
Like the other clefts, Tessier number 11 is in extent to number 3, number 10 is in extent to number 4 and number 9 is in extent to number 5.
The combination of a Tessier number 6-7-8 is seen in the Treacher Collins syndrome
. Tessier number 7 is more related to hemifacial microsomia
and number 8 is more related to Goldenhar syndrome
.
. A primary cleft can occur in an early stage of the development of the face (17 mm length of the embryo). The developments arrests can be divided in four different location groups: internasal, nasal
, nasalmaxillar and maxillar. The maxillar location can be subdivided in median
and lateral clefts.
is caused by a development arrest before the union of the both nasal halves. These clefts are characterized by a median cleft lip, a median notch of the cupid's bow
or a duplication of the labial frenulum
. Besides the median cleft lip, hypertelorism
can be seen in these clefts. Also sometimes there can be a underdevelopment of the premaxilla
.
The treatment plan of a facial cleft is planned right after diagnosis. This plan includes every operation needed in the first 18 years of the patients life to reconstruct the face fully.
In this plan, a difference is made between problems that need to be solved to improve the health of the patient (coloboma) and problems that need to be solved for a better cosmetic result (hypertelorism).
The treatment of the facial clefts can be divided in different areas of the face: the cranial anomalies, the orbital and eye anomalies, the nose anomalies, the midface anomalies and the mouth anomalies.
.
The goal of the box osteotomy is to bring the orbits closer together by removing a part of the bone between the orbits, to detach both orbits from the surrounding bone structures and move both orbits more to the centre of the face.
The goal of the facial bipartition is not only to bring the orbits closer together, but also to create more space in the maxilla. This can be done by splitting the maxilla and the frontal bone, remove a triangular shaped piece of bone from the forehead and nasal bones and pulling the two pieces of forehead together. Not only will the hypertelorism be solved by pulling the frontal bone closer together, but because of this pulling, the space between the both parts of the maxilla will become wider.
A few possible treatment options are to reconstruct the nose with a forehead flap or reconstruct the nasal dorsum with a bone graft, for example a rib graft.
The nasal reconstruction with a forehead flap is based on the repositioning of a skin flap from the forehead to the nose. A possible downside of this reconstruction is that once you performed it at a younger age, you can’t lengthen the flap at a later stage. A second operation is often needed if the operation is done on early age, because the nose has a restricted growth in the cleft area. Repair of the alae (wing of the nose) often require the inset of cartilage graft, commonly taken from the ear.
. When the cleft involves the maxilla, it is likely that the impaired growth will result in a smaller maxillary bone in all 3 dimensions (height, projection, width).
contributes to a lower risk of a child being born with a facial cleft.
Syndromes
Face
The face is a central sense organ complex, for those animals that have one, normally on the ventral surface of the head, and can, depending on the definition in the human case, include the hair, forehead, eyebrow, eyelashes, eyes, nose, ears, cheeks, mouth, lips, philtrum, temple, teeth, skin, and...
, or a malformation of a part of the face. Facial clefts is a collective term for all sorts of clefts. All structures like bone, soft tissue, skin etc. can be affected. Facial clefts are extremely rare congenital anomalies. There are many variations of a type of clefting and classifications are needed to describe and classify all types of clefting. Facial clefts hardy ever occur isolated; most of the time there is an overlap of adjacent facial clefts.
Causes
The cause of facial clefts is still unclear. There are a few different theories about the origin of the clefts. The fact that there are multiple theories for the origin of the clefts doesn’t mean that only one of them is true. It’s possible that a cleft is caused by multiple factors.It is possible that facial clefts are caused by a disorder in the migration of neural crest cells.
Another theory is that facial clefts are caused by failure of the fusion process and failure of inwards growth of the mesoderm
Mesoderm
In all bilaterian animals, the mesoderm is one of the three primary germ cell layers in the very early embryo. The other two layers are the ectoderm and endoderm , with the mesoderm as the middle layer between them.The mesoderm forms mesenchyme , mesothelium, non-epithelial blood corpuscles and...
.
A third theory is that genetics play a part in the development of facial clefts.
A fourth theory about the origin of facial clefts is amniotic bands.
Classifications
There are different classifications about facial clefts. Two of the most used classifications are the Tessier classification and the Van der Meulen classification. Tessier is based on the anatomical position of the cleft and Van der Meulen classification is based on the embryogenesis.Tessier classification
In 1976 Paul Tessier
Paul Tessier
Paul Tessier was a French surgeon. He was considered the father of modern craniofacial surgery.-Biography:...
published a classification on facial clefts based on the anatomical position of the clefts. The different types of Tessier clefts are numbered 0 to 14. These 15 different types of clefts can be put into 4 groups, based on their position: midline clefts, paramedian clefts, orbital clefts and lateral clefts. The Tessier classification describes the clefts at soft tissue level as well as at bone level, because it appears that the soft tissue clefts can have a slightly different location on the face than the bony clefts.
Midline clefts
The midline clefts are Tessier number 0 and number 14. The clefts comes vertically through the midline of the face. Tessier number 0 comes through the maxillaMaxilla
The maxilla is a fusion of two bones along the palatal fissure that form the upper jaw. This is similar to the mandible , which is also a fusion of two halves at the mental symphysis. Sometimes The maxilla (plural: maxillae) is a fusion of two bones along the palatal fissure that form the upper...
and the nose, while Tessier number 14 comes between the nose and the frontal bone
Frontal bone
The frontal bone is a bone in the human skull that resembles a cockleshell in form, and consists of two portions:* a vertical portion, the squama frontalis, corresponding with the region of the forehead....
.
Paramedian clefts
Tessier number 1, 2, 12 and 13 are the paramedian clefts. These clefts are quite similar to the midline clefts, but they are further away from the midline of the face. Tessier number 1 and 2 both come through the maxilla and the nose, in which Tessier number 2 is further from the midline (lateralLateral
Lateral may refer to:*Lateral , an anatomical direction*Lateral canal, a canal built beside another stream*Lateral consonant, an ℓ-like consonant in which air flows along the sides of the tongue...
) than number 1. Tessier number 12 is in extent of number 2, positioned between nose and frontal bone, while Tessier number 13 is in extent of number 1, also running between nose and forehead. Both 12 and 13 run between the midline and the orbit.
Orbital clefts
Tessier number 3, 4, 5, 9, 10 and 11 are orbital clefts. These clefts all have the involvement of the orbitOrbit
In physics, an orbit is the gravitationally curved path of an object around a point in space, for example the orbit of a planet around the center of a star system, such as the Solar System...
. Tessier number 3, 4, and 5 are positioned through the maxilla and the orbital floor. Tessier number 9, 10 and 11 are positioned between the upper side of the orbit and the forehead or between the upper side of the orbit and the temple
Temple
A temple is a structure reserved for religious or spiritual activities, such as prayer and sacrifice, or analogous rites. A templum constituted a sacred precinct as defined by a priest, or augur. It has the same root as the word "template," a plan in preparation of the building that was marked out...
of the head.
Like the other clefts, Tessier number 11 is in extent to number 3, number 10 is in extent to number 4 and number 9 is in extent to number 5.
Lateral clefts
The lateral clefts are the clefts which are positioned horizontally on the face. These are Tessier number 6, 7 and 8. Tessier number 6 runs from the orbit to the cheek bone. Tessier number 7 is positioned on the line between the corner of the mouth and the ear. A possible lateral cleft comes from the corner of the mouth towards the ear, which gives the impression that the mouth is bigger. It’s also possible that the cleft begins at the ear and runs towards the mouth. Tessier number 8 runs from the outer corner of the eye towards the ear.The combination of a Tessier number 6-7-8 is seen in the Treacher Collins syndrome
Treacher Collins syndrome
Treacher Collins syndrome , also known as Treacher Collins–Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones. Treacher Collins syndrome is found in about 1 in 10,000 births, ....
. Tessier number 7 is more related to hemifacial microsomia
Hemifacial microsomia
Hemifacial microsomia is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible. It can occur on one side of the face or both. If severe it can lead to difficulties in breathing, obstructing the trachea and requiring a...
and number 8 is more related to Goldenhar syndrome
Goldenhar syndrome
Goldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch...
.
Van der Meulen classification
Van der Meulen classification divides different types of clefts based on where the development arrest occurs in the embryogenesisEmbryogenesis
Embryogenesis is the process by which the embryo is formed and develops, until it develops into a fetus.Embryogenesis starts with the fertilization of the ovum by sperm. The fertilized ovum is referred to as a zygote...
. A primary cleft can occur in an early stage of the development of the face (17 mm length of the embryo). The developments arrests can be divided in four different location groups: internasal, nasal
Human nose
The visible part of the human nose is the protruding part of the face that bears the nostrils. The shape of the nose is determined by the ethmoid bone and the nasal septum, which consists mostly of cartilage and which separates the nostrils...
, nasalmaxillar and maxillar. The maxillar location can be subdivided in median
Median
In probability theory and statistics, a median is described as the numerical value separating the higher half of a sample, a population, or a probability distribution, from the lower half. The median of a finite list of numbers can be found by arranging all the observations from lowest value to...
and lateral clefts.
Internasal dysplasia
Internasal dysplasiaDysplasia
Dysplasia , is a term used in pathology to refer to an abnormality of development. This generally consists of an expansion of immature cells, with a corresponding decrease in the number and location of mature cells. Dysplasia is often indicative of an early neoplastic process...
is caused by a development arrest before the union of the both nasal halves. These clefts are characterized by a median cleft lip, a median notch of the cupid's bow
Cupid's bow
Cupid's bow is a facial feature where the double curve of a human upper lip is said to resemble the bow of Cupid, the Roman god of erotic love...
or a duplication of the labial frenulum
Frenulum
A frenulum is a small fold of tissue that secures or restricts the motion of a mobile organ in the body.-In human anatomy:...
. Besides the median cleft lip, hypertelorism
Hypertelorism
Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits . In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal...
can be seen in these clefts. Also sometimes there can be a underdevelopment of the premaxilla
Premaxilla
The incisive bone is the portion of the maxilla adjacent to the incisors. It is a pair of small cranial bones at the very tip of the jaws of many animals, usually bearing teeth, but not always. They are connected to the maxilla and the nasals....
.
Nasal dysplasia
Nasal dysplasia or nasoschisis is caused by a development arrest of the lateral side of the nose, resulting in a cleft in one of the nasal halves. The nasal septum and cavity can be involved, though this is rare. Nasoschisis is also characterized by hypertelorism.Nasomaxillary dysplasia
Nasomaxillary dysplasia is caused by a development arrest at the junction of the lateral side of the nose and the maxilla, which results in a complete or non-complete cleft between the nose and the orbital floor (nasoocular cleft) or between the mouth, nose and the orbital floor (oronasal-ocular cleft). The development of the lip is normal.Maxillary dysplasia
Maxillary dysplasia can manifest itself on two different locations in the maxilla: in the medial or the lateral part of the maxilla.- Median maxillary dysplasia is caused by a development failure of the medial part of the maxillary ossification centerOssification centerThe first step in ossification of the cartilage is that the cartilage cells, at the point where ossification is commencing and which is termed an ossification center, enlarge and arrange themselves in rows....
s. This results in secondary clefting of the lip, philtrumPhiltrumThe philtrum , is a medial cleft common to many mammals, extending from the nose to the upper lip, and, together with a glandular rhinarium and slit-like nostrils, is believed to constitute the primitive condition for mammals in general...
and palate. Clefting from the maxilla to the orbital floor has also been reported. - Lateral maxillary dysplasia is caused by a development failure of the lateral part of the maxillary ossification centers, which also results in secondary clefting of the lip and palate. Clefting of the lateral part of the lower eyelid is typical for lateral maxillary dysplasia.
Treatment
There isn’t one kind of treatment for facial clefts, because of the large amount of variation in these clefts. Which kind of surgery is used depends on the type of clefting and which structures are involved. There is much discussion about the timing of reconstruction of bone and soft tissue. The problem with early reconstruction is the recurrence of the deformity due to the intrinsic restricted growth. This requires additional operations at a later age to make sure all parts of the face are in proportion. A disadvantage of early bone reconstruction is the chance to damage the tooth germs, which are located in the maxilla, just under the orbit. The soft tissue reconstruction can be done at an early age, but only if the used skin flap can be used again during a second operation. The timing of the operation depends on the urgency of the underlying condition. If the operation is necessary to function properly, it should be done at early age. The best esthetic result is achieved when the incisions are positioned in areas which attract the least attention (they cover up the scars). If, however, the function of a part of the face isn’t damaged, the operation depends on psychological factors and the facial area of reconstruction.The treatment plan of a facial cleft is planned right after diagnosis. This plan includes every operation needed in the first 18 years of the patients life to reconstruct the face fully.
In this plan, a difference is made between problems that need to be solved to improve the health of the patient (coloboma) and problems that need to be solved for a better cosmetic result (hypertelorism).
The treatment of the facial clefts can be divided in different areas of the face: the cranial anomalies, the orbital and eye anomalies, the nose anomalies, the midface anomalies and the mouth anomalies.
Treatment of the cranial anomalies
The most common cranial anomaly seen in combination with facial clefts is encephaloceleEncephalocele
Encephalocele, sometimes known by the Latin name cranium bifidum, is a neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal...
.
Encephalocele
The treatment of encephalocele is based on surgery to repair the bony gap and provide adequate protection of the underlying brain. The question remains if the external brain tissue should be put back into the skull or if it is possible to cut off that piece of brain tissue, because its claimed that the external piece of brain tissue often isn’t functional, with the exception of a basal encephalocele, in which the pituitary glad can be found in the mouth.Treatment of orbital / eye anomalies
The most common orbital /eye anomalies seen in children with facial clefts are coloboma’s and vertical dystopia.Coloboma
The coloboma which occurs often in facial clefts is a cleft in the lower or upper eyelid. This should be closed as soon as possible, to prevent drought of the eye and a consecutive loss of vision.Vertical orbital dystopia
Vertical orbital dystopia can occur in facial clefts when the orbital floor and/or the maxilla is involved in the cleft. Vertical orbital dystopia means that the eyes do not lay on the same horizontal line in the face (one eye is positionned lower than the other). The treatment is based on the reconstruction of this orbital floor, by either closing the boney cleft or reconstructing the orbital floor using a bone graft.Hypertelorism
There are many types of operations which can be performed to treat a hypertelorism. 2 options are: box osteotomy and facial bipartition (also referred to as a median fasciotomy).The goal of the box osteotomy is to bring the orbits closer together by removing a part of the bone between the orbits, to detach both orbits from the surrounding bone structures and move both orbits more to the centre of the face.
The goal of the facial bipartition is not only to bring the orbits closer together, but also to create more space in the maxilla. This can be done by splitting the maxilla and the frontal bone, remove a triangular shaped piece of bone from the forehead and nasal bones and pulling the two pieces of forehead together. Not only will the hypertelorism be solved by pulling the frontal bone closer together, but because of this pulling, the space between the both parts of the maxilla will become wider.
Treatment of nose anomalies
The nose anomalies found in facial clefts vary. The main goal of the treatment is to reconstruct the nose to get a functional and esthetic acceptable result.A few possible treatment options are to reconstruct the nose with a forehead flap or reconstruct the nasal dorsum with a bone graft, for example a rib graft.
The nasal reconstruction with a forehead flap is based on the repositioning of a skin flap from the forehead to the nose. A possible downside of this reconstruction is that once you performed it at a younger age, you can’t lengthen the flap at a later stage. A second operation is often needed if the operation is done on early age, because the nose has a restricted growth in the cleft area. Repair of the alae (wing of the nose) often require the inset of cartilage graft, commonly taken from the ear.
Treatment of midface anomalies
The treatment of soft tissue parts of midface anomalies is often a reconstruction from a skin flap of the cheek. This skinflap can be used for other operations in the further, as it can be raised again and transposed again. In the treatment of midface anomalies there are generally more operations needed. Bone tissue reconstruction of the midface often occurs later than the soft tissue reconstruction. The most common method to reconstruct the midface is by using the fracture/ incision lines described by René Le FortRené Le Fort
René Le Fort was a French surgeon from Lille remembered for creating a classification for fractures of the face...
. When the cleft involves the maxilla, it is likely that the impaired growth will result in a smaller maxillary bone in all 3 dimensions (height, projection, width).
Treatment of mouth anomalies
There are several options for treatment of mouth anomalies like Tessier cleft number 2-3-7 . These clefts are also seen in various syndromes like Treacher Collins syndrome and hemifacial microsomia, which makes the treatment much more complicated. In this case, treatment of mouth anomalies is a part of the treatment of the syndrome.Prevention
Because the cause of facial clefts still is unclear, it is difficult to say what may prevent children being born with facial clefts. It seems that folic acidFolic acid
Folic acid and folate , as well as pteroyl-L-glutamic acid, pteroyl-L-glutamate, and pteroylmonoglutamic acid are forms of the water-soluble vitamin B9...
contributes to a lower risk of a child being born with a facial cleft.
See also
Related articles- Ectrodactyly–ectodermal dysplasia–cleft syndrome
- Cleft handCleft handCleft hand, also known as lobster-claw hand or split hand, is a rare form of a congenital disorder in which the development of the hand is disturbed. It is a type I failure of formation – longitudinal arrest...
- Cleft lip and palate
Syndromes
- Treacher Collins syndromeTreacher Collins syndromeTreacher Collins syndrome , also known as Treacher Collins–Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones. Treacher Collins syndrome is found in about 1 in 10,000 births, ....
- Hemifacial microsomiaHemifacial microsomiaHemifacial microsomia is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible. It can occur on one side of the face or both. If severe it can lead to difficulties in breathing, obstructing the trachea and requiring a...
- Goldenhar syndromeGoldenhar syndromeGoldenhar syndrome is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch...