Cleft Lip and/or Palate:

Cleft Lip and Palate can occur together or individually. Cleft lips and/or cleft palate are caused by abnormal facial development during gestation.  A cleft is a fissure or opening—a gap. It is the non-fusion of the body's natural structures that form before birth. Approximately 1 in 700 children born have a cleft lip and/or a cleft palate. It has sometimes been equated with the phrase harelip, but this is considered deeply offensive, and is used incorrectly, as that term refers to the pulling of the lip towards the nose.

A cleft lip and palate deformity happens during the first six to eight weeks of pregnancy, the shape of the embryo's head is formed. When the tissues fail to meet, a gap appears where the tissues should have joined (fused).  Incidences of cleft have been reported to be the highest in Native Americans and Asians while the lowest incidences occur in Africans.  

If the cleft does not affect the palate structure of the mouth it is referred to as cleft lip. Cleft lip is formed in the top of the lip as either a small gap or an indentation in the lip (partial or incomplete cleft) or it continues into the nose (complete cleft). Lip cleft can occur as a one sided (unilateral) or two sided (bilateral). It is due to the failure of fusion of the mouth and nasal processes.

Pictured below are unilateral incomplete cleft(A) Unilateral Complete Cleft(B) and Bilateral Complete Cleft(C)

         
          A                         B                           C

Cleft palate is a condition in which the two plates of the skull that form the hard palate (roof of the mouth) are not completely joined. The soft palate is in these cases cleft as well. In most cases, cleft lip is also present. Cleft palate occurs in about one in 700 live births worldwide.

Palate cleft can occur as complete (soft and hard palate, possibly including a gap in the jaw) or incomplete (a 'hole' in the roof of the mouth, usually as a cleft soft palate). When cleft palate occurs, the uvula is usually split. It occurs due to the failure of fusion of the palate & the nasal septum.

The hole in the roof of the mouth caused by a cleft connects the mouth directly to the nasal cavity.

Pictured below are Incomplete cleft palate(A), Unilateral complete lip and palate (B), Bilateral complete lip and palate (C). The  images show the roof of the mouth. The top shows the nose, the lips are colored pink.

         
            A                            B                         C

A direct result of the open connection between the oral cavity and the nasal cavity causes a soft tissue as well as boney structure gap. Because of this gap air leaks into the nasal cavity which can cause breathing problems as well as eating problems. The first surgical procedures performed on an infant born with a cleft palate may or may not include a trach tube and a feeding tube depending on the severity of the defect.

Cleft lip and palate is very treatable; however, the kind of treatment depends on the type and severity of the cleft.

Most children with a form of clefting are monitored by a cleft palate team or craniofacial team through young adulthood. Care can be lifelong. Treatment procedures can vary between craniofacial teams. For example, some teams wait on jaw correction until the child is aged 10 to 12 while other teams correct the jaw earlier.

Within the first 2–3 months after birth, surgery is performed to close the cleft lip. While surgery to repair a cleft lip can be performed soon after birth, the often preferred age is at approximately 10 weeks of age, following the "rule of 10s" coined by surgeons Wilhelmmesen and Musgrave in 1969 (the child is at least 10 weeks of age; weighs at least 10 pounds, and has at least 10g hemoglobin). If the cleft is bilateral and extensive, two surgeries may be required to close the cleft, one side first, and the second side a few weeks later. The most common procedure to repair a cleft lip is the Millard procedure pioneered by Ralph Millard.

Often an incomplete cleft lip requires the same surgery as complete cleft. This is done for two reasons. Firstly the group of muscles required to purse the lips run through the upper lip. In order to restore the complete group a full incision must be made. Secondly, to create a less obvious scar the surgeon tries to line up the scar with the natural lines in the upper lip and tuck away stitches as far up the nose as possible. Incomplete cleft gives the surgeon more tissue to work with, creating a more supple and natural-looking upper lip.

Often a cleft palate is temporarily closed, the cleft isn't closed, but it is covered by a a prosthetic device made to fit the roof of the mouth covering the gap.

Cleft palate can also be corrected by surgery, usually performed between 6 and 12 months. Approximately 20-25% only require one surgery to achieve a plate capable of producing normal, non-hypernasal speech. However, combinations of surgical methods and repeated surgeries are often necessary as the child grows. One of the new innovations of cleft lip and cleft palate repair is the Latham Appliance. The Latham is surgically inserted by use of pins during the child's 4th or 5th month. After it is in place, the doctor, or parents, turn a screw daily to bring the cleft together to assist with future lip and/or palate repair.

If the cleft extends into the maxillary alveolar ridge, the gap is usually corrected by filling the gap with bone tissue. The bone tissue can be acquired from the patients own chin, rib or hip.

Craniofrontonasal Dysplasia:

Craniofrontonasal dysplasia is a very rare X-linked disorder characterized by craniofacial abnormalities, grooved nails, intellectual deficit and various skeletal and soft tissue abnormalities. It occurs in less than 1/100,000 newborns. With females being more severely affected than males, a highly unusual characteristic for an X-linked disorder. The syndrome can be caused by mutations in the EFNB-1 gene. The risk that an affected female will pass the disease on her daughter or son is 50%. An affected male will pass the disease on to all of his daughters but none of his sons.

 Most of the males are mildly affected with hypertelorism(wide set eyes) only.  Females tend to have frontonasal dysplasia (widely-spaced eyes or hypertelorism, and a flat and broad nose with a vertical groove on the top of the nose), coronal craniosynostosis with brachycephaly and frontal bossing. The following facial abnormalities may be seen: microcephaly, facial asymmetry, downslanting palpebral fissures, dry, curly and frizzy hair, widows peak, low posterior hairline, webbed neck, highly arched palate, cleft lip and palate, malocclusion, abnormal auditory ossicles, and sensorineural deafness. Skeletal deformities may include sloping shoulders with dysplastic clavicles, broad first toes, short first fingers, brachydactyly, clinodactyly, gaps between the first and second toes, long fingers and toes, syndactyly, polydactyly, camptodactyly, scoliosis and hyperextensible joints.

Surgical correction of the craniosynostosis will be required in infancy and the correction for the facial hypertelorism is delayed until the age of 5 when the child becomes aware of the deformity.

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Fibrous dysplasia is a condition of the skeleton (bones). It is a BIRTH DEFECT that is non-cancerous disease. It is not hereditary so a child does not get it from his/her parents nor will he/she pass it along to his/her children. It is usually detected in early childhood as a result of swelling of the jaw. In some cases Fibrous dysplasia may cause the teeth to separate. It is a progressive disease that continues to worsen as the bones finish growing, normal bone is replaced by various amounts of structurally weak fibrous and osseous (bone-like) tissue. In normal bone formation, woven bone appears first and later matures into lamellar bone. In fibrous dysplasia, bones do not mature and development stops at the woven bone stage.  Fibrous dysplasia can occur in the bones in front of the head and/or sphenoid bones  that are situated at the base of the skull, if this happens, it can eventually lead to deformation of facial features and effect the shape of the skull.

There are three types of fibrous dysplasia;                                                                                                                                

Monostotic disease, is the most common type of fibrous dysplasia, occuring in 70% of cases. Monostotic simply means involving one bone. It most often occurs on the long bones such as the femur (thigh bone), ribs and skull.

                                                                                                                                   Polyostotic disease, affects 30% of patients. Polyostotic means occuring in more than one bone. The head and neck are involved in half of these patients.

                                                                                                                                 The third is "McCune-Albright syndrome." It only occurs in 3% of cases. It is characterized by polyostotic fibrous dysplasia occuring in more than one bone; skin pigmentation; and in females; early puberty.

                                                                                                             Skull involvement occurs in 27% of momstotic and up to 50% of polyostic patients. Fibrous dysplasia involving the face and the skull is called "Leontiasis ossea". Without treatment, one or more bones progressively increase in size, and move into the cavities of the eye, mouth, and/or the nose and it's sinuses. Also, abnormal protrusion of the eyeball may develop and eventually cause complete loss of sight because it presses on the optic nerve. In addition there may be interference of the nasal passage and with eating. When fibrous dysplasia of the frontal (forehead bone) and/or sphenoid (bone at the base of the skull) bones progresses, these bones become thick and dense. This increase in size eventually causes the facial features and skull to become misshapen. In these cases more than one bone is usually involved. It can also result in cranial nerve problems. If the temporal bone is affected, the patient may suffer as much as 80% hearing loss when the inner ear canal narrows. It may also cause facial nerve paralysis or dizziness. However, any of our 12 cranial nerves can be involved with fibrous dysplasia. The more common results could include cranial nerve problems, and sight and hearing loss. Physicians decide on treatment options after assessing a patients symptoms. First the doctor observes the patient. Then he will consider conservative treatment such as surgically shaving or removing the fibrous tissue. In more severe cases the doctor may recommend complete removal of the bone.

Surgery is used to return the face to it's normal structure and/or to relieve effects when a cranial nerve is being pinched. In these cases the abnormal bone must be completely removed. It is best to wait until adolescence for surgery. However, if the progression of the disease affects nerve function, a decompressive procedure should be considered early in childhood to keep normal function. Sometimes the fibrous tissue can be completely removed successfully by a single procedure. However. most fibrous tissue can be managed through staged procedure with overall very favorable results and good long term prognosis.

Hemangiomas are one of the most common birthmarks in newborns. Most hemangiomas are not present at birth but develop within the first few weeks to months of life. They are found in up to 10 percent of babies by the age of one.

The cause of hemangiomas is unknown. In very rare instances they may run in families, but in general they are not inherited. For a parent with a child with this birthmark, there is no increased risk of having a subsequent child with a hemangioma. Hemangiomas are the most common benign tumors of infancy & are 5 times more common in girl babies than boys.  Light skinned people are more often affected than those with a darker complexion, and they are also more commonly seen in premature infants. Most hemangiomas are present at birth and become apparent within the first month of life. They occur on the face, head, and neck area in over 80% of cases. The current thought is that hemangiomas develop from cells that cross from the placenta into the baby, become lodged, and grow.

Once the hemangioma appears it grows for up to 18 months. Often they will not grow past 6-8 months and then they begin a slow process of regression or involution. The process of involution is variable and can last for over 10 years in some patients. 

Some of the treatments available are: 

Cortisone: Injected into the hemangioma or given orally by mouth. If given orally for prolonged periods has side effects including increased risk of systemic infection, high blood pressure, diabetes, increased appetite, stomach irritation, growth suppression, etc.

Pulsed Dye Laser Therapy: This therapy treats the superficial blood vessels best. If this treatment is recommended it is usually reserved for the superficial component of hemangioma, characterized by a flat, red lesion. It is usually administered in a series of laser treatments spaced 2-4 weeks apart.

Antibiotics: If the hemangioma is infected and open it may be treated with a short course of antibiotics and daily wound cleansing.

Alpha Interferon: This therapy is limited to the most severe and potentially life threatening hemangiomas. It involves administering systemic medication via daily shots, usually into the leg, for several months. It is usually given to the baby by the parents under physician direction and supervision. This therapy has serious potential side effects including neurologic effects, blood abnormalities and others.

Surgical removal: In rare instances, hemangiomas may be surgically removed especially if they are not likely to resolve spontaneously or lead to significant tissue distortion and deformation.

There is some controversial thought about treatment of Hemangiomas. Many patients have been taught that if they leave the birthmark alone it will "go away." However, all hemangiomas will regress in some degree but most will not involute to a cosmetically acceptable level.

According to the Hemangioma Treatment Foundation:  In general, more than half of patients with a facial vascular lesion who wait more than 5 years will end up having some surgical or laser intervention because the result is not acceptable.

Their philosophy is, "If we can get a result now that is at least as good as if we waited 5 years then why not do it now?" The time can be used for touch up procedures, scar maturation, etc.

Facial Palsy:

Facial Palsy is a congenital deformity that dates from birth, or an acquired deformity, which causes complete or partial paralysis of the facial motion. The act of facial motion starts in the brain and travels through the facial nerves to the muscles in the face. These muscles then contract in response to a stimulus. Inside the skull, the facial nerve is a single nerve. Once the nerve is traced outside the skull, it branches into many smaller limbs that go to many different facial muscles. These muscles control facial expression. The coordinated activity of this nerve and these muscles cause motions such as smiling, blinking, frowning, and a full range of normal facial motions. Diseases or injuries affecting the brain, the facial nerve, or the muscles of the face can cause facial palsy.

You are NOT ALONE:

Regardless if you are an adult facing Facial Disorders or the parent of a child recently diagnosed there is always a place to turn. You will find a full list of support websites  listed on my Support Page. Below are a few that are specific to the conditions I have discussed on this page.

Operation Smile

Ameriface

Forward Face Inc.

MUMS

Hemanigioma Treatment Foundation

Facial Palsy Website

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