A craniofacial disorder refers to an abnormality of the face and/or the head. Craniofacial differences can result from abnormal growth patterns of the face or skull, which involves soft tissue and bones. A craniofacial condition may include disfigurement brought about by birth defect, disease or trauma.

Cleft Lip and Cleft Palates

A cleft is a separation in a body structure. Clefts that occur in the oral-facial region often involve the lip, the roof of the mouth (hard palate) or the soft tissue in the back of the mouth (soft palate). Two major types of oral-facial clefts are cleft lip/palate and isolated cleft palate. Babies with cleft lip/palate have a cleft lip which usually is accompanied by cleft palate. In isolated cleft palate, the cleft palate occurs by itself, without cleft lip or other malformations. These two forms of oral-facial clefts are considered separate birth defects. Here we refer to each specific type of cleft by name, and use the term oral-facial cleft when the information applies to both.

There also are about 400 syndromes in which babies have some form of oral-facial cleft along with a wide variety of other birth defects. The diverse problems of these babies are not described here. 

 

 

Diagram

     

Facial Cleft is a rare condition in which there are areas of absent bone and sometimes overlying skin that may occur either on one or both sides of the face.

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.

Feeding a baby with a Cleft Palate

Babies with cleft lip usually do not have much trouble feeding, although those with cleft lip accompanied by cleft palate as well as those with isolated cleft palate sometimes do. A cleft in the roof of the mouth makes it difficult for the baby to suck forcefully enough to draw milk through a nipple. Some babies also have problems with gagging, choking, or milk coming out through the nose while feeding. To make feeding easier, some doctors recommend using a small plastic plate called an obturator that fits into the roof of the mouth and blocks the opening while feeding.

It is possible to breastfeed some infants with cleft palate, although this requires extra patience and modification of techniques. Breastfeeding is more likely to be successful in babies with less severe clefts.

Most cleft palate teams pay close attention to feeding and help parents establish good feeding practices right after the child is born in order to keep problems to a minimum.

** Information was provided by the American Cleft Palate Association http://www.cleftpalate-craniofacial.org/

Additional Craniofacial Conditions

Craniosynostosis

Craniosynostosis means fused bones of the skull. It is a condition that some children are born with or later develop. To better understand craniosynostosis, it is helpful to know that our skulls are not made up of one single "bowl" of bone. Instead, different bones that fit together like a jigsaw puzzle make up the skull. The areas where the bones meet one another are called sutures. As a baby grows the brain rapidly increases in size. According to current theories of growth, the growing brain pushing on the bones of the skull causes the skull bones to expand or grow. When one of these sutures is fused too early, it is called craniosynostosis. There will be no growth in this area. This inability to grow in one area may lead to overgrowth in another area. This results in an abnormally shaped skull.

Multi-suture craniosynostosis

Multi-suture craniosynostosis include Apert, Crouzon, Pfieffer and Saethre-Chotzen Syndromes. In the case of multi-suture craniosynostosis more than one suture is prematurely fused.

Apert syndrome is a condition involving abnormal growth of the skull and the face. Children with Apert's have bulging eyes that are usually wide-set and tilted down at the sides. They usually have problems with teeth alignment due to the underdevelopment of the upper jaw. Some have cleft palate. Among other anomalies, children with Apert syndrome have webbed fingers and toes. Crouzon syndrome is a condition in which sutures in the head are prematurely fused resulting in abnormal growth of the skull and face. Children with Crouzon's have bulging eyes due to abnormal growth of the mid-face. They may have a receding upper jaw and protruding lower jaw. They may have problems with teeth due to abnormal jaw growth.

Pfeiffer syndrome is a condition in which certain sutures are fused prematurely. There is a high forehead, and the top of the head may appear pointed. The middle face appears flattened, the nose is small and has a flattened appearance, eyes are widely spaced, and the upper jaw is underdeveloped, which causes the lower jaw to appear prominent. The thumbs and big toes have a broad appearance and teeth are often crowed.

Saethre-Chotzen syndrome is a condition in which more than one suture is fused prematurely causing irregular head growth. Eyelids are droopy while eyes are widespread and appear bulging and may be crossed. The upper jaw may be underdeveloped. The nose may appear "beaked" and the septum may be deviated; that is, the area between the nostrils is off center. Fingers are short and certain fingers may be fused. There may be a low hairline.

Frontonasal Dysplasia, also known as Median Cleft Face Syndrome, is a condition in which the nose has a flat, wide appearance, and the eyes may be wide-set There is a groove of varying degrees, which runs down the middle of the face across the nose. In some cases the tip of the nose is missing. A gap with extra folds of skin covering it may appear on the front of the head. Hemangioma is a non-malignant tumor that is made up of rapidly growing endothel or vascular cells.

Hemifacial Microsomia/Goldenhar Syndrome is a condition in which the lower half of one side of the face does not grow normally. The most obvious sign of this condition is a partially formed ear or total absence of an ear. In goldenhar syndrome benign growths of the eye (epibulbar dermoids) are present. Children with Goldenhar syndrome may also have neck problems, which are most commonly caused by a fusion or bony bridges between the bones of the neck.

Microtia/artresia - Microtia is an incompletely formed ear. It may be just a small ear, or other variations including having only a bump of tissue at the location where the ear should normally be found. Artresia is the closing or absence of an ear canal in the middle ear. Microtia and artresia can occur alone or together. They can also be associated with hemifacial microsomia. If both ears are affected Treacher Collins Syndrome may be involved.

Moebius Syndrome is characterized by a paralysis of the 6th and 7th cranial nerves, resulting in a lack of facial expression, lack of lateral eye movement and lack of blinking. (Children with this syndrome do not have a smile).

Miller Syndrome is very rare condition characterized by downward slanting eyelids, cleft palate, recessed lower jaw, small cup shaped ears, and a broad nasal ridge. Anomalies include shortened and bowed forearms, incompletely developed ulna and radius bones in the arms, missing or webbed fingers and toes, and abnormal growth of the tibia and fibula bones in the lower legs. Occasional anomalies include heart defects, lung disease from chronic infection, extra nipples, stomach or kidney reflux, undescended testicles in males, dislocated hips, and difficult vein access.

Nager Syndrome is a condition in which the facial characteristics include downward slanting eyelids, absence or underdeveloped cheekbones, a severely underdeveloped lower jaw, malformed outer and middle ears, clefting of the hard or soft palates, absence of lower eyelashes and scalp hair extending on the cheek. Upper limb defects include underdeveloped or missing thumbs and occasional absence of the radial limb.

Pierre Robin Syndrome is a condition in which the lower jaw is abnormally small. There are also problems with the tongue falling backward toward the throat. In these patients a cleft lip and a cleft palate may or may not be present.

Treacher Collins is a condition in which the cheek bones and jawbones are underdeveloped. Children with this condition have very small or partially absent cheek bones and notches in or stretching of the lower eyelids. The ears are frequently abnormal and part of the outer ear is usually absent. Hearing loss is also associated with this syndrome.