This is a newborn infant male born to a 29 year old G6 P4 A1 mother at 38 weeks gestational age via vaginal delivery with Apgar scores of 8 and 9 at 1 and 5 minutes, who is noted to have complete left cleft lip and palate.

Exam: He is alert and active in no distress. His head shape is normal with a flat anterior fontanelle. There is clefting of the left upper lip, extending across the alveolar ridge and all the way back into the palate. The uvula is cleft (bifid). His eyes and ears are normal. His neck, heart, lungs, abdomen and extremities are normal.

This infant has some difficulties in feeding initially, which resolve upon use of a cleft palate nipple. Weight gain is a bit slow over the first few weeks of life, but it then improves, following the growth chart.

Clefting of the lip and palate is caused by incomplete fusion of the lateral elements in utero. Normally, during embryogenesis, there is migration of the elements from the side to join in the midline. When this process is interrupted, a cleft results. Pressure from the tongue pushes the palatal shelves up into the nose, moving them away from each other, making the palatal cleft wider. Loss of the muscle activity from the lip (because it does not form a complete band) allows the anterior portion of the palate to drift sideways and open the lip cleft. The cleft in the lip can vary in width from a small notch to a complete division all the way into the nose. In a complete cleft, the lip is completely split into two parts, with a resulting division under the nasal opening on one or both sides. In an incomplete cleft, there will still be some lip tissue under the nasal opening; this is known as the nostril sill. Clefts can be unilateral or bilateral. Isolated clefting of the lip does not cause much functional problem, but makes social adaptation of the baby more difficult.

Clefting of the palate also varies in degree. The most mild form involves clefting of the uvula. This can be associated with "submucous" clefting of the soft palate, where there is failure of fusion of the palatal musculature in the midline. Most infants with this aberrant muscle anatomy learn to compensate. Speech develops normally and the clefting goes undetected. When speech is abnormal, the diagnosis is made by observing a lack of fullness in the central soft palate. It looks thinner and paler in the anterior-posterior direction (the "translucent midline raphe"), and gentle pressure with a cotton tipped applicator will confirm that there is only thin mucosal tissue.

Cleft lip and palate is a relatively straightforward diagnosis to make. Usually it is an isolated condition, but, like all congenital defects, it may be associated with other abnormalities due to environmental factors, intrauterine events or genetic syndromes. The most important of these is Pierre Robin sequence (the new name is "sequence" instead of syndrome because all of the associated anomalies can be explained as consequences of the initial event which is a hypoplastic mandible), where poor development of the mandible (micrognathia) leads to a lack of room for the tongue to fit in the mouth. The tongue, then pushes up the palate, and prevents fusion of the two palatal shelves. The child has trouble breathing due to the small oropharynx, and treatment requires early intervention to keep the tongue from obstructing the airway. Other syndromes associated with cleft lip/palate include Treacher-Collins syndrome, and other syndromes of genetic inheritance of the cleft. These are important for genetic counseling of the child and family.

The goals of management are to achieve normal appearance and normal function. The most important functional goal is to achieve normal speech. Timing here is very important, because there is a window for speech development from about 6 months to about 30 months of age. Normal speech cannot develop if the cleft palate is not repaired, because air from the mouth escapes through the nose and prevents normal sound development. Earlier repair of the cleft palate permits better development of normal speech. If repair is delayed, the child will develop speech habits (compensatory articulations) that will have to be "unlearned" later.

The goals of cleft lip repair are: to get a normal looking lip and to restore the continuity of the lip musculature. This is especially important when the cleft is bilateral. In bilateral clefts, the central portion of the lip (prolabium or premaxillary segment) is not attached to the lateral portion of the lip on either side. Thus, it tends to grow outward and away from the lateral segments, which then tend to collapse medially. Attachment of the lip to close the cleft then creates a band of lip tissue which restrains this forward growth of the central portion. In addition, clefting of the lip is almost always associated with abnormal shape and location of the nasal cartilages. This can be addressed at the time of initial repair, but growth of the cartilage is usually disturbed and final correction will have to be done as a teenager.

Thus, a typical sequence for cleft lip/palate repair is as follows: a) First repair of cleft lip at about 3-6 months of age (when the child is 5 kg or so). b) First stage of cleft palate repair at about 12 months. Additional repair of cleft lip and or palate at 18 months or so. c) If speech is abnormal, possible procedure to correct velo-pharyngeal incompetence. d) Repair of alveolus to permit normal development of adult dentition at the time when adult incisors are beginning to erupt ("mixed dentition") at age 8-10 years. e) Repair of cleft nose deformity as a teenager.

The prognosis for a child with unilateral cleft lip and palate is generally good. They usually learn to take bottle feedings easily with a cleft palate nipple, and learn to control the escape of fluids through the nose. Speech development can sometimes be problematic, requiring speech therapy. Poor function of the muscles of the soft palate can cause blockage of the Eustachian tubes, and frequent ear aches and otitis media.

There are several other, less common syndromes associated with growth abnormalities. There can be failures of growth and union of other facial bones, leading to a variety of rare facial clefting syndromes. Malformation of the branchial arches can also cause malformation patterns, the most common of which is Treacher-Collins syndrome, an autosomal dominant mandibulofacial dysostosis with zygomatic and mandibular hypoplasia and associated orbital anomalies. Down's syndrome is also associated with characteristic facial malformations, although these are mild and of secondary concern.

In addition, there can be problems of growth of the cranial bones, leading to funny shaped skulls. If the suture lines of the skull fuse prematurely (synostosis), then the bones cannot grow at this suture line, and the skull cannot grow in this direction. If the sagittal suture is involved (the most common), the skull cannot grow and separate across this line, so instead the skull becomes long rather than wide (scaphocephaly) in order to accommodate the growing brain. If the metopic (anterior forehead) suture is involved, this leads to trigonocephaly, with narrowing of the distance between the eyes. If both coronal sutures are involved, the head cannot grow in an anterior-posterior direction, and there is compensatory sideways growth leading to a skull that is shallow and broad (brachycephaly). Fusion of the lambdoid sutures causes flattening of the back of the head for similar reasons. Imbalanced or combined suture problems can result in a variety of other plagiocephalies - literally meaning "funny shaped skull". Reshaping of the skull can be accomplished by surgically opening the involved suture.

The brain is usually able to grow normally if only one suture is involved, compensating by increased growth along the other sutures without increase in intracranial pressure. This is more difficult when more than one suture is involved, causing more pressure on the growing brain. In Crouzon's Disease, a cranial synostosis is combined with exorbitism and midface retrusion ("froglike facies") in an autosomal dominant disorder. A similar disorder with hand syndactyly is called Apert's syndrome. Both require extensive surgery for repair.

Questions

1. In the newborn nursery, the mother of a child with a cleft lip and palate typically has a lot of concerns and will ask about the following. What do you tell her?

a. What caused the cleft lip?

b. Was there anything that she did or took in her early pregnancy that could have caused this, before she knew that she was pregnant?

c. What about feeding the baby and can she breast feed?

d. What surgeries the baby will need, and when?

e. If they have another baby, what are the chances that the next baby will have a cleft lip? What about the babies' children?

2. Why do cleft palate children develop more ear aches?

3. Why do cleft palate children have trouble with speech development, and what can be done to minimize this?

References

1. McCarthy J (ed). Plastic Surgery - Vol. 4: Cleft lip and Palate and Craniofacial Anomalies. 1990 Philadelphia: W.B. Saunders Company, pp. 2437-3174.

2. Pictures of various clefts before and after repair: http://www..hopeforkids.com/body_cleft_lip[1].html

3. Home page of British Cleft lip and palate association, general information: http://www.clapa.com/

4. A general discussion of cleft lip and palate and the surgeries to repair it with diagrams: http://www.plasticsurgery.org/surgery/cleftlp.htm

5. For a nice discussion on feeding of the baby: http://www.samizdat.com/pp7.html

6. "To The Parents Of An Infant Born With A Cleft Of The Lip And/Or Palate: Guidelines For Care": http://www.samizdat.com/pp8.html

7. Discussion and pictures of other craniofacial deformities: http://www.craniofacial.net/

Answers to questions

1a. The clefting is caused by improper migration of the lateral lip segments in utero. This is a complex process, and sometimes it malfunctions.

1b. Probably not, and reassurance is the best treatment as the parents will inevitably feel some guilt. For future pregnancies, good nutrition (especially folic acid) and avoidance of toxins (alcohol, cigarettes, drugs, medications, environmental) are helpful. For further discussion, see http://www.cleft.net/reduce.

1c. The parents will probably need help in learning how to feed their baby, since the baby has less ability to create suction. Making a larger opening in the nipple, and using a broad nipple can help - the baby can get milk by compressing the nipple with the tongue rather than sucking. Breast feeding is possible, but more difficult. For a nice discussion of this, see http://www.samizdat.com/pp2.html

1d. The surgeries involve repair of the lip in the first year, repair of the cleft palate at about age 1, repair of the alveolar cleft at 6-10 years, and repair of the cleft nasal deformity as a teenager, after growth is complete. Each of these may involve one major operation, and perhaps one or more refinement operations if desired.

1e. The incidence of cleft lip in the general population is about 1:750. This approximately doubles for each affected family member, so the next baby would have about a 1:375 chance of having a cleft. For more precise evaluation, consultation with a genetic counselor is recommended.

2. In cleft palate, the muscles of the soft palate (levator palatini) are incorrectly aligned: they cannot cross the midline as they normally do. Thus, contraction of these muscles does not pull on the Eustachian tube to open it up, and the ears remained "plugged", causing serous otitis which then can get infected and cause otitis media.

3. Because of the clefting of the palate, the children cannot build up air pressure in the mouth (the air escapes into the nose). Thus, they cannot properly form the sounds which require increased air pressure (b, p, t, k, g, v, and s). As they try to learn to speak, they substitute other sounds for the ones that they cannot make ("compensatory articulations"). As they get older, it becomes increasingly difficult for them to unlearn these habits, so repair of the cleft palate should be done prior to speech development if possible. In addition, hearing is often slightly impaired, as noted above.