Pearls

Repair of a cleft lip as early as 2 weeks of age can now be done.

Orofacial clefts are one of the most common congenital anomalies in the US.

Are there medication exposures or nutritional deficiencies associated with clefts? Isotretinoin (Accutane), which has a black box warning for pregnant women, can increase the rates of clefts. Folate and B12 deficiencies have also been linked to increased rates of clefts and folate supplementation may have a protective effect.

There are at least 275 syndromes that have orofacial clefting as a primary feature.

If a child just has a cleft lip and is otherwise healthy, genetics may not need to be involved. If a child has a cleft lip-palate, a child will see genetics as part of the greater craniofacial team as there are more commonly associated genetic findings.

What is the average incidence of cleft lips? If a mom and dad do not have a cleft, the incidence of a first child having a cleft is about 1/700. In this same family, if the first child has a cleft, the incidence can increase by 15-20% for the second child. Diet, environment, and prenatal events also play a role and can alter these numbers. Also, if a parent has a cleft, the percentages of the child being affected increases. If there is a family history of clefts, involving a geneticist is useful, especially for subsequent pregnancies.

What factors contribute to cleft lip and palate? Genetics, prenatal care, diet and environment all contribute to these conditions. There is significant variation in cleft rates across different countries and races. While the physiology of what causes clefting is known, the “on-off” mechanism hasn’t been traced to one entity.

In May 2017, the AAP put out an article titled “The Primary Care Pediatrician and the Care of Children with Cleft Lip and/or Cleft Palate.” This clinical report addresses the multidisciplinary approach needed to care for these children and addresses the psychosocial component, too.

Editor’s note: Retinoic acid (vitamin A) derivatives are extremely teratogenic in humans. The critical exposure period is cited as between the 2nd to 5th week of gestation, before many women know they are pregnant. Therefore, women of childbearing age should be aware of these side effects prior to initiation of vitamin A derivatives. A nice summary can be found here.

When are clefts diagnosed? 85-95% of clefts can be diagnosed on prenatal ultrasound; they can be first seen around 4-5 months gestation when oral-facial development progresses. Small or incomplete clefts may be missed. While ultrasound, especially 3D ultrasound is very good at picking up cleft lips, cleft palates may be missed. Even postnatally, a report from the UK describes 16% of cleft palates undetected on first exam. The AAP even makes a specific statement to visualize and document the palate during the initial newborn exam in the birth hospital.

A Habel et al. Delayed detection of cleft palate: an audit of newborn examination. Arch Dis Child. 2006 Mar; 91(3):238-240. PMC2065953

When do families usually reach out for repair options? As most clefts are diagnosed prenatally, many families are preparing for the this prior to the baby's birth. While referrals come from maternal fetal medicine doctors, in Hammoudeh’s experience, expectant families reach out to him on their own sometime during the 3rd trimester to understand the options for repair.

How do you counsel expectant families? Hammoudeh reminds families that clefts are the among the most common congenital anomalies in the US and offers reassurance that it was nothing the family “did”.

What medical problems are associated with clefts? For children with cleft lip and palates, there is a higher risk of chronic otitis media because of the open connection between the eustachian tubes and the clefting. For this reason, at the time of lip repair, ENT will often prophylactically place PE tubes. Even if not tubes are placed, any child with a cleft palate should have an ENT evaluation.

In general, most children with cleft lip and palate who are otherwise healthy, will continue with few medical problems after repair of the clefts and PE tube placement.

When do clefts get repaired? The traditional paradigm for repair of cleft lip and palate is as follows: repair the lip between 3-6 months of age, repair the palate at 12 months of age at the time of speech development. A pharyngeal plasty may also be needed around 6 years of age. Some of these patients go on to need an alveolar bone graft anytime between 8-11 years of age. A subset of those patients will need jaw operations performed between 15 to 18 years old. Given the chronicity, patients with cleft lip and palate should be connected to a craniofacial team.

This was the original paradigm set in the 1950s by Dr. Millard. He and his team created the “rule of 10’s” - a child needed to be at least 10 weeks old, have a hemoglobin of 10 and a white blood cell count of 10 to be considered for a repair. In the last five years, this paradigm has been called into question.

Using the data on fixing floppy ear deformities in children in the neonatal period, Hammoudeh and his team sought IRB approval to study early repairs of cleft lips.

To fix ear wells, plastic surgeons can tape the ear back and put a little mold on it - this configures the cartilage to make it looks like normal ear. This can be done without surgery.



This can be done because maternal estrogens are still elevated. TGF-beta, hyaluronic acid and glycosaminoglycans are still forming and make for fairly easy molding





This data in combination with nasal alveolar molding data was used to support the early repair of cleft lips.

How early can cleft lips be repaired in 2017? Because of the above rational, Hammoudeh repairs cleft lips at 2-3 weeks of age. The outcomes have been very positive. For one, the cartilage in the nose forms very well and the lip repair looks better. There is also a psychosocial element to having the lip repaired early. Hammoudeh’s approach is summarized here.