The Medical Consumer's Advocate

The case of the missing uvula

 

Q: We just learned that my newborn nephew doesn't have a uvula. My sister-in-law is very upset, even though her doctor reassured her that it isn't a major problem. Are there special steps, concerns or conditions she needs to be aware of?

 

A: For most of us, the uvula is about as useful as an appendix. Thus, absence of the uvula in and of itself is not a cause for alarm. What worries me is whether your nephew’s absent uvula is an indicator of other problems that have not yet been diagnosed, or of problems yet to develop.

The uvula arises during palatal development; the palate forms in the 6^th to 12^th week after conception. At first, the lateral palatine processes are two mounds of tissue situated on either side of the embryo’s tongue. As the embryo’s head grows, the tongue pulls away from the lateral palatine processes, and the processes eventually fuse (grow together.) If they fail to fuse, the child is born with a cleft palate. Near-complete fusion results in a bifid (forked) uvula. Somewhat-less-than-complete fusion will result in a more fully split uvula and a shallow cleft of the palate. In other words, depending on the adequacy of fusion, the child could be born with anything from a normal palate and uvula to a fully cleft palate and absent uvula.

If your nephew’s uvula is being reported as absent, I worry that he may have either a deeply bifid uvula, or worse, a shallow cleft of the palate. Also, cleft palate often occurs in association with other congenital abnormalities (heart defects are an example, but the possibilities are myriad). Thus, there are two important questions which his parents must ask the pediatrician:

Is there anything else wrong with my baby? Are you sure?

Can you tell if my baby’s palate is otherwise normal?

A normal palate is important for speech, feeding, and Eustachian tube function. Thus, a child with an abnormal palate can be expected to have problems with feeding, Eustachian tube dysfunction, and speech development. The severity of these problems depends on the severity of the palatal abnormality, but here is how each problem could manifest:

Feeding: When an individual swallows, the soft palate touches the back of the throat, thereby "valving off" the nasal cavity. If the soft palate is unable to do so, nasal regurgitation may result. If feeding difficulties are sufficiently severe, the infant may manifest poor weight gain and failure to thrive.

Eustachian tube function: The Eustachian tubes are muscular/cartilaginous tubes which connect the middle ear spaces to the throat. These are the tubes you pull open when you "pop your ears." They thus ventilate the middle ear spaces. The muscles which open the Eustachian tubes arise in the soft palate; in children with abnormal palates, these muscles are ineffective, and Eustachian tube dysfunction is the result. Such children may have frequent middle ear infections, persistent middle ear fluid, and hearing loss due to either of these problems.

Speech: During the production of certain speech sounds, the soft palate touches the back of the throat, closing off the nasal cavity. If it fails to do so, the result is hypernasal speech (an abnormal degree of resonance), audible air escape from the nose during speech, and the inability to produce certain speech sounds.

My advice: even if the parents are reassured that everything else is just fine, they would do well to maintain a high degree of vigilance for the above problems. Feeding difficulties would be the first noticeable problem, but ear infections could occur fairly early, too. If such problems arise, prompt re-evaluation by the pediatrician, followed perhaps by consultation with an ENT, would be a prudent plan.

 

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