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?

Toni

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 as the palate forms in the sixth to 12th week after conception. At first, two mounds of tissue called the "lateral palatine processes" are 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 that his parents must ask the pediatrician:

1. Is there anything else wrong with my baby? Are you sure?
   
2. Can you tell if my baby's palate is otherwise normal?
   

A normal palate is important for speech, feeding and proper function of the eustachian tubes, which ventilate the middle ears. Thus, a child with an abnormal palate can be expected to have problems with feeding, eustachian-tube function and speech development. The severity of these problems depends on the severity of the palate abnormality, but here is how each problem could show up:

Feeding: When an individual swallows, the soft palate touches the back of the throat, thereby closing off the nasal cavity. If the soft palate is unable to do this, food may pass up into the nasal cavity. If feeding difficulties are sufficiently severe, the infant have poor weight gain and failure to thrive.

Eustachian-tube function: The eustachian tubes are structures of muscle and cartilage that connect the middle-ear spaces to the throat. These are the tubes you pull open when you "pop your ears." The muscles that open the eustachian tubes arise in the soft palate. In children with abnormal palates, these muscles are ineffective, and eustachian-tube dysfunction results. Such children may have frequent middle-ear infections, persistent middle-ear fluid, and hearing loss due to 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 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 ear, nose and throat specialist (ENT), would be a prudent plan.