I have a three-year-old niece who has been told she has a split uvula. The physician says it is nothing to worry about. My concern is that she also has abducted thumbs, far apart, and crooked teeth, did not walk until she was 22 months and still walks on her tiptoes most of the time. She also has a flat bridge of the nose and forehead. I seem to remember hearing someplace about a syndrome that involved many of these signs.

T.

I define a syndrome as a collection of abnormalities that occur together, owing to one single causal factor.

Now, most folks probably consider syndrome to be synonymous with genetic syndrome, but there are many syndromes (such as fetal alcohol syndrome) that are not genetic in origin. This is an important point: If a condition has a genetic basis, then the parents need to be concerned about the possibility of conceiving other children with the same condition, and the child may one day be faced with the same concerns. If, on the other hand, the syndrome is due to some environmental factor (e.g., maternal alcohol consumption causing fetal alcohol syndrome), then often behavioral change (abstinence from alcohol, in this example) will prevent the conception of other children with this syndrome.

Thus, correct diagnosis of a syndrome is absolutely necessary if one is to prognosticate. "Prognosticate" means, in this context, to answer many questions about the future: What are the chances that my next child will have this problem? What future health problems will this child have? Will she have any learning problems? Will her children be okay?

To make a correct diagnosis, your niece's parents must take her to a medical geneticist. Medical geneticists are trained to evaluate a child for dysmorphologic features (abnormalities of form, which may often be quite subtle), order appropriate tests to confirm a suspected diagnosis and counsel the parents accordingly.

What about your niece's split uvula (known in the biz as a "bifid uvula")? This may or may not be a problem. Some children with bifid uvula have a related problem known as submucous cleft palate. In this condition, there is a lack of muscle tissue in the midline of the soft palate. Such children may have an increased risk of ear problems, such as recurrent middle ear infections or persistent middle ear fluid (either of which may cause hearing loss). Submucous cleft palate can be detected by careful visual inspection and palpation of the child's soft palate.

Children with submucous cleft palates are also at increased risk of developing velopharyngeal insufficiency (VPI) following an adenoidectomy. To understand VPI, you need to know a bit about the function of the soft palate. In order to make some speech sounds (saying "k," for example), the soft palate is pushed backward, touching the back of the throat. This closes off the nasal cavity. If the soft palate fails to do so, these speech sounds will have an unusual "hypernasal" quality. During a swallow, the soft palate again is pushed backward, preventing food and drink from entering the nasal cavity. If the soft palate cannot touch the back of the throat during a swallow, food and drink can spill through the nasal cavity -- an unpleasant problem known as "nasal regurgitation." Nasal regurgitation and hypernasal speech are the hallmarks of VPI.

Your niece may never need adenoidectomy, but if she does, her surgeon should very carefully examine her palate for a submucous cleft. Adenoidectomy is still possible in such children, but the operation must be modified to accommodate the child's abnormal anatomy.