Considerations: Facial features are characteristics dictated by genetic inheritance. Genetic abnormalities may predispose individuals to changes in features. The length of the philtrum, which is the midline groove that runs from the top of the lip to the nose, is determined genetically. In some syndromes this groove is shortened.
What to expect at your health care provider's office: An infant with a short philtrum may have other symptoms and signs that, when taken together, define a specific syndrome or condition. Diagnosis of that condition is based on a family history, medical history, and thorough physical evaluation by an experienced geneticist.
Medical history questions documenting short philtrum in detail may include:
- Did you notice this when the child was born?
- Have any other family members had this facial feature?
- Have any other family members been diagnosed with a disorder associated with short philtrum?
- What other symptoms are also present?
Diagnostic tests:
Laboratory studies such as chromosome studies, enzyme assays, x-rays and metabolic studies on both mother and infant may be ordered to confirm the presence of a suspected disorder.
After seeing your health care provider:
If a diagnosis was made by your health care provider associated with a short philtrum, you may want to note that diagnosis in your personal medical record.