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The face
The face
Philtrum
Philtrum

Short philtrum
Definition:
The philtrum is defined by the two slight ridges in the skin that run from the nose to the upper lip. A short philtrum is a shorter-than-normal distance between the upper lip and the nose.

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.
Common Causes:
  • Cohen syndrome
  • Oral-facial-digital syndrome
Home Care:
  • Call your health care professional.
  • There is usually no home care needed for a short philtrum, however, if this is only one symptom of an underlying condition, follow your doctors instructions on how to care for the condition.
Call your health care provider if:

If you notice a short philtrum on your child, call your health care provider.
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 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.
Review Date: 1/4/2002
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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