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Short philtrum

Definition

A short philtrum is a shorter than normal distance between the upper lip and the nose.

Considerations

The philtrum is the groove that runs from the top of the lip to the nose.

The length of the philtrum is passed down from parents to their children through genes. This groove is shortened in people with certain conditions.

Causes

  • Chromosome 18q deletion syndrome
  • Cohen syndrome
  • DiGeorge syndrome
  • Oral-facial-digital syndrome (OFD)

Home Care

No home care needed for a short philtrum, in most cases. However, if this is only one symptom of another disorder, follow your doctor's instructions on how to care for the condition.

When to Contact a Medical Professional

Call your health care provider if you notice a short philtrum on your child.

What to Expect at Your Office Visit

An infant with a short philtrum may have other symptoms and signs. Taken together, these may define a specific syndrome or condition. The doctor will diagnose that condition based on a family history, medical history, and physical exam.

Medical history questions may include:

  • Did you notice this when the child was born?
  • Have any other family members had this feature?
  • Have any other family members been diagnosed with a disorder associated with a short philtrum?
  • What other symptoms are present?

Tests to diagnose a short philtrum:

  • Chromosome studies
  • Enzyme tests
  • Metabolic studies on both mother and infant
  • X-rays

If your health care provider diagnosed a short philtrum, you may want to note that diagnosis in your personal medical record.

References

Jones KL, Jones MC, Del Campo M. Facial-limb defects as major feature. In: Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation. 7th ed. Philadelphia, Pa: Saunders Elsevier; 2013:chap I.


Review Date: 2/26/2014
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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