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Short philtrum

 

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

 

This condition can be caused by:

  • 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 health care provider's instructions on how to care for the condition.

 

When to Contact a Medical Professional

 

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

 

 

References

Buckley RH. Primary defects in cellular immunity. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 125.

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: Elsevier Saunders; 2013:chap I.

 
  • The face

    The face - illustration

    The physical landmarks of the human face are very similar from one face to another.

    The face

    illustration

  • Philtrum

    Philtrum - illustration

    The philtrum is the midline groove in the upper lip that runs from the top of the lip to the nose. The way the philtrum appears is determined genetically. In some syndromes this grove is shortened.

    Philtrum

    illustration

    • The face

      The face - illustration

      The physical landmarks of the human face are very similar from one face to another.

      The face

      illustration

    • Philtrum

      Philtrum - illustration

      The philtrum is the midline groove in the upper lip that runs from the top of the lip to the nose. The way the philtrum appears is determined genetically. In some syndromes this grove is shortened.

      Philtrum

      illustration

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        Tests for Short philtrum

         

           

          Review Date: 2/15/2016

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

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