A short philtrum is a shorter than normal distance between the upper lip and the nose.
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.
This condition can be caused by:
- Chromosome 18q deletion syndrome
- Cohen syndrome
- DiGeorge syndrome
- Oral-facial-digital syndrome (OFD)
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
If your provider diagnosed a short philtrum, you may want to note that diagnosis in your personal medical record.
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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.
Madan-Khetarpal S, Arnold G. Genetic disorders and dysmorphic conditions. In: Zitelli, BJ, McIntire S, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Diagnosis. 7th ed. Philadelphia, PA: Elsevier Saunders; 2018:chap 1.
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.