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.
- Chromosome 18q deletion syndrome
- Cohen syndrome
- DiGeorge syndrome
- Oral-facial-digital syndrome (OFD)
There is usually no home care needed for a short philtrum. 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 that, when taken together, 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
If your health care provider diagnosed a short philtrum, you may want to note that diagnosis in your personal medical record.
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997-
A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.