Cleft Lip and Cleft Palate

  • Medical Author:
    John Mersch, MD, FAAP

    Dr. Mersch received his Bachelor of Arts degree from the University of California, San Diego, and prior to entering the University Of Southern California School Of Medicine, was a graduate student (attaining PhD candidate status) in Experimental Pathology at USC. He attended internship and residency at Children's Hospital Los Angeles.

  • Medical Editor: William C. Shiel Jr., MD, FACP, FACR
    William C. Shiel Jr., MD, FACP, FACR

    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

View Cosmetic Dentistry: Before and After Slideshow Pictures

What are the causes and risk factors for developing a cleft lip and cleft palate?

While gender and ethnic background are risk factors, as described above, there are other factors that seem to play a role in causing clefting. Specialists have noted that the more severe the defect in a child the higher the risk for a cleft malformation in subsequent siblings. The recurrence risk for a cleft deformity is 2.7% if an older sibling has a single cleft lip. If an older sibling has bilateral (both sides of the upper lip) involvement, the recurrence risk is doubled (5.4%). If a parent has had either cleft lip or palate, there exists a 4% likelihood of cleft malformation in their children. However, if an affected parent has a child with cleft lip or palate, the chance of future children experiencing a cleft malformation rises to 14%.

How do physicians diagnose a cleft lip and cleft palate?

The diagnosis of cleft lip at birth is obvious. All newborn infants are screened at birth for cleft palate. Direct illuminated examination of the infant's hard and soft palate is part of the complete exam of any newborn. In addition, the palate (both hard and soft regions) are palpated with the examiner's finger to ensure that a "partial cleft" is not missed. Partial clefting occurs when a bony or muscular defect of the palate are obscured by intact skin covering the tissue separation (similar to covering a hole in beach sand with a towel).

Prior to birth, prenatal ultrasound examination may demonstrate malformation of the upper lip, nasal opening, or palate. Since as many as 35% of conceptions with cleft lip and palate may be associated with other non-oral cavity deformities, specialized ultrasounds may be indicated. Similarly, the obstetrician may recommend blood tests and an amniocentesis. A referral to a perinatologist (an obstetrician with specialized training in high-risk pregnancies) or a geneticist may be suggested.

Other birth defects that are associated with cleft lip and palate may include the following:

  1. Common cardiac defects
  2. Pyloric stenosis (narrowing of stomach as it connects to the small intestine)
  3. Club foot
  4. Scoliosis
Medically Reviewed by a Doctor on 3/21/2016

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