Doctors and scientists in Seattle Children’s Craniofacial Center are studying isolated cleft lip and palate and complex conditions that cause gaps in part of the face or head (clefts).

These conditions include Robin sequence, Stickler syndrome, 22q11.2 deletion syndrome and Van der Woude syndrome.

The National Institutes of Health (NIH) funds many of our research projects.

Cleft Causes and Prevention

  • Dr. Timothy Cox and his team do research with animals to understand why clefts happen in the lip and roof of the mouth (palate). Work in the Cox lab combines molecular genetics and embryology with 3-D imaging to understand how genes and diet affect each other. The goal is to find the causes of clefts and ways to prevent them.

    Read about research on causes of clefts and how to prevent them..
  • Dr. Cox is also working with an international team to identify new genes responsible for causing cleft lip and palate in families. The project uses state-of-the-art gene sequencing technologies. The work will lead to better care and treatments for people with clefts.
  • Dr. Kai Yu uses mouse models and advanced 3-D imaging to understand how the palate forms. Past research identified changes in genes (mutations) that cause cleft palate. Now he works to understand how mutations disrupt normal development of the palate.

Measuring Clefts and Surgical Results

Dr. Raymond Tse is working to measure how severe a cleft is and how much surgery changes it. He uses 2-D and 3-D imaging to make exact measurements.

He also works with computer science engineers on tools to measure cleft severity and treatment success. They want to understand how the lip and nose change as a child grows. The goal is to help surgeons decide on the best treatment for each child.

Reporting on Baby’s Health After Cleft Lip Repair

Seattle Children’s doctors are developing a tool to collect information from parents about their baby’s health after surgery for cleft lip. The goal is to find standard ways to measure the success of different treatments. The tool is being developed with help from caregivers of babies with clefts. Drs. Carrie Heike and Richard Hopper are working on the tool with researchers at the University of Washington and the University of Illinois at Chicago.

Sleep Apnea and Robin Sequence

  • A team led by Dr. Kelly Evans is studying obstructive sleep apnea in babies with craniofacial conditions, including Robin sequence. The goal is to help children with craniofacial conditions breathe better so they can thrive. Researchers also want to learn the type of support that is most helpful for families.
  • Past research helped us understand which babies and children with Robin sequence are at risk for severe breathing problems. Now we are studying if we can identify these children by certain airway and facial features that can be seen on imaging scans.
  • The Evans lab also is looking at factors during pregnancy and at birth that might be linked with Robin sequence.

Learning Differences in Children With Clefting

Dr. Brent Collett and Dr. Emily Gallagher are studying the early learning skills of children with clefts compared to children without clefts.

Past research showed that children with clefts are more likely to have learning problems in school than their classmates. Drs. Collett and Gallagher want to know what might cause these problems and what can be done to prevent them. They are studying ways parents can use reading to improve their children’s speech and language skills.