Seattle Children’s doctors and scientists are studying causes and effects of craniofacial microsomia (CFM) and microtia (very small or abnormally shaped ears).

Several of our researchers receive funding support from the National Institutes of Health (NIH).

FACIAL Research Network for Craniofacial Microsomia

To improve care for all children with CFM, Dr. Carrie Heike and her team work on standard ways to define and treat this condition. In the past, medical centers have defined cases differently and treated CFM in different ways.

Heike led efforts to establish a national network to share information about children with CFM. Sharing information about a large number of children with CFM could help us understand what causes the condition. This may improve treatments.

Heike worked with Dr. Daniela Luquetti, researchers at Seattle Children’s and collaborators across the country to start the network. It is called Facial Asymmetry Collaborative for Interdisciplinary Analysis and Learning (FACIAL).

Learn more about FACIAL work in the Heike lab.

How CFM Affects Children’s Development

Seattle Children’s researchers are studying CFM’s effect on how babies and toddlers develop. They also are exploring hearing in children with CFM who are between 1 year and 3½ years old.

Knowing if there is a link between CFM and children’s social and learning problems could lead to better treatment at an early age. Study leaders are Drs. Carrie Heike and Matthew Speltz.

Genetic and Environmental Factors in Microtia

Dr. Daniela Luquetti studies the DNA of people with microtia to learn about changes in genes that cause the condition. She works with researchers here and in South America, where microtia seems to be more common.

Researchers also are studying whether factors in the environment raise the risk for this condition.

Children may have microtia by itself. It also happens as part of conditions such as CFM or Treacher Collins syndrome.

An Animal Model for Studying Microtia

A new mutation that causes malformed ears in rats and mice has been identified by Dr. Eric Turner and Dr. Timothy Cox, together with research partners in Japan. The next step is to study mice with a mutation in the same gene, plus other newly identified genes, to understand how ear defects develop.

Findings from the study are expected to help researchers identify the genetic changes that cause these types of malformations in people.

Read how research inspired by a pet rat provides clues on causes of ear malformations in kids.

Standardized Classification of Microtia

With Dr. Carrie Heike, the Luquetti lab is developing a system to describe and rate the physical traits of microtia and how severe each case is.

This will help standardize how doctors and researchers collect and interpret data about microtia. Their goal is to better understand and assess it.