The Development of the Human Face and Head

There’s a reason we can recognize someone we know, even in a crowd—humans are naturally drawn to faces. Our brains are excellent at picking out subtle differences in facial features, like jaw shape, eyebrow curves, or the height of cheekbones. Faces hold a special significance, not only in art and poetry but also in technology through facial recognition. The traits we see in faces play a big role in identifying who we are.

“A face contains a lot of valuable information,” explains Dr. Seth Weinberg, a genetic researcher at the University of Pittsburgh who focuses on head and facial development. “It’s essential for human connection, emotional understanding, and social interaction.”

Despite being so important to our identity and communication, scientists still don’t fully understand how the face takes shape. They also have more to learn about what causes certain birth defects of the face and skull known as craniofacial disorders. These conditions can interfere with vital functions like eating, hearing, breathing, and speaking, and they can also impact brain growth.

Research funded by the National Institutes of Health (NIH) aims to unravel the biological foundations of head and facial development. By doing so, scientists hope to improve the prevention and treatment of craniofacial disorders—such as cleft lip and palate—and gain more insight into how other parts of the body grow and function. This is because the face and head involve a variety of tissues, including nerves, bones, and immune cells.

Shaping the Face and Skull

To better understand how the face and skull form, researchers collect and study vast amounts of data. This includes genetic details, facial images, and other biological measurements from both people and animals. Scientists also collaborate and share this data to make new discoveries possible.

So far, studies have identified more than 300 sections of human DNA connected to facial traits such as nose size, eye spacing, and chin form. In one major project, Dr. Weinberg and his team examined head images from over 6,000 children, which led them to discover new genes that influence the shape of the head. These insights can provide clues to the causes of certain genetic head disorders.

However, genetic makeup isn’t the only factor that determines how a face looks. Even identical twins, who share the same DNA, often have slight facial differences.

“Our data shows that genetics alone account for about 14% of the variation in facial characteristics,” Weinberg mentions. Elements like one's environment, age, nutrition, and exposure to certain substances all shape facial features before and after birth.

Customized Care

Although not every factor involved in facial development is known, researchers understand that craniofacial conditions usually begin during pregnancy. They occur when parts of the baby's head and face—including bones and tissues—do not form properly in the womb.

One well-known example is cleft lip and palate. This is a condition that typically arises within the first few months of pregnancy when the sections of the lip or the roof of the mouth fail to join correctly. The result is a visible gap.

“Cleft lip and palate is the most common craniofacial defect,” says Dr. Janice Lee of NIH, a specialist in facial surgeries. “Rather than one continuous lip, there may be a split or notch, often extending into the nasal area.” With current 3D imaging technology, doctors can often spot clefts during pregnancy and begin to plan for later treatment.

Infants born with cleft conditions are typically seen by teams that may include surgeons, pediatricians, dentists, speech experts, and genetic counselors. These professionals guide the child through a treatment journey that can last from infancy into adulthood. Cleft conditions can influence oral function as well as confidence and self-image. The approach to care is tailored to the child’s unique needs, and many children with these conditions go on to lead strong, healthy lives.

Innovating Care and Looking Ahead

Facial surgeries can be demanding and often involve intensive recovery. Even after operations, some children face challenges with speech, eating, or breathing. Because of this, scientists continue to explore better surgical methods and tools to enhance results. Some researchers are also developing AI-driven software to assist in planning delicate facial surgeries like those for cleft lip and palate.

Other experts are working on ways to reduce the need for surgery in craniofacial conditions. One such researcher, Dr. Yang Chai at the University of Southern California, focuses on craniosynostosis—a disorder where the bones of a baby’s skull fuse too early, affecting head shape and brain development.

“During my training, I operated on these cases but didn’t fully understand why they occurred,” says Chai. “That pushed me to dig deeper and seek better answers for families.”

His team is experimenting with methods to grow new tissue between skull bones in mice with this disorder. The research involves stem cells—special cells that can transform into different cell types, including bone and skin. By using stem cells, they aim to reshape the skull and improve brain function in affected animals. These advancements suggest that stem cell therapy could one day offer a safer alternative to traditional surgeries.

Another promising direction in this field is identifying who might be more likely to develop facial and skull defects. “If we can discover which individuals or families are most at risk, we may find ways to prevent these conditions altogether,” says Dr. Lee. “We’re moving toward that goal, and early detection holds a lot of promise.”