5 Things Parents Should Know About Craniofacial Disorders

July marks National Cleft and Craniofacial Awareness Month, and with thousands of babies being born with a cleft every year in America, it’s important for families to recognize and learn about the different types of craniofacial disorders.

Raj Sawh-Martinez, MD, Medical Director of the Craniofacial Clinic at AdventHealth for Children, is sharing the top five things parents should know about cleft and other craniofacial syndromes.

1. What are the most common types of craniofacial disorders?

AdventHealth for Children specializes in complex, coordinated multidisciplinary care for a wide range of disorders. “Most often, we treat craniofacial disorders that occur most commonly, including cleft lip, cleft palate, craniosynostosis (premature fusion of skull bones), mandibular micrognathia, vascular and cutaneous (skin) anomalies, and plagiocephaly (abnormal head shapes),” says Dr. Sawh-Martinez.

2. What is the cause or source of craniofacial disorders?

These craniofacial differences can be isolated, or they can be part of syndromes that carry along with them other findings, including heart, kidney, ear, visual, nasal, maxillary and skeletal disturbances, among many others. These combinations are somewhat rare overall, but it’s common for AdventHealth for Children to see patients with rare syndromes.

“For patients with multiple clinical findings, where we have a high suspicion for a particular syndrome, genetic testing can help us determine the affected gene mutations that underlie the syndrome,” Dr. Sawh-Martinez explains.

In other patients, sometimes the exact cause or source is either unknown or may have multiple factors — both genetic predisposition and possible environmental factors. Other times it’s simply differences that occur during a baby’s development.  

Our team at AdventHealth for Children and others around the country are actively involved in continuing to work towards a better understanding of these disorders and syndromes. 

3. At what stage in a baby’s life is it possible to identify if they have cleft lip or other craniofacial syndromes?

“Many disorders occur in the first trimester when there is rapid development,” says Dr. Sawh-Martinez. “Dedicated pre-natal imaging is sometimes able to identify external manifestations of craniofacial disorders, however, these can sometime be challenging to accurately or fully appreciate.”  

A thorough and complete physical examination at birth remains the gold standard to fully identify the full spectrum of involved craniofacial disorders and their severity. 

Other disorders may develop over time during infancy. Head shape differences and early fusion of the skull bones (craniosynostosis) are sometimes not immediately noticeable.  

We recognize that bringing a baby home from the hospital can be a scary time for a parent as they navigate the first few months as an expanded family. The list of things to worry about as a child develops can seem endless, and a baby’s head shape is most certainly a common concern. If you suspect a difference or are worried, we strongly recommend early evaluation with a craniofacial surgery team. Our specialists are available for telehealth visits and can help identify needs early on and offer reassurance. 

4. What are the most common signs and symptoms of craniofacial disorders?

Some signs are clearly visible, such as:

• Abnormally shaped ears (microtia)

• A gap in the contours of the lip and nose (cleft lip)

• A gap inside the roof of the mouth (cleft palate)

• Pigmented growths on the skin (vascular and cutaneous anomalies)

• Severely small jaw or jawbone (micrognathia)

Some signs are more subtle, including:

• Differently shaped heads (positional plagiocephaly or craniosynostosis)

• Minor facial asymmetries (minor clefts, subtle hemifacial microsomia, and many others)

“Most obvious findings are noted right away at birth and appropriate referrals are made. Then families may attain second opinions and chose their providers,” says Dr. Sawh-Martinez.

5. Would a baby who is born with a craniofacial condition typically have a different developmental track than other babies?

“All children have their own timings and developmental tracks,” says Dr. Sawh-Martinez. “Developmental and growth delays can occur depending on the underlying condition, named syndrome or severity of the condition and there are also surgical risks that can contribute.”

However, for isolated symptoms and conditions, most children will develop normally and on track. At AdventHealth for Children, our team includes nationally recognized neuropsychologists who can help provide in-depth evaluations and resources, if your child has identified developmental needs. 

Care and Treatment Options

From non-surgical options to state of the art minimally invasive approaches, our team customizes each child’s treatment plan based on the severity of needs, age and your family’s preferences based on the risks, benefits and alternatives to any intervention.  

Using state-of-the-art 3D imaging and printing techniques to create customized molds and guides for a wide variety of treatment options, your child can receive care using the highest level of technology.  

According to Dr. Sawh-Martinez, “AdventHealth is also actively engaged in research so that we can all contribute to improving your child’s outcomes, and for the benefit of future generations of children with craniofacial disorders.”

“Our diverse families have diverse needs,” says Dr. Sawh-Martinez. “We are committed to providing all the clinical guidance and support possible in our team, however, we fully recognize and appreciate that it takes a village to raise a child, especially with the stress of possible surgery.”

During your consultation, you’ll discuss the appropriate national organizations that help provide additional resources and support to help you make the best decision for you and your families. 

Finding the Right Care

All children and families should have established and comfortable relationships with their pediatrician. This is critical for the safety and health of all children, especially those needing to undergo surgery early in life. If you’re looking for a care provider, allow AdventHealth’s Women and Children Health Navigation team to help by clicking here.

Help spread knowledge and awareness about these conditions. Because of the complex, multidisciplinary nature of care required to treat craniofacial disorders, our friends and families need everyone’s help to raise awareness and advocate on their behalf. Learn more about AdventHealth for Children’s Craniofacial program here.