Syndromic Craniofacial Problems 101: What You Need to Know

Craniofacial SyndromeSyndromic craniofacial problems, also known as craniofacial syndromes, are a collective term typically associated with abnormalities affecting the face and skull. In some cases, the effects are also evident in the limbs. These similar, usually inherited anomalies occur when the skull’s coronal sutures have fusion, resulting in a skull either lacking in length from front to back or are wide and tall.

People who suffer from these problems also have abnormalities when it comes to their midface bones. These bones start from the eye sockets, or orbits, all the way to the upper jaw. Because of this, their midface bones suffer from erratic growth, leading to a concave (retruded) face combined with an underbite.

How painful are these conditions?

In most cases, craniofacial syndromes do not come with pain or discomfort. However, when the brain receives too much pressure, the patient can experience headaches, vomiting, nausea, and irritability.

There are also some cases wherein the fingers can become tightly webbed together, leading to increased risks of infections around their nails. Their skin also becomes more prone to breakdowns, which can cause discomfort or pain.

Those with very shallow bony eye sockets also have increased risks of experiencing drying out and irritation of the corneas, situations wherein the patient may feel discomfort or pain.

What are the most common types of craniofacial syndromes?

The most common types of craniofacial syndromes include Apert’s, Crouzon’s, and Pfeiffer’s syndrome. Many others exist, such as Nager’s, Carpenter’s, Jackson-Weiss, and Saethre-Chotzen syndrome, but the three previously mentioned remain the most common.

Who are at greatest risk of developing these conditions?

You can inherit any of these syndromes because they pass from one generation to the other via the genes. According to health experts, the offspring of a person suffering from any of these conditions have a 50 percent chance of inheriting the syndrome.

Are there treatments available?

All thanks to innovations in the medical industry, surgeons can now treat craniofacial syndromes.

According to CranioFacial MD, it all starts with proper syndromic craniofacial diagnosis, though, as they need to determine which type of syndrome the patient is suffering from in order to come up with the proper solution and treatment program.