Craniofacial syndromes
There are many genetic syndromes that affect the craniofacial skeleton. Some of the more common of these are listed below, but Dr. Purnell is happy to evaluate any of these syndromes, or patients who have an unknown, undiagnosed, or prenatal diagnosis. In any case, a team approach is critical to the care of any patient with a craniofacial syndrome. Dr. Purnell is part of a multidisciplinary craniofacial team at both institutions that is very experienced in dealing with these complicated patients. If you have any questions about craniofacial syndromes or would like to make an appointment, follow the links at the bottom of this page.
Treacher Collins Syndrome:
This syndrome can cause many changes in the shape and growth of the face. There is a wide range of presentation of Treacher Collins syndrome, but patients might have missing portions of eyelids (coloboma), small lower jaws (micrognathia), cleft palate, and missing or underdeveloped ears (microtia). There is often associated hearing loss and breathing difficulties. Cheekbones may also be missing. Dr. Purnell offers a wide range of treatments for Treacher Collins syndrome. In particular, he has studied techniques for counterclockwise craniofacial rotation (C3DO) surgery with the preeminent expert in the field, Dr. Richard Hopper. This procedure is designed to help patients with Treacher Collins Syndrome remove a tracheostomy that they need to breathe.
Apert Syndrome:
Apert Syndrome affects the growth of the skeleton in many ways. Patients with Apert Syndrome may have fused skull bones (craniosynostosis), wide spread eyes (hypertelorism), cleft palate, and limited growth of the middle part of the face (midface hypoplasia). They also often have fusions of the fingers and toes (syndactyly).
Patients with Apert syndrome often require many surgeries throughout their lifetime. Dr. Purnell is well trained in the treatment of these complex patients, including in segmental midface distraction procedures designed to improve breathing and appearance.
Crouzon Syndrome:
Crouzon syndrome also affects the growth of the facial skeleton in many ways. Patients may have fused skull bones (craniosynostosis), wide spread eyes (hypertelorism), and limited growth of the middle part of the face. They may also develop increased intracranial pressure.
Patients with Crouzon syndrome often require many surgeries throughout their lifetime. Dr. Purnell is well trained in the treatment of these complex patients.
Pfeiffer Syndrome:
Pfeiffer Syndrome has a wide range of presentation and can affect some individuals much more severely than others. Patients with Pfeiffer syndrome may have fusion of skull bones (craniosynostosis), limited growth of the middle portion of the face, (midface hypoplasia), and may have significant breathing issues from birth requiring tracheostomy.
Patients with Pfeiffer Syndrome often require many surgeries throughout their lifetime. Surgical treatment should be customized to each individual and their needs.
Pierre Robin Sequence
Pierre Robin Sequence is not a syndrome – it is a restriction of growth of the lower jaw (mandible) that results in breathing problems and sometimes cleft palate. These children may have other syndromes, such as Stickler or Velocardiofacial (22q11.2) syndrome. Sometimes, the jaw is so small that breathing is compromised from birth, resulting in a need for lengthening of the jaw (distraction osteogenesis). Each patient with Pierre Robin Sequence is different, and may need different treatments, ranging from nonsurgical to surgical.
Craniofacial microsomia
Craniofacial microsomia is also not a true syndrome, but is quite common. Patients with craniofacial microsomia (hemifacial microsomia) have limited growth of one or both sides of the facial skeleton and soft tissues. The jaws, eyes, ears, and facial nerve may be affected (facial palsy or paralysis). Patients with craniofacial microsomia are each different and may need a range of treatment, from orthodontics alone to multiple surgeries.