Axenfeld syndrome is a rare genetic condition associated with eye and facial abnormalities. Some patients also have abnormalities around the site of the umbilical cord, depending on the specifics of the gene. The variable presentation is a result of the fact that the mutations causing the condition can differ from patient to patient; people with this diagnosis share certain traits, but don’t experience uniform anomalies.
This condition is also called Axenfeld-Rieger syndrome or Hagedoom syndrome. The key feature is a distinctive ring around the cornea, and patients can also have other abnormalities in the front of the eye, like a slit pupil or weak muscles around the iris. Some patients may wear cosmetic lenses to address the distinctive appearance of the eye if they have concerns about attracting unwanted attention. Corrective lenses may also be required if the patient has trouble focusing.
Some patients also have skeletal anomalies, particularly in the face and around the teeth. Some have larger or smaller jaws, problems with tooth spacing, and other dental issues. These may become more apparent as the patient grows and the bones of the face have time to mature. Surgical treatment for patients with Axenfeld syndrome is available for both cosmetic and medical concerns like difficulty eating because of poor jaw alignment or unwanted attention caused by an unusual jawline or facial appearance. A doctor may recommend waiting to determine the severity of these skeletal abnormalities.
Patients with Axenfeld syndrome are at particular risk of glaucoma, which can onset at an unusually young age. Monitoring the pressure inside the eye can help identify early warning signs. Medications are available to manage intraocular pressure and in some cases surgery may be indicated to address problems with fluid drainage from the eye. Vigilance helps prevent permanent vision damage caused by glaucoma.
Genetically, this is a dominant trait; a patient must only inherit one copy of the involved gene to express it. If one parent has Axenfeld syndrome, there is a 50% likelihood that a child will have it, because the parent may or may not pass on the gene. People with two copies will pass the condition on to their children, but this is relatively rare, given the overall very low incidence of the genetic condition to begin with. Parents with concerns about Axenfeld syndrome in their family can talk to a genetic counselor about the risks and their options.
