What Is Nager Syndrome?

Nager syndrome is a rare congenital disorder characterized by the presence of facial abnormalities. Some patients with this condition may need surgery to correct anomalies in their facial structure. This condition can also involve anomalies in the lower arms and hands. The variable presentation of Nager syndrome can mean that some patients have relatively mild cases, while others may have a more severe form of the condition that requires more intervention. Cognitive development for people with Nager syndrome is not typically impaired, although some may have comorbidities that cause learning disabilities or other cognitive problems.

This condition often appears spontaneously as a result of a genetic mutation. There is also a pattern of genetic inheritance. Parents with Nager syndrome can pass it on to their children either through dominant or recessive patterns of inheritance. No specific gene or cluster of genes responsible for the development of Nager syndrome have been identified.

Patients typically have small jaws and underdeveloped cheeks, which can pull the eyes down. Some have limited to no eyelashes and anomalies of the eyelid. Cleft lip and palate can occur, as can changes to the structure of the ears, which sometimes cause hearing impairments. The muscles that control the throat and jaw may be abnormal, which can cause breathing and feeding problems and may limit facial expression in some patients. In patients with arm abnormalities, the thumbs can be missing or unusually shaped and the lower arms can be proportionally shortened.

Diagnosis of Nager syndrome can occur shortly after birth, on the basis of the anomalies in the facial structure and some information about family history. A doctor can evaluate the patient to determine which interventions, if any, would be recommended. Some patients need surgery to breathe and eat comfortably. Others may need reconstructive plastic surgery on their faces to enlarge the jaw and make the cheeks more prominent. Oculoplastic surgery can address issues with the eyelids, and procedures are also available to address anomalies in ear shape.

Too much surgery too early can be a problem for developing infants, as the structure of the face changes naturally when children grow. The doctor may recommend some basic procedures to address immediate health concerns, but may advise waiting for aesthetic surgical options. Parents, children, and doctors may need to balance worries about teasing and bullying at school for kids with facial anomalies with worries about repeat surgeries that may be necessary as children grow and their faces develop.