What is Hallermann's Syndrome?

Hallermann's Syndrome is genetic disorder resulting in a spectrum of symptoms dominated by facial and head abnormalities. It is very rare, and although exact statistics relating to the prevalence of this condition are currently unavailable, it is believed that fewer than 200 people currently have this condition world wide. The primary symptom is the malformation of the bones of the head and face which is called dyscephaly. This leads to an abnormal facial structure that is birdlike with disfiguration involving the mouth, teeth, nose, and eyes. This can result in developmental problems affecting speech, normal chewing and swallowing patterns, and sight. Other symptoms include having very little hair on the head and body, an abnormally short stature, and abnormally small eyes. Not all people born with Hallermann's Syndrome have all of these characteristics.

Infants born with Hallermann's Syndrome have abnormally small jaws. The size of the jaw disrupts the normal development of the teeth. The first set of teeth may erupt early, and be misplaced and irregularly formed. Crowding is often a problem as the malformed jaw does not have enough room for a full set of teeth. In some cases, the permanent teeth do not form at all or only some of them form. Proper dental can from birth can help minimize and correct problems.

As the child grows older, other complications may occur. Due to the facial abnormalities, many of those diagnosed with Hallermann's Syndrome have some problems with sleep apnea. These problems can begin in childhood. Vision problems can also begin young, and many sufferers develop cataracts or detached retinas by their teen years. The skin of the head can thickens abnormally as the child grows increasing the disfigurement.

Treatment for Hallermann's Syndrome is usually focused on appropriate dental care in the early years. This may include dental work done under anesthesia to create a more normal mouth structure to facilitate eating and normal speech can development. It is important that all patients follow a high quality preventive dental program seeing their dentist regularly. Regular preventive eye care is also necessary. Early detection and removal of cataracts can help prevent developmental delays due to vision problems. After puberty, patients may elect to have plastic surgery to improve their appearance. Patients who develop sleep apnea should use a positive airway mask when they sleep.

Although Hallermann's Syndrome, can require extra medical care and treatment the prognosis for those with this genetic condition is excellent. People with Hallermann's Syndrome live normal life spans and in general are able to participate fully in life. Most of those with Hallermann's Syndrome do not have a family member with the disease. It is believed that it may often be caused by a spontaneous genetic mutation. Genetic counseling is recommended to those who have this syndrome or who have a close family member with it before trying to conceive.