Who Discovered Apert Syndrome?

Also called by the name Alpert’s syndrome, Apert syndrome is a congenital disease wherein the feet, hands, face and skull of the patient are suffering from malformations. This disorder is primarily a form of acrocephalosyndactyly. The areas usually affected by this branchial arch syndrome are the mandible, the precursor of the maxilla and the first branchial arch. To have a clearer picture of this disease, it is good to know who discovered Apert syndrome.

The Discovery of Apert Syndrome

Who discovered Apert syndrome? A French physician named Eugene Apert discovered this medical condition. It happened in 1906, when he described nine different individuals with common characteristics and attributes. These patients were suffering from acrocephalosyndactyly, wherein the bone or skin between the toes and fingers fuses together because no selective cell death is taking place.

Additional Facts and Other Interesting Information

Apert syndrome shares certain similarities with two other medical conditions, namely Pfeiffer syndrome and Crouzon syndrome. The odds of having this disease range from 1:160,000 to 1:200,000. There is a possibility that the acrocephalosyndactyly is a disorder considered as autosomal dominant. More often than not, this condition is associated with factors such as environmental insult or fresh mutations to the genome. When the parent has Apert syndrome, there is a 50 percent chance for the offspring to inherit this undesirable condition.

In terms of symptoms, patients with this medical condition exhibit cranial malformations. Another major sign that an individual is suffering from this disease is the development of a prominent forehead, which is usually associated with a posterior skull that is flat. Mental deficiency is also very much possible, especially if there is a development of increased cranial pressure. When the mid-facial bones experience growth deficiency, there is a chance for the patient to develop a concave face or a flat face. Other possible symptoms of the disease include low-set ears, broadly spaced eyes and shallow bony orbits.

One of the clearest signs that a patient is suffering from this condition is syndactyly, specifically of the feet and hands. Synonychia is also a possibility, wherein two or more nails can fuse together. In most cases, patients experience malformed and broad big toe and thumb. Additionally, expect the condition to progress as the patients continue to grow. In order to prevent the condition from damaging the development of the brain, patients can undergo surgery, which can actually help stop the coronal sutures from closing. For the treatment of facial deformities, a combination of orthognathic and orthodontic surgeries is necessary.

Related Posts

Comments: