Acrocephalosyndactyly type I (ACS1), the scientific name for Apert Syndrome, is a congenital genetic disorder where the bones in the skull fuse prematurely. When this occurs, the rest of the body develops abnormally in specific patterns. The eyes bulge, and the eyelids tilt downward at the ends away from the nose. The face has an abnormal appearance with a sunken-in appearance, the upper jaw slopes backward, and the lower teeth project in front of the upper teeth. This is classified as an underbite. Finally, the hands and feet are webbed, sometimes including the fusion of finger bones, toe bones, and joints of fingers and toes.
More problems begin to arise when the brain continues to develop after the skull is already fused. This is why the head becomes distorted as brain creates pressure within the skull. Since there is nowhere for the brain to go, it presses outward on the most thin areas of the skull, causing deformations. The interesting thing about this disorder is that it is caused by a mutation. Estimated calculations show that approximately 95% of all cases are caused by these random mutations. The other 5% is actually due to a heritable autosomal dominant trait. This means that if a single allele from the mother or father is passed down, the individual will have the disorder. That is the typical method of an autosomal dominant disorder. Apert Syndrome is very different because the dominant allele only causes the disorder 50% of the time.
Sometimes the diagnosis Apert syndrome is extremely difficult because there are other disorders such as Carpenter syndrome, Crouzon’s syndrome, and Jackson-Weiss syndrome to name a few that have very similar if not exactly the same symptoms. They are all very rare, which makes the diagnosis even more difficult.
One amazing advancement for identification of this disease actually occurs pre-birth. There are a few tests that doctors can conduct as the fetus develops in the embryo to identify the disorder. If the results are positive, the mother has the option to abort, given all of the information by the doctor. After birth, there are other DNA tests, along with CT scans that can detect the fusion of the skull. This gives insight to the syndrome, and the family has treatment options after the diagnosis.
There are various treatments that individuals can undergo, and it all depends on the symptoms. The difficulty that arises with this is the doctors are treating the symptoms, not the disorder. Of the treatments available, they all include some form of surgeons that treat disorders of skeleton, joints, muscles, and related tissues; these are also known as orthopedic surgeons. Due to the possibility of heart problems, such as holes developing in the heart, cardiologists are often needed. Finally, otolaryngologists are needed to treat the ear, nose, and throats of individuals.
There are obvious difficulties that arise when these individuals have to interact in society; however, people are becoming increasingly tolerant and accepting of the abnormalities. Often, people are extra nice to individuals with the syndrome. Although this might seem like a special treatment, people are just trying to act kindly.
I never been drawn to the sciences as a major in college, but I have always been intrigued in how it shapes the life we live and affects others around us. Before reading this blog I had no prior knowledge of Acrocephalosyndactlyly type 1 (ACS1)/ Apert Syndrome or that it even existed. Sadly, this is the fate that many rare diseases and illnesses face if they are too rare and only affect an extremely minute portion of the population. Considering they do not pose as a big of a threat as cancer or ALS, they are not given enough attention to make serious progress in developing treatments. Because of this I would be interested to hear a story of someone who lived with ACS1 and the surgeries, treatments, and battles they had to endure. I feel as though when it comes to a disease of this nature, one thing is learning what it is and seeing what it does to the human body (mentally, physically, and emotionally) is another. Also, a personal question I have is how does this affect a human in the long run? Do they suffer brain damage or have shorter life spans? Finally, thank you for shedding some light on this terrible disease and I hope we can do more as a society to help treat and eventually defeat such rare diseases as Apert Syndrome, by raising awareness to increase public knowledge.