“Pfeiffer Syndrome is a less known, but still evident disease that affects around 1 in 100,000 births around the world.”
Pfeiffer Syndrome is a genetic disorder that is rare, and it can be characterized by the premature fusion of bones in the skill. This is known as craniosunostosis. This prevents further growth within the skull from happening. It also affects the way the head is shaped, along with the face of the affected. It is named after Rudolf Arther Pfeiffer. In 1964, he described a list of physical features that included eyes with a bulging appearance due to the small cheek bones underneath known as maxillary hypoplasia, coronal synostosis, and a high prominent forehead known as turribrachycephaly. Pfeiffer Syndrome affects around 1 in 100,000 births.
Pfeiffer Syndrome is mainly associated with the receptors that are important for healthy and normal bone development in humans. These are known as Fribroblast growth factor receptors 1 and 2. The syndrome mutates these growth factors giving the person this appearance. Pfeiffer Syndrome usually affects the bones in the head, and this is a result of premature fusion with the skull bones. This normally happens in the uterus before the child is born. The head is then unable to grow in a normal fashion. This then leads to bulging eyes that are wide set on the head and an underlying upper jaw area, with a beaked like nose. Around half of the children with Pfeiffer Syndrome go through loss of hearing and dental problems. Broad set toes and thumbs are other features that can be noticed with this syndrome.
There are three different subtypes that Pfeiffer Syndrome is classified into:
Type 1: This is known as “classic” Pfeiffer Syndrome. It is less severe than the other two types of the syndrome. A lot of the people that have type 1 of this syndrome have a normal intelligence, as well as a normal life span as a person without the syndrome.
Type 2: This is more severe, and a lot of times it also includes nervous system problems on top of the cranial bone problems. The intelligence of someone with type 2 Pfeiffer Syndrome tends to be slower than that of a person without the syndrome.
Type 3: Type 3 is much like type 2; however you can see a severe clover leaf shape of the head in those that have type 3 of the syndrome. The effects tend to be more severe with this type of the syndrome.