Understanding Three Craniosynostosis Syndromes

Your face is the first thing that people will see when they meet you, and the essential functions that occur in and around your craniofacial area (breathing, eyesight, eating, and more) can be significantly impacted by one of many craniofacial syndromes. Here are three of the most common craniosynostosis syndromes caused by premature or improper skull bone fusion that you might see in children, how to identify them, and factors that might contribute to someone inheriting the syndrome.

Apert Syndrome

This genetic disorder affects about 1 in 65,000 to 88,000 babies born, and impacts the normal growth and shape of the head and face, as well as causing fingers and toes to fuse together. It is most often identifiable because the premature skull bone fusion leads to abnormal growth patterns in the face, resulting in a sunken appearance in the middle of the face, wide-set eyes, beaked nose, and an underdeveloped jaw.

Outside of the visible deformities, this syndrome can lead to vision problems, dental problems such as crowding of the teeth, hearing loss, recurrent ear infections, patchy missing hair, fused spinal bones in the neck, and disruptions in intellectual development and cognitive abilities. Generally these disorders are the result of new mutations in genes and occur in people with no family history, but someone with the disorder can pass it along to their own children.

Crouzon Syndrome

Crouzon Syndrome is another disorder caused by premature fusion of some skull bones and affects the shape of the head and face. Similar to Apert Syndrome, the person may have wide-set and bulging eyes, a wide skull and high forehead, beaked nose, and shallow eye sockets that lead to vision problems. They may also have eyes that are pointed different directions, a short upper lip, and underdeveloped jaw.

Unlike Apert Syndrome, there is often no disruption to normal cognitive development, and no discernible intellectual abilities, but it can cause dental problems and hearing loss, and may also be linked to cleft lip and palate. It affects about 1 in 60,000 newborns and is the most common craniosynostosis syndrome.

Pfeiffer Syndrome 

Like other craniosynostosis syndromes, this one is characterized by premature fusion of skull bones, affecting normal head and face shape, but this one can also impact the bones in the hands and feet. It is often characterized by a short, cone-shaped head, protruding eyes, and a high arched or cleft palate. Similar to the conditions above, people with Pfeiffer syndrome often have a high forehead, beaked nose, underdeveloped jaw, as well as hearing loss and dental problems. Its impact on the digits of the hands and feet may be the best way to identify it, though, since people with the condition often have thumbs and big toes that are wide and bend away from the other digits, or exceptionally short fingers and toes.

Type 1 Pfeiffer syndrome has the symptoms described above, but generally doesn’t have any impact on intelligence levels or lifespan. Types 2 and 3, however, are more severe because they include problems with the nervous system, limiting brain growth and causing developmental delays and neurological issues. Type 2 is usually distinguishable because the person will have a clover-shaped head. Overall, this syndrome occurs in about 1 in 100,000 births.

While a craniofacial syndrome can be difficult, in many cases there are treatment options available to help reduce the impacts on day-to-day life. Talk to the premier craniofacial doctor in Salt Lake City, Dr. Schmelzer, today to find out more.

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