Which are the causes of Pfeiffer Syndrome?

Pfeiffer Syndrome is a rare genetic disorder that affects the development of the skull, hands, and feet. It is characterized by premature fusion of certain skull bones, known as craniosynostosis, which leads to abnormal head shape and facial features. The syndrome is named after the physician who first described it, Dr. Rudolf Arthur Pfeiffer, in 1964.

The primary cause of Pfeiffer Syndrome is genetic mutations. Specifically, it is caused by mutations in the fibroblast growth factor receptor genes (FGFR1 and FGFR2). These genes provide instructions for making proteins that are involved in the development and maintenance of bone, cartilage, and other tissues in the body. Mutations in these genes disrupt the normal signaling pathways, leading to abnormal bone growth and fusion.

Pfeiffer Syndrome is typically inherited in an autosomal dominant pattern. This means that a person only needs to inherit one copy of the mutated gene from either parent to develop the syndrome. In some cases, however, the mutations occur spontaneously, without being inherited from either parent. These spontaneous mutations are thought to occur during early development of the embryo.

Advanced paternal age has also been associated with an increased risk of Pfeiffer Syndrome. Studies have shown that older fathers have a higher likelihood of passing on genetic mutations to their offspring, including those associated with Pfeiffer Syndrome. The exact reason behind this association is not fully understood, but it may be related to the increased accumulation of genetic mutations in sperm as men age.

It is important to note that Pfeiffer Syndrome is a rare disorder, and the specific causes and risk factors may vary among individuals. Genetic counseling and testing can help identify the underlying genetic mutations and provide valuable information for affected individuals and their families.