Here's what you need to know about Pfeiffer Syndrome, which is characterized by abnormalities in the skull, face, and limbs.
Pfeiffer Syndrome is caused by mutations in the FGFR1, FGFR2, or FGFR3 genes, which encode proteins involved in bone development and growth. As a result of these genetic mutations, the skull, face, and limbs are abnormally developed. An individual with Pfeiffer Syndrome only needs to inherit one copy of the mutated gene from either parent to develop the condition, as it is typically inherited autosomally dominantly. It is possible, however, for Pfeiffer Syndrome to occur sporadically without a family history.
Pfeiffer Syndrome symptoms may vary according to the genetic mutation and the severity of the condition. A common symptom of craniosynostosis is an abnormally shaped head (turribrachycephaly), bulging or wide-set eyes (hypertelorism), an underdeveloped midface, and a high arched palate. Additionally, individuals with Pfeiffer Syndrome may have broad and deviated thumbs and big toes, as well as syndactyly (fused fingers and toes).
Medical history, physical examination, and diagnostic tests are usually used to diagnose Pfeiffer Syndrome. A healthcare provider may inquire about symptoms, family history of the syndrome, and any other medical conditions or risk factors associated with the syndrome. Skeletal deformities, craniosynostosis, and facial abnormalities may be discovered during a physical examination. Genetic testing may be performed to identify mutations in the FGFR1, FGFR2, or FGFR3 genes and confirm the diagnosis.
It is important to manage symptoms, prevent complications, and improve quality of life with Pfeiffer Syndrome treatment. A multidisciplinary approach may be used with pediatricians, geneticists, orthopedic surgeons, and craniofacial surgeons involved. A variety of treatment options are available, depending on the symptoms and severity of the condition, and surgery may be used to correct craniosynostosis, facial abnormalities, and limb deformities. Optimizing outcomes and addressing any associated health issues or developmental delays require early intervention and ongoing monitoring.
In order to prevent Pfeiffer Syndrome, individuals and their families must be screened and managed early. A person with a family history of Pfeiffer Syndrome may be offered genetic counseling and testing to assess their inheritance risk and to provide information about screening and management options. In addition, prenatal testing may be available for families with a known genetic mutation associated with Pfeiffer Syndrome to assess the risk of passing the disease on to future generations.
