Definition:
Pfeiffer syndrome is a disorder often genetic in nature. This disorder is characterized by a premature fusion of the craniosynostosis and prevents the growth of the skull thereby affecting head shape as well as the face. This condition though is extremely rare which can also happen to the healthiest people.
Diagnosis:
Diagnosis of Pfeiffer syndrome can be done through newborn screening for some which symptoms still do not manifest upon birth. For fetus already manifesting symptoms, ultrasound imaging can be done as diagnosis with different laboratory tests.
Treatment:
The only known treatment for Pfeiffer syndrome now is gene therapy which is also not yet found to have a great impact.
Symptoms and Signs:
Abnormal facial features may result as symptom to Pfeiffer syndrome. The skull is the affected part impeding normal growth of the head and lead to bulging of some parts of the head and also wide-set eyes. Patients will also have an underdeveloped upper jaw with beaked nose.Hearing loss is also associated with this disorder with some dental problems.
Causes:
The abnormal mutations in the genes named FGFR1 and FGFR2 are the main cause of Pfeiffer syndrome.
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
