Pfeiffer Syndrome
Pfeiffer Syndrome Causes
The abnormal mutations in the genes named FGFR1 and FGFR2 are the main cause of Pfeiffer syndrome.
Pfeiffer Syndrome 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.
Pfeiffer Syndrome 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.
Pfeiffer Syndrome 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.
Pfeiffer Syndrome Treatment
The only known treatment for Pfeiffer syndrome now is gene therapy which is also not yet found to have a great impact.