Definition:
Female Pseudo-Turner Syndrome, also known as Noonan syndrome, is a rare hereditary disorder that is usually detected once the patient is born.
Diagnosis:
The disease can be diagnosed based on the symptoms shown by the patient as well as genetic counseling.
Treatment:
There is no treatment available for the disease.
Symptoms and Signs:
The disease features several characteristics, including craniofacial abnormalities, curvature of the spine, a dislocated breastbone, cardiac defects such as pulmonary valvular stenosis, and lymphatic problems.
Causes:
The disease is an autosomal dominant disorder with mutations that occurred in genes PTPN11, SOS1, RAF1 and KRAS.
