Posts

Showing posts from July, 2018

Aarskog Syndrome

Image
                                                Aarskog Syndrome Aarskog syndrome is a rare genetic condition, also known as faciogenital dysplasia characterized by short stature , hypertelorism, multiple facial, brachydactyly limb and genital abnormalities, shawl scrotum, Additionally, some types of cognitive disorders may occasionally be present, although there is wide ,phenotypic variability. Still now, the FGD1 gene on the X chromosome is the only gene known to be related with Aarskog disorder. Aarskog syndrome essentially influences males. Males have 1 X chromosome, the male child of a mother who having the hereditary defect will likely have Aarskog disorder. Males with Aarskog syndrome regularly have a rounded face with a wide forehead. Additional characteristic features incorporate broadly spaced eyes, hanging of the eyelids, a little nose with nostrils that are flared forward, an underdeveloped upper jawbone, and a widow’s peak. But females have two X chr