Fraser’s syndrome

Fraser’s syndrome is an inherited condition characterized by multiple abnormalities. It includes cryptophthalmos, which is the absence of the opening between the upper and lower eyelids, along with malformations of the ear, cleft palate, narrowing of the larynx (voice-box), syndactyly (fusion of two or more fingers or toes), imperforate anus, cardiac defects, kidney malformation, and genital masculinization in females. This syndrome is inherited as an autosomal recessive genetic trait.


A significant number of infants born with Fraser’s syndrome do not survive beyond their first year of life. However, for those who manage to survive, there is hope for improved vision and eyelid movement through surgery on the eyelids and corneas.


 


Posted

in

by

Tags: