Goldenhar Syndrome Research Paper

Words: 786
Pages: 4

Everyone dreams of having a healthy baby when it is born, for some, this does not happen. For example, my daughters were born with a variation of Goldenhar syndrome, which has played a large part in their health as they have been growing up. The oldest required emergency surgery the day she was born for a tracheo-esophageal fistula. At that time, the doctor believed it was a fluke and other children would be born healthy. Little did we know that when our second daughter was born with a mild heart defect, an ear tag and micropthalmia that genetics was brought into the equation where it was decided based on family history (granny had a cleft lip/palate) that my children had Goldenhar syndrome. Eighteen years have passed and the doctors now know that there are variations or different levels to Goldenhar syndrome based on how it affects a person. Goldenhar syndrome is a syndrome that goes by several different names. Craniofacial microsomia, hemi-facial microsomia, oculo-auricular-vertebral dysplasia are some of the names this syndrome is known by. Goldenhar sydrome is present at birth, meaning it is congenital and can be very serious or run to a milder version of this syndrome. This disorder mainly affects the head, which includes the ears, mouth, eyes and associated bones of the face. It can also affect the spine, heart, kidneys, and rarely the trachea and esophagus (tracheo-esophageal fistula). It typically affects only one side of the face …show more content…
Sometimes, environmental factors like a medicine a women takes during pregnancy can be the cause of a variation of this disorder, however the majority of the time, there is no cause found. There are some instances where this disorder does seem to be genetic, but there is no known genetic test for this syndrome. This diagnosis is based on the similar symptoms of this disorder when a doctor examines a