When is Goldenhar syndrome diagnosed?

There is no one genetic or chromosomal test to identify Goldenhar syndrome. A doctor or specialist makes a diagnosis by examining an infant or child and identifying the symptoms of the syndrome. When it is diagnosed, the child usually needs to have further tests, such as hearing and vision tests.

What does Goldenhar syndrome do?

Goldenhar syndrome is a rare congenital condition. (Congenital means it’s present at birth.) It’s a type of craniofacial condition, meaning it causes irregularities in the shape or development of your face or head. Specifically, Goldenhar syndrome typically affects your spine, ears and eyes.

Is there a cure for Goldenhar syndrome?

Goldenhar syndrome cannot be cured. Treatment is focused on helping people live their best life possible with the disease. This can include speech therapy, treatments to address feeding difficulties, hearing and vision problems, heart surgery, ear reconstruction, and jaw surgery.

What causes morning glory syndrome?

Morning glory syndrome (MGS) is a congenital optic disc anomaly caused by abnormal closure of the embryonic fissure with outward herniation of the disc and peripapillary tissues.

What does Goldenhar syndrome look like?

Children with Goldenhar syndrome are born with partially formed or totally absent ears, benign growths of the eye, and spinal deformities such as scoliosis. Goldenhar syndrome may also affect the facial structure and other body organs such as heart, kidney, lungs and nervous system.

Can you fix Morning Glory Syndrome?

Management. There is no treatment for morning glory disc anomaly. However it is important to optimize visual acuity to prevent amblyopia. Dilated fundus exams should be done to detect serous retinal detachments that tend to originate in the peripapillary area and extends to the posterior pole.

How common is Morning Glory Syndrome?

Morning glory syndrome (MGS) is a congenital optic disc anomaly. It was named by Peter Kindler who observed that the fundus resembled a blossoming morning glory [1]. The prevalence of MGS has been reported to be 2.6/100,000 [2].

How many people in the world have morning glory syndrome?

What is an optic pit?

Optic Pits (also known as optic nerve pits, optic disc pits, or less commonly optic holes) are congenital defects presumably arising from the failure of fetal fissure closure in embryogenesis.