What causes Goldenhar syndrome?

Causes of Goldenhar syndrome Goldenhar syndrome is a congenital disease, meaning that it is present in infants when they are born. The cause is an abnormality in a chromosome. It is usually not inherited. In about 1 or 2 percent of cases, though, the condition is inherited as a genetic disorder.

How is Goldenhar syndrome treated?

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.

Does Goldenhar syndrome affect the brain?

Goldenhar syndrome may also affect the face and other body organs, such as heart, kidney, lungs and nervous system (the brain, spinal cord and nerves working together). In most cases, the deformity only affects one side of the body.

Is Goldenhar syndrome progressive?

Scoliosis and other spinal deformities have been associated with this syndrome and can sometimes be progressive and require treatment [6]. Vertebral abnormalities and congenital spinal deformities are also common in Goldenhar syndrome [7,8,9].

What is Crouzon syndrome?

Crouzon syndrome is a rare genetic disorder. It is a form of craniosynostosis, a condition in which there is premature fusion of the fibrous joints (sutures) between certain bones of the skull. The sutures allow an infant’s head to grow and expand. Eventually, these bones fuse together to form the skull.

Is Goldenhar syndrome a rare disease?

Goldenhar syndrome is a rare congenital condition characterized by abnormal development of the eye, ear and spine. Also known as oculo-auriculo-vertebral spectrum or OAV, Goldenhar syndrome was first documented in 1952 by Maurice Goldenhar, an ophthalmologist and general practitioner.

What is the life expectancy of someone with Charge Syndrome?

LIFE EXPECTANCY IN CHARGE Children with CHARGE have been shown to have a 70% survival rate to five years of age (from actuarial survival analysis). 1,2 The death rate is the highest in the first year of life.

Is Pierre Robin syndrome a rare disease?

Pierre Robin sequence is also known as Pierre Robin syndrome or Pierre Robin malformation. It is a rare congenital birth defect characterized by an underdeveloped jaw, backward displacement of the tongue and upper airway obstruction. Cleft palate is also commonly present in children with Pierre Robin sequence.

Do you grow out of Pierre Robin syndrome?

Most children with Pierre Robin Sequence grow up normally, even if they start their lives with quite severe problems. All babies with Pierre Robin Sequence will have some difficulties, but these will vary from child to child. Some have no problems with breathing and only minor feeding difficulties.

Should people with Crouzon syndrome have children?

With advanced planning and appropriate testing, it may be possible to prevent having a child with Crouzon syndrome. During a pregnancy: If the genetic change (mutation) in an affected family member has been identified, prenatal genetic testing may be possible during pregnancy.

Is Crouzon syndrome treatable?

How is it treated? Children with mild Crouzon syndrome may not need to be treated. Those with more severe cases should see craniofacial specialists, doctors who treat disorders of the skull and face. In more severe cases, doctors can perform surgery to open up the sutures and give the brain room to grow.

Are there any facial deformities associated with Goldenhar syndrome?

The deformities associated with Goldenhar syndrome are usually restricted to the head and spine. About 30% of people who have Goldenhar syndrome suffer from bilateral facial deformities. In these cases, the right lateral part of the face is typically affected more seriously. The symptoms of Goldenhar syndrome can be very different.

Are there any other disorders similar to microtia?

This disorder is quite similar with other ear problems such as Treacher-Collins Syndrome and Goldenhar Syndrome. In some cases, the ear drum, bones and ear canals are also affected along with the outer part of the ear. This sometimes leads to severe hear loss.

What happens to your ear when you have microtia?

A person suffering from this deformity usually experiences underdeveloped or absent ears. This disorder is quite similar with other ear problems such as Treacher-Collins Syndrome and Goldenhar Syndrome. In some cases, the ear drum, bones and ear canals are also affected along with the outer part of the ear. This sometimes leads to severe hear loss.