How is Goldenhar syndrome treated?

How is Goldenhar syndrome treated?

Treatments for Goldenhar syndrome Children may need to work with a hearing specialist or speech therapist for hearing issues, or may need a hearing aid. If there are vision problems, corrective surgery or glasses may be needed. Surgery may also be needed to correct heart or spinal defects.

What is Goldenhar syndrome?

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.

Is Goldenhar syndrome a disability?

Approximately 15% of individuals with Goldenhar syndrome have an intellectual disability. The likelihood for an intellectual disability increases if the individual has microphthalmia. Heart defects and kidney defects can also occur with Goldenhar syndrome.

How is Goldenhar syndrome diagnosed?

The genetic basis for Goldenhar syndrome is not fully understood, so diagnosis is generally done by examining a child for identifiable, physical signs of Goldenhar syndrome. This means the syndrome is a clinical diagnosis made by a pediatrician or genetics specialist.

What does charge Syndrome stand for?

CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities.

What is hemifacial microsomia?

Hemifacial microsomia (HFM), also called craniofacial microsomia or sometimes “Goldenhar syndrome,” is a condition in which half of one side of the face is underdeveloped and does not grow normally. “Hemifacial” means one side of the face. “Microsomia” means smallness.

What is the life expectancy of someone with CHARGE syndrome?

Children with CHARGE have been shown to have a 70% survival rate to five years of age (from actuarial survival analysis).

Does hemifacial microsomia get worse with age?

We also find that there is virtually no “catch up” growth on the affected side of the face and that these patients always become more deformed with age. The psychological problems also increase with time and progression of the facial deformity.

Can hemifacial microsomia be treated?

Research shows hemifacial microsomia treatment can help patients improve their facial appearance. Yet, treatment must be performed as early as possible. Otherwise, if HFM symptoms linger for an extended period of time, they can cause severe facial deformities.

What is the medical term for Goldenhar syndrome?

Also called as facio-auriculo-vertebral dysplasia, unilateral craniofacial microsomia, first and second branchial arch syndrome, lateral facial dysplasia, otomandibular dysostosis, velocardiofacial syndrome, and unilateral mandibulofacial dysostosis.

How many children are born with Goldenhar syndrome?

It affects one in every 3,000-5,000 births. 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.

When to see an orthopedic surgeon for Goldenhar syndrome?

Your child with Goldenhar syndrome should continue to be monitored by an orthopaedic physician into adulthood. If your child had spinal fusion surgery, he or she will need to see the orthopaedic surgeon about one to two weeks after surgery, then again at three and six months post-surgery.

What kind of scoliosis does Goldenhar Syndrome cause?

About half of people with Goldenhar syndrome will have a form of congenital scoliosis. Spine anomalies lead to incomplete growth and pulmonary disorders. The origin of Goldenhar syndrome is unknown at this time.