1. What is Goldenhar Syndrome?
Goldenhar Syndrome is a congenital birth defect that affects the face. Usually, one side of the face is affected by deformities. Goldenhar Syndrome is also known as Oculoauicular Dysplasia or OAV. Because there are so many symptoms of Goldenhar, even when they are mild symptoms, some children may be diagnosed as having Goldenhar Syndrome only to find out years later that they did not have Goldenhar Syndrome. Some characteristics of Goldenhar Syndrome are:
- underdeveloped ears or missing ears (Microtia)
- underdeveloped jaw or an asymmetrical jaw that is lower on one side of the face (Hemifacial Microsomia)
- a hole or gap in the iris of the eye called a (Coloboma) which could cause vision problems
- a missing eye
- heart defects
- undescended testicles (Genital Hypoplasia)
- stunted growth or in the lower percent of the growth chart
- usually affect one side of the face or in rare cases both side of the face
- hydrocephaly or microcephaly
- cleft palate and cleft lip
- overly developed or fused vertebra
- scoliosis leading to restrictive lung disease
- hearing loss due to absence of an ear canal (Atresia)
- skin tags around the ear (such as lower down on the cheek)
- some may have mild retardation or experience learning dificulties
- in severe cases, the heart and kidney may not fully function
- obstructive sleep apnea
Sometimes, characteristics can be termed “CHARGE, a rare condition that stands for:
C – coloboma
H – heart defects
A – atresia of the choanae (problems with the nose passages)
R – retarded growth and developments
G – genital hypoplasia (undescended testicles)
E – ear abnormalities
2. Is Goldenhar Syndrome genetic? Yes, but not necessarily.
It is uncertain why Goldenhar Syndrome occurs. There is no sound scientific evidence suggesting that Goldenhar Syndrome is genetic. There is also no evidence that Goldenhar Syndrome is caused by anything the mother did before or during her prgnancy. There is some evidence where some environmental factors may cause an increased incidence of Goldehnar among the children of Gulf War Veterans. If you have a child with Goldenhar Syndrome and would like to have another child, the chances of having another child with Goldenhar is approximately less than 1%. If your your child has Goldenhar Syndrome, there is a 3% chance that your child will pass it on to his/her children.
3. How does Goldenhar Syndrome affect my child?
Children having Goldenhar syndrome can grow to become normal functioning adults and live normal lives. An individual affected by Goldenhar Syndrome will have normal intelligence. However, someone with Goldenhar Syndrome may experience problems with hearing loss, muscle tone weakness on the side of the face that is pulled upward, dental problems where teeth may not all come in or on one side of the face only, have a soft palate that will require surgical correction and may have some trouble eating and speaking as the tongue may be smaller on the affected side of the face having Hemifacial Microsomia. Some bones in the back of the neck may be fused together. Someone with Goldenhar Syndrome may also have vision problems depending on how big the hole or gap is in the iris causing a change to typical vision.
4. Can my child have surgery? Yes.
Your child can have surgery through the help of a couple of specialists.
A craniofacial surgeon can help your child with jaw reconstructive surgery through the use of bone grafts that can help lengthen his/her jaw. It is often suggested to wait for this type of surgery until after the pubescent years, anywhere from age thirteen to seventeen. The reason for waiting is because your child is still developing and their skull and face is still growing. It is best to wait until the bone growth has become more stable. However, it is strongly suggested to begin taking your child to a pediatric craniofacial surgeon following his/her birth. It is possible the surgeon may consider using a jaw distraction insert which can be used on children at early years of age and helps to stretch their jaw bone a bit more or to help prevent their jaw bone from pulling upward more as he/she continues to grow. Regardless, please know that you can have surgery for your child that will help to straighten their jaw line out. It is also important to take your child to a craniofacial surgeon as some children have difficulty eating and breathing because of their crooked jaw line. A surgeon can help explain what options you have that can help your little one be more comfortable until you are ready for surgery if that is something that you are considering for your child.
Rib Graft and Medpor Ear Reconstructive Surgery:
Another surgery that may be considered to help your child is ear reconstructive surgery. There are currently tow techniques to choose from: Rib Graft which involves taking a section of your child’s rib to construct a cartilage framework that is then shaped into an ear and then is covered by a skin graft. Rib Graft surgery can be achieved anywhere from one stage to four or more depending on the difficult of the surgery. Some issues that may require additional stages of surgery are: dealing with a higher or lower hair line and making sure that the newly reconstructed ear is centered and symmetrical to the biological non-affected ear due to an irregular shaped skull such as in individuals with Goldenhar Syndrome. A Rig Graft ear will feel pain, experience bleeding, and heal. The earliest age for Rig Graft surgery is age five. However, it is more common during the ages between six and ten. There are some Rig Graft surgeons who can perform surgery in just one stage.
For Medpor, some of the same circumstances will be taken into consideration. However, Medpor surgery can be achieved in one stage of surgery. Medpor differs from Rib Graft by not requiring a rib graft. In place of the rib graft tissue, a synthetic framework is used that is made up of a porous polyethylene material. The already shaped Medpor ear is then sculpted a bit more to match the other biological ear that is not affected and is then covered with a skin graft. A Medpor ear will feel pain, experience bleeding, and heal. Medpor surgery can be performed as early as age three.
Depending on the severity of Goldenhar Syndrome with Hemifacial Microsomia, Microtia and Atresia including additional facial asymmetry, it may be necessary to contact a maxillofacial surgeon or facial plastic surgeon. A facial plastic surgeon can help build up parts of the cheekbone, receded chin, forehead, orbits around the eyes and nose if needed in order to help provide better facial symmetry.
Who can I speak with about Goldenhar Syndrome?
If you are looking for someone to speak with about Goldenhar Syndrome, ask questions or just simply connect with other families and individuals who have Goldenhar Syndrome, please contact the Goldeanhar Syndrome Organization at the World Craniofacial Foundation at www.worldcf.org
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