1. Presented By Danielle, Autumn and Blanca
Goldenhar’s Syndrome 1
Presented By Danielle, Autumn and Blanca

2. Goldenhar Syndrome was first discovered by Dr
Goldenhar Syndrome was first discovered by Dr. Maurice Goldenhar in 1952.
Another name for Goldenhar Syndrome is Oculoauriculo-vertebral spectrum.
Oculo-eye ***bodily areas that are most affected
Auriculo-ear

3. Definition of Goldenhars Syndrome
Goldenhar Syndrome is a congenital condition that is associated with abnormalities of the head and the bones of the spinal column.
The abnormalities of the head can include differences with the eyes, ears, facial bones, and mouth. Common clinical manifestations include limbal dermoids, preauricular skin tags, and strabismus.

4. Limbal dermoids are benign congenital tumors that contain choristomatous tissue (tissue not found normally at that site). They appear most frequently at the inferior temporal quadrant of the corneal limbus.
Preauricular skin tags are a common minor congenital abnormality that can usually be removed with minor surgery. If the stalk of the skin tag extends deep into the subcutaneous tissue then it may require a more complex surgery.
Strabismus is a functional defect where the eyes are misaligned and may point in different directions making it hard to focus on one object. This often causes depth perception problems or double vision.

5. Multiple Surgeries at Birth
Born with esophagus and heart defects.
Reconstruction of esophagus at a few days old.

6. Characteristics
Individuals with Goldenhars Syndrome have physical differences that are present at birth. The abnormalities can be severe or mild. Some cases are limited to one or both sides of the face.
Facial bones, including jaw bones (Mandible) and cheek bones (Maxilla) can be under developed (Hemifacial Microsomia).

7. Characteristics
Hemifacial Microsomia and Goldenhars Syndrome have very similar causes. Some children are born with symptoms from both Goldenhars Syndrome and Hemifacial Microsomia.
Some patients will have continuing issues with internal organs, especially the heart, kidneys, and lungs. Typically, the organ is underdeveloped or not present on one side.
10% of internal organ problems occur bilaterally and affect both sides of the organ.

8. Causes The exact cause of Goldenhar syndrome is unknown.
The majority of cases occur randomly although it has been reported in different generations within a family. Abnormal genes passed from one or both parents may be responsible.
In other cases, it is thought to be caused by a lack of blood to the fetus at some point during its development.
It is a birth defect and like other birth defects; it may be influenced by environmental factors such as such as exposure to alcohol, certain medications, diseases, infections, or poor diet. For example, low folic acid levels during a women's pregnancy have been linked to children born with a cleft palate and/or cleft lip; two symptoms that can occur with Goldenhar syndrome.

9. Could Goldenhars Syndrome be passed on?
The chances of having another child with Goldenhars Syndrome is less than 1%.
A child with Goldenhars has about a 3% chance of passing it on to his or her children.
This occurs one in every live births. Males are affected more then females.
This is seen in all cultures and ethnic groups.

10. In addition to physical characteristics the following may occur:
Hearing problems
Weakness in moving the side of the face that is smaller.
Dental problems-the soft palate may move to the unaffected side of face.
The tongue may be smaller on the affected side of face.
Fusion of the bones of the neck required.

11. Treatment
Treatment usually consists of surgical intervention such as; jaw distraction / bone grafts, occular dermoid de-bulking, repairing cleft palate / lip, repairing heart malformations, spinal surgery, and hearing aids placed in one or both ears.
Specialists: Otolaryngology, Otology / Neurotology, Plastic SX
Surgeries could be helpful in lowering the jaw on the affected side, lengthening of the jaw, rebuilding the ear canal, physical improvements, adding tissues to the face, and repairing functions of internal organs.
Some patients will require assistance as they grow by means of glasses, hearing aids or multiple heart surgeries.

12. Support Resources Goldenhars Syndrome Support Network
1. Conditions Associated with Goldenhars Syndrome
2. Cleft/Craniofacial Teams
3. State Resource Guide (includes Medical Financing Links)
4. Pathfinder partner Organizations
5. The Journey
6. Feeding and Nutrition
7. Post-Operative Care
8. Travel and Accommodations
9. Insurance
10. Advocacy
11. Surgical Resources
Goldenhars Syndrome Support Network
Making a world difference in a world of facial differences is a program of ameriface, a cleft craniofacial advocacy organization.
The California Craniofacial Institute.
Offers the best in evaluation, treatment planning and surgery for children and adults suffering from complex craniofacial deformities of the skull, face and jaws.
Also the California Craniofacial Institute. Offer the best in
Also the California Craniofacial Institute. Offer the best in
evaluation, treatment planning and surgery for children and
evaluation, treatment planning and surgery for children and
adults suffering from complex craniofacial deformities.-
adults suffering from complex craniofacial deformities.-
Deformities of the skull, face and jaws.
Deformities of the skull, face and jaws.