Goldenhar syndrome, also known as oculo-auriculo-vertebral (OAV) spectrum, is a rare congenital condition. The underlying cause of the condition is not completely understood, but some evidence suggests a genetic link. Ultimately, an affected fetus will not properly form structures in the head and neck.
Symptoms
Symptoms of Goldenhar syndrome include spinal deformities, leading to scoliosis (sideways curve), kyphosis (forward curve) or both. Abnormal rib structure, including missing ribs or merged ribs, which may lead to growth issues and decreased lung function, are also symptoms of this syndrome. Additionally, craniofacial deformities — including underdeveloped jaw and cheekbones, cleft lip and/or palate, a wide mouth, eye abnormalities and partially formed or absence of ears (microtia) — are common signs of Goldenhar syndrome.
Other functional issues include:
- Hearing loss
- Heart problems
- Respiratory issues
- Kidney and urology issues
- Central nervous system defects
Diagnosis
Diagnosis can be made through a series of tests that may include X-rays, CT scans, MRIs, ultrasounds and genetic testing.
Treatment
Treatment options vary based on the severity of your child’s symptoms. Some children only need medical monitoring while others will require surgery.
Many symptoms can be identified at birth and can be treated while your child is young. These may include limb and craniofacial deformities. All craniofacial deformities will be treated by our North Carolina Cleft and Craniofacial Center team members, who provide comprehensive care through reconstruction, surgery, therapy and future checkups. Other issues, such as spinal deformities, dislocated hips and joint disorders, may become noticeable as your child grows and may be referred to other physicians with whom we collaborate.
