Doctor insights on:
There can be a few: There can be quite a few. There is a website called craniofacial.net that is from the International Cranifacial Institute that has a good amount of information on this syndrome. ...Read more
My first cousin's baby has been diagnosed with Goldenhar/ OAV syndrome. No-one else in the family has it. Is it something I could pass to my children?
No: If your cousin's baby is the first in your family, it is very nearly impossible for you to carry a recessive gene (most of the Goldenhar cases are sporadic, that is, happen randomly). Only a tiny number are inherited and this small number of Goldenhar cases are identified when several members of a family are affected. Your children are very safe. ...Read more
Yes, but why?: It is a benign epibulbar dermoid of the sclera, cartilaginous ear tags and usually microtia, underdevelopment of the nose, soft palate and lip on the same side as the dermoid, as well as underdeveloped mandible on that side, Belgian ophthalmologist Maurice Goldenhar documented the association in 1952. It is now known to be a partial expression of Oculo-auriculo-vertebral spectrum. ...Read more
Usually a team: Look for craniofacial clinics associated with medical schools. These are usually staffed by ENT doctors, plastic surgeons, audiologists, speech/language therapists, geneticists, developmental pediatricians & medical social workers. Pediatric specialists in ophthalmology, nephrology, cardiology, psychology & orthopedics are often involved in treatment. See ameriface or www.Goldenharsyndrome.Org. ...Read moreSee 1 more doctor answer
Multiple congenital: Anomalies occur in oculoauriculovertebral spectrum. Unilateral external ear deformity ranges from absence to microtia ( small ear), middle ear abnormality with some degree of hearing loss, hemifacial microsomia ( small size of one side), macrostomia ( large mouth), microphthalmia (small eye), vertebral abnormalities. Some have heart & kidney defects. 10% have intellectual disability. ...Read moreSee 2 more doctor answers
Depends on: The presence of serious congenital heart or kidney defects, narrowing of the ateries to the kidneys causing high blood pressure, vertebral abnormalities causing severe scoliosis that can compromise lung function. These are seen in the most severe cases. Early detection & medical or surgical treatment of these associated problems greatly reduce morbidity ( illness) & mortality. ...Read moreSee 2 more doctor answers
No: Goldenhar syndrome is thought to be a genetic condition so there is no treatment while the baby is still inside. I recommend you ask your obgyn for a referral to a genetic counselor who will be able to guide you on treatment options for this rare condition. ...Read moreSee 2 more doctor answers
No: Down's Syndrome is caused by a translocation of the 21st chromosome. The cause of Goldenhar syndrome is not exactly clear. Totally unrelated syndromes. ...Read more
If you have a dermoid due to goldenhar syndrom, can you use some contact lenses for cosmetical purpose?
Depends: Depends upon where the dermoid is located. If it is overlapping the cornea, there is no practical lens that will fit. If it is on the brow or lid, a contact can be worn but will not disquise the dermoid. Discuss this with your ophthalmologist and see what is the best solution. ...Read more
My niece was diagnosed at birth with goldenhar syndrome. Does every one with goldenhar syndrome has or will develop scoliosis?
Not specificly: The syndrome is also known as the oculo-auriculo-vertebral syndrome since a non- random association of eye/ear/& vertebral anomalies is seen.Not all patients exhibit all features.While the neck or lower back vertebrae are often misshapen in some, which can trigger scoliosis, not all will. Also, as anyone ages they can develop scoliosis from factors unrelated to the syndrome. ...Read moreSee 1 more doctor answer