Goldenhar syndrome (also called oculo-auriculo-vertebral (OAV) syndrome) is an uncommon congenital defectcharacterized by incomplete development of the nose, ear, soft palate, lip, and mandible. It's connected with anomalous development of the first branchial arch and second branchial arch. Common clinical signs include limbal dermoids, preauricular skin tags, and strabismus.

The expression may be used interchangeably with hemifacial microsomia, though this definition is generally reserved for cases without inner organ and vertebrae disturbance.

It affects between 1/3,500 and 1/26,000 live births, with a male:female ratio of 3:2.

Goldenhar disease is a condition that is present at birth and mainly affects the development of the eye, ear, and spine. The main sign and symptoms are facial asymmetry (one side of the face is different from the other), a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Goldenhar disease may also affect the heart, lungs, kidneys, and central nervous system. It is due to problems that occur when the fetus is forming within the womb of the mother, in structures known as the first and second brachial arch. These structures will develop to form the neck and the head. The cause is still unknown. Goldenhar syndrome is part of a group of conditions known as craniofacial microsomia. It is not known whether the conditions included in the group really are different conditions or part of the same problem with different degrees of severity. Treatment is age-dependent, with interventions at appropriate stages during the growth and development of the skull and face.

Signs and symptoms

Chief markers of Goldenhar syndrome are incomplete development of the nose, ear, soft palate, lip, and mandibleon typically 1 side of the human body. Furthermore, some patients may have growing difficulties with inner organs, particularly kidneys, heart, and blood vessels. Normally, the organ will either not be present on a single side or will be underdeveloped. Be aware that while it's more common for there to be difficulties on just 1 side, it's been understood for defects to occur bilaterally (approximate prevalence 10 percent of verified GS cases).

Other issues may include acute scoliosis (twisting of the vertebrae), limbal dermoids, and hearing loss (see hearing loss using craniofacial syndromes), along with deafness or blindness in one or both ears/eyes, Granulosa cell tumors may be connected also.

Causes

The reason behind Goldenhar syndrome is mainly unknown. But, it's considered to be multifactorial, even though there can be a genetic element, which might account for specific familial patterns. It's been suggested that there's a branchial arch development dilemma late in the first trimester.

An increase in Goldenhar syndrome at the children of Gulf War specialists was indicated, but the gap has been demonstrated to be statistically insignificant.

Treatment

Treatment is usually restricted to such operative intervention as might be essential to aid the child to create e.g. jaw distraction/bone grafts, ocular dermoid debulking , fixing cleft palate/lip, repairing heart malformations or spinal operation. Some individuals with Goldenhar syndrome may need help since they grow by way of hearing aids or eyeglasses.

Stem cell grafting (uterus tissue grafting) was successfully utilized to "reprogram" eye dermoids, effectively preventing the regrowth of eye dermoids. These cells that rise on the eye are "mis-programmed" cells (occasionally tooth or nail tissues rather than eye tissues).



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