Goldenhar syndrome

Did You Know?

• An increase in Goldenhar syndrome in the children of Gulf War veterans has been suggested, but the difference was shown to be statistically insignificant.
• The cause is thought to be multifactorial, although there may be a genetic component accounting for certain familial patterns.
• It has been suggested that there is a branchial arch development issue late in the first trimester.

Signs and symptoms

Chief markers include incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side. Some patients have growing issues with internal organs, especially heart, kidneys, and lungs, where the organ may be absent or underdeveloped on one side. Defects occur bilaterally in about 10% of confirmed cases. Other problems can include severe scoliosis, limbal dermoids, hearing loss, and deafness or blindness. Granulosa cell tumors may be associated, although rare.

Diagnosis

Goldenhar syndrome lacks universally agreed-upon minimal diagnostic criteria. It primarily involves underdevelopment of first and second branchial arch structures, causing hemifacial microsomia. Presentation varies widely, potentially including eye issues like epibulbar dermoids or microphthalmia; ear and nose problems such as microtia or preauricular tags; skeletal issues like mandibular deformities or scoliosis; and heart or kidney defects.

Treatment

Treatment is usually confined to surgical intervention as necessary, such as jaw distraction or bone grafts, ocular dermoid debulking, repairing cleft palate or lip, heart malformations, or spinal surgery. Some patients require hearing aids or glasses. Stem cell grafting (womb tissue grafting) has been successfully used to reprogram eye dermoids, halting their regrowth.