Goldenhar syndrome refers to a rare congenital defect, which is featured by an incomplete development of the soft palate, the ears, the nose, as well as the lips. It is linked with anomalous development in the first branchial arch, as well as the second branchial arch. The condition was first explained in the year 1952 by Maurice Goldenhar.

Quite often the term is used interchangeably with another condition, i.e. Hemifacial Microsomia. However, this definition is generally reserved for patients without internal organ or verterbrae disruption. The condition is believed to be present in every 1 out of 3500 live births in the UK.

As it is, what causes Goldenhar Syndrome is still a mystery. However, it is mostly believed to be multifactorial, although there have been recent revelations on account of similar patterns. Apart from that, it has been revealed that there is also a brachial arch development concern late in the very first trimester, apart from anecdotal evidence, which links it to the exposure to some toxins before or during the course of the pregnancy.

Along with that, there are circumstantial evidence, which reveal that the incidence of Goldenhar syndrome is higher in cases of children of Gulf War veterans. However, a major limitation in this regard has been in the form of the involvement of small numbers, which make the interpretation of the data quite difficult.

Major characteristics of Goldenhar syndrome include incomplete growth of the nose, ear, soft palate, as well as the lips. Apart from that, it is usually found to affect one side of the body. Not only that, a majority of the patients with this syndrome will have growing concerns in regard to internal organs, particularly the kidneys, the heart and the lungs. In most cases, the organ would either not exist on one of the side or would be grossly underdeveloped.

Treatment usually involves surgical options, as might be necessary for helping in the development of the child. This may include repairing of the cleft palate or the lip, jaw distraction or bone grafts, repairing heart malformations, occular dermoid debulking, as well as spinal surgery. Hearing aides might also be necessary, to deal with hearing impairment.

As it is, nine out of ten patients suffering from Goldenhar syndrome would require assistance because the syndrome develops by way of hearing aides, spectacles, wheelchair, walker, nurses aide, apart from generalized aid, in order to function properly on a daily basis.

Tags: congenital defect, goldenhar syndrome, incomplete development