Goldenhar syndrome is a rare

congenital defect A birth defect, also known as a congenital disorder, is an abnormal condition that is present at childbirth, birth regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellect ...

characterized by incomplete development of the ear, nose,

soft palate The soft palate (also known as the velum, palatal velum, or muscular palate) is, in mammals, the soft tissue constituting the back of the roof of the mouth. The soft palate is part of the palate of the mouth; the other part is the hard palate. ...

, lip and

mandible In anatomy, the mandible, lower jaw or jawbone is the largest, strongest and lowest bone in the human facial skeleton. It forms the lower jaw and holds the lower tooth, teeth in place. The mandible sits beneath the maxilla. It is the only movabl ...

on usually one side of the body. Common clinical manifestations include limbal dermoids, preauricular

skin tags A skin tag, or acrochordon (pl. acrochorda), is a small benign tumor that forms primarily in areas where the skin forms creases (or rubs together), such as the neck, armpit and groin. They may also occur on the face, usually on the eyelids. Tho ...

and

strabismus Strabismus is a vision disorder in which the eyes do not properly align with each other when looking at an object. The eye that is focused on an object can alternate. The condition may be present occasionally or constantly. If present during a ...

. It is associated with anomalous development of the

first branchial arch The pharyngeal arches, also known as visceral arches'','' are structures seen in the embryonic development of vertebrates that are recognisable precursors for many structures. In fish, the arches are known as the branchial arches, or gill arch ...

and second branchial arch. The term is sometimes used interchangeably with

hemifacial microsomia Hemifacial microsomia (HFM) is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible. It usually occurs on one side of the face, but both sides are sometimes affected. ...

, although this definition is usually reserved for cases without internal organ and vertebrae disruption. It affects between 1 in 3,500 and 1 in 5,600 live births, with a male-to-female ratio of 3:2.

Signs and symptoms

Chief markers of Goldenhar syndrome are incomplete development of the ear, nose,

, lip, and

on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. While it is more usual for there to be problems on only one side, it has been known for defects to occur bilaterally (approximate incidence 10% of confirmed GS cases). Other problems can include severe

scoliosis Scoliosis is a condition in which a person's spine has a sideways curve. The curve is usually "S"- or "C"-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not t ...

(twisting of the vertebrae), limbal dermoids and

hearing loss Hearing loss is a partial or total inability to Hearing, hear. Hearing loss may be present at birth or acquired at any time afterwards. Hearing loss may occur in one or both ears. In children, hearing problems can affect the ability to Language ...

(see

hearing loss with craniofacial syndromes Hearing loss with craniofacial syndromes is a common occurrence. Many of these multianomaly disorders involve structural malformations of the outer ear, outer or middle ear, making a significant hearing loss highly likely. Treacher Collins syndrom ...

), and deafness or blindness in one or both ears/eyes.

Granulosa cell tumor Granulosa cell tumours are tumours that arise from granulosa cells. They are estrogen secreting tumours and present as large, complex, ovarian masses. These tumours are part of the sex cord-gonadal stromal tumour or non-epithelial group of tumours ...

s may be associated as well.

Causes

The cause of Goldenhar syndrome is largely unknown. However, it is thought to be multifactorial, although there may be a genetic component, which would account for certain familial patterns. It has been suggested that there is a branchial arch development issue late in the first trimester. An increase in Goldenhar syndrome in the children of

Gulf War The Gulf War was a 1990–1991 armed campaign waged by a 35-country military coalition in response to the Iraqi invasion of Kuwait. Spearheaded by the United States, the coalition's efforts against Iraq were carried out in two key phases: ...

veterans has been suggested, but the difference was shown to be statistically insignificant.

Diagnosis

Diagnosis is based on clinical features. General features include unilateral facial asymmetry. Ocular abnormalities include limbal dermoids and

. Otorhinolaryngological features include

microtia Microtia is a congenital deformity where the auricle (external ear) is underdeveloped. A completely undeveloped pinna is referred to as anotia. Because microtia and anotia have the same origin, it can be referred to as microtia-anotia. Microtia ...

, partial to complete atresia of external acoustic meatus, preauricular

deafness Deafness has varying definitions in cultural and medical contexts. In medical contexts, the meaning of deafness is hearing loss that precludes a person from understanding spoken language, an audiological condition. In this context it is written ...

, and macrosomia. Skeletal abnormalities include mandibular deformities,

. Other organ abnormalities include cardiac defects and renal abnormalities.

Treatment

Treatment is usually confined to such surgical intervention as may be necessary to help the child to develop e.g. jaw distraction/bone grafts, ocular dermoid debulking (see below), repairing cleft palate/lip, repairing heart malformations or spinal surgery. Some patients with Goldenhar syndrome will require assistance as they grow by means of

hearing aids A hearing aid is a device designed to improve hearing by making sound audible to a person with hearing loss. Hearing aids are classified as medical devices in most countries, and regulated by the respective regulations. Small audio amplifiers su ...

or glasses. Stem cell grafting (womb tissue grafting) has been successfully used to "reprogram" eye dermoids, effectively halting the regrowth of eye dermoids. These tissues that grow on the eye are "mis-programmed" cells (sometimes tooth or nail cells instead of eye cells).

Epidemiology

Prevalence ranges from 1 in 3,500 to 5,600 live births. Male-female ratio is found to be 3:2.

Eponym

The condition was documented in 1952 by Belgian–American ophthalmologist

Maurice Goldenhar Maurice Goldenhar (January 15, 1924 – September 11, 2001) was a Belgian– American ophthalmologist and general practitioner. He emigrated from Belgium to the United States in 1940. He later returned to Europe for medical studies, and then r ...

(1924–2001).M. Goldenhar. Associations malformatives de l’oeil et de l’oreille, en particulier le syndrome dermoïde epibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. Journal de génétique humaine, Genève, 1952, 1: 243-282.

References

External links

{{Phakomatoses and other congenital malformations not elsewhere classified Congenital disorders Rare syndromes Syndromes with tumors Syndromes with musculoskeletal abnormalities Syndromes with craniofacial abnormalities