Goldenhar syndrome is a rare

congenital defect A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth de ...

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 biological tissue, 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 ...

, lip and

mandible In jawed vertebrates, the mandible (from the Latin ''mandibula'', 'for chewing'), lower jaw, or jawbone is a bone that makes up the lowerand typically more mobilecomponent of the mouth (the upper jaw being known as the maxilla). The jawbone i ...

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

strabismus Strabismus is an eye disorder in which the eyes do not properly align with each other when looking at an object. The eye that is pointed at 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 transient structures seen in the Animal embryonic development, embryonic development of humans and other vertebrates, that are recognisable precursors for many structures. In fish, t ...

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 (: scolioses) is a condition in which a person's Vertebral column, spine has an irregular curve in the coronal plane. The curve is usually S- or C-shaped over three dimensions. In some, the degree of curve is stable, while in others ...

(twisting of the vertebrae), limbal dermoids and

hearing loss Hearing loss is a partial or total inability to 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 acquire spo ...

(see hearing loss with craniofacial syndromes), and deafness or blindness in one or both ears/eyes.

Granulosa cell tumor Granulosa cell tumours are tumor, 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 ...

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 , combatant2 = , commander1 = , commander2 = , strength1 = Over 950,000 soldiers3,113 tanks1,800 aircraft2,200 artillery systems , page = https://www.govinfo.gov/content/pkg/GAOREPORTS-PEMD-96- ...

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

Diagnosis

No general consensus on the minimal diagnostic criteria exists.Beleza-Meireles A, Clayton-Smith J, Saraiva JM, et alOculo-auriculo-vertebral spectrum: a review of the literature and genetic updateJournal of Medical Genetics 2014;51:635-645. The syndrome is characterized by hemifacial microsomia due to underdevelopment of structures derived from the 1st and 2nd branchial arches such as eyes, ears, palate, mandible. However, the presentation of the syndrome is highly variable. Some of its features may include:Bogusiak, K., Puch, A., & Arkuszewski, P. (2017). Goldenhar syndrome: current perspectives. World Journal of Pediatrics : WJP, 13(5), 405–415. https://doi.org/10.1007/s12519-017-0048-z * Ocular abnormalities: epibulbar dermoids, microphthalmia, anophthalmia, eye asymmetry or dysmorphy. * Otorhinolaryngological abnormalities:

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

anotia Anotia ("no ear") describes a rare congenital deformity that involves the complete absence of the auricle, the outer projected portion of the ear, and narrowing or absence of the ear canal. This contrasts with microtia, in which a small part of ...

, partial to complete atresia of external acoustic meatus, preauricular

appendages An appendage (or outgrowth) is an external body part or natural prolongation that protrudes from an organism's body such as an arm or a leg. Protrusions from single-celled bacteria and archaea are known as cell-surface appendages or surface app ...

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 writte ...

, and microsomia. * Skeletal abnormalities: mandibular deformities,

torticollis Torticollis, also known as wry neck, is an extremely painful, dystonic condition defined by an abnormal, asymmetrical head or neck position, which may be due to a variety of causes. The term ''torticollis'' is derived . The most common case ha ...

kyphosis Kyphosis () is an abnormally excessive convex curvature of the Spinal column, spine as it occurs in the Thoracic spine, thoracic and sacrum, sacral regions. Abnormal inward concave ''lordotic'' curving of the Cervical spine, cervical and Lumba ...

. * Other organ abnormalities: cardiac defects (most frequently

atrial The atrium (; : atria) is one of the two upper chambers in the heart that receives blood from the circulatory system. The blood in the atria is pumped into the heart ventricles through the atrioventricular mitral and tricuspid heart valves. ...

septal defect and

ventricular septal defect A ventricular septal defect (VSD) is a defect in the ventricular septum, the wall dividing the left and right ventricles of the heart. It's a common heart problem present at birth ( congenital heart defect). The extent of the opening may vary ...

s), and renal defects such as agenesis or multicystic kidneys. * Other features: Small stature, delayed psychomotor development,

intellectual disability Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental ...

(seen with cerebral developmental anomalies and microphthalmia),

speech disorder Speech disorders, impairments, or impediments, are a type of communication disorder in which normal speech is disrupted. This can mean fluency disorders like stuttering and cluttering. Someone who is unable to speak due to a speech disorder is c ...

s and

autistic Autism, also known as autism spectrum disorder (ASD), is a neurodevelopmental disorder characterized by differences or difficulties in social communication and interaction, a preference for predictability and routine, sensory processing di ...

behaviors

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 ...

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 8,500 births.

Eponym

The condition was documented in 1952 by Belgian–American ophthalmologist Maurice Goldenhar (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