Goldenhar syndrome, also known as Oculo-Auriculo-Vertebral syndrome or facio-auriculo-vertebral dysplasia, is a rare developmental syndrome, characterized by facial asymmetry and abnormalities of the ears, eyes and vertebra.
As the cause of disease is at the early embryological level, it presents as a mixture of various defects affecting different organs of the body. Conditions like Blepharoptosis, microphthalmia, epibulbar tumors, and retinal anomalies have been reported in Goldenhar syndrome. Visual acuity is generally decreased. The frequency of mental retardation amongst individuals affected with Goldenhar syndrome varies from 5-15% in documented cases. Children affected with anopthalmia or microphthalmia and cleft lip or cleft palate are seen to be at an increased risk of cerebral malformations and mental retardation.
Studies were done to analyze the frequency and anatomic features of congenital heart defects in a series of 87 patients with OVAS . Off these 87 patients, 28 patients had various Congenital Heart Diseases like atrial and ventricular septal defects, conotruncal defects, targeted growth defects, situs and looping defects, patent ductus arteriosus, tetralogy of Fallot (classic or with pulmonary atresia) and left sided obstructive lesion.
In these patients, the mandibular ramus and condyles are hypoplastic; the maxilla, malar, and temporal bones are smaller on one side; and the mastoid is poorly pneumatized. Around one third of the cases show bilateral involvement and approximately 60% cases show right side involvement.
Macrostomia or pseudomacrostomia i.e. lateral cleft-like extension of the corner of the mouth is usually seen. The parotid gland is also affected leading to either agenesis or displaced salivary tissue. Nearly 10% of the patients are affected with cleft palate and/or cleft lip. Lag in dental development occurs on the hypoplastic side along with lingual and palatal malformations. Microtia or occasional anotia are present, and preauricular tags occur between the tragus and the corner of the mouth. The middle ear shows ossicular anomalies and an abnormal course of the facial nerve.
Hearing loss is more commonly conductive than sensorineural. Cervical vertebrae are affected in 30% of cases, and hemi-vertebrae and fused vertebrae are also seen . Tracheal and pulmonary anomalies and tracheoesophageal fistula are also seen in the Goldenhar syndrome on rare occasions.
Entire Body System
- Renal Artery Stenosis
This is a report of the successful angioplastic treatment of an association of renovascular hypertension with renal artery stenosis and the Goldenhar syndrome (a variant of oculoauriculovertebral dysplasia). [ncbi.nlm.nih.gov]
A 7-year-old Japanese girl and 12-year-old Turkish boy with Goldenhar syndrome were examined clinically and radiographically; both had symptoms of hemifacial microsomia. [ncbi.nlm.nih.gov]
Jaw & Teeth
Fig. 8: Convergent strabismus, matted eye lashes, macrostomia, and pyoderma. [healio.com]
[…] eyelid, exophthalmia, strabismus), auricular symptoms (dacryocystitis), preauricular appendages, preauricular fistulas, ear asymmetry, microtia, atresia of the external auditory canal), craniofacial deformities (cleft face, cleft lip, cleft palate, macrostomia [ncbi.nlm.nih.gov]
Differential Diagnoses: Treacher Collins syndrome: Autosomal dominant congenital disorder characterized by craniofacial deformities, such as downward-slanting eyes, micrognathia, macrostomia, and microtia. [ajnr.org]
Macrostomia (large mouth opening). Epibulbar dermoid (white thickening in the eye). Eyelid coloboma (cleft in the upper eyelid). Pre-auricular tags. Ear malformation. Orofacial/odontological symptoms Skeletal asymmetry and a small lower jaw. [mun-h-center.se]
On clinical examination baby had absent left pinna which was replaced by periauricular skin tags and appendages, atresia of the left external auditory canal, epibulbar dermoid, macrostomia on the left side with hypoplastic mandible. [indianpediatrics.net]
The patient had large epibulbar lipodermoids requiring surgical debulking primarily for mechanical lagophthalmos and secondarily for cosmesis. Further multidisciplinary effort is required to manage her systemic manifestations of the syndrome. [ncbi.nlm.nih.gov]
Eyelid colobomas can be in the upper or lower eyelid, but most commonly in the upper eyelid, resulting in significant lagophthalmos or ocular surface exposure. [eyewiki.aao.org]
- Antimongoloid Slant
[Fig. 1] Facial features: Hypoplasia of the right malar region, macrostomia, tongue tie, high arched palate, depressed frontal region above the right medial canthus, hypertelorism, antimongoloid slant of eyes, depressed bridge of the nose and anteverted [jpgmonline.com]
A 4-year-old male diagnosed with Goldenhar syndrome, with an unremarkable ophthalmic history, develops a neurotrophic ulcer secondary to trigeminal nerve aplasia. It was treated with multilaminar amniotic membrane transplantation. [ncbi.nlm.nih.gov]
The dermoid with lashes may cause constant rubbing of eye leading to symptoms of irritation, watering, discharge, secondary infections and corneal epithelial defects and ulcerations. [eyewiki.aao.org]
The left eye had a perforated corneal ulcer and uveal and vitreous prolapse due to exposure. There was no microcornea, micro-ophtalmia, ptosis, coloboma of the iris or choroid or a cataract. There were no skull, spinal, rib or limb anomalies. [jpgmonline.com]
Amniotic membrane transplantation in refractory neurotrophic corneal ulcers: a randomized, controlled clinical trial. Cornea 2005;24:654–660. PubMed CrossRef Google Scholar 84. Al Kaissi A, Ben Chehida F, Ganger R, Klaushofer K, Grill F. [link.springer.com]
The propositus, a male born from nonconsanguinous parents, had facial asymmetry with right microtia and mandibular hypoplasia; he also had bilateral hypoplastic macula, scoliotic deformity of the thoracic spine, and ventricular septal defect. [ncbi.nlm.nih.gov]
[…] of the mandible and maxilla, malocclusion, tooth discrepancies, agenesis of third molars and second premolars, supernumerary teeth, enamel and dentin malformations, delay in tooth development), and skeletal abnormalities (cleft spine, microcephaly, dolichocephaly [ncbi.nlm.nih.gov]
Skeletal alterations: Defects of the skull such as cranium bifidum, microcephaly, dolichocephaly, and plagiocephaly have been noted. Spina bifida, hemivertebrae, butterfly, fused, and hypoplastic vertebrae like vertebral anomalies have been seen. [eyewiki.aao.org]
Hypoplasia of the zygomatic area may also be seen. ,  Skeletal alterations: Defects of the skull such as cranium bifidum, microcephaly, dolichocephaly, and plagiocephaly have been noted. [cjhr.org]
- Small Hand
Here, we describe a case of Goldenhar syndrome in a 1-day-old female newborn, who presented with right external ear atresia, left preauricular appendices, cleft-like extension of the right oral angle, mandibular hypoplasia and relatively small hands. [ncbi.nlm.nih.gov]
- Limitation of Neck Movement
For anesthesiologists, airway management is of great interest because of facial and oral abnormalities such as mandibular hypoplasia and limitation of neck movement. [ncbi.nlm.nih.gov]
- Hearing Impairment
The degree of hearing impairment was thoroughly described in all patients and individual treatment was introduced. [ncbi.nlm.nih.gov]
Hearing impairment and squinting are common. Orofacial/odontological symptoms Skeletal asymmetry and a small lower jaw. Facial palsy may occur. [mun-h-center.se]
Hearing loss - a hearing evaluation is recommended in all children with Goldenhar disease by 6 months of age. In those with hearing impairment, hearing aids or other treatments may be recommended. [rarediseases.info.nih.gov]
The diagnosis of Goldenhar syndrome is mainly made on the basis of external signs.
An MRI examination of the brain should be carried out to investigate whether there is damage to the central nervous system. If abnormalities of the internal organs are suspected, examinations of the lungs, urinary tract and gastrointestinal canal should be performed. Eye examination in early stages is important as well.
Hearing should also be tested. Abnormalities of the middle and inner ear are identified using a CAT (computed tomography) scan of the temporal bone .
Abnormalities of the cervical spine, hands and arms require X-ray examinations.
Here we report a case of Goldenhar syndrome with an unusual association of a fibroepithelial polyp attached to a limbal dermoid. [ncbi.nlm.nih.gov]
Additionally there was evidence that peri-auricular polyps were surgically removed when the patient was eight months old ( Figure 3 ). No mental problem was detected during examination. [scielo.br]
All children with craniofacial malformations are treated by a specialist craniofacial team, which assesses which operations are appropriate. Operations on the face and jaws, and on the external part of the ears, may be necessary. Procedures are carried out to improve function and appearance and they require planning and coordination between medical specialists. A plastic surgeon, oral and maxillofacial surgeon, dentofacial orthopedist, anaesthetist, ophthalmologist and ear specialist may all be involved for a good outcome.
Cleft palate should be treated by operating the soft palate in the first year after birth. Goldenhar syndrome affected individuals require oral and maxillofacial surgery and extensive orthodontic treatment. The objective is generally to create a symmetrical jaw and to improve the bite.
If the surface of the eye has major abnormalities and more importantly if the cornea is affected, impaired vision and refractive errors will often manifest and the child may require both spectacles and vision therapy.
Children with impaired hearing in only one ear develop speech quite well but if both ears are affected, auditory aids are required.
Children with intellectual disability need early rehabilitation to stimulate their development and help compensate for various dysfunctions.
Abnormalities of the cervical spine, hands and arms should, if necessary, be treated by an orthopaedic surgeon.
The majority of children born with Goldenhar syndrome have a normal life expectancy. With surgery and counseling, symptoms of Goldenhar syndrome can be managed. In less severe cases, this birth defect does not affect child’s intellectual development.
A new classification system has been proposed based on a study of 53 children to aid prognosis .
Goldenhar syndrome is a congenital disorder having autosomal dominant transmission. It is seen that animal models have vascular disruption and hematoma formation which affects the developing structures of the jaw and the ear regions in utero. Another theory suggests that the disturbance of the population of the neural crest cells occurs at 30-45 days of gestation which leads to this type of dysplasia. It is also suggested that there is brachial arch development issue late in first trimester. Several chromosomal abnormalities have been associated with the Goldenhar syndrome, including partial loss of chromosomes 5, 6, 8 or 18, or the addition of extra chromosomal material, such as trisomy 22.
An increase in the prevalence of children born with Goldenhar Syndrome was found post Gulf war but was found to be statistically insignificant at the end .
The exact cause of this syndrome is not known but various studies suggest alterations during embryological development. One hypothesis suggests vascular disruption and hematoma formation, thereby affecting the development of jaw and ear structures. A different theory suggests disruption is the neural crest cells during 30-45th days of gestation.
These neural crest cells under normal conditions later differentiate into the cranial neural crest, trunk neural crest, vagal and sacral neural crest, and cardiac neural crest. The cranial neural crest cells contribute to the formation of thymus, bones of middle ear, the jaw and the odontoblasts of the tooth primordia. The trunk neural crest cells form dorsal root ganglia, sympathetic ganglia, adrenal medulla and nerves surrounding the aorta. The vagal and sacral neural crest develops into ganglia of the enteric nervous system and the parasympathetic ganglia. Cardiac neural crest develops into melanocytes, cartilage, connective tissue and neurons of some pharyngeal arches. It also forms different regions of the heart such as the musculo-connective tissue of the large arteries, and a part of the septum, which divides pulmonary circulation from the aorta.
According to a recent study, the semilunar valves of the heart are also associated with neural crest cells. Therefore, any disruption in neural crest cells leads to widespread anomalies in the offspring. The hypothesis that mentions a defect in brachial arch development also results in similar widespread anomalies as the brachial arch later contributes in formation of neck, face, larynx, pharynx, mouth, bones, cartilages, cranial nerves, muscles ligaments etc.
There are no guidelines for the prevention of Goldenhar syndrome.
Goldenhar syndrome, also known as Oculo-Auriculo-Vertebral (OVA) syndrome, is a rare congenital defect characterized by incomplete development of ear, nose, soft palate, lip and mandible.
The condition was documented in 1952 by Maurice Goldenhar. The term oculoauriculovertebral dysplasia was coined by Gorlin, Cohen and Levine due to it’s spectrum of anomalies ranging from head, face mouth, that denote unilateral microtia, mandibular hypoplasia and microstomia, to Goldenhar syndrome, which also includes epibulbar dermoids and vertebral anomalies.
Goldenhar syndrome is a congenital disorder that manifests in the form of widespread anomalies affecting multiple organ systems and special senses. The person affected present with structural anomalies of face, jaw, eyes, heart, ears, lips, jaw, mandible, spine, hands, arms, brain, and sometimes lungs, gastrointestinal tract and urinary system. Patients commonly have to undergo various extensive, cosmetic surgeries to correct these anomalies so that they can lead a near normal life. These surgeries have to be conducted at different stages in life, depending on their effects on the individual.
Most of the anomalies can be corrected by surgery but many of them like hearing disability, visual disability, intellectual disability etc. require extra care and rehabilitative training. Children with an intellectual disability need early rehabilitation to stimulate mental development and take care of various dysfunctions. Rehabilitation includes assessment, treatment, assistance with choice of aids, information about disabilities and counseling.
Most children with impaired hearing in one or both ears can be helped by auditory aids. It is important for the child’s development that this start at an early stage.
Information should be provided to the school before the child starts attending the school, so that he or she can receive the necessary supervsion. Attitudes vary greatly among people with the syndrome, while their appearance may affect their relations with those around them. The teenage years in particular can be a difficult period for young people with the Goldenhar syndrome. When the young person becomes an adult and most operations have been completed, life often becomes easier.
Prior to operations on the face, a young person should meet a psychologist to ensure that expectations regarding the result of the procedures are realistic. Facial procedures often produce good results, but they usually take place over a long period and in stages. Parents of such children are also given psychological counseling as to how to manage and get along with their child.
- Araneta MR, Moore CA, Olney RS et al. Goldenhar syndrome among infants born in military hospitals to Gulf War veterans. Teratology 1997, 56 (4): 244–251.
- Digilio MC, Calzolari F, Capolino R, et al. Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet A. Jul 15 2008;146 A(14):1815-9.
- Al Kassi A, Ben Chehida F, et al. Distinctive spine abnormalities in patients with Goldenhar syndrome: tomographic assessment. Eur Spine J. 2014 Feb 7.
- Hennersdorf F, Friese N, et al. Temporal Bone Changes in Patients With Goldenhar Syndrome With Special Emphasis on Inner Ear Abnormalities. Otol Neurotol. 2014 Mar 28.
- Tasse C, Böhringer S, Fischer S, et al. Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet. 2005 Oct-Dec;48(4):397-411.