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 [2]. 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.

Renal ectopia and hydronephrosis are less commonly seen. Rarely, talipes equinovarus deformities or other limb anomalies are seen.

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 [3]. Tracheal and pulmonary anomalies and tracheoesophageal fistula are also seen in the Goldenhar syndrome on rare occasions.

• Dysostosis

  […] rare genetic condition, often referred to as “postaxial acrofacial dysostosis” must also be ruled out. [jomfp.in]

  Facio-auriculo-vertebral spectrum (disorder) First AND second branchial arch syndrome First arch syndrome (disorder) HEMIFACIAL MICROSOMIA OAV (oculoauriculovertebral) dysplasia Otomandibular dysostosis (disorder) First arch syndrome Facio-auriculo-vertebral [wikidata.org]

  Aplasia and displacement of the horizontal portion of the petrous carotid artery have been described in a patient with mandibulofacial dysostosis. [ncbi.nlm.nih.gov]

  (Gorlin Syndrome), Skin of Face Bloch-Sulzberger Syndrome (Incontinentia Pigmenti) Cockayne Syndrome (Orthochromatic Leukodystrophy) Familial Arrhiny with Peter's Anomaly Hypertelorism Mandibulo-Facial Dysplasia Goldenhar Syndrome, (Oculo-auricular Dysostosis [atlasophthalmology.com]

• Multiple Congenital Anomalies

  Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q). Am J Med Genet. 1988 ; 29: 909 – 915. [doi.org]

  CHARGE association is a disorder characterized by multiple congenital anomalies. An association is defined as a nonrandom occurrence, in two or more persons, of multiple anomalies not yet known to be a syndrome or a sequence. [ajnr.org]

  Goldenhar's syndrome associated with multiple congenital anomalies. J Trop Paediatr 2005;51:377-9. 8. Taksande A, Vilhekar KY, Jain M. Atypical presentation of Goldenhar syndrome. J MGIMS 2006;11:45-52. 9. Trivedi HL, Murade S, Harne S, Aarbhave V. [jisppd.com]

  P atients with GS can have multiple congenital anomalies, and they need particular attention to internal abnormalities. [scielo.br]

• Short Stature

  The patient was a 20-year-old man with short stature, facial dysmorphism including asymmetry, scoliosis, severe psychomotor delay and an epibulbar dermoid cyst. [ncbi.nlm.nih.gov]

  Seckel syndrome: Has extreme microcephaly, short stature, and beak nose. Bilateral involvement is usual. Treatment: Reconstructive surgery is usually necessary in these patients. [ajnr.org]

  The child had short stature, frontal bossing, left facial paralysis (lower motor neuron lesion), short neck, bilateral microtia associated with meatal stenosis of the right ear and accessory auricle in the left preauricular region. [bioline.org.br]

  In addition our patient also presented with additional clinical features consisting of an orofacial cleft, dermoids, brain anomaly, delay of motor and speech development and short stature, attaining a score of 10/18, which reflects the severity of the [parjournal.net]

  Short description: Congen malform syndromes predom affecting facial appearance The 2019 edition of ICD-10-CM Q87.0 became effective on October 1, 2018. [icd10data.com]

• Surgical Procedure

  The therapeutical strategy is directly related to the type of affection, uni or bilateral, thus being able to use surgical procedures or other specific methods(12). [arquivosdeorl.org.br]

  surgical procedures (costochondral rib graft and classical osteotomy) and the distraction technique. [18] Reconstruction of the external ear may be performed at six to eight years of age and structural anomalies of the eye and ears can be corrected with [ejgd.org]

  At the age 8, he underwent a minor surgical procedure for excision of preauricular tags on the left side of his face. Physical examination at the age of 21 years was remarkable for developmental and mental disability with a slow gait. [parjournal.net]

• Dentist

  Spec Care Dentist. 2007;27:105–107. - PubMed Vinay C, Reddy RS, Uloopi KS, et al. Craniofacial features in Goldenhar syndrome. J Indian Soc Pedod Prev Dent. 2009;27:121–124. - PubMed Bielicka B. [pubmed.ncbi.nlm.nih.gov]

• Pharyngitis

  It is not well understood why certain disruptions to development affect the first and second pharyngeal arches in particular. [ghr.nlm.nih.gov]

  Features of Goldenhar syndrome include several craniofacial anomalies of structures derived from the first and second pharyngeal arches, as well as vertebral, cardiac and renal systems abnormalities. [ncbi.nlm.nih.gov]

  Titre traduit Identification of genes involved in Goldenhar Syndrome or Oculo-Auriculo-Vertebral Spectrum (OAVS) Résumé Goldenhar syndrome or Oculo-Auriculo-Vertebral Spectrum (OAVS) is a rare developmental disorder involving the first and the second pharyngeal [theses.fr]

  1, 131 - 135, 13.03.2019 Vidya HOLLA Raghavendra KİNİ Prassana KUMAR RAO Roopashri KASHYAP Devika SHETTY Kamakshi JHA Abstract Goldenhar Syndrome also called as facio-auriculo-vertebral dysplasia, is a rare syndrome developing from first and second pharyngeal [cdj.cumhuriyet.edu.tr]

• Hypertension

  Additionally, increased arterial distensibility in spite of arterial hypertension was detected by noninvasive methods. [ncbi.nlm.nih.gov]

  Hypertensive Retinopathy Iris and Ciliary Body Lacrimal System Lens Lids Neuro-Ophthalmology Optic Nerve Orbit Retina Sclera Strabismus, Ocular Motility Disorders Systemic Diseases Vitreous Z Videos Z-iPodcasts Z_Op-Videos Endorsed by iPod Podcasting [atlasophthalmology.com]

  Perioperative complications in children with pulmonary hypertension undergoing noncardiac surgery or cardiac catheterization. Anesth Analg 2007;104:521-7. [annals.in]

  […] bleeding in the second trimester Malnutrition Exposure to tobacco during pregnancy Chromosomal aberrations such as 3del(5p), del(6q), del(8q)(161), del(18q), del(22q), recombinant chromosome 18, ring 21 chromosome, and dup(22q) Maternal and fetal hypoxia Hypertension [eyewiki.aao.org]

  […] pregnancy, chromosomal aberrations such as 3del(5p), del(6q), del(8q)(161), del(18q), del(22q), recombinant chromosome 18, ring 21 chromosome, and dup(22q) have been cited as the other causes of Goldenhar syndrome.[1],[4],[5] Maternal and fetal hypoxia, hypertension [cjhr.org]

• Macrostomia

  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]

  Macrostomia is often present. Abnormal development of the ears is another characteristic of Goldenhar syndrome. The ears may be smaller than normal {microtia}, or absent {anotia}. [pediatriconcall.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]

  Bilateral asymmetry of face and macrostomia was present and inter-incisal distance was 43 mm. [jomfp.in]

• Dental Caries

  Children with Goldenhar syndrome may have limited oral opening and/or a malocclusion, oral hygiene is more difficult, putting them at increased risk of both dental caries and gingivitis. [17] Tooth brushes with smaller heads and water-jet systems to improve [ejgd.org]

• Hypertensive Retinopathy

  Hypertensive Retinopathy Iris and Ciliary Body Lacrimal System Lens Lids Neuro-Ophthalmology Optic Nerve Orbit Retina Sclera Strabismus, Ocular Motility Disorders Systemic Diseases Vitreous Z Videos Z-iPodcasts Z_Op-Videos Endorsed by iPod Podcasting [atlasophthalmology.com]

• 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]

  A study was taken up to understand the prevalence of this syndrome in children below the age of 14 years with hearing loss. Out of 1073 children with hearing impairment, Goldenhar syndrome was observed only in 1 (0.09%) case. [bioline.org.br]

• Hypertelorism

  A 10-year-old male was first referred to our ophthalmology clinic on 2009-2-11 for ocular hypertelorism and microphthalmia when he had chin-up position. [ncbi.nlm.nih.gov]

  Acrocephalodactyly Arthrogryposis Syndrome Bardet-Biedl Syndrome Basal-Cell Nevus Syndrome (Gorlin Syndrome), Skin of Face Bloch-Sulzberger Syndrome (Incontinentia Pigmenti) Cockayne Syndrome (Orthochromatic Leukodystrophy) Familial Arrhiny with Peter's Anomaly Hypertelorism [atlasophthalmology.com]

  [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]

  The presence of hypertelorism may indicate aneuploidy. A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. [icd10data.com]

• Distractibility

  Mandibular distraction osteogenesis has been applied for many years, but long-term reports present controversial results. [ncbi.nlm.nih.gov]

  We also anticipated a future bilateral (both sides) distraction post grafting as part of Anthony’s treatment plan.” Anthony’s Jaw Distraction Surgery The unilateral mandibular distraction on Anthony’s left side required Dr. [mountsinai.org]

  Second, newly formed bone can be distracted more than once, enabling additional distractions as the patient grows. [scielo.isciii.es]

• Confusion

  Other epibulbar choristomas that can be confused with lipodermoids are described. [ncbi.nlm.nih.gov]

The diagnosis of Goldenhar syndrome is mainly made on the basis of external signs.

An ultrasound examination of the heart should be carried out at an early stage to establish whether the child has a heart defect. Most heart defects require surgical intervention.

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 [4].

Abnormalities of the cervical spine, hands and arms require X-ray examinations.

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 [5].

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 [1].

Goldenhar syndrome occurs sporadically in most of the cases. 1-2% of the reported cases occur within a family, suggesting autosomal dominant transmission. The frequency of the condition ranges from 1 case per 3500 births and 1 case per 25,000 births.

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.

1. 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.
2. 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.
3. Al Kassi A, Ben Chehida F, et al. Distinctive spine abnormalities in patients with Goldenhar syndrome: tomographic assessment. Eur Spine J. 2014 Feb 7.
4. 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.
5. 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.