Goldenhar syndrome(GS) portrays numerous abnormalities of the skeletal system, heart, eyes, and Central nervous system. It is also known as Oculo-Auriculo-vertebral dysplasia, Second branchial arch syndrome, or Oculo-auriculo-vertebral spectrum. This anomaly is an uncommon congenital malformation associated with the first and second branchial arches. In 1952, an Ophthalmologist, Maurice Goldenhar first identified this anomaly, and therefore it is named after him.
This rare disease usually affects one side of the face, but it can also occur bilaterally.
The incidence of GS ranges from 1:3500 to 1:7000 live births, with a 3:2 male-to-female ratio.
Causes of Goldenhar Syndrome
- There might be genetic mutations involving autosomal dominant traits. Prevalence ranges from 1:3500 to 1:7000 live births. An empiric recurrence of 2% to 3% is observed
- A possible developmental deformity in the blood supply to the fetus in-utero to first and second branchial arches
- Drug consumption during pregnancy, like Retinoic acid, Thalidomide, Cocaine, Anti-coagulants, etc causes blood clotting in jaws and auricular regions, leading to multiple tissue dysplasia
- Multiple pregnancies
- Gestational diabetes
- Tobacco usage during the gestation
Signs and symptoms of Goldenhar Syndrome
In the majority of patients, the Classic trio of Symptoms comprises-
- Epibulbar dermoid (Non-cancerous tumours or cysts upon the eyeballs)- Yellowish or pinkish-white clusters that might be one-sided or bilateral, also causing problems in proper vision
- Hemifacial microsomia (malformation of cheek and jaw bones)- Prominent facial asymmetry on one or both sides due to impaired development of the ear, face, jaws, and skeleton
- Ear abnormalities including unusual pre-auricular growths- Unusually sized ears due to indistinct mass of tissue growth superficially present on the malformed ear, with tags of skin and cartilage
Other features may also be found in this disorder, based on literature-research constitutes:
- Craniofacial abnormalities like Cleft -lip, and Cleft-palate, cause difficulty feeding and later speech or communication problems with increasing age
- Hearing loss with complex or partial deafness
- Missing or fused ribs
- Spinal abnormalities
- Multiple organ damage like kidney, lungs, and heart
- Abnormal growth of spines or curved spine (hypoplasia of cervical lumbar or thoracic vertebrae) resulting in difficulty in lung functions, causing Thoracic insufficiency syndrome
- Obstructive sleep apnea
- Malocclusion, supernumerary teeth, and other tooth discrepancies
Management and treatment of Goldenhar Syndrome
Based on the severity of the symptoms and difficulty of the patient, a multidisciplinary treatment approach is planned, according to the varying symptoms and needs of the individual child. If the manifestations are not complicated, the treatment can be done accordingly.
A panel of medical specialists works in alliance to deal with the various abnormalities, are Pediatricians, Craniofacial and reconstructive surgeons, Ear and nose(Otolaryngologist or ENT surgeon), Eye (Ophthalmologists), Heart (Cardiologist), Lungs(Pulmonary), Kidney (Nephrologist), Hearing loss (Audiologists or Otologists), Speech pathologists, Spine(Orthopaedic), Orthodontic or dental care(Orthodontist or Oral maxillofacial surgeon), Psychologists, Cosmetic surgeons, and Other care professionals.
- Feeding support with specialized bottles or nasogastric (NG) feedings is done. Considering Obstructive sleep apnea and other breathing issues, Neonates with airway disturbance may need special positioning like proning (Alternate side sleeping every night). Supplemental oxygen, continuous airway pressure, intubation, or tracheostomy can be performed as per the child’s severity. Some Tracheostomy treated patients may survive for some years, awaiting lower jaw growth or mandibular surgery
- A facial reconstruction or jaw surgery is applicable in cases of airway blockage. Non-surgical interventions can also be taken such as bracing and physical therapy
In mandibular hypoplasia, reconstruction surgery with rib grafts is chosen and for the less developed maxilla lengthening, bone distraction device and osteogenesis are utilized. Cleft lip and Cleft palate patients have to undergo surgical correction that would be followed by advanced Orthodontic treatment depending on the growth of the jaws.
- For the anatomical defects in the eye and ear, reconstructive surgery is required. By the age of 6-8 years, reconstruction surgery of the external ear is proposed, or in the early teenage
For hearing impairment, Bone anchored auditory implants(BAHA) or hearing aids are suggested that offer better hearing experience and as per communication requirements.
- In ocular deformities, Surgical excision of Epidermal dermoids in addition to Stem cell grafting, can be done to halter the regrowth of eye dermoids. Eyeglasses or specks for the improvisation of vision are proposed
- Speech therapy for the betterment of correspondence and contact can also be beneficial
- Mandatory dental treatment and other cosmetic procedures as per the seriousness and necessity of the respective case
- Surgical intervention for defects in the heart, kidney, lungs, and spine based on the seriousness of the disorder
- Psychological care may also be applied for the well-being of the child and everyday life
There is no confirmed criterion for Goldenhar syndrome but a thorough medical history, Physical examination, and various investigations can be conducted for diagnosing the disorder. These investigations are:
- Magnetic resonance Imaging(MRI)- For analysis of internal organs and structures inside the body.
- Computed Tomography (CT) Scan- For the cross-sectional view of the body
- EOS Imaging- A three-dimensional image of the two-dimensional images for making a clear and concise diagnosis. It is taken when the child is in an upright or standing posture because of weight-bearing positioning, and that can help to provide more detailed information
- Ultrasound- This image can show the presence of any deformity in the organs of the developing baby during pregnancy
- Genetic Testing- For testing the presence of any genetic disorder triggers
- Hearing test to rule out any hearing loss
- Echocardiogram(Echo test) or Electrocardiogram(EKG)- For evaluating the condition of the heart
- Eye tests and sleep studies- For any eye imperfection and Detecting Obstructive sleep apnea
So, For accreditation of GS, we will look for the following clinical features:-
- Swallowing and feeding problems in newborns
- Eye abnormalities- Epibulbar dermoids, absence of one of the eyes of the baby or lesser size of the eyes at the time of birth or any asymmetry of the eyes
- Ear deformities- Unusual sizing of the ear, underdeveloped ears, irregular sizing of the ear, presence of pre-auricular skin and tissue tags superficially on ears, partial or complete deafness
- Skeletal defects, mandibular malformations, abnormal neck, abnormal S or C-shaped curved spines, hunchback /slouching posture(abnormal vertebrae)
- Other organ deformations, cardiac, renal, or pulmonary defects
- Mental retardation, Late growth of psychomotor development
- Speech disorders
For differentiating Goldenhar Syndrome from Treacher-Collin syndrome and First and second arch deformities, we can compare the genetic traits and clinical presentation of both disorders.
Treachers Collin syndrome is mostly bilateral and has an antimongoloid slant of the palpebral fissure, coloboma of lower eyelids(missing tissue structures forming the eyes), and absence of eyelashes in lower eyelids. Moreover, Treacher-Collin syndrome shows a remarkable genetic trait.
The vertebral and other malformations will differentiate the Goldenhar type of hemifacial microsomia.
How can I prevent Goldenhar Syndrome?
The exact aetiology or causative factor behind this disorder is not verified. There are just certain literature-based studies and a few researchers-hypothesis determining some possible causes. Therefore, GS could not be prevented. Genetic testing is also a clever option for early diagnosis. So, During pregnancy, all mandatory precautions should be taken and strictly abide by all the directions and specified medications, provided by the Doctor. Avoid drugs like Retinoic acid, Thalidomide, and Cocaine, including the other restricted drugs during pregnancy. Pregnant ladies should live in a healthy environment, avoid stress and anxiety and stick to a wholesome and nutritious diet throughout the pregnancy.
How common is Goldenhar Syndrome
Prevalence ranges from 1:3500 to 1:7000 live births. An empiric recurrence of 2% to 3% is observed.. It is a very rare disease. Males are slightly more affected than females with a 3:2 Male to female ratio.
Who are at risk of Goldenhar Syndrome
Most of the sufferer families did not have any history of this disorder. They show autosomal dominant traits. GS is rare and can be inherited.
When should I see a doctor?
Some scenarios where medical attention is required:
- Vision problems involving eye deformities
- Hearing depletion or complete deafness
- Facial asymmetry with defective size or shape of face and head
- Craniofacial defects and Jaw abnormalities
- Difficulty in feeding the baby
- Cleft lip and palate
- Heart, kidney, or lung abnormalities
- Spinal defects impairing the posture of the baby
Goldenhar syndrome is a rare disorder, distinguished by the vertebra, ocular, craniofacial and auricular defects. Other clinical presentations may comprise cardiac and vascular abnormalities.
It is mostly reported to be genetically inherited, and no confirmed aetiology of the disease is known. It occurs due to faulty development of the first and second branchial arches. Oculo-auriculo-ventral disorder is the mildest form, Hemifacial microsomia is the intermediate form, and Goldenhar syndrome is the most severe form of the Oculo-auriculo-ventral spectrum.
The risk factors cannot be avoided as the aetiology is unknown.
Before pregnancy, genetic testing should be beneficial for early diagnosis of the entity. Pregnant women should try to live a happy and cheerful life. They should avoid X-rays, and unnecessary medications and should keep a healthy lifestyle.
Continuous medical check-ups and regular visits to healthcare professionals should be mandatory.
- What is Goldenhar Syndrome? [Internet]. 2023 [cited 2023 Jul 5]. Available from: https://www.icliniq.com/articles/genetic-disorders/goldenhar-syndrome
- Philadelphia TCH of. Goldenhar syndrome [Internet]. 2014 [cited 2023 Jul 5]. Available from: https://www.chop.edu/conditions-diseases/goldenhar-syndrome
- McElrath A, Winters R. Mandibulofacial dysostosis. StatPearls [Internet]. 2023 Jul 4 [cited 2023 Jul 5]; Available from: https://www.statpearls.com/ArticleLibrary/viewarticle/24727
- Mathog RH, Leonard MS. Surgical correction of Goldenhar S syndrome: The Laryngoscope [Internet]. 1980 Jul [cited 2023 Jul 5];90(7):1137–47. Available from: http://doi.wiley.com/10.1288/00005537-198007000-00009
- Cleveland Clinic [Internet]. [cited 2023 Jul 5]. Goldenhar syndrome: what it is, causes & symptoms. Available from: https://my.clevelandclinic.org/health/diseases/22808-goldenhar-syndrome
- Oculo-auriculo-vertebral spectrum - symptoms, causes, treatment | nord [Internet]. [cited 2023 Jul 5]. Available from: https://rarediseases.org/rare-diseases/oculo-auriculo-vertebral-spectrum/
- Goldenhar’s Syndrome. OAV syndrome information [Internet]. 2015 [cited 2023 Jul 5]. Available from: https://patient.info/doctor/goldenhars-syndrome
- Vagelos College of Physicians and Surgeons [Internet]. 2022 [cited 2023 Jul 5]. Goldenhar syndrome. Available from: https://www.vagelos.columbia.edu/departments-centers/ophthalmology/education/digital-reference-ophthalmology/pediatric-and-strabismus/goldenhar-syndrome