Goldenhar Syndrome

Goldenhar Syndrome is a rare congenital condition characterised by craniofacial, skeletal, and organ anomalies (depending on the person). While primarily the condition is unilateral (affecting one side), bilateral involvement (both sides) is possible but rarer.

First Described By

Goldenhar syndrome was first described by Dr. Maurice Goldenhar, a Belgian-born American ophthalmologist, in the early 1950s. Dr. Goldenhar observed a consistent pattern of congenital anomalies involving the eyes, ears, and spine in several patients, which led to the identification and characterisation of the condition now known as Goldenhar syndrome or ocular-auricula-vertebral spectrum (OAVS). His observations and detailed documentation laid the foundation for understanding this complex condition.

The precise origin of Goldenhar syndrome

The precise origin of Goldenhar syndrome is not fully understood. It is believed to result from a combination of genetic and environmental factors, although specific causes are still under investigation. Some researchers suggest that disruptions in blood flow to the developing embryo during early pregnancy may contribute to the development of the condition.

Diagnosis of Goldenhar syndrome

Diagnosis of Goldenhar syndrome typically begins with a thorough physical examination by a healthcare provider, who will look for characteristic signs of the syndrome. Imaging studies, such as X-rays or MRI scans, are then used to assess the extent of craniofacial and spinal abnormalities. This comprehensive diagnostic approach helps evaluate the condition and plan appropriate management strategies.

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Abnormalities that can arise due to Goldenhar Syndrome

Ear Abnormalities in Goldenhar Syndrome

Goldenhar syndrome often affects the development of the ears, with abnormalities ranging from mild to severe. The most common ear malformation is microtia, in which the external ear (auricle) is underdeveloped.

Microtia presents with varying severity, from a slightly smaller-than-average ear that retains most structures, to a small nub of tissue or complete absence of the external ear. The most extreme form is called Anotia, where the external ear is completely missing. Typically, only one ear is affected (unilateral), but in about 10–33% of cases, both ears (bilateral) may be involved.

Many individuals with Goldenhar syndrome also have aural atresia, a condition where the external ear canal is either closed or absent, preventing sound waves from reaching the eardrum and middle ear. This results in conductive hearing loss, which is the most common type of hearing impairment in Goldenhar syndrome. In less severe cases, the canal may be present but narrow (stenosis), still causing reduced hearing. Additionally, abnormalities of the middle ear bones (ossicles), such as malformations or absence, further contribute to conductive hearing loss.

Another feature often seen is preauricular skin tags or accessory tragus, which are small nodules or outgrowths of skin or cartilage located near the ear. These are typically harmless and can be removed surgically for cosmetic reasons.

While conductive hearing loss is the most common in Goldenhar syndrome, sensorineural hearing loss (involving the inner ear or auditory nerve) can occur in some cases. When both types are present, it is referred to as mixed hearing loss.

Bone conduction hearing aids (such as BAHA or bone-anchored hearing aids) are commonly used, as they transmit sound vibrations directly to the inner ear, bypassing the malformed outer or middle ear. Surgical options may include reconstruction of the outer ear (microtia repair) and, in selected cases, creation of an ear canal (atresia repair). Cochlear implants may be considered for individuals with significant sensorineural hearing loss.

Early detection and intervention are crucial. Hearing tests are recommended shortly after birth to guide treatment planning, which may include hearing aids, speech therapy, or surgery to support optimal communication development.

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Eye Abnormalities in Goldenhar Syndrome

Goldenhar syndrome can affect the eyes in a variety of ways, with changes ranging from mild to severe. One of the more common features is microphthalmia, a condition where one eye is abnormally small. This typically occurs on one side of the face and contributes to the facial asymmetry often seen in people with the condition. In more severe cases, the eye may be so underdeveloped that it leads to significant vision loss or blindness in the affected eye.

Another possible eye abnormality is coloboma, a congenital defect in which part of the eye structure is missing. Colobomas can involve different parts of the eye, such as the iris, retina, choroid, or optic nerve. The impact on vision depends on the size and location of the defect, with effects ranging from mild to severe visual impairment.

Strabismus, or misalignment of the eyes, is also observed in some individuals with Goldenhar syndrome. This condition can interfere with depth perception and the ability of the eyes to work together. Depending on the severity, treatment may include corrective lenses, eye exercises, or surgery to improve alignment.

In some cases, individuals with Goldenhar syndrome may also develop Duane syndrome, a rare eye movement disorder that affects the ability to move the eye outward (abduction) or inward (adduction), or both. This condition results from abnormal development of the sixth cranial nerve, which controls one of the muscles that moves the eye. Duane syndrome can cause the eye to retract slightly into the socket and the eyelid to narrow when attempting certain eye movements. It may be associated with limited vision in the affected eye and can contribute to head-turning or other compensatory behaviours to maintain proper visual alignment. Treatment may involve observation, glasses, or surgery depending on the severity and impact on daily function.

Another distinctive feature is the presence of epibulbar dermoids, which are benign growths made up of skin-like tissue. These growths usually appear on the surface of the eye near the cornea and can cause irritation or limit eye movement. If the dermoid is large enough to affect vision or cause discomfort, surgical removal may be recommended.

Some individuals may also develop ptosis, where the upper eyelid droops over the eye. When ptosis interferes with vision or affects appearance, surgical correction can help restore both function and symmetry.

In addition to these structural differences, people with Goldenhar syndrome may have refractive errors such as nearsightedness, farsightedness, or astigmatism. These issues affect how light is focused in the eye and are usually managed with glasses or contact lenses.

Treatment of eye-related symptoms typically involves a combination of surgical intervention, vision correction, and regular monitoring. For those with more significant visual impairment, visual aids and therapy can support development and help maintain independence.

With early identification and proper treatment, many individuals with Goldenhar syndrome are able to manage these eye conditions successfully and achieve good visual outcomes.

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Craniofacial Abnormalities in Goldenhar Syndrome

Goldenhar syndrome commonly affects craniofacial development, leading to a wide range of facial differences that can vary in severity. These abnormalities typically involve the bones and soft tissues of the face, including the jaw, cheekbones, and skull. Facial asymmetry is one of the most noticeable characteristics.

A key feature of Goldenhar syndrome is hemifacial microsomia, a condition in which one side of the face is underdeveloped. This often results in a smaller or less defined lower jaw (mandible) on one side. In more severe cases, the shortened jaw can cause problems with chewing, speaking, and breathing. Dental issues such as misaligned teeth or delayed tooth development may also occur due to uneven jaw growth.

Maxillary hypoplasia, or underdevelopment of the upper jaw, may also be present. This can influence the position of the nose and eyes and further contribute to facial asymmetry. The cheekbones, or zygomatic bones, may be underdeveloped on the affected side, giving a flatter appearance to the midface.

Another craniofacial feature sometimes seen in Goldenhar syndrome is cleft lip and/or cleft palate. These are openings in the upper lip or roof of the mouth that result from incomplete fusion during early development. They can interfere with feeding, speech, and dental development. Surgical repair is often required to correct the defect and improve function and appearance. In some cases, individuals may also have Tessier 7 facial clefts, which appear at the corners of the mouth and can extend towards the ears. These rare clefts can affect facial muscles and symmetry and may also require surgery to improve function

Abnormal development of the skull base and cranial bones may also be present. This can affect the overall shape and balance of the head and face. In some individuals, craniosynostosis has been reported. This condition involves the premature closure of one or more sutures in the skull, which can lead to an abnormal head shape and, in some cases, increased pressure inside the skull. While craniosynostosis is not a core feature of Goldenhar syndrome, it may occur in more complex or overlapping cases. Early detection and surgical treatment are important to reduce the risk of complications.

Goldenhar syndrome can also affect the soft tissues, including the muscles and nerves of the face. Facial nerve palsy may occur on the same side as the skeletal abnormalities. This can lead to weakness or paralysis of facial muscles, impacting expressions and the ability to fully close the eye or mouth.

In more severe cases, structures in the tongue, throat, and airway may be affected. These issues can cause difficulty with swallowing or breathing. Some individuals may require medical support, such as feeding tubes or a tracheostomy, to maintain proper nutrition and airway function.

Management of craniofacial abnormalities in Goldenhar syndrome involves a multidisciplinary team of specialists. This may include craniofacial surgeons, orthodontists, speech and language therapists, dentists, audiologists, and ENT specialists. Surgical procedures are often performed in stages as the child grows to improve jaw alignment, correct cleft palate or lip, and restore facial symmetry. Orthodontic treatment is frequently needed to manage dental misalignment. Speech therapy may help address speech difficulties caused by clefts or jaw differences.

With coordinated care and early intervention, many individuals with Goldenhar syndrome can achieve improved function, appearance, and quality of life.

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Organ Abnormalities in Goldenhar Syndrome

Although Goldenhar syndrome is primarily known for affecting the face and spine, it can also involve various internal organs. These abnormalities can affect the heart, lungs, digestive system, kidneys, and urogenital structures. The extent of organ involvement varies between individuals, and while some cases are mild, others may require specialised medical care.

Heart abnormalities are among the more common internal issues seen in Goldenhar syndrome. Structural defects such as ventricular septal defects (VSD) and atrial septal defects (ASD) have been reported. These involve openings in the walls that separate the chambers of the heart, which can lead to abnormal circulation of blood and strain on the heart. Some defects may resolve on their own, while others require surgical correction to restore normal heart function.

Respiratory issues can arise due to skeletal abnormalities, particularly those affecting the spine and ribcage. Malformations such as hemivertebrae or fused ribs may reduce chest space and limit lung expansion, which can cause reduced lung capacity and difficulty breathing. In more severe cases, individuals may need respiratory support, including tracheostomy or mechanical ventilation, especially during early development.

Gastrointestinal abnormalities are less common but have been observed in some individuals. These may include conditions such as oesophageal atresia, tracheoesophageal fistula, or other malformations of the digestive tract. Feeding difficulties can result from these issues, and in some cases, a gastrostomy tube may be needed to provide adequate nutrition

Kidney and urinary tract abnormalities are present in a significant number of individuals with Goldenhar syndrome. These may include unilateral renal agenesis, in which one kidney is absent, or dysplastic kidneys, where the kidney develops abnormally. Other conditions such as horseshoe kidney or hydronephrosis have also been reported. Regular monitoring of kidney function is important, especially if only one kidney is present or if structural issues are found.

Urogenital anomalies may also occur, although they are less frequently reported. In males, these can include undescended testes or abnormalities in the structure of the penis or urethra. In females, uterine or vaginal malformations may be present. These conditions may affect fertility or physical development and often require evaluation by a specialist.

Treatment and monitoring of organ abnormalities in Goldenhar syndrome typically involve a multidisciplinary team. This may include cardiologists, pulmonologists, gastroenterologists, nephrologists, urologists, and other healthcare professionals. Early detection through imaging and routine check-ups is essential to address any issues as they arise. Interventions such as surgery, medication, or supportive therapies can help manage these conditions and improve long-term outcomes.

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Neurological Defects and Life Span in Goldenhar Syndrome

Although Goldenhar syndrome is primarily known for affecting craniofacial structures, the spine, and internal organs, neurological issues can also occur in some individuals. These neurological features are not present in every case but may appear in more complex forms of the condition.

Neurological involvement may include structural abnormalities of the brain or spinal cord. These can include conditions such as tethered spinal cord, syringomyelia, or other neural tube defects. In rare cases, individuals may experience seizures or abnormal muscle tone. These issues can affect mobility, coordination, or developmental progress and may require the involvement of neurologists, physical therapists, or occupational therapists.

Cognitive development in individuals with Goldenhar syndrome is often within the normal range. However, some individuals may experience learning difficulties or developmental delays. These challenges are more likely when brain anomalies or other complex medical issues are present. Support through educational interventions, learning assessments, and tailored strategies can help individuals reach their full potential.

Behavioural and neurodevelopmental conditions such as Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD) have been reported in some individuals with Goldenhar syndrome. These conditions are not considered typical features of the syndrome but may occur alongside it. When present, they require additional support such as behavioural therapy, speech and language support, and educational planning. Diagnosis of these conditions should be made by qualified professionals and managed as separate but potentially related concerns.

Neuromuscular issues can also arise, especially in individuals with facial nerve involvement or spinal abnormalities. These may affect facial movement, posture, or muscle coordination. Physical therapy and motor development programs may help improve strength, balance, and mobility.

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Lifespan and Prognosis

The life expectancy of individuals with Goldenhar syndrome is generally normal, especially when the condition is mild and internal organ function is not severely affected. Many individuals go on to live healthy and productive lives with appropriate medical care.

In more severe cases involving complex heart defects, respiratory problems, or significant neurological complications, prognosis depends on early diagnosis and comprehensive management. Advances in surgical care, therapy, and multidisciplinary treatment have significantly improved outcomes for individuals with complex forms of the syndrome.

Ongoing care often includes regular follow-up with specialists such as neurologists, developmental paediatricians, speech and language therapists, and mental health professionals. Early intervention and consistent support can greatly improve quality of life and help individuals manage any physical, cognitive, or behavioural challenges they may experience.

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Is Goldenhar Syndrome Genetic?

Goldenhar syndrome, is not usually inherited and most often occurs sporadically, meaning it develops by chance during early pregnancy and is not passed down from parents. However, in rare cases, Goldenhar syndrome can have a genetic basis. While the majority of cases are not genetic and typically do not appear in other family members, some families have reported multiple individuals with the condition. In these rare inherited cases, the syndrome may follow a genetic pattern such as autosomal dominant, where one copy of a changed gene from an affected parent may cause the condition, or autosomal recessive, where both parents carry a gene change without having symptoms but pass it on together. No single gene has been confirmed as the cause in all cases, and researchers believe a combination of genetic and environmental factors may influence the development of the face and spine. Genetic counselling is recommended for families with more than one affected individual or for parents concerned about the risk of recurrence in future pregnancies.

TCOF1: More commonly linked to Treacher Collins syndrome, but some overlapping features with Goldenhar syndrome have led researchers to investigate its role.

HOXA2: Associated with ear and facial development; mutations may contribute to some craniofacial anomalies seen in Goldenhar syndrome.

SALL1 and SALL4: These genes are involved in embryonic development and have been considered in rare syndromic cases with overlapping features.

EFTUD2: Mutations in this gene are linked to mandibulofacial dysostosis with microcephaly, another condition with facial similarities.

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Medical Specialists for Newborns with Goldenhar Syndrome

A newborn with Goldenhar syndrome should first be seen by a paediatrician, who will monitor the child’s overall health, growth, and development. The paediatrician plays a central role in coordinating care with specialists.

A clinical geneticist is important for confirming the diagnosis, evaluating whether the condition is part of a broader syndrome, and providing genetic counselling to the family regarding recurrence risk and long-term planning.

A craniofacial surgeon or plastic surgeon is typically involved early, especially if the child has facial asymmetry, a small or underdeveloped jaw, or a cleft lip or palate. These surgeons plan corrective surgeries over time to improve function and appearance.

An ENT specialist, also known as an otolaryngologist, is essential for evaluating the structure of the ears and the airway. Children with Goldenhar syndrome often have conditions such as microtia or aural atresia, which can affect hearing and breathing. The ENT may also be involved in surgeries to reconstruct the ear or open the ear canal.

An audiologist performs newborn hearing screening and ongoing hearing tests. If hearing loss is detected, the audiologist will help select and fit appropriate hearing aids or bone conduction devices to support speech and language development.

An ophthalmologist examines the eyes and vision. Children with Goldenhar syndrome may have microphthalmia, coloboma, dermoids, ptosis, or strabismus. These conditions can affect sight and may require surgery or vision correction to preserve eye function.

A speech and language therapist supports early feeding and swallowing, particularly in children with cleft palate or jaw abnormalities. They also help with communication development, especially if hearing loss or neurological issues affect speech.

A paediatric dentist or orthodontist becomes involved as the child grows. They monitor dental alignment and development, especially in cases of jaw asymmetry or cleft palate. Orthodontic treatment or jaw surgery may be needed during later childhood or adolescence.

If a heart murmur or other concerns are noted, a cardiologist will evaluate for congenital heart defects such as ventricular septal defect (VSD) or atrial septal defect (ASD). These defects may require monitoring or surgical repair depending on their size and impact.

A pulmonologist may be needed if the child has breathing difficulties related to underdeveloped ribs or spinal curvature, which can limit lung capacity. In some cases, children require breathing support such as oxygen or a tracheostomy.

A gastroenterologist becomes involved when feeding problems, gastroesophageal reflux, or digestive tract abnormalities are present. If nutrition is a concern, the gastroenterologist may recommend a feeding tube, such as a gastrostomy.

A nephrologist is responsible for monitoring kidney development and function. Some children may be born with one kidney, dysplastic kidneys, or urinary problems that require long-term follow-up and care to protect kidney health.

A urologist assesses and manages urogenital anomalies. In males, this may include undescended testes or structural differences. In females, uterine or vaginal anomalies may occur. These may require surgical correction or further evaluation as the child grows.

A neurologist may be involved if there are concerns about seizures, abnormal muscle tone, or structural brain differences. Imaging studies and neurological assessments help identify issues that may affect motor function or development.

A developmental paediatrician monitors cognitive, motor, and social development. If delays are present, or if autism spectrum disorder or attention difficulties are suspected, this specialist helps coordinate assessments and early intervention.

A physiotherapist supports motor development and mobility, especially if the child has spinal abnormalities, low muscle tone, or balance issues. They help improve strength and coordination through targeted therapy.

An occupational therapist helps with fine motor skills, daily tasks, and sensory integration. They play a role in maximising independence and supporting overall development.

A psychologist or child psychiatrist may be involved if there are emotional, behavioural, or cognitive concerns. They assist with the diagnosis and treatment of conditions such as autism, ADHD, anxiety, or learning disorders, especially as the child grows.

In addition to medical professionals, a social worker can support families in accessing financial aid, educational services, and emotional support. A clinical nurse specialist or care coordinator may help manage appointments and communication between specialists, ensuring continuity of care.