The birth of a child is a momentous occasion, but when a baby is born with visible physical differences, it can bring a wave of uncertainty and concern for parents. One of the conditions that can present this challenge is Goldenhar syndrome, a rare congenital disorder that affects the development of the face and, in many cases, the spine. Receiving this diagnosis can feel overwhelming, but it is the first step on a journey of understanding and care. It is crucial for parents and families to know that Goldenhar syndrome exists on a wide spectrum, with effects ranging from very mild to severe. With the support of a dedicated team of medical specialists, children with this condition can navigate their challenges and go on to lead full, healthy, and successful lives.

Goldenhar syndrome is a rare congenital condition characterized by a collection of abnormalities that affect structures developing in the embryo. The condition primarily involves incomplete development of the eye, ear, and spine. Because of this classic combination, it is often referred to by a more descriptive medical name: Oculo-Auriculo-Vertebral Spectrum (OAVS). Breaking down this name helps clarify the key areas involved:

• Oculo- refers to the eye.
• Auriculo- refers to the ear.
• Vertebral refers to the vertebrae, the bones that make up the spine.

The term “spectrum” is perhaps the most important part of its modern definition. It highlights the fact that no two individuals with Goldenhar syndrome are exactly alike. The number and severity of features can vary dramatically from one person to another. One child might have only a minor ear tag and a slightly underdeveloped jaw, while another may have significant facial asymmetry, hearing loss, and spinal curvature.

Goldenhar syndrome is also closely related to, and sometimes considered a specific type of, hemifacial microsomia. This term means that one side of the face (“hemi”) is smaller (“micro”) than the other. In classic Goldenhar syndrome, this facial asymmetry is accompanied by the characteristic vertebral abnormalities. The condition typically affects one side of the body (unilateral), but in about 10-30% of cases, it can affect both sides (bilateral), though usually one side is more affected than the other.

The physical characteristics of Goldenhar syndrome result from disruption of normal development in the first and second branchial arches around the 4th to 8th week of gestation. These arches are fundamental “building blocks” that are programmed to form most of the structures of the face and neck, including the bones of the jaw, the muscles for chewing and facial expression, and the intricate parts of the outer and middle ear.

In an embryo that develops Goldenhar syndrome, the formation of these first two branchial arches is disrupted. This disruption leads to the incomplete or incorrect development of all the structures that were supposed to arise from them, resulting in the characteristic eye, ear, and jaw abnormalities. The cause of the vertebral issues is thought to be related to problems in the formation of the somites, another set of early embryonic structures that give rise to the spine and muscles.

While we understand what happens during development, the more difficult question is why this disruption occurs. For the vast majority of cases, the precise trigger for this developmental error is unknown. It is not caused by anything the mother did or did not do during pregnancy. It is believed to be a complex event, likely resulting from a combination of genetic predispositions and potential environmental influences that coincide during a very specific and vulnerable window of embryonic development.

When parents receive this diagnosis, one of their first questions is often, “Did we cause this?” The answer, in almost all cases, is a resounding no. The way Goldenhar syndrome arises is complex and typically not inherited.

• The Sporadic Nature of Goldenhar Syndrome: Approximately 95% or more of Goldenhar syndrome cases are sporadic. This means the condition occurs randomly, by chance, in a child with no prior family history of the disorder. The genetic changes that lead to the condition happen for the first time in that individual. In these sporadic cases, the risk of the affected parents having another child with the same syndrome is very low, generally less than 1%.
• Genetic and Familial Links: In a very small percentage of cases (estimated at 1-2%), Goldenhar syndrome can be familial, meaning it is passed down through generations. When it is inherited, it can follow different patterns, most commonly autosomal dominant or, more rarely, autosomal recessive. However, even within families, the expression of the syndrome can vary widely, a parent might have a very mild form, while their child has a more significant presentation. Genetic counseling is very important for families where an inherited pattern is suspected.
• Potential Environmental Risk Factors: Researchers have investigated several environmental factors during pregnancy that might be associated with a slightly increased risk of craniofacial abnormalities, including those seen in Goldenhar syndrome. These include maternal diabetes, certain medications (like retinoic acid, some blood pressure drugs, and anticonvulsants), and vascular disruptions in the embryo. It’s crucial to note that these are associations, not proven causes, and the vast majority of women with these factors have healthy babies.

Clinically, we often suspect multifactorial causes, meaning a combination of subtle genetic susceptibilities and environmental influences, rather than one direct trigger.

Signs of Goldenhar syndrome are typically present at birth. The combination and severity of these features vary greatly.

The most common characteristics are organized by the affected body part.

Facial and Jaw Abnormalities:

• Facial Asymmetry: This is a hallmark of the syndrome. One side of the face appears smaller or flatter than the other due to underdeveloped bone and soft tissue.
• Mandibular Hypoplasia: The lower jaw (mandible) on the affected side is underdeveloped, which can affect the bite and facial symmetry.
• Cleft Lip or Cleft Palate: An opening in the lip or the roof of the mouth may be present.

Ear Abnormalities (Auricular):

• Microtia: The outer ear (pinna) is small, malformed, or underdeveloped. It can range from being slightly smaller than normal to being just a small nub of tissue.
• Anotia: In severe cases, there is a complete absence of the outer ear.
• Ear Tags: Small, benign growths of skin and cartilage are often found in front of the ear or on the cheek.
• Hearing Loss: The ear canal may be narrow or absent (atresia), and the tiny bones of the middle ear may be malformed, leading to conductive hearing loss on the affected side.

Eye Abnormalities (Ocular):

• Epibulbar Dermoids: These are common, benign (non-cancerous) growths that appear as yellowish-white, solid masses on the surface of the eye.
• Eyelid Coloboma: A notch or gap may be present in the upper or lower eyelid.
• Microphthalmia: The eye on the affected side may be smaller than normal.

Spinal Abnormalities (Vertebral):

About 40-60% of individuals with Goldenhar syndrome have issues with the bones of the spine. These can include:

• Fused vertebrae (two or more vertebrae joined together)
• Incomplete or misshapen vertebrae (hemivertebrae)
• Scoliosis (a sideways curvature of the spine)

Other Potential Issues: Less frequently, children with Goldenhar syndrome may have abnormalities in other body systems, including congenital heart defects, kidney or urinary tract problems, or differences in the structure of the central nervous system.

Diagnosis

The diagnosis of Goldenhar syndrome is typically made at birth based on a thorough physical examination. The presence of the characteristic combination of facial, ear, and eye features is usually enough to make a clinical diagnosis. While some features may be detected on a prenatal ultrasound, a definitive diagnosis is often impossible until after the baby is born.

Once a diagnosis is suspected, a team of specialists is brought in to conduct a comprehensive “work-up.” This diagnostic process usually includes:

• A detailed hearing evaluation by an audiologist
• A complete eye examination by a pediatric ophthalmologist
• Spine imaging, such as X-rays or a CT scan, to look for vertebral abnormalities
• An ultrasound of the heart (echocardiogram) to screen for any cardiac defects
• An ultrasound of the kidneys to check structural issues
• A consultation with a geneticist to discuss the diagnosis and any potential familial links

Treatment

There is no cure for Goldenhar Disease, but treatment focuses on correcting physical anomalies, supporting normal development, and enhancing quality of life. This requires a long-term, coordinated multidisciplinary team approach.

The care team may include a wide range of specialists:

• Craniofacial Surgeon: A surgeon specializing in facial and skull reconstruction
• ENT (Otolaryngology) Specialist: A doctor who manages ear, nose, and throat issues, including hearing loss and ear reconstruction
• Audiologist: A specialist who tests and manages hearing
• Ophthalmologist: An eye doctor
• Orthopedic Surgeon: To manage scoliosis and other spinal issues
• Orthodontist and Oral Surgeon: To manage jaw growth and dental alignment
• Speech and Language Therapist: To help with any speech issues related to hearing loss or a cleft palate
• Genetic Counselor: To provide information and support to the family

The treatment plan is a long-term journey, with interventions timed for optimal results.

• Infancy: The immediate focus is on managing breathing and feeding.
• Early Childhood (Ages 5-10): This is often the period when initial reconstructive surgeries take place. This can include the first stages of jaw lengthening (mandibular distraction osteogenesis) or outer ear reconstruction (auricular reconstruction).
• Adolescence: As the child goes through their final growth spurts, further procedures are often needed. This can include final jaw surgery to achieve facial symmetry and proper bite alignment, orthodontic treatment (braces), and cosmetic refinements to previous reconstructions.

A diagnosis of Goldenhar syndrome marks the beginning of a unique journey for a child and their family. It is a complex and highly variable condition, meaning the challenges and the path forward will be different for every individual. While the prospect of multiple surgeries and specialist appointments can be daunting, it is vital for parents to remember two key things. First, the vast majority of cases happen by accident and are no one’s fault. Second, and most importantly, a dedicated, multidisciplinary medical team can manage the functional and aesthetic challenges of the syndrome effectively. With proactive care, strong family support, and a focus on their unique abilities, children born with Goldenhar syndrome can overcome their obstacles and thrive both socially and academically.

• Boston Children’s Hospital. (n.d.). Goldenhar syndrome. Retrieved from https://www.childrenshospital.org/conditions/goldenhar-syndrome
• National Institutes of Health, Genetic and Rare Diseases Information Center (GARD). (2021). Goldenhar syndrome. Retrieved from https://rarediseases.info.nih.gov/diseases/6523/goldenhar-syndrome
• National Organization for Rare Disorders (NORD). (2023). Goldenhar syndrome. Retrieved from https://rarediseases.org/rare-diseases/goldenhar-syndrome/