Oculo Auriculo Vertebral Spectrum

What is Oculo Auriculo Vertebral Spectrum?

Oculo-auriculo-vertebral spectrum (OAVS) is a birth defect that affects the development of the face and other body parts. This condition was first realized by an eye doctor named Maurice Goldenhar in 1952, who noted its impact on the eye, ears, and facial features. Later, in 1963, certain spine abnormalities were added to the list of OAVS symptoms, which has led to the condition sometimes also being called Goldenhar syndrome or facio-auriculo-vertebral syndrome.

They noticed that this disorder showcases a range of similar symptoms that can affect various parts of the body, including the eyes, mouth, ears, upper and lower jaw among others. It can also affect vital organs like the brain, heart, kidneys, and the skeletal system. Due to the potential for a wide range of issues outside of the face, we must not confuse OAVS with the term “hemifacial microsomia,” which refers primarily to smaller-than-normal facial structures.

Those with OAVS may carry certain physical characteristics, including smaller than normal ears, uneven facial features, and certain fatty growths on the eyes. Some suggested characteristics for a minimum OAVS diagnosis include either visibly smaller ears or skin tags near the ear along with uneven facial structures.

The severity of OAVS can differ greatly amongst individuals, ranging from mild facial differences to severe, noticeable defects that extend to internal organs. There have also been cases in which OAVS caused a delay in development or intellectual disabilities.

Taking care of patients with OAVS can be tough due to the many possible abnormalities and the range of severity in symptoms. This requires professionals from multiple fields to work together and create a customized treatment plan that addresses each patient’s individual needs. This passage discusses the causes, development, various physical appearances, and treatment options for patients with OAVS, focusing particularly on the eye-related symptoms.

What Causes Oculo Auriculo Vertebral Spectrum?

Oculo-auriculo-vertebral syndrome (OAVS) is a complex condition that is believed to be caused by a mix of genetic and environmental influences. In some cases, the syndrome is known to run in families, which suggests a genetic component to the condition. Although our understanding of the genetics of the disease and how it develops in the womb has improved, we still don’t fully understand exactly what causes it.

Genetic Factors

Often, OAVS occurs sporadically, or out of the blue. However, in about 2 to 12% of cases, it has been noted to run in families. Whether the syndrome appears suddenly or within a family, the physical characteristics are usually similar. Anybody closely related to someone with OAVS, like siblings or parents, have a 2 to 3% risk of developing the syndrome as well. Researchers have linked the syndrome to abnormalities in several chromosomes, notably:

• The 5p15.33-pter deletion (most common type)
• Deletion of the 12p13.33 region, involving the WNT5B gene
• Overlapping microduplications on 14q23.1
• Anomalies in the 22q and 14g32 chromosomes, containing GSC (GOOSECOID) gene

In addition, there have also been links made to a number of other chromosomal abnormalities and anomalies.

Environmental Factors

The syndrome could also be influenced by certain events or conditions occurring before or during pregnancy. These include having diabetes during pregnancy, having multiple pregnancies (like twins), underactive thyroid gland in the mother, using fertility treatments, hormonal therapies, exposure to a drug called tamoxifen, having celiac disease or taking the drug thalidomide. Disruptions in blood flow to the developing embryo, usage of drugs affecting blood vessels, smoking, or older age of parents could also play a role.

Researchers mostly accept the theory that disruptions in blood flow to the developing embryo due to these environmental factors could lead to the development of the syndrome. There are some other factors related to the time of birth that are also thought to contribute, like premature birth and bleeding during pregnancy. Some scientists believe that “epigenetic” mechanisms (essentially, how genes interact with the environment) might help explain how these genetic and environmental factors come together to cause the syndrome.

Risk Factors and Frequency for Oculo Auriculo Vertebral Spectrum

Oculo-auriculo-vertebral spectrum (OAVS) affects 1 out of every 3500 to 45,000 newborn babies. It usually causes facial abnormalities on one side, most often on the right, leading to an asymmetrical face. However, both sides can be affected asymetrically in 10 to 33% of cases.

OAVS is more common in male infants than female infants, with a ratio of 3 to 2. Most children affected by OAVS will live a normal lifespan and have normal intelligence. It’s usually a random occurrence, but some family-related cases account for 2 to 12% of total cases. These may be due to both dominant and recessive genes being involved. However, a pattern of inheritance involving multiple factors has also been reported.

• OAVS affects between 1 in 3500 to 1 in 45,000 live births.
• Facial abnormalities are usually one-sided, leading to asymmetric faces. The right side is more commonly impacted.
• In 10% to 33% of cases, both sides of the face can be asymmetrically affected.
• OAVS is more common in males than females, with a 3:2 ratio.
• Children with OAVS generally have a normal lifespan and intelligence.
• While most cases of OAVS happen randomly, 2% to 12% are familial cases.
• In familial cases, both dominant and recessive inheritance patterns have been reported. There can also be a multifactorial pattern of inheritance.

Signs and Symptoms of Oculo Auriculo Vertebral Spectrum

OAVS (Oculo-Auriculo-Vertebral Spectrum) refers to a range of symptoms that may differ from person to person. These alterations affect things like the jaw, ears, spine and in some cases, other parts of the body. Here’s a simple overview of the most common symptoms of OAVS and how they affect different areas of the body:

• Mandibular Hypoplasia: This manifests as underdeveloped jaw (especially one side) which can lead to facial asymmetry.
• Ear Malformations: May include small ears, changes in the ear’s shape, or even other abnormalities around the ear area. Most people suffering from OAVS have some form of ear abnormalities.
• Eye Abnormalities: Around 70% of cases present with eye issues such as small or large eyes or a growth on the covering of the eye.
• Spinal Deformities: These occur in around two-thirds of patients with irregular spinal bones or spinal curves.
• Brain Abnormalities: There are some examples of patients having different areas and structures of the brain being affected such as enlarged fluid spaces.
• Developmental Delay: Some patients have reported slower than average development, issues with language development, and trouble swallowing.
• Heart Defects: About a third of patients may have heart problems at birth such as holes in the heart or improper blood flow through the heart.
• Facial Abnormalities: These can range from an underdeveloped lower portion of the face, large mouth, cleft lip or palate, or irregularities with the teeth.

Remember, while these are the most common features, OAVS can affect different individuals in distinct ways. Whether it affects only a few or multiple areas of the body can vary from person to person.

Testing for Oculo Auriculo Vertebral Spectrum

If your child has signs of some eye problems and facial deformities, it’s crucial to get them examined early. This can help avoid worsening of the condition and any further complications that might affect the whole body. It also helps them grow up with better social and psychological health, as it can avoid some potential stigma.

At a doctor’s visit, the eye doctor will examine your child’s eyes in various ways to check their vision and how well their eyes move, and to see if there’s any inflammation and unusual growths. If a particular unusual growth, known as an eyelid coloboma, is found, which can cause damage to the front of the eye, this would need surgery urgently to protect your child’s sight.

Another type of growth that can occur is a ‘limbal dermoid’. This is a rare harmless growth made up of normal tissue in the wrong place, and can cause disturbances to vision. It can appear as a lump on the edge of the cornea (the clear front of the eye) and can sometimes look as if it has hair and oily glands. To determine the severity of this condition doctors use a grading system. This grading considers things such as the size of the growth, its shape and how much it affects the conjunctiva (the clear tissue covering the front of the eye). The doctors use this information to predict how a child’s vision might improve after surgery.

There are also special imaging examinations that can be done. The anterior segment optical coherence tomography (ASOCT) and ultrasound biomicroscopy (UBM) examine how far the growth extends into the cornea and whether it affects the region where fluid drains from the eye. The eye doctor may also refer your child to other specialists for further evaluation, such as an ear, nose and throat (ENT) specialist, as well audiologists and orthopedics among others.

It’s important to check your child’s brain and hearing, as these can also be affected. Brain examinations might involve MRI or CT scans (imaging tests which provide detailed pictures of the brain), and the hearing tests may involve conduction and brainstem audiometry.

The diagnosis of this condition, known formally as oculo-auriculo-vertebral spectrum (OAVS), is usually based on the physical features your child has, and there isn’t a specific genetic test for it. Genetic counseling can help if there are any other family members with similar features. There’s a small chance that a sibling of your child might also get this condition, even if there’s no other family history and if your child’s chromosomes are normal.

If you’re planning to have another child and you already have a child with this condition, or if this condition is known to run in your family, you might want to consider prenatal diagnosis. This can involve ultrasound exams to detect any abnormalities in the baby while in the womb. In severe cases, doctors can even identify small eyes and unusual growths in the ears as early as 14 weeks into the pregnancy. More detailed 3-D scans can identify milder cases. More invasive tests, such as getting samples of placental tissue or amniotic fluid (the fluid surrounding the baby in the womb), should be used only if the baby is confirmed to have a genetic mutation causing OAVS.

Treatment Options for Oculo Auriculo Vertebral Spectrum

Treating patients with OAVS, a condition affecting certain bodily functions and features, involves a teamwork approach from the get-go. This team includes newborn and child doctors, who identify and start to treat the issue at birth.

Each patient will have a unique treatment plan centered around improving their quality of life. The team that creates and enacts this plan may consist of multiple kinds of doctors and specialists, including a child doctor, eye doctor, oral and maxillofacial surgeon, hearing specialist, ear, nose, and throat doctor, speech therapist, orthodontist, plastic surgeon, imaging specialist, brain surgeon, social worker, psychologist, and a genetics expert. This summary doesn’t cover the detailed treatment of all possible related health issues.

In terms of specific eye issues related to OAVS, a gap in the upper eyelid is considered a medical emergency. This problem usually needs surgical attention in the first few days after birth to prevent further damage and vision issues. Initial treatments include eye drops, gels, and contact lenses. The surgical approach will depend on the size of the gap, where it’s located, and the child’s overall health condition. The options range from sewing the gap shut, creating a skin flap to cover the opening, or grafting skin to fill the gap. After this surgery, there’s a risk of lazy eye due to having to cover the eye temporarily.

Another eye problem, often referred to as dermoid, requires regular check-ups to monitor growth, vision quality, detect signs of lazy eye, and examine the eye’s focus. Small lesions causing mild, regular blurred vision but with good overall eyesight may be treated with glasses. Surgery may be needed for larger lesions causing deteriorating vision which do not respond well to glasses, vision issues due to the lesion’s enlargement, lazy eye, chronic irritation of the eye’s surface, appearance considerations, blurred vision due to an uneven focus between the two eyes, inadequate eyelid closure, and all grade II and III dermoids. The surgical options depend on the grade or severity of the condition. There are numerous procedures which range from simple removal to total reconstruction. Surgical removal might be followed by adding a tattoo to make the scars on the cornea and around the eye less noticeable.

Also, after a dermoid removal, there may be a risk of developing a wing-shaped fold of the eye’s conjunctiva over the bare area. One technique to prevent this involves applying a particular drug to the area after the dermoid removal.

Another eye problem, Lipodermoid, turns more yellow due to a deep layer of fat cells. It often involves extensive parts of the eye, with the top outer area of the eyeball usually the most affected. However, it rarely causes functional problems like vision impairment or eye movement restrictions. Therefore, surgical treatment is mainly cosmetic and can include removing the growth and reconstructing the surrounding eye tissue, with or without a transplant of amniotic membrane, which is a thin tissue that lines the inside of the amniotic sac surrounding a baby during pregnancy.

What else can Oculo Auriculo Vertebral Spectrum be?

Oculo-auriculo-vertebral spectrum (OAVS) shares similar clinical features with several inheritable disorders and syndromes. Though they may seem alike, these other conditions have unique qualities that differentiate them from OAVS.

Here are some of these disorders and syndromes:

• Treacher Collins Syndrome: This condition shows hypoplasia (underdevelopment) in the zygomatic bone and mandible, abnormalities in the external ear, hearing problems, and displacement of hair from the preauricular area to the cheeks. The syndrome is evident through craniofacial symmetry. A primary distinguishing feature is the lack of eyelashes on the lower lid.
• Townes-Brocks Syndrome: Individuals with this syndrome have abnormal ears, hearing impairment, thumb malformations, and kidney problems. The distinct characteristic of this disorder is anal anomalies.
• CHARGE Syndrome: This syndrome causes a variety of malformations such as in the iris and heart, growth retardation, genital malformations, and ear abnormalities. Distinctive features include a unique ear shape and choanal atresia or blockages in the rear of the nasal passage.
• Branchio-oto-renal Spectrum Disorders: This condition also leads to abnormalities in the outer, middle, and inner ear, hearing concerns, branchial fistulae and cysts, and renal malformations that can be mild or severe. The primary distinguishing characteristic here is branchial fistulae and cysts.
• EFTUD2 related Disorder: This is a syndrome that causes a wide range of malformations including facial abnormalities, thumb anomalies, intellectual disability, zygomatic anomalies, and microcephaly, which means a smaller than normal head size. The primary distinguishing feature is the presence of microcephaly and esophageal atresia, or the underdevelopment and blockage of the esophagus.

What to expect with Oculo Auriculo Vertebral Spectrum

OAVS, a disorder with a variety of symptoms, can impact a person’s prognosis or future health outlook based on how severe the disease is and how quickly treatment begins. In some cases, a child born with OAVS may have severe airway obstruction and other complications, which can make the prognosis less favorable. However, if treatment starts early, these complications can be managed or prevented. Usually, the lifespan of a person with OAVS is similar to that of the general population.

Fixing all facial abnormalities in a patient with OAVS is a complicated process that often requires multiple surgeries. Consequently, it’s hard to predict the future health of these patients because each person may present differently. Their vision prognosis, or future vision health, is usually good if conditions like lid coloboma and dermoid are corrected early to avoid the development of amblyopia, or lazy eye.

Children with OAVS can be significantly impacted by their condition as it often results in noticeable facial and ear differences. They may face negative social reactions, which can lead to depression and feelings of isolation, potentially impacting their mental health. Additionally, having a child with such a condition can also impact the mental health and social relationships of their parents. Consultations with a mental health professional and ongoing counseling play a key role in managing these issues.

Having a mental disability in addition to OAVS can further impact a person’s quality of life. That’s why early treatment of all physical and functional disorders, such as speech abnormalities, is incredibly important. It sets a path to improve the quality of life for these individuals.

Possible Complications When Diagnosed with Oculo Auriculo Vertebral Spectrum

Possible eye issues or complications can include mild blindness in one eye (amblyopia), a cloudy cornea (corneal opacity), loss of vision, dry eyes due to too much exposure (exposure keratopathy), ulcers on the cornea, chronic inflammation on the surface of the eye due to dermoid cysts, and an inability to close the eyelids properly.

Common Eye Complications:

• Mild blindness in one eye
• Cloudy cornea
• Loss of vision
• Dry eyes due to too much exposure
• Ulcers on the cornea
• Chronic inflammation on the eye surface due to dermoid cysts
• Inability to close the eyelids properly

Recovery from Oculo Auriculo Vertebral Spectrum

Rehabilitation after surgery is key, especially in cases pertaining to the correction of facial and eye abnormalities. Following the removal of dermoid – noncancerous tumors – it’s crucial to ensure the precise amendment of vision deficit . Alongside this, managing amblyopia, commonly known as lazy eye, should also be carried out.

Preventing Oculo Auriculo Vertebral Spectrum

When a newborn child is diagnosed with a congenital malformation, it involves a condition that they were born with. Understanding and managing this situation requires the family and parents to be well-informed. A team of different healthcare professionals is often needed to coordinate the child’s care. Fixing the different issues the child may have should be addressed as soon as possible. Genetics counseling and checking other family members could also be critical; this helps understand if the condition could occur in other family members.