About facio-auriculo-vertebral spectrum
What is facio-auriculo-vertebral spectrum?
Oculo-auriculo-vertebral spectrum (OAVS) refers to three rare disorders that many clinicians believe to be intimately related to one another and which represent the range of severity of the same disorder. These disorders are apparent at birth (congenital). As the name suggests, they involve malformations of the eyes, ears and spine.
Oculo-auriculo-vertebral disorder (OAVD) represents the mildest form of the disorder, while Goldenhar syndrome presents frequently as the most severe form. Hemifacial microstomia appears to be an intermediate form.
The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. However, such abnormalities tend to involve the cheekbones, jaw, mouth, ears, eyes, and/or bones of the spinal column (vertebrae). Although, in most cases (about 60%), such malformations affect one side of the body (unilateral), approximately 10 to 33 percent of affected individuals have such malformations on both sides of the body (bilateral), with one side typically more affected than the other (asymmetry). In the majority of such cases, the right side is more severely affected than the left.
In most cases OAVS appears to occur randomly, with no apparent cause (sporadic). However, in some cases, family histories suggest autosomal dominant or recessive inheritance. In addition, some researchers suggest that the disorder may be caused by the interaction of many genes, possibly in combination with environmental factors (multifactorial inheritance).
What are the symptoms for facio-auriculo-vertebral spectrum?
Oculo-auriculo-vertebral spectrum represents three rare disorders that are apparent at birth (congenital), and are characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. However, such abnormalities tend to involve the cheekbones, jaws, mouth, ears, eyes, and/or bones of the spinal column (vertebrae). In about 60 percent of the cases, such malformations involve one side of the body (unilateral). Yet, in approximately 10 to 33 percent of affected individuals, both sides of the body may be involved (bilateral), with one side usually more affected than the other (asymmetry). In many such cases, the right side is more severely affected than the left.
For unknown reasons, hemifacial microsomia (HFM) tends to affect only the right side of the face. IN HFM, both the jaw and the eye may be substantially smaller on the affected side. The cheek on the affected side may appear to be flatter due to under development of the cheekbones on that side. The external ear may be smaller (microtia) or even absent (anotia). There may also be hearing loss. Intelligence is not affected.
People with the Goldenhar variant of OAVS present with most if not all of the signs of HFM, but in 10 to 33 percent of the cases, the symptoms affect both sides of the face (bilateral). A cleft lip and/or cleft palate may be present but the presence of a cleft palate alone is more common. The muscles of the tongue and cheeks may cause severe difficulties with speech. Some tissue(s) of the eye may fail to close, presenting as a notch (coloboma) of varying size. In about one-third of cases, the patient presents with a cyst on the eye (dermoids cyst). Further, patients with Goldenhar syndrome can present with Heart defects as well as kidney problems. People with Goldenhar syndrome may have underdeveloped kidneys on one side or even the lack of a kidney on the affected side. Two or more vertebrae may be fused or knitted together. Intelligence is not affected.
What are the causes for facio-auriculo-vertebral spectrum?
In most cases, oculo-auriculo-vertebral spectrum occurs randomly, with no apparent cause (sporadic). However, in some cases, positive family histories have been identified that have suggested autosomal dominant, or, less frequently, autosomal recessive inheritance. In addition, many researchers suggest that OAVS may be caused by the interaction of many genes, possibly in combination with environmental factors (multifactorial inheritance).
For as yet unexplained reasons, it appears that women who have been exposed to certain medications (e.g., certain acne drugs with retinoic acid) or conditions (e.g., diabetes) during pregnancy have had children with abnormalities characteristic of OAVS. In addition, distinctive features associated with OAVS have also occurred in association with several chromosomal disorders. The implications of such findings are not fully understood.
What are the treatments for facio-auriculo-vertebral spectrum?
The treatment of OAVS is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists who may need to work together to ensure a comprehensive, systematic approach to treatment. Such specialists may include pediatricians; physicians who diagnose and treat disorders of the ears, nose, and throat (otolaryngologists); eye specialists (ophthalmologists); neurologists; heart (cardiologists) and/or lung (cardiothoracic) surgeons; physicians who specialize in the diagnosis and treatment of disorders of the kidneys (nephrologists), urinary tract (urologists), and digestive tract (gastroenterologists); plastic surgeons; specialists who assess and treat hearing problems (audiologists); speech pathologists; and/or other health care professionals.
What are the risk factors for facio-auriculo-vertebral spectrum?
OAVS affects males more frequently than females by an approximate 3:2 ratio. There is some disagreement in the medical literature concerning the disorder’s rate of occurrence. Reported estimates range from one in 3000 to 5000 live births up to one in 25,000-40,000 live births. Most of the physical characteristics associated with OAVS are apparent at birth (congenital), with the possible exception of facial asymmetry, which may not become apparent until approximately four years of age in many cases.
Is there a cure/medications for facio-auriculo-vertebral spectrum?
The term "facio-auriculo-vertebral spectrum" describes a group of three uncommon conditions that many medical professionals think are closely related to one another and which range in severity within the same disorder. These conditions are present at birth (congenital). They involve deformities of the eyes, ears, and spine, as the name would imply.
The least severe type of the disorder is represented by the facio-auriculo-vertebral spectrum, but the most severe is Goldenhar syndrome, which frequently manifests. A middle variant of hemifacial microsomia appears to exist.
These abnormalities typically affect the cheeks, jaw, mouth, ears, eyes, and/or spinal column bones (vertebrae). Although such malformations normally only affect one side of the body (about 60% of the time), between 10% and 33% of those who are affected have such deformities on both sides of the body (bilateral), with one side typically being more affected than the other (asymmetry). The right side is typically more seriously impacted than the left in such circumstances.
Treatment / Management
1. Starting in the first few days of birth, the therapy of patients with facio-auriculo-vertebral spectrum requires an interprofessional approach.
2. Pediatricians and neonatologists make the diagnosis of congenital abnormalities and begin treatment immediately after birth.
3. After a thorough examination, management should be personalized for the patient and concentrate on raising the quality of life.
4. Pediatricians, ophthalmologists, oral and maxillofacial surgeons, audiologists, otolaryngologists, speech therapists, orthodontists, plastic surgeons, radiologists, neurosurgeons, social workers, psychologists, and geneticists should be on the management team.
5. It is not the intent of this analysis to discuss the specific management of all systemic problems.
Underdeveloped upper jaw and lower jaw, Underdeveloped facial muscles and surrounding bones, Underdevelopment of the outer ear (microtia), ear tags, and middle
ear anomalies, Hearing loss, Vertebral anomalies
A complex of mainly craniofacial and vertebral anomalies