Summary about Disease
Oculo-auriculo-vertebral dysplasia (OAV), also known as Goldenhar syndrome, is a rare congenital disorder characterized by anomalies affecting the eyes (oculo-), ears (auriculo-), and spine (vertebral). The severity and combination of features vary widely from person to person. It's typically unilateral (affecting one side of the body), but can be bilateral in some cases. OAV is not typically inherited, and its exact cause is not fully understood.
Symptoms
Symptoms vary greatly in severity and combination. Common features include:
Eyes: Epibulbar dermoids (benign growths on the eye), microphthalmia (small eye), coloboma (gap in the eye structure).
Ears: Microtia (small or malformed ear), ear tags, hearing loss.
Vertebrae: Hemivertebrae (wedge-shaped vertebrae), scoliosis.
Mouth and Jaw: Facial asymmetry, cleft lip and/or palate, micrognathia (small jaw).
Other: Skin tags, cardiac, kidney or lung problems.
Causes
The exact cause of OAV is largely unknown. Most cases are sporadic, meaning they occur randomly. Genetic factors are suspected, but no single gene has been consistently identified. Environmental factors during pregnancy may play a role, such as vascular disruption, drugs (thalidomide, retinoic acid), gestational diabetes.
Medicine Used
There is no specific medicine to "cure" OAV. Treatment focuses on managing specific symptoms and complications. Medications may include:
Pain relievers: For pain related to skeletal abnormalities or surgeries.
Antibiotics: For ear infections related to ear malformations.
Cardiac medications: If heart defects are present.
Medications for reflux.
Is Communicable
No, Oculo-auriculo-vertebral dysplasia is not a communicable disease. It is a congenital disorder, not caused by an infectious agent.
Precautions
Since the cause is largely unknown, primary prevention is difficult. Women planning pregnancy should:
Maintain a healthy lifestyle: This includes a balanced diet and avoiding harmful substances like alcohol and tobacco.
Manage pre-existing conditions: Control diabetes and other chronic illnesses.
Avoid certain medications: Discuss all medications with your doctor, particularly those known to be teratogenic (cause birth defects).
Consider genetic counseling: If there is a family history of birth defects.
How long does an outbreak last?
OAV is not an outbreak-related disease. It is a congenital condition present from birth. The "duration" refers to the lifespan of an individual with the condition.
How is it diagnosed?
Diagnosis is typically made based on:
Clinical examination: Physical assessment of the characteristic features (eye, ear, vertebral abnormalities).
Imaging studies: X-rays of the spine, CT scans of the head and face to evaluate bony structures.
Hearing tests: To assess hearing loss.
Echocardiogram: To evaluate for heart defects.
Genetic testing: Chromosomal microarray analysis or exome sequencing may be used to investigate potential genetic causes.
Timeline of Symptoms
Symptoms are present at birth (congenital). The initial presentation involves the noticeable physical features. The timeline of symptoms can be described as:
Prenatal: Some severe features may be detected during prenatal ultrasound.
Birth: Facial asymmetry, ear abnormalities, eye problems are typically evident.
Infancy/Childhood: Scoliosis may become apparent as the child grows. Hearing loss and speech difficulties may be detected. Other associated issues (cardiac, renal) may present during this time.
Adulthood: Long-term management of scoliosis and other related health problems continues.
Important Considerations
Variability: The severity and combination of symptoms vary widely.
Multidisciplinary care: Management requires a team of specialists, including ophthalmologists, otolaryngologists (ENT specialists), plastic surgeons, orthopedists, audiologists, and speech therapists.
Psychosocial support: The visible differences and associated health challenges can have a significant impact on self-esteem and social development. Counseling and support groups are important.
Early intervention: Early diagnosis and intervention are crucial to optimize outcomes.
Hearing loss: Early detection and management of hearing loss are essential for speech and language development.
Airway issues: The airway can be compromised and should be monitored by trained medical staff.