Condition Lookup
Sub-Category:
Inner Ear Malformations
Number of Conditions: 2
Mondini Dysplasia
Specialty: Ear
Category: Congenital and Developmental Ear Disorders
Sub-category: Inner Ear Malformations
Symptoms:
sensorineural hearing loss; recurrent balance issues; delayed speech development in children
Root Cause:
Incomplete development of the cochlea, often with one and a half turns instead of the normal two and a half turns, resulting in structural abnormalities of the inner ear.
How it's Diagnosed: videos
High-resolution CT or MRI to visualize the cochlear structure, audiometric tests to assess hearing loss.
Treatment:
Cochlear implants or hearing aids to improve hearing, vestibular therapy for balance issues.
Medications:
Not directly treated with medications. Supportive medications may include anti-nausea drugs like meclizine for vestibular symptoms.
Prevalence:
How common the health condition is within a specific population.
Rare, though exact prevalence is unknown; typically identified in childhood.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic mutations (e.g., SLC26A4), prenatal infections, or syndromic associations (e.g., Pendred syndrome).
Prognosis:
The expected outcome or course of the condition over time.
Varies; early intervention with hearing devices significantly improves outcomes.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Progressive hearing loss, susceptibility to meningitis due to cerebrospinal fluid leak, vestibular dysfunction.
Enlarged Vestibular Aqueduct Syndrome (EVAS)
Specialty: Ear
Category: Congenital and Developmental Ear Disorders
Sub-category: Inner Ear Malformations
Symptoms:
progressive or fluctuating hearing loss; episodes of vertigo; imbalance; delayed speech development in children
Root Cause:
Abnormally large vestibular aqueducts allow perilymphatic fluid to flow improperly, leading to hearing and balance dysfunction.
How it's Diagnosed: videos
CT or MRI to confirm the presence of enlarged vestibular aqueducts; audiometry to evaluate hearing levels.
Treatment:
Hearing aids or cochlear implants for hearing loss; avoidance of head trauma to prevent exacerbation of symptoms.
Medications:
No direct medications; supportive therapy for symptoms may include anti-vertigo drugs like betahistine.
Prevalence:
How common the health condition is within a specific population.
Estimated in 5–15% of children with sensorineural hearing loss.
Risk Factors:
Factors or behaviors that increase the likelihood of developing the condition.
Genetic mutations (e.g., SLC26A4 in Pendred syndrome), familial history of EVAS.
Prognosis:
The expected outcome or course of the condition over time.
Varies; early diagnosis and management improve quality of life, though hearing loss may be progressive.
Complications:
Additional problems or conditions that may arise as a result of the original condition.
Complete hearing loss, recurrent vertigo, and increased risk of trauma-induced hearing and balance deterioration.