Condition Lookup

Microtia (Underdeveloped Outer Ear)

Specialty: Ear

Category: Congenital and Developmental Ear Disorders

Sub-category: Outer Ear Malformations

Symptoms:
underdeveloped or absent external ear structure; hearing loss (conductive); asymmetry of the ears

Root Cause:
Incomplete development of the outer ear during fetal growth, often associated with genetic mutations or environmental factors during pregnancy.

How it's Diagnosed: videos
Physical examination at birth, imaging studies like CT or MRI to assess the middle and inner ear, and audiological testing to evaluate hearing function.

Treatment:
Surgical reconstruction of the ear (e.g., rib cartilage graft or prosthetic ear), bone-anchored hearing aids (BAHA) for hearing restoration, and speech therapy if hearing loss impacts language development.

Medications:
No specific medications treat Microtia directly. However, antibiotics may be prescribed if infections occur in associated ear abnormalities.

Prevalence: How common the health condition is within a specific population.
Affects approximately 1 in 6,000 to 12,000 live births globally; more common in males and on the right side of the head.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history, maternal diabetes, maternal use of isotretinoin (acne medication), or exposure to teratogens during pregnancy.

Prognosis: The expected outcome or course of the condition over time.
Good with appropriate surgical or prosthetic intervention; most individuals can achieve functional hearing and improved aesthetic appearance.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Hearing impairment, social or psychological distress due to appearance, and possible association with syndromes like Treacher Collins or Goldenhar syndrome.

Atresia (Absence of the Ear Canal)

Specialty: Ear

Category: Congenital and Developmental Ear Disorders

Sub-category: External Ear Canal Disorders

Symptoms:
absence or narrowing of the ear canal; hearing loss (conductive); wax buildup in residual ear canal

Root Cause:
Failure of the ear canal to develop fully during fetal development, often coexisting with Microtia.

How it's Diagnosed: videos
Visual inspection, CT imaging to assess ear canal structure and middle ear anatomy, and audiometry for hearing assessment.

Treatment:
Surgical canaloplasty (ear canal reconstruction), bone-anchored hearing aids (BAHA), or hearing implants in severe cases.

Medications:
Antibiotics for any secondary infections; otherwise, no direct pharmacological treatment.

Prevalence: How common the health condition is within a specific population.
Occurs in approximately 1 in 10,000 to 20,000 births, often with Microtia.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Genetic predisposition, exposure to teratogens, or syndromic associations (e.g., Treacher Collins syndrome).

Prognosis: The expected outcome or course of the condition over time.
Hearing can be restored partially or fully with appropriate surgical and hearing aid interventions; the condition does not typically affect life expectancy.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Chronic ear infections, cholesteatoma formation, and hearing impairment if untreated.

Preauricular Pits or Tags

Specialty: Ear

Category: Congenital and Developmental Ear Disorders

Sub-category: Outer Ear Anomalies

Symptoms:
small indentations (pits) or skin tags near the ear; possible discharge if pits become infected; cosmetic concerns

Root Cause:
Developmental anomaly of the first and second pharyngeal arches during embryogenesis.

How it's Diagnosed: videos
Physical examination at birth; imaging studies or genetic testing may be done if associated syndromes are suspected.

Treatment:
Surgical removal for cosmetic reasons or recurrent infections; antibiotics for infected pits.

Medications:
Oral or topical antibiotics like amoxicillin or clindamycin may be prescribed for infections.

Prevalence: How common the health condition is within a specific population.
Seen in approximately 0.1–0.9% of the population; more common in certain ethnic groups and typically isolated findings.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history, syndromic associations (e.g., Branchio-Oto-Renal syndrome).

Prognosis: The expected outcome or course of the condition over time.
Excellent; rarely impacts hearing or overall health when isolated.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Infection, abscess formation, or association with congenital syndromes in rare cases.

Congenital Cholesteatoma

Specialty: Ear

Category: Congenital and Developmental Ear Disorders

Sub-category: Middle and Inner Ear Malformations

Symptoms:
hearing loss; recurrent ear infections; persistent drainage from the ear; balance issues in some cases; facial nerve weakness (rare)

Root Cause:
Abnormal collection of keratinizing squamous epithelium within the middle ear present from birth, typically due to incomplete resorption of embryonic cells.

How it's Diagnosed: videos
Clinical examination, otoscopy to visualize the mass, imaging studies such as CT or MRI to assess extent and complications.

Treatment:
Surgical removal of the cholesteatoma to prevent complications, followed by regular follow-ups.

Medications:
Antibiotic ear drops (e.g., ciprofloxacin ) may be prescribed to manage infections. Pain relief medications like acetaminophen or ibuprofen may be used post-surgery.

Prevalence: How common the health condition is within a specific population.
Rare, accounting for 2–5% of all cholesteatomas.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
No specific risk factors identified; occurs sporadically without familial or environmental influence.

Prognosis: The expected outcome or course of the condition over time.
Good with early diagnosis and surgical treatment; untreated cases may lead to hearing loss, infection, or intracranial complications.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Hearing loss, tympanic membrane perforation, facial nerve paralysis, labyrinthitis, intracranial abscess, or meningitis.

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.