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Indiana State Department of Health

Genomics Program Home > Early Hearing Detection and Intervention (EHDI) Program > Genetic Conditions Genetic Conditions Associated with Hearing Loss

Below is a table containing some of the genetic syndromes associated with hearing loss. Please note that this list does not contain every genetic syndrome associated with hearing loss. If you have questions or concerns about your child’s health, please contact your child’s doctor.
For more information on a specific condition, please click on the condition’s name.

Name How is it inherited? Type & severity of hearing loss Other features of condition
Alport syndrome
  • X-linked (most common)
  • Autosomal dominant
  • Autosomal recessive
  • Sensorineural
  • Usually progressive
  • Mild – profound
  • Hearing loss usually not seen before 10 years of age
  • Renal (kidney) problems
  • Ocular (eye) problems
  • Biotinidase deficiency (included in Indiana’s newborn screen)
  • Autosomal recessive
  • Hearing loss occurs in 75% of children with untreated biotinidase deficiency
  • Sensorineural
  • Seizures
  • Hypotonia (low or “floppy” muscle tone)
  • Developmental delay
  • Ataxia (clumsiness)
  • Hair loss
  • Eye problems
  • Skin rashes
  • Branchio-oto-renal syndrome
  • Autosomal dominant
  • Conductive
  • Sensorineural
  • Mixed
  • Abnormal formation of outer, inner, or middle ear
  • Renal (kidney) problems
  • Branchial cysts (growths) or tracts (openings) along neck muscles
  • CHARGE syndrome
  • Autosomal dominant
  • Most people with CHARGE syndrome do not have other family members with CHARGE syndrome
  • Sensorineural
  • Mixed
  • Colobomas (keyhole openings in iris, or colored part of eye)
  • Heart problems
  • Choanal atresia (narrowing of nasal passages)
  • Growth and developmental delays
  • Genital abnormalities
  • Ear abnormalities
  • Eye abnormalities
  • Jervell and Lange-Nielsen syndrome
  • Autosomal recessive
  • Sensorineural
  • Profound
  • Usually bilateral
  • Usually present at birth
  • Cardiac arrhythmias (abnormalities of heartbeat)
  • Syncope (fainting)
  • Kearns-Sayre syndrome
  • Mitochondrial
  • Symptoms usually appear before the age of 20
  • Pigmentary retinopathy (“salt and pepper” appearance to retina, or back of eye)
  • Progressive external ophthalmoplegia (drooping of eyelids and paralysis of eye muscles)
  • Heart rhythm abnormalities
  • Cerebellar ataxia (uncoordinated muscle movement or clumsiness)
  • Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)
  • Mitochondrial
  • Sensorineural hearing loss is common in patients with MELAS
  • Onset of symptoms usually in childhood (2 – 10 years)
  • Short stature
  • Seizures
  • Recurrent headaches
  • Recurrent vomiting
  • Limb (arm/leg) weakness
  • Short stroke-like episodes of paralysis or blindness
  • Pendred syndrome
  • Autosomal recessive
  • Sensorineural
  • Severe to profound hearing loss
  • Usually bilateral
  • Usually prelingual
  • Nonprogressive
  • Goiter (growth on/near thyroid)
  • Abnormalities of cochlea
  • Stickler syndrome
  • Autosomal dominant
  • Conductive
  • Sensorineural
  • Myopia (vision problems)
  • Cataracts (cloudiness of eye)
  • Cleft palate (opening in roof of mouth)
  • Micrognathia (small chin)
  • Bone abnormalities
  • Features can vary between family members with Stickler syndrome
  • Usher syndrome type I
  • Autosomal recessive
  • Sensorineural
  • Profound
  • Bilateral
  • Usually present at birth
  • Retinitis pigmentosa (progressive loss of function of the retina, or back of the eye)
  • Vision problems
  • Usher syndrome type II
  • Autosomal recessive
  • Sensorineural
  • Mild to moderate (low frequencies), severe to profound (high frequencies)
  • Bilateral
  • Usually present at birth
  • Retinitis pigmentosa (progressive loss of function of the retina, or back of the eye)
  • Waardenburg syndrome
  • Autosomal dominant (most common type of autosomal dominant hearing loss)
  • Sensorineural
  • Usually profound
  • Unilateral or bilateral
  • Usually nonprogressive
  • Usually present at birth
  • Pigmentary changes of iris (colored part of eye), hair, skin
  • Most patients with Waardenburg syndrome have white forelock (front part of hair) or have gray hair by the age of 30
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