Genetic Conditions

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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Genetic Conditions

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