| 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 |
