Syndrome

Inheritance

Features

Waardenburg

autosomal dominant with variable expression

white forelock, moderate to profound unilateral or bilateral sensorineural deafness, vitiligo, hypopigmentation, and/or differently colored eyes or bright blue eyes

Type I includes the appearance of widely spaced eyes (dystopia canthorum)

Treacher-Collins

autosomal dominant with variable expression

downward sloping eye openings, flattened cheek bones, malformed or absent outer ears, small chin, coloboma (notch) of the lower eyelid, and conductive hearing loss

Branchio-oto-renal (BOR)

autosomal dominant with variable expression

sensorineural, conductive or mixed hearing loss with ear pits, fistulas or cysts of the neck; altered ear shape, and/or structural or functional changes in the kidney

Usher

autosomal recessive

sensorineural deafness with retinitis pigmentosa (a progressive disease of the rod cells in the retina resulting in visual impairment); vestibular dysfunction in some types

Jervell and Lange-Nielsen (JLN)

autosomal recessive

congenital sensorineural hearing loss associated with a heart defect, specifically a prolonged QT interval on EKG placing these individuals at risk for sudden death

Pendred

autosomal recessive

sensorineural hearing loss (may be progressive), goiter (usually euthyroid), enlarged vestibular aqueduct and/or Mondini dysplasia