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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Mondini dysplasia


Other Names for this Disease
  • Familial nonsyndromal Mondini dysplasia (subtype)
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Symptoms


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What are the signs and symptoms of Mondini dysplasia?

Mondini dysplasia is a congenital malformation (present at birth). It may occur either unilaterally (in one ear) or bilaterally (in both ears). Most affected individuals have profound sensorineural hearing loss, but some individuals do have residual hearing.[1] There have also been reports of affected individuals having normal hearing.[2] Mondini dysplasia can also predispose to recurrent meningitis because the defect can act as a "port of entry" to the fluid that surrounds the brain and spinal cord (cerebrospinal fluid, or CSF). Sometimes, individuals are not diagnosed before several episodes of recurrent meningitis occur.[1] The condition may occur with other abnormalities of the ear or other organs, or it may be isolated. The severity of the physical abnormality does not appear to correlate with the severity of the signs and symptoms in affected individuals.[2]
Last updated: 2/24/2012

References
  1. Masri A. et al. Mondini malformation associated with diastematomyelia and presenting with recurrent meningitis. J Child Neurol. May 2011; 26(5):622-624.
  2. Daneshi A, Hassanzadeh S, Abasalipour P, Emamdjomeh H, Farhadi M. Cochlear implantation in Mondini dysplasia. ORL J Otorhinolaryngol Relat Spec. January-February 2003; 65(1):39-44.