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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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Is Mondini dysplasia inherited?

Mondini dysplasia usually occurs sporadically as an isolated abnormality (occurring in only one individual in a family with no other abnormalities) but it can be associated with a variety of syndromes including Klippel Feil syndrome, Pendred syndrome, DiGeorge syndrome, Wildervanck syndrome, Fountain syndrome, Johanson-Blizzard syndrome, and some chromosomal trisomies.[1][2] These syndromes can be inherited in a variety of ways, but Mondini dysplasia may not occur in each affected individual. It has also has been reported in families with congenital sensorineural hearing loss, both with autosomal dominant and presumed autosomal recessive inheritance.[3] One study described familial nonsyndromic Mondini dysplasia in a mother, son and daughter with presumed autosomal dominant inheritance;[2] another study described familial nonsyndromic Mondini dysplasia in a family in which transmission was most consistent with autosomal recessive inheritance.[2] It has also been suggested that Mondini dysplasia may be associated with substances that may harm a developing fetus when a pregnant woman is exposed (teratogens) such as thalidomide or rubella.[2] Being that Mondini dysplasia has been associated with a variety of conditions, inheritance patterns, and both genetic and non-genetic causes, it appears to be inherited in some cases, with the inheritance pattern being dependent upon the underlying cause of the condition in each individual or family.
Last updated: 2/27/2012

  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. Griffith AJ et al. Familial Mondini dysplasia. Laryngoscope. September 1998; 108(9):1368-73.
  3. Arellano B, Ramírez Camacho R, García Berrocal JR, Villamar M, del Castillo I, Moreno F. Sensorineural hearing loss and Mondini dysplasia caused by a deletion at locus DFN3. Arch Otolaryngol Head Neck Surg. September 2000; 126(9):1065-1069.