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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-03-2009
Symbol OTDD
Location 11q13
Name otodental dysplasia
Corresponding gene FGF3
Main clinical features
  • sensorineural hearing loss with microtia and dental anomalies, high frequency hearing loss varied in onset from early childhood to middle age
  • grossly enlarged molar teeth (globodontia), maxillary deciduous canines and the deciduous and permanent molars were large and bulbous, but the incisors were normal
  • Genetic determination autosomal recessive
    Function/system disorder ear
    digestive tract/liver and annex
    Type malformation
    Genotype/Phenotype correlations additional hemizygous deletion of FADD, TMEM16A and C11orf78 in OTDD with coloboma