Conductive Deafness with Malformed External Ear is an extremeley rare autosomal recessive condiiton characterized by conductive hearing loss, malformed external ears, low-set external ears and malformed ossicles. Affected patients also mental retardation and hypogonadism.
The molecular basis of this condiiton is not known.
Megarbane et al (2005) decribed two affected Lebanese sisters born to consangunieous parents. The patients presneted with developmental delay, short stature, congenital microcephaly, abnormal ears, short neck, defects of the auditory canal and middle ear, and non-progressive hearing impairment.