Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Other Names: Metaphyseal dysostosis, conductive hearing loss and mental retardation (formerly) Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.
NIH genetic and rare disease info[edit source]
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is a rare disease.
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