Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized 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.

Also known as: metaphyseal dysostosis intellectual disability conductive deafness, metaphyseal dysostosis mental retardation conductive deafness, metaphyseal dysostosis, conductive hearing loss and intellectual disability, metaphyseal dysostosis, conductive hearing loss and mental retardation, metaphyseal dysostosis, intellectual disability, and conductive deafness, metaphyseal dysostosis, mental retardation, and conductive deafness

0 clinical trials for this condition and its sub-types, 0 tagged with Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome itself.