/metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

Rare Disease

MONDO:0009599

Also Known As

metaphyseal dysostosis intellectual disability conductive deafnessmetaphyseal dysostosis mental retardation conductive deafnessmetaphyseal dysostosis, conductive hearing loss and intellectual disabilitymetaphyseal dysostosis, conductive hearing loss and mental retardationmetaphyseal dysostosis, intellectual disability, and conductive deafnessmetaphyseal dysostosis, mental retardation, and conductive deafness

Definition

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.