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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0018230
skeletal dysplasia
is_a
metaphyseal dysostosis intellectual disability conductive deafness
related
metaphyseal dysostosis mental retardation conductive deafness
related
metaphyseal dysostosis, conductive hearing loss and intellectual disability
related
metaphyseal dysostosis, conductive hearing loss and mental retardation
related
metaphyseal dysostosis, mental retardation, and conductive deafness
related