syndromic intellectual disability syndromic disease metaphyseal dysostosis-intellectual disability-conductive deafness syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://rarediseases.info.nih.gov/diseases/3566/metaphyseal-dysostosis-mental-retardation-conductive-deafness https://www.malacards.org/card/metaphyseal_dysostosis_impaired_intellectual_development_and_conductive_deafness https://www.malacards.org/card/metaphyseal_dysostosis_intellectual_disability_conductive_deafness_syndrome MEDGEN:344437 metaphyseal dysostosis, mental retardation, and conductive deafness metaphyseal dysostosis, conductive hearing loss and mental retardation OMIM:250420 MESH:C565396 metaphyseal dysostosis mental retardation conductive deafness UMLS:C1855175 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. Orphanet:2502 GARD:0003566 metaphyseal dysostosis intellectual disability conductive deafness metaphyseal dysostosis, conductive hearing loss and intellectual disability MONDO:0009599 skeletal dysplasia