Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is a very rare genetic disorder which is characterized by dysplasia of the metaphyses, short-limbed dwarfism, mild intellectual disabilities, and conductive hearing loss-associated otitis media.[1][2] It has been described in 3 siblings born to consanguineous parents from Sicily, Italy.[3]
References
edit- ^ "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 12 June 2022.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Metaphyseal dysostosis intellectual disability conductive deafness syndrome". www.orpha.net. Retrieved 2022-06-12.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "OMIM Entry - 250420 - METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS". www.omim.org. Retrieved 2022-06-12.