Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome

Short description: Genetic disorder

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

0.00

(0 votes)

Original source: https://en.wikipedia.org/wiki/Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome. Read more

[NIH-1] "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/3566/metaphyseal-dysostosis-intellectual-disability-conductive-deafness-syndrome.

[2] RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Metaphyseal dysostosis intellectual disability conductive deafness syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502.

[3] "OMIM Entry - 250420 - METAPHYSEAL DYSOSTOSIS, MENTAL RETARDATION, AND CONDUCTIVE DEAFNESS". https://www.omim.org/entry/250420.

[1]

[2]

[3]