Orphanet: Metaphyseal dysostosis intellectual disability conductive deafness syndrome

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Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

Disease definition

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised 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.

ORPHA:2502

Classification level: Disorder

Synonym(s):
- Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Neonatal, Infancy
ICD-10: Q78.5
OMIM: 250420
UMLS: C1855175
MeSH: -
GARD: 3566
MedDRA: -

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Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

ORPHA:2502

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