Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

Definition

Orphanet

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.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Disproportionate short-limb short stature Short-limbed dwarfism, Micromelic dwarfism, Short-limb dwarfism, Disproportionate short limb dwarfism, Brachymelic dwarfism [more] A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Severe short stature Proportionate dwarfism, Dwarfism A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Metaphyseal dysplasia The presence of dysplastic regions in metaphyseal regions.
Limb undergrowth limb shortening, Hypoplasia involving bones of the extremities, Short limb [more] Limb shortening because of underdevelopment of one or more bones of the extremities.
Otitis media Middle ear infection Inflammation or infection of the middle ear.
Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound.
Hypermetropia Farsightedness, Hyperopia, Long-sightedness [more] An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Strabismus Squint, Heterotropia, Cross-eyed, Squint eyes [more] Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other.
Metaphyseal dysostosis Abnormal mineralization of the metaphyseal area of bones.
Conductive hearing impairment Conduction deafness, Conductive deafness, Conductive hearing loss [more] An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

Other Classifiers and IDs