Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

What it is

A rare multiple metaphyseal dysplasia syndrome characterized by metaphyseal dysplasia, short-limb dwarfism (more pronounced in the lower limbs), mild intellectual deficiency and conductive hearing loss that is associated with repeated episodes of otitis media in childhood. Patients usually present with short and cupped ribs, short and broad hands and finger joint laxity. Hyperopia, strabismus, anterior polar cataract, scoliosis, lumbar lordosis and brachydactyly may also be present. There have been no further descriptions in the literature since 1971.

Key facts

Prevalence

<1 / 1 000 000

Age of onset

Infancy, Neonatal

Inheritance

Autosomal recessive

Classified as

Malformation syndrome

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

ICD-10 codes

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references