Spondyloepiphyseal dysplasia tarda, Kohn type

Definition

Orphanet

Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.

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Symptoms

Medical Term Other Names Description
Spondyloepiphyseal dysplasia Spondyloepiphyseal dysplasia tarda A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses).
Severe short stature Proportionate dwarfism, Dwarfism A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Disproportionate short-trunk short stature Short-trunked dwarfism, Disproportionate short-trunked dwarfism, Disproportionate short-trunked short stature [more] A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.

Other Classifiers and IDs