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Langer mesomelic dysplasia

ORPHA:2632· ICD-10 Q87.1

Definition

A rare, genetic skeletal dysplasia characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Antenatal