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Mesomelic dysplasia, Kantaputra type

ORPHA:1836· ICD-10 Q78.8

Definition

Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Neonatal