" /> Langer Mesomelic Dysplasia - CISMeF





Preferred Label : Langer Mesomelic Dysplasia;

NCIt related terms : Langer Syndrome; Langer Type Mesomelic Dysplasia;

NCIt definition : An autosomal recessive condition caused by mutation (s) in the SHOX gene, encoding short stature homeobox protein. The condition is characterized by shortening of the bones of the middle segments of the limbs.;

Alternative definition : NICHD: SHOX deficiency due to homozygous mutation(s) in the SHOX gene. This condition is characterized by severe hypoplasia of the radius/ulna and tibia/fibula resulting in extreme short stature.;

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31/07/2025


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