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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1765
Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity (see this term), with hereditary nephritis.
It was originally described in male and female members from four generations of one large kindred. The females appeared to be more severely affected than the males, with a sex ratio (female to male) of 4:1.
The skeletal anomalies closely resembled those of Léri-Weill dyschondrosteosis (see this term).
The mode of transmission was reported as autosomal dominant.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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