Dyschondrosteosis nephritis

Alternate names

Mesomelic shortening and hereditary nephritis

Definition

Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis.

Epidemiology

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.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

The mode of transmission was reported as autosomal dominant.

Signs and symptoms

The skeletal anomalies closely resembled those of Léri-Weill dyschondrosteosis.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Aplasia/Hypoplasia of the radius
• Intrauterine growth retardation(Prenatal growth deficiency)
• Madelung deformity
• Mesomelic short stature
• Radial bowing(Bowing of outer large bone of the forearm)
• Ulnar bowing(Curving of inner forearm bone)

30%-79% of people have these symptoms

• Hematuria(Blood in urine)
• Microdontia(Decreased width of tooth)
• Micromelia(Smaller or shorter than typical limbs)
• Nephropathy
• Proteinuria(High urine protein levels)

5%-29% of people have these symptoms

• Behavioral abnormality(Behavioral changes)
• Corneal opacity
• Strabismus(Cross-eyed)

NIH genetic and rare disease info

• NIH info on Dyschondrosteosis nephritis

Dyschondrosteosis nephritis is a rare disease.

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