Dyschondrosteosis nephritis
Alternate names[edit | edit source]
Mesomelic shortening and hereditary nephritis
Definition[edit | edit source]
Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis.
Epidemiology[edit | edit source]
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[edit | edit source]
The mode of transmission was reported as autosomal dominant.
Signs and symptoms[edit | edit source]
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)
Diagnosis[edit | edit source]
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
Dyschondrosteosis nephritis is a rare disease.
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