Weismann-netter-stuhl Syndrome

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Other Names :  

Weismann-Netter syndrome, Tibioperoneal diaphyseal toxopachyosteosis. Toxopachyosteose, Toxopachyosteose diaphysaire Tibio-Peroniere, Weismann Netter Stuhl type of Skeletal dysplasia

What is Weismann-netter-stuhl Syndrome ?  

A rare disorder in which there is an anterior bowing and posterior cortical thickening of the diaphyses of both tibiae and fibulae. It is often bilateral and symmetric in nature. The presence of tibialization of the fibulae, the fibula bone acting as tibia, is highly specific to the disorder.

Cause(s) :  
  • Inherited as an autosomal dominant trait
Symptoms :  
  • Short stature (dwarfism) with bowing of the front of long portions of tibia bone and smaller bone of the leg below the knee
  • Bowing of the sides of the thigh bones or outward curvature of the tibia
Other bones may be affected, such as:
  • Bowing of bones in the forearms - radius and ulna
  • Partial malformation of hip bone (ilium)
  • Sideways curvature of spine (scoliosis) or front-to-back curvature (kyphosis)
Mental retardation seen in 20% cases.

Diagnosis and Tests :  
  • X-rays
  • Genetic testing
Specialist to consult :  Orthopedics

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