What is thanatophoric dysplasia?
Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs.
Thanatophoric dysplasia (TD) is divided into two types, depending primarily upon whether the bone in the upper leg (the femur) is curved or straight. Babies with a curved short femur have type I thanatophoric dysplasia (TD1).
Thanatophoric dysplasia ... respiratory failure
Thanatophoric dysplasia, type 1 ... respiratory failure
Thanatophoric dysplasia, type 2 ... respiratory failure
Thatched Roof disease ... respiratory failure
The Methylmalonic Acidemias ...
developement of cartilage, tubular bones and spine: Achondrogenesis/Hypochondrogenesis - Thanatophoric dysplasia - Short rib-polydactyly syndrome - Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome), ...
Thanatophoric dysplasia is due to a lethal mutation (change) in the same gene that produces achondroplasia, a familiar and far more common form of short-limbed dwarfism that is compatible with life.
 See also: Dysplasia, Dwarfism, Type 2 diabetes, Death, Type 1 diabetes
  
|
RSS
