Chondrodystrophy

Chondrodystrophia (chondrodystrophia; chondro- + dystrophy; synonym: diaphyseal aplasia, achondroplasia, fetal achondroplasia, parro-Marie disease, congenital chondrodystrophy, hypoplastic chondrodystrophy) is a genetically determined skeletal disease, characterized by shortening of tubular bones due to impaired ossification of cartilaginous models.

With chondrodystrophy, there is a delay in the growth of long bones in length. At the same time, short legs and skeletal deformities develop. The disease can be combined with mental retardation.

There are several forms of chondrodystrophy:

1. Achondroplasia is the most common type and is inherited in an autosomal dominant manner.

2. Hypochondroplasia is a milder form with an autosomal dominant mode of inheritance.

3. Spondyloepiphyseal dysplasia is an autosomal dominant disease that primarily affects the vertebrae and epiphyses of long bones.

To treat chondrodystrophy, hormonal drugs and surgical correction of limb deformities are used. The prognosis depends on the form and severity of the disease. With timely diagnosis and treatment, many patients can lead a full life.

Chondrodystrophy is a group of hereditary skeletal diseases characterized by a defect in the development of cartilage tissue of long tubular bones, especially in their diaphysis and/or metaphysis, which leads to mesenchymal imbalance with disruption of mechanical and metabolic processes in different parts of the limb and simultaneous activation of chondroclasts for the purpose of “normalization” metabolism of these areas throughout life - “self-destruction”. Unlike other types of aplasia, it is characterized by disorders of not only skeletal but also connective tissue and, in severe cases, the presence of malformations of other organ systems.