Osteochondrodysplasias (osteochondrodysplastic dwarfism)

[Merna]

Osteochondrodysplasias involve abnormal bone or cartilage growth, leading to skeletal maldevelopment, often short-limbed dwarfism. Diagnosis is by physical examination, x-rays, and, in some cases, genetic testing. Treatment is surgical.
The basic genetic defects have been identified in most of the osteochondrodysplasias. The mutations typically cause perturbation of function in proteins involved in growth and development of connective tissue, bone, or cartilage (see Table: Types of Osteochondrodysplastic Dwarfism).
Dwarfism is markedly short stature (adult height lt; 4 ft 10 in) frequently associated with disproportionate growth of the trunk and extremities. Achondroplasia is the most common and best-known type of short-limbed dwarfism, but there are many other distinct types, which differ widely in genetic background, course, and prognosis (see Table: Types of Osteochondrodysplastic Dwarfism). Lethal short-limbed dwarfism (thanatophoric dysplasia, caused by mutations in the same gene as achondroplasia) causes severe chest wall deformities and respiratory failure in neonates, resulting in death.