Odonto-chondrodysplasia

Odonto chondrodysplasia is a very rare congenital skeletal dysplasia. Main features are chondrodysplasia, dentinogenesis imperfecta, platyspondylia with corneal clefts, and joint flaccidity.

The intellectual faculties are normal, the key symptom is dentinogenesis imperfecta, which distinguishes Odonto chondrodysplasia from other chondrodysplasias.

Autosomal recessive inheritance is assumed; the etiology is unknown. Depending on the degree of severity, the disease can lead to death in the first few years of life, especially through respiratory disorders.