X-linked chondrodysplasia punctata 1

Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata. It is a type of primary bone dysplasia that affects how the bones, especially in the fingers and nose, develop. This condition is marked by underdeveloped distal phalanges (the far end bones of the fingers), a smaller nasal structure, and small stippled spots in the growing ends of bones (epiphyseal stippling) during the first year of life. People with this condition may also have mild shortness in some of the long bones. The features and severity can vary, and the condition is usually identified early in life based on these unique bone development patterns.

The symptoms of this condition include underdeveloped distal finger bones (phalanges), a smaller than usual nose (nasal hypoplasia), and the appearance of small, speckled spots in the growing parts of the bones (epiphyseal stippling) during infancy. There is also mild shortness of the long bones which does not affect the entire length of the limbs (nonrhizomelic pattern).

Brachytelephalangic chondrodysplasia punctata is caused by genetic changes. The condition is linked to changes in genes such as ARSL. This means that alterations in this gene, which is important for normal bone development, can lead to the features seen with this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.