Chondrodysplasia punctata (CDP) is a collective name for a heterogenous group of skeletal dysplasias. Calcific stippling of cartilage and peri-articular soft tissues is often a common feature.
It can be broadly divided into rhizomelic and non-rhizomelic forms:
- rhizomelic chondrodysplasia punctata (RCDP)
- X-linked dominant chondrodysplasia punctata (CDPX2)
- non-rhizomelic chondrodysplasia punctata (NCRDP)
- brachytelephalangic chondrodysplasia punctata (CDPX1)
- Conradi-Hünermann syndrome
CDP can have various inheritance patterns depending on different types ranging from autosomal dominant to autosomal recessive to X-linked dominant to X-linked recessive.
While they carry the common hallmark of epiphyseal calcific deposits the exact set of radiographic features will vary between different subtypes.
Treatment and prognosis
While prognosis is variable, the rhizomelic forms can be lethal .
Stippled epiphyses can also be seen in:
- lethal skeletal dysplasias
- Fetales Warfarinsyndrom
- Chondrodyplasia punctata, rhizomeler Typ
- Conradi–Hünermann syndrome
- Chondrodysplasia punctata durch X-chromosomale Deletion
- Chondrodysplasia punctata, nicht-rhizomeler Typ
- Chondrodysplasia punctata Typ Sheffield
- Chondrodysplasia punctata, tibial-metakarpaler Typ
- Chondrodysplasia punctata Typ Toriello