Chondrodysplasia punctata

Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Erich Conradi (1882–1968), that share the features of stippled epiphyses and skeletal changes.

Types

• Rhizomelic chondrodysplasia punctata , ,
• X-linked recessive chondrodysplasia punctata
• Conradi–Hünermann syndrome (chondrodysplasia punctata 2, x-linked dominant)
• Autosomal dominant chondrodysplasia punctata

See also

• List of cutaneous conditions
• List of radiographic findings associated with cutaneous conditions

References

External links