Medicine:Chondrodysplasia punctata

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 Online Mendelian Inheritance in Man (OMIM) 215100, Online Mendelian Inheritance in Man (OMIM) 222765, Online Mendelian Inheritance in Man (OMIM) 600121
• X-linked recessive chondrodysplasia punctata Online Mendelian Inheritance in Man (OMIM) 302950
• Conradi–Hünermann syndrome (chondrodysplasia punctata 2, x-linked dominant) Online Mendelian Inheritance in Man (OMIM) 302960
• Autosomal dominant chondrodysplasia punctata Online Mendelian Inheritance in Man (OMIM) 118650

See also

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

External links

Classification	D ICD-10: Q77.3 MeSH: D002806 DiseasesDB: 32527