Chondrodysplasia punctata
Chondrodysplasia punctata | |
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Specialty |
Medical genetics |
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.[1]:500[2]:549
Types include:
- Rhizomelic chondrodysplasia punctata 215100, 222765, 600121
- X-linked recessive chondrodysplasia punctata 302950
- Conradi-Hünermann syndrome 302960
- Autosomal dominant chondrodysplasia punctata 118650
See also
References
External links
Classification |
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