- Chondrodysplasia punctata
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Chondrodysplasia punctata Classification and external resources ICD-10 Q77.3 DiseasesDB 32527 31410 34567 MeSH D002806 Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Conradi, 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
References
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
Osteochondrodysplasia (Q77–Q78, 756.4–756.5) Osteodysplasia/
osteodystrophyOther/ungroupedFLNB (Boomerang dysplasia) · Opsismodysplasia · Polyostotic fibrous dysplasia (McCune-Albright syndrome)Chondrodysplasia/
chondrodystrophy
(including dwarfism)Chondrodysplasia punctataOther dwarfismFibrochondrogenesis · Short rib-polydactyly syndrome (Majewski's polydactyly syndrome) · Léri-Weill dyschondrosteosisThis Genodermatoses article is a stub. You can help Wikipedia by expanding it.