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.
[Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. .][James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. .]
Types
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Rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by abnormally short arms and legs (''rhizomelia''), seizures, recurrent respiratory tract infections and congenital cataracts.
The cause is a genetic mutat ...
, ,
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X-linked recessive chondrodysplasia punctata
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Conradi–Hünermann syndrome (chondrodysplasia punctata 2, x-linked dominant)
* Autosomal dominant chondrodysplasia punctata
See also
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List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the Human body, body and composed of Human skin, skin, hair, Nail (anatomy), nails, and related muscle and glands. The major function o ...
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References
External links
Genodermatoses
{{Cutaneous-condition-stub