Chondrodysplasia Punctata [chondrodysplasia punctata]
- Terms
-
chondrodysplasia punctata Conradiho-Hünermannova
Conradi-Hünermannova nemoc
Conradiho nemoc
-
Chondrodysplasia Punctata 2, X-Linked
Chondrodysplasia Punctata 2, X-Linked Dominant
Chondrodystrophia Calcificans Congenita
Conradi Hunermann Happle Syndrome
Conradi-Hunermann Syndrome
Conradi-Hünermann Syndrome
Conradi-Hunermann-Happle Syndrome
Conradi-Hünermann-Happle Syndrome
Dysplasia Epiphysialis Punctata
Epiphyses, Stippled
Happle Syndrome
Hunermann-Conradi Syndrome
Stippled Epiphyses
X-Linked Chondrodysplasia Punctata 2
X-Linked Dominant Chondrodysplasia Punctata
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
- Annotation
- spell entry term name Hunermann with an umlaut in titles & translations; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available
- DUI
- D002806 MeSH Browser
- CUI
- M0004308
- History note
- 1985(1964)
- Public note
- 1985; see CHONDRODYSTROPHIA CALCIFICANS CONGENITA 1967-1984
Allowable subheadings
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