Chondrodysplasia Punctata
"Chondrodysplasia Punctata" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D002806
|
| MeSH Number(s) |
C05.116.099.708.195
|
| Concept/Terms |
Chondrodysplasia Punctata- Chondrodysplasia Punctata
- Stippled Epiphyses
- Epiphyses, Stippled
- Chondrodystrophia Calcificans Congenita
- Dysplasia Epiphysialis Punctata
Hunermann-Conradi Syndrome- Hunermann-Conradi Syndrome
- Hunermann Conradi Syndrome
- Syndrome, Hunermann-Conradi
- Happle Syndrome
- Syndrome, Happle
- Conradi-Hunermann Syndrome
- Conradi Hunermann Syndrome
- Syndrome, Conradi-Hunermann
- Conradi-Hunermann-Happle Syndrome
- Conradi Hunermann Happle Syndrome
|
Below are MeSH descriptors whose meaning is more general than "Chondrodysplasia Punctata".
Below are MeSH descriptors whose meaning is more specific than "Chondrodysplasia Punctata".
This graph shows the total number of publications written about "Chondrodysplasia Punctata" by people in UAMS Profiles by year, and whether "Chondrodysplasia Punctata" was a major or minor topic of these publications.
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Below are the most recent publications written about "Chondrodysplasia Punctata" by people in Profiles over the past ten years.