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Chondrodysplasia Punctata MeSH Descriptor Data 2023


MeSH Heading
Chondrodysplasia Punctata
Tree Number(s)
C05.116.099.708.195
Unique ID
D002806
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D002806
Annotation
spell entry term name Hunermann with an umlaut in titles & translations; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC is also available
Scope Note
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.
Entry Term(s)
Chondrodysplasia Punctata 2, X-Linked
Chondrodysplasia Punctata 2, X-Linked Dominant
Chondrodystrophia Calcificans Congenita
Conradi Hunermann Happle Syndrome
Conradi-Hunermann Syndrome
Conradi-Hunermann-Happle Syndrome
Conradi-Hünermann 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
Public MeSH Note
1985; see CHONDRODYSTROPHIA CALCIFICANS CONGENITA 1967-1984
History Note
1985(1964)
Date Established
1967/01/01
Date of Entry
1999/01/01
Revision Date
2016/01/20
Chondrodysplasia Punctata Preferred
Hunermann-Conradi Syndrome Related
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