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Chondrodysplasia Punctata, Rhizomelic MeSH Descriptor Data 2022


MeSH Heading
Chondrodysplasia Punctata, Rhizomelic
Tree Number(s)
C05.116.099.708.195.200
C16.320.565.663.265
C18.452.648.663.265
Unique ID
D018902
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D018902
Annotation
a form of osteochondrodysplasia with stippled epiphyses; do not use /‌congen & do not coord with INFANT, NEWBORN, DISEASES
Scope Note
An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
Entry Term(s)
Chondrodysplasia Punctata, Rhizomelic Form
Rhizomelic Chondrodysplasia Punctata
Previous Indexing
Chondrodysplasia Punctata (1971-1995)
Public MeSH Note
1996
History Note
1996
Date Established
1996/01/01
Date of Entry
1994/12/27
Revision Date
2015/06/08
Chondrodysplasia Punctata, Rhizomelic Preferred
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