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Pycnodysostosis MeSH Descriptor Data 2023


MeSH Heading
Pycnodysostosis
Tree Number(s)
C05.116.099.708.779
C16.320.565.595.800
C16.320.812
C18.452.648.595.800
Unique ID
D058631
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D058631
Scope Note
Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.
Entry Term(s)
Pyknodysostosis
Previous Indexing
Dysostoses (1966-2010)
Public MeSH Note
2011
History Note
2011
Date Established
2011/01/01
Date of Entry
2010/06/25
Revision Date
2012/07/03
Pycnodysostosis Preferred
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