Structured Summary
Abstract
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.
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Classification
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Synonyms
3 entry terms
- Pyknodysostosis
- Pycnodysostoses
- Pyknodysostoses
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
2011
MeSH Record
Previous Indexing
- Dysostoses (1966-2010)
MeSH Hierarchy
Tree Numbers
AMA Style
References
- National Library of Medicine. Pycnodysostosis. Medical Subject Headings (MeSH). 2026. Unique ID D058631. http://id.nlm.nih.gov/mesh/2026/D058631
- Pycnodysostosis. In: Wikipedia. https://en.wikipedia.org/wiki/Pycnodysostosis
- Pycnodysostosis. In: Wikidata. https://www.wikidata.org/wiki/Q974928