Search
Descriptor English: Pycnodysostosis
Descriptor Spanish: Picnodisostosis
Descriptor Portuguese: Picnodisostose
Descriptor French: Pycnodysostose
Entry term(s): Pycnodysostoses
Pyknodysostoses
Pyknodysostosis
Tree number(s): C05.116.099.708.779
C16.320.565.595.800
C16.320.812
C18.452.648.595.800
RDF Unique Identifier: https://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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Dysostoses (1966-2010)
Public MeSH Note: 2011
History Note: 2011
DeCS ID: 53947
Unique ID: D058631
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2011/01/01
Date of Entry: 2010/06/25
Revision Date: 2012/07/03
Pycnodysostosis - Preferred
Concept UI M0530711
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.
Preferred term Pycnodysostosis
Entry term(s) Pycnodysostoses
Pyknodysostoses
Pyknodysostosis



We want your feedback on the new DeCS / MeSH website

We invite you to complete a survey that will take no more than 3 minutes.


Go to survey