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PYCNODYSOSTOSIS
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DeCS
Descriptor
English
:
Pycnodysostosis
Descriptor
Spanish
:
Picnodisostosis
Descriptor
Portuguese
:
Picnodisostose
Synonyms
English
:
Pycnodysostoses
Pyknodysostoses
Pyknodysostosis
Tree Number:
C05.116.099.708.779
C16.320.565.595.800
C16.320.812
C18.452.648.595.800
Definition
English
:
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.
History Note
English
:
2011
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology
Record Number:
53947
Unique Identifier:
D058631
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS