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ANTLEY-BIXLER SYNDROME PHENOTYPE
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DeCS
Descriptor
English
:
Antley-Bixler Syndrome Phenotype
Descriptor
Spanish
:
Fenotipo del Síndrome de Antley-Bixler
Descriptor
Portuguese
:
Fenótipo de Síndrome de Antley-Bixler
Synonyms
English
:
Antley-Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome, Autosomal Dominant
Tree Number:
C05.116.099.370.894.115
C05.660.906.181
C16.131.621.906.181
C16.320.565.925.324
C18.452.648.925.324
Definition
English
:
An inherited condition characterized by multiple malformations of
CARTILAGE
and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral
SYNOSTOSIS
;
CHOANAL ATRESIA
; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to
FLUCONAZOLE
, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (
NADPH-FERRIHEMOPROTEIN REDUCTASE
)) and FGFR2 (encoding
FIBROBLAST GROWTH FACTOR RECEPTOR 2
).
See Related
English
:
NADPH-Ferrihemoprotein Reductase
Receptor, Fibroblast Growth Factor, Type 2
History Note
English
:
2009
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
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
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
53063
Unique Identifier:
D054882
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS