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LOEYS-DIETZ SYNDROME
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DeCS
Descriptor
English
:
Loeys-Dietz Syndrome
Descriptor
Spanish
:
Síndrome de Loeys-Dietz
Descriptor
Portuguese
:
Síndrome de Loeys-Dietz
Synonyms
English
:
Loeys Dietz Aortic Aneurysm Syndrome
Loeys Dietz Syndrome
Loeys Dietz Syndrome, Type 1a
Loeys-Dietz Aortic Aneurysm Syndrome
Loeys-Dietz Syndrome, Type 1a
Syndrome, Loeys-Dietz
Tree Number:
C05.660.207.532
C14.907.055.050.362
C14.907.055.239.587
C14.907.109.139.587
C16.131.077.537
C16.320.510
Definition
English
:
An autosomal dominant
aneurysm
with multisystem abnormalities caused by increased TGF-BETA signaling due to
mutations
in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include
CLEFT PALATE
; CRANIOSYNOSTOSIS;
HYPERTELORISM
; or bifid uvula.
Phenotypes
closely resemble
MARFAN SYNDROME
; Marfanoid craniosynostosis
syndrome
(Shprintzen-Goldberg
syndrome
); and
EHLERS-DANLOS SYNDROME.
See Related
English
:
Ehlers-Danlos Syndrome
Marfan Syndrome
History Note
English
:
2010
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:
53497
Unique Identifier:
D055947
Occurrence in VHL
:
Similar:
DeCS