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CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME
Descriptors Found:
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DeCS
Descriptor
English
:
Fraser Syndrome
Descriptor
Spanish
:
síndrome de Fraser
Descriptor
Portuguese
:
Síndrome de Fraser
Synonyms
English
:
Cryptophthalmos Syndactyly Syndrome
Cryptophthalmos with Other Malformations
Cryptophthalmos-Syndactyly Syndrome
Cryptophthalmos-Syndactyly Syndromes
Syndrome, Fraser
Tree Number:
C05.116.099.370.894.819.428
C05.660.585.800.428
C05.660.906.819.428
C11.250.390
C12.706.410
C13.351.875.397
C16.131.077.371
C16.131.384.442
C16.131.621.585.800.428
C16.131.621.906.819.428
C16.131.939.410
Definition
English
:
Rare autosomal recessive congenital malformation
syndrome
characterized by cryptophthalmos,
SYNDACTYLY
and
UROGENITAL ABNORMALITIES
. Other anomalies of bone, ear, lung, and nose are common.
Mutations
on FRAS1 and FREM2 are associated with the
syndrome.
Indexing Annotation
English
:
do not confuse with
FRASIER SYNDROME
See Related
English
:
Frasier Syndrome
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:
53969
Unique Identifier:
D058497
Occurrence in VHL
:
Similar:
DeCS