Williams Syndrome [Williamsův-Beurenův syndrom]

topical
21
Terms

Williams-Beurenův syndrom
Williamsův syndrom

 

Beuren Syndrome
Chromosome 7q11.23 Deletion Syndrome
Contiguous Gene Syndrome, Williams
Hypercalcemia-Supravalvar Aortic Stenosis
Supravalvar Aortic Stenosis Syndrome
Williams Contiguous Gene Syndrome
Williams-Beuren Syndrome

Persistent link   https://www.medvik.cz/link/D018980
Definition

A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.

Annotation
do not confuse with Williams-Campbell syndrome, a congenital cartilage deficiency
DUI
D018980 MeSH Browser
CUI
M0028351
Previous indexing
Aortic Valve Stenosis (1969-1995)
History note
96
Public note
96

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications 1
DI
diagnosis 11
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology 1
EH
ethnology
ET
etiology 2
GE
genetics 12
HI
history 1
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 4
PP
physiopathology 1
PC
prevention & control
PX
psychology 1
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 2
UR
urine
VE
veterinary
VI
virology

C Diseases
C10 Nervous System Diseases 1 878
C10.597 Neurologic Manifestations 1 052
C10.597.606 Neurobehavioral Manifestations 208
C10.597.606.360 Intellectual Disability 1 045
C10.597.606.360.180 Cri-du-Chat Syndrome 11
C10.597.606.360.210 De Lange Syndrome 4
C10.597.606.360.220 Down Syndrome 510
C10.597.606.360.455 X-Linked Intellectual Disability 17
C10.597.606.360.690 Prader-Willi Syndrome 92
C10.597.606.360.700 Rubinstein-Taybi Syndrome 12
C10.597.606.360.835 Trisomy 13 Syndrome 6
C10.597.606.360.969 WAGR Syndrome 3
C10.597.606.360.970 Williams Syndrome 21
C14 Cardiovascular Diseases 10 507
C14.280 Heart Diseases 2 867
C14.280.484 Heart Valve Diseases 588
C14.280.484.048 Aortic Valve Disease 13
C14.280.484.048.750 Aortic Valve Stenosis 505
C14.280.484.048.750.535 Aortic Stenosis, Supravalvular 13
C14.280.484.048.750.535.960 Williams Syndrome 21
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 741
C16.131.260 Chromosome Disorders 259
C16.131.260.019 22q11 Deletion Syndrome 2
C16.131.260.040 Angelman Syndrome 35
C16.131.260.080 Beckwith-Wiedemann Syndrome 17
C16.131.260.090 Branchio-Oto-Renal Syndrome 5
C16.131.260.190 Cri-du-Chat Syndrome 11
C16.131.260.210 De Lange Syndrome 4
C16.131.260.260 Down Syndrome 510
C16.131.260.380 Holoprosencephaly 8
C16.131.260.440 Jacobsen Distal 11q Deletion Syndrome 1
C16.131.260.700 Prader-Willi Syndrome 92
C16.131.260.790 Rubinstein-Taybi Syndrome 12
C16.131.260.830 Sex Chromosome Disorders 11
C16.131.260.870 Silver-Russell Syndrome 3
C16.131.260.887 Smith-Magenis Syndrome 2
C16.131.260.905 Sotos Syndrome 4
C16.131.260.923 Trisomy 13 Syndrome 6
C16.131.260.932 Trisomy 18 Syndrome 5
C16.131.260.940 WAGR Syndrome 3
C16.131.260.970 Williams Syndrome 21
C16.131.260.985 Wolf-Hirschhorn Syndrome
C16.320 Genetic Diseases, Inborn 1 213
C16.320.180 Chromosome Disorders 259
C16.320.180.019 22q11 Deletion Syndrome 2
C16.320.180.040 Angelman Syndrome 35
C16.320.180.080 Beckwith-Wiedemann Syndrome 17
C16.320.180.090 Branchio-Oto-Renal Syndrome 5
C16.320.180.190 Cri-du-Chat Syndrome 11
C16.320.180.210 De Lange Syndrome 4
C16.320.180.260 Down Syndrome 510
C16.320.180.380 Holoprosencephaly 8
C16.320.180.440 Jacobsen Distal 11q Deletion Syndrome 1
C16.320.180.700 Prader-Willi Syndrome 92
C16.320.180.790 Rubinstein-Taybi Syndrome 12
C16.320.180.830 Sex Chromosome Disorders 11
C16.320.180.870 Silver-Russell Syndrome 3
C16.320.180.887 Smith-Magenis Syndrome 2
C16.320.180.905 Sotos Syndrome 4
C16.320.180.923 Trisomy 13 Syndrome 6
C16.320.180.932 Trisomy 18 Syndrome 5
C16.320.180.940 WAGR Syndrome 3
C16.320.180.970 Williams Syndrome 21
C16.320.180.985 Wolf-Hirschhorn Syndrome

Williams-Beuren Region Duplication Syndrome Disease MeSH Browser

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