Rubinstein-Taybi Syndrome [Rubinsteinův-Taybiho syndrom]

topical
12
Terms

otopalatodigitální syndrom
Rubinstein-Taybi syndrom
Rubinsteinův-Taybiův syndrom
syndrom širokých palců

 

Broad Thumb-Hallux Syndrome
Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation
Rubinstein Syndrome

Persistent link   https://www.medvik.cz/link/D012415
Definition

A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).

DUI
D012415 MeSH Browser
CUI
M0019298
Previous indexing
Abnormalities, Multiple (1968-1971); Mental Retardation (1966-1971)
History note
91(72); was see under ABNORMALITIES, MULTIPLE 1972-90
Public note
91; was see under ABNORMALITIES, MULTIPLE 1972-90

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications 1
DI
diagnosis 6
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology 3
GE
genetics 8
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology 2
PP
physiopathology
PC
prevention & control 1
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 1
UR
urine
VE
veterinary
VI
virology

C Diseases
C05 Musculoskeletal Diseases 1 123
C05.116 Bone Diseases 796
C05.116.099 Bone Diseases, Developmental 292
C05.116.099.370 Dysostoses 22
C05.116.099.370.231 Craniofacial Dysostosis 28
C05.116.099.370.380 Focal Dermal Hypoplasia 6
C05.116.099.370.535 Klippel-Feil Syndrome 6
C05.116.099.370.652 Orofaciodigital Syndromes 7
C05.116.099.370.797 Rubinstein-Taybi Syndrome 12
C05.116.099.370.894 Synostosis 30
C05.660 Musculoskeletal Abnormalities 107
C05.660.207 Craniofacial Abnormalities 80
C05.660.207.103 22q11 Deletion Syndrome 2
C05.660.207.207 Cleidocranial Dysplasia 7
C05.660.207.219 Costello Syndrome 3
C05.660.207.231 Craniofacial Dysostosis 28
C05.660.207.240 Craniosynostoses 55
C05.660.207.325 Donohue Syndrome 1
C05.660.207.410 Holoprosencephaly 8
C05.660.207.525 LEOPARD Syndrome 11
C05.660.207.532 Loeys-Dietz Syndrome 7
C05.660.207.536 Megalencephaly 7
C05.660.207.540 Maxillofacial Abnormalities 28
C05.660.207.620 Microcephaly 78
C05.660.207.690 Noonan Syndrome 52
C05.660.207.700 Orofaciodigital Syndromes 7
C05.660.207.707 Plagiocephaly 3
C05.660.207.720 Platybasia 12
C05.660.207.850 Rubinstein-Taybi Syndrome 12
C05.660.207.925 Silver-Russell Syndrome 3
C10 Nervous System Diseases 1 879
C10.597 Neurologic Manifestations 1 053
C10.597.606 Neurobehavioral Manifestations 208
C10.597.606.360 Intellectual Disability 1 047
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 18
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 22
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 749
C16.131.077 Abnormalities, Multiple 330
C16.131.077.019 22q11 Deletion Syndrome 2
C16.131.077.065 Alagille Syndrome 19
C16.131.077.095 Angelman Syndrome 35
C16.131.077.121 Barth Syndrome 6
C16.131.077.130 Basal Cell Nevus Syndrome 33
C16.131.077.133 Beckwith-Wiedemann Syndrome 17
C16.131.077.137 Bloom Syndrome 11
C16.131.077.208 Branchio-Oto-Renal Syndrome 5
C16.131.077.229 Carney Complex 8
C16.131.077.245 Ciliopathies 9
C16.131.077.250 Cockayne Syndrome 4
C16.131.077.256 Costello Syndrome 3
C16.131.077.262 Cri-du-Chat Syndrome 11
C16.131.077.272 De Lange Syndrome 4
C16.131.077.299 Deaf-Blind Disorders 65
C16.131.077.313 Donohue Syndrome 1
C16.131.077.327 Down Syndrome 510
C16.131.077.350 Ectodermal Dysplasia 33
C16.131.077.371 Fraser Syndrome 2
C16.131.077.393 Gardner Syndrome 21
C16.131.077.401 Heterotaxy Syndrome 7
C16.131.077.410 Holoprosencephaly 8
C16.131.077.445 Incontinentia Pigmenti 19
C16.131.077.477 Isolated Noncompaction of the Ventricular Myocardium 11
C16.131.077.509 Laurence-Moon Syndrome 6
C16.131.077.525 LEOPARD Syndrome 11
C16.131.077.537 Loeys-Dietz Syndrome 7
C16.131.077.550 Marfan Syndrome 105
C16.131.077.578 Mobius Syndrome 10
C16.131.077.592 Monilethrix 1
C16.131.077.606 Nail-Patella Syndrome 8
C16.131.077.619 Netherton Syndrome 2
C16.131.077.633 Nevus, Sebaceous of Jadassohn 7
C16.131.077.662 Oculocerebrorenal Syndrome 9
C16.131.077.676 Orofaciodigital Syndromes 7
C16.131.077.690 Pallister-Hall Syndrome
C16.131.077.696 Pentalogy of Cantrell 1
C16.131.077.703 POEMS Syndrome 35
C16.131.077.717 Polycystic Kidney Diseases 83
C16.131.077.730 Prader-Willi Syndrome 92
C16.131.077.735 Prolidase Deficiency
C16.131.077.740 Proteus Syndrome 8
C16.131.077.745 Prune Belly Syndrome 3
C16.131.077.790 Rubella Syndrome, Congenital 20
C16.131.077.804 Rubinstein-Taybi Syndrome 12
C16.131.077.850 Short Rib-Polydactyly Syndrome 3
C16.131.077.855 Silver-Russell Syndrome 3
C16.131.077.860 Smith-Lemli-Opitz Syndrome 30
C16.131.077.879 Smith-Magenis Syndrome 2
C16.131.077.889 Sotos Syndrome 4
C16.131.077.899 Trichothiodystrophy Syndromes 1
C16.131.077.919 Trisomy 13 Syndrome 6
C16.131.077.929 Trisomy 18 Syndrome 5
C16.131.077.938 Waardenburg Syndrome 10
C16.131.077.941 Weill-Marchesani Syndrome 1
C16.131.077.944 Wolf-Hirschhorn Syndrome
C16.131.077.970 Zellweger Syndrome 10
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 22
C16.131.260.985 Wolf-Hirschhorn Syndrome
C16.131.621 Musculoskeletal Abnormalities 107
C16.131.621.207 Craniofacial Abnormalities 80
C16.131.621.207.103 22q11 Deletion Syndrome 2
C16.131.621.207.207 Cleidocranial Dysplasia 7
C16.131.621.207.231 Craniofacial Dysostosis 28
C16.131.621.207.240 Craniosynostoses 55
C16.131.621.207.410 Holoprosencephaly 8
C16.131.621.207.525 LEOPARD Syndrome 11
C16.131.621.207.532 Megalencephaly 7
C16.131.621.207.540 Maxillofacial Abnormalities 28
C16.131.621.207.620 Microcephaly 78
C16.131.621.207.690 Noonan Syndrome 52
C16.131.621.207.700 Orofaciodigital Syndromes 7
C16.131.621.207.707 Plagiocephaly 3
C16.131.621.207.720 Platybasia 12
C16.131.621.207.850 Rubinstein-Taybi Syndrome 12
C16.320 Genetic Diseases, Inborn 1 214
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 22
C16.320.180.985 Wolf-Hirschhorn Syndrome

Chromosome 16p13.3 Deletion Syndrome Disease MeSH Browser

Rubinstein Taybi like syndrome Disease MeSH Browser

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