Fraser Syndrome [Fraserův syndrom]

topical
2
Terms

kryptooftalmický syndaktylický syndrom

 

Cryptophthalmos with Other Malformations
Cryptophthalmos-Syndactyly Syndrome

Persistent link   https://www.medvik.cz/link/D058497
Definition

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.

Annotation
do not confuse with FRASIER SYNDROME
nepleť s deskriptorem SYNDROM FRASIER
DUI
D058497 MeSH Browser
CUI
M0542891
History note
2011
Public note
2011

Allowable subheadings

BL
blood 0
CF
cerebrospinal fluid 0
CI
chemically induced 0
CL
classification 0
CO
complications 2
DI
diagnosis 2
DG
diagnostic imaging 0
DH
diet therapy 0
DT
drug therapy 0
EC
economics 0
EM
embryology 0
EN
enzymology 0
EP
epidemiology 0
EH
ethnology 0
ET
etiology 0
GE
genetics 0
HI
history 0
IM
immunology 0
ME
metabolism 0
MI
microbiology 0
MO
mortality 0
NU
nursing 0
PS
parasitology 0
PA
pathology 0
PP
physiopathology 2
PC
prevention & control 0
PX
psychology 0
RT
radiotherapy 0
RH
rehabilitation 0
SU
surgery 2
TH
therapy 0
UR
urine 0
VE
veterinary 0
VI
virology 0

C Diseases
C05 Musculoskeletal Diseases 1 119
C05.116 Bone Diseases 792
C05.116.099 Bone Diseases, Developmental 291
C05.116.099.370 Dysostoses 22
C05.116.099.370.894 Synostosis 29
C05.116.099.370.894.819 Syndactyly 24
C05.116.099.370.894.819.100 Acrocephalosyndactylia 10
C05.116.099.370.894.819.428 Fraser Syndrome 2
C05.116.099.370.894.819.756 Poland Syndrome 11
C05.660 Musculoskeletal Abnormalities 107
C05.660.585 Limb Deformities, Congenital 125
C05.660.585.800 Syndactyly 24
C05.660.585.800.100 Acrocephalosyndactylia 10
C05.660.585.800.428 Fraser Syndrome 2
C05.660.585.800.756 Poland Syndrome 11
C05.660.906 Synostosis 29
C05.660.906.819 Syndactyly 24
C05.660.906.819.100 Acrocephalosyndactylia 10
C05.660.906.819.428 Fraser Syndrome 2
C05.660.906.819.756 Poland Syndrome 11
C11 Eye Diseases 1 485
C11.250 Eye Abnormalities 107
C11.250.060 Aniridia 18
C11.250.080 Anophthalmos 16
C11.250.090 Blepharophimosis 5
C11.250.105 Choroidal Effusions
C11.250.110 Coloboma 14
C11.250.300 Ectopia Lentis 3
C11.250.345 Familial Exudative Vitreoretinopathies
C11.250.390 Fraser Syndrome 2
C11.250.480 Hydrophthalmos 9
C11.250.566 Microphthalmos 17
C11.250.616 Persistent Hyperplastic Primary Vitreous 7
C11.250.666 Retinal Dysplasia 4
C12 Urogenital Diseases 6
C12.050 Female Urogenital Diseases and Pregnancy Complications 132
C12.050.351 Female Urogenital Diseases 153
C12.050.351.875 Urogenital Abnormalities 145
C12.050.351.875.132 Bladder Exstrophy 49
C12.050.351.875.253 Disorders of Sex Development 231
C12.050.351.875.374 Epispadias 13
C12.050.351.875.397 Fraser Syndrome 2
C12.050.351.875.420 Fused Kidney 7
C12.050.351.875.466 Hypospadias 142
C12.050.351.875.558 Multicystic Dysplastic Kidney 15
C12.050.351.875.742 Nephritis, Hereditary 60
C12.050.351.875.811 Retrocaval Ureter 2
C12.050.351.875.846 Solitary Kidney 10
C12.050.351.875.881 Urinary Fistula 46
C12.050.351.875.940 Uterine Duplication Anomalies
C12.200 Male Urogenital Diseases 200
C12.200.706 Urogenital Abnormalities 145
C12.200.706.132 Bladder Exstrophy 49
C12.200.706.258 Cryptorchidism 142
C12.200.706.316 Disorders of Sex Development 231
C12.200.706.374 Epispadias 13
C12.200.706.410 Fraser Syndrome 2
C12.200.706.445 Fused Kidney 7
C12.200.706.516 Hypospadias 142
C12.200.706.629 Multicystic Dysplastic Kidney 15
C12.200.706.742 Nephritis, Hereditary 60
C12.200.706.811 Retrocaval Ureter 2
C12.200.706.846 Solitary Kidney 10
C12.200.706.881 Urinary Fistula 46
C12.200.706.940 Uterine Duplication Anomalies
C12.800 Urogenital Abnormalities 145
C12.800.132 Bladder Exstrophy 49
C12.800.258 Cryptorchidism 142
C12.800.316 Disorders of Sex Development 231
C12.800.374 Epispadias 13
C12.800.410 Fraser Syndrome 2
C12.800.445 Fused Kidney 7
C12.800.516 Hypospadias 142
C12.800.629 Multicystic Dysplastic Kidney 15
C12.800.742 Nephritis, Hereditary 60
C12.800.811 Retrocaval Ureter 2
C12.800.846 Solitary Kidney 10
C12.800.881 Urinary Fistula 46
C12.800.940 Uterine Duplication Anomalies
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 740
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 32
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 20
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 34
C16.131.077.717 Polycystic Kidney Diseases 82
C16.131.077.730 Prader-Willi Syndrome 91
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
C16.131.384 Eye Abnormalities 107
C16.131.384.079 Aniridia 18
C16.131.384.159 Anophthalmos 16
C16.131.384.190 Blepharophimosis 5
C16.131.384.282 Coloboma 14
C16.131.384.405 Ectopia Lentis 3
C16.131.384.424 Familial Exudative Vitreoretinopathies
C16.131.384.442 Fraser Syndrome 2
C16.131.384.480 Hydrophthalmos 9
C16.131.384.666 Microphthalmos 17
C16.131.384.725 Persistent Hyperplastic Primary Vitreous 7
C16.131.384.784 Retinal Dysplasia 4
C16.131.621 Musculoskeletal Abnormalities 107
C16.131.621.585 Limb Deformities, Congenital 125
C16.131.621.585.800 Syndactyly 24
C16.131.621.585.800.100 Acrocephalosyndactylia 10
C16.131.621.585.800.428 Fraser Syndrome 2
C16.131.621.585.800.756 Poland Syndrome 11
C16.131.621.906 Synostosis 29
C16.131.621.906.819 Syndactyly 24
C16.131.621.906.819.100 Acrocephalosyndactylia 10
C16.131.621.906.819.428 Fraser Syndrome 2
C16.131.621.906.819.756 Poland Syndrome 11
C16.131.939 Urogenital Abnormalities 145
C16.131.939.132 Bladder Exstrophy 49
C16.131.939.258 Cryptorchidism 142
C16.131.939.316 Disorders of Sex Development 231
C16.131.939.374 Epispadias 13
C16.131.939.410 Fraser Syndrome 2
C16.131.939.445 Fused Kidney 7
C16.131.939.516 Hypospadias 142
C16.131.939.629 Multicystic Dysplastic Kidney 15
C16.131.939.742 Nephritis, Hereditary 60
C16.131.939.831 Pyelectasis
C16.131.939.915 Retrocaval Ureter 2
C16.131.939.957 Uterine Duplication Anomalies

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