Weill-Marchesani Syndrome [Weillův-Marchesaniho syndrom]

topical
1
Terms

autozomálně dominantní Weillův-Marchesaniho syndrom
autozomálně recesivní Weillův-Marchesaniho syndrom
Marchesaniho syndrom
Weillův-Marchesaniho syndrom autozomálně dominantní
Weillův-Marchesaniho syndrom autozomálně recesivní

 

Congenital Mesodermal Dysmorphodystrophy
GEMSS
Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome
Marchesani Syndrome
Marchesani-Weill Syndrome
Mesodermal Dysmorphodystrophy, Congenital
Spherophakia Brachymorphia Syndrome
Spherophakia-Brachymorphia Syndrome
Weill Marchesani Syndrome
Weill-Marchesani Syndrome, Autosomal Dominant
Weill-Marchesani Syndrome, Autosomal Recessive

Persistent link   https://www.medvik.cz/link/D056846
Definition

Rare congenital disorder of connective tissue characterized by brachydactyly, joint stiffness, childhood onset of ocular abnormalities (e.g., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.

DUI
D056846 MeSH Browser
CUI
M0529438
History note
2010
Public note
2010

Allowable subheadings

BL
blood 0
CF
cerebrospinal fluid 0
CI
chemically induced 0
CL
classification 0
CO
complications 1
DI
diagnosis 0
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 0
PC
prevention & control 0
PX
psychology 0
RT
radiotherapy 0
RH
rehabilitation 0
SU
surgery 0
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
C05.116.099.343 Dwarfism 97
C05.116.099.343.110 Achondroplasia 71
C05.116.099.343.250 Cockayne Syndrome 4
C05.116.099.343.347 Congenital Hypothyroidism 151
C05.116.099.343.445 Dwarfism, Pituitary 50
C05.116.099.343.679 Laron Syndrome 1
C05.116.099.343.796 Mulibrey Nanism 1
C05.116.099.343.957 Weill-Marchesani Syndrome 1
C11 Eye Diseases 1 485
C11.270 Eye Diseases, Hereditary 57
C11.270.019 Aicardi Syndrome
C11.270.040 Albinism 17
C11.270.060 Aniridia 18
C11.270.142 Choroideremia 3
C11.270.147 Coloboma 14
C11.270.151 Cone Dystrophy
C11.270.152 Cone-Rod Dystrophies
C11.270.162 Corneal Dystrophies, Hereditary 63
C11.270.235 Duane Retraction Syndrome 9
C11.270.238 Familial Exudative Vitreoretinopathies
C11.270.240 Graves Ophthalmopathy 57
C11.270.468 Gyrate Atrophy 1
C11.270.516 Leber Congenital Amaurosis 6
C11.270.564 Optic Atrophies, Hereditary 5
C11.270.588 Optic Nerve Hypoplasia 1
C11.270.612 Retinal Degeneration 75
C11.270.660 Retinal Dysplasia 4
C11.270.684 Retinitis Pigmentosa 55
C11.270.862 Retinoblastoma 159
C11.270.872 Stargardt Disease 6
C11.270.881 Walker-Warburg Syndrome 4
C11.270.921 Weill-Marchesani Syndrome 1
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
C16.320 Genetic Diseases, Inborn 1 213
C16.320.290 Eye Diseases, Hereditary 57
C16.320.290.019 Aicardi Syndrome
C16.320.290.040 Albinism 17
C16.320.290.078 Aniridia 18
C16.320.290.142 Choroideremia 3
C16.320.290.152 Cone-Rod Dystrophies
C16.320.290.162 Corneal Dystrophies, Hereditary 63
C16.320.290.235 Duane Retraction Syndrome 9
C16.320.290.352 Familial Exudative Vitreoretinopathies
C16.320.290.410 Graves Ophthalmopathy 57
C16.320.290.468 Gyrate Atrophy 1
C16.320.290.564 Optic Atrophies, Hereditary 5
C16.320.290.612 Optic Nerve Hypoplasia 1
C16.320.290.660 Retinal Dysplasia 4
C16.320.290.684 Retinitis Pigmentosa 55
C16.320.290.724 Stargardt Disease 6
C16.320.290.763 Vitelliform Macular Dystrophy 5
C16.320.290.842 Weill-Marchesani Syndrome 1
C17 Skin and Connective Tissue Diseases 32
C17.300 Connective Tissue Diseases 280
C17.300.116 Anetoderma 5
C17.300.182 Cartilage Diseases 140
C17.300.185 Cellulitis 132
C17.300.200 Collagen Diseases 183
C17.300.230 Cutis Laxa 10
C17.300.250 Dermatomyositis 239
C17.300.270 Dupuytren Contracture 61
C17.300.349 Fibromatosis, Plantar
C17.300.428 Homocystinuria 107
C17.300.451 Lipedema 20
C17.300.475 Lupus Erythematosus, Cutaneous 76
C17.300.480 Lupus Erythematosus, Systemic 1 089
C17.300.500 Marfan Syndrome 105
C17.300.540 Mixed Connective Tissue Disease 22
C17.300.550 Mucinoses 17
C17.300.680 Neoplasms, Connective Tissue 122
C17.300.690 Noonan Syndrome 51
C17.300.705 Osteopoikilosis 6
C17.300.710 Panniculitis 42
C17.300.715 Penile Induration 48
C17.300.766 Pseudoxanthoma Elasticum 13
C17.300.775 Rheumatic Diseases 2 175
C17.300.787 Scleroderma, Localized 61
C17.300.799 Scleroderma, Systemic 482
C17.300.849 Undifferentiated Connective Tissue Diseases 3
C17.300.899 Weill-Marchesani Syndrome 1

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