Aicardi Syndrome [Aicardiho syndrom]

topical
Terms

ageneze corpus callosum s chorioretinálními abnormalitami

 

Agenesis of Corpus Callosum with Chorioretinal Abnormality
Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities
Aicardi's Syndrome
Callosal Agenesis and Ocular Abnormalities
Chorioretinal Anomalies with Acc
Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality

Persistent link   https://www.medvik.cz/link/D058540
Definition

A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.

DUI
D058540 MeSH Browser
CUI
M0543078
Previous indexing
Syndrome (1972-2010)
History note
2011
Public note
2011

C Diseases
C10.500.034.500 Acrocallosal Syndrome 1
C10.500.034.687 Aicardi Syndrome
C10.500.034.875 Holoprosencephaly 8
C10.500.034.937 Septo-Optic Dysplasia 15
C11 Eye Diseases 1 485
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
C11.270.468 Gyrate Atrophy 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
C16.131.162 Aicardi Syndrome
C16.131.260 Chromosome Disorders 259
C16.131.384 Eye Abnormalities 107
C16.131.666.034.500 Acrocallosal Syndrome 1
C16.131.666.034.687 Aicardi Syndrome
C16.131.666.034.875 Holoprosencephaly 8
C16.131.666.034.937 Septo-Optic Dysplasia 15
C16.131.810 Situs Inversus 33
C16.131.831 Skin Abnormalities 51
C16.131.894 Thyroid Dysgenesis 15
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
C16.320.290.235 Duane Retraction Syndrome 9
C16.320.290.410 Graves Ophthalmopathy 57
C16.320.290.468 Gyrate Atrophy 1
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
C16.320.290.842 Weill-Marchesani Syndrome 1
C16.320.322.030 Aicardi Syndrome
C16.320.322.068 Barth Syndrome 6
C16.320.322.092 Choroideremia 3
C16.320.322.100 Dent Disease 1
C16.320.322.108 Dyskeratosis Congenita 9
C16.320.322.124 Fabry Disease 187
C16.320.322.186 Focal Dermal Hypoplasia 6
C16.320.322.235 Hemophilia B 214
C16.320.322.241 Ichthyosis, X-Linked 9
C16.320.322.562 Muscular Dystrophy, Duchenne 133
C16.320.322.937 Wiskott-Aldrich Syndrome 20