MCID: ACR012
MIFTS: 49

Aicardi Syndrome

Categories: Rare diseases, Eye diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Aicardi Syndrome

MalaCards integrated aliases for Aicardi Syndrome:

Name: Aicardi Syndrome 53 12 72 23 49 24 50 55 36 13 41 14
Aicardi's Syndrome 24 28 69
Corpus Callosum, Agenesis of, with Chorioretinal Abnormality 53 49
Agenesis of Corpus Callosum with Chorioretinal Abnormality 24 55
Aic 53 49
Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities 24
Callosal Agenesis and Ocular Abnormalities 24
Chorioretinal Anomalies with Acc 24

Characteristics:

Orphanet epidemiological data:

55
aicardi syndrome
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: any age;

OMIM:

53
Inheritance:
x-linked dominant


HPO:

31
aicardi syndrome:
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Aicardi Syndrome

NIH Rare Diseases : 49 Aicardi syndrome is a rare neurological disorder. The severity of the syndrome and the associated signs and symptoms vary from person to person. The three main features of Aicardi syndrome are:Complete or partial absence of the nerve tissue that allows the right and left sides of the brain to communicate (corpus callosum) Seizures beginning in infancy (infantile spasms), that may become hard to control (refractory epilepsy) Defects or holes in the light sensitive tissue at the back of the eye (retina) known as chorioretinal lacunae Other signs and symptoms may include:Developmental delay Intellectual disability that ranges from very mild to severe Characteristic facial features, such as a short distance between the nose and lips, a flat nose, large ears and thin eyebrows. Other brain malformations such as a very small head (microcephaly) Other eye defects, such as very small eyes (microphthalmia) or a defect of the nerve connecting the retina to the brain  (optic nerve) known as coloboma. The cause of Aicardi syndrome is currently unknown. Because the syndrome almost only affects females, it is believed to be caused by a change (mutation) in a gene located on the X-chromosome and inherited in a dominant X-linked manner. However, most cases are de novo, which means the genetic change happened by mistake during the making of the egg or the sperm and there are no other cases of the syndrome in the family. While there is no known cure for Aicardi syndrome, there are treatments that can help control symptoms.  Seizures may be treated with ketogenic diet and different types of anti-seizure medications. If medication does not control the seizures, a vagal nerve stimulator may be used or, in more severe cases, surgery may be considered. Other treatment may include physical therapy, speech therapy, and occupational therapy, as well as support for skeletal and muscle problems to prevent scoliosis related complication. Speech is usually very limited, while other abilities and disabilities vary greatly.  In cases of severe epilepsy and/or if there are serious brain or eye defects,  the intellectual disabilities tend to be more severe. The life span of girls with Aicardi syndrome usually averages between 8 and 18 years, but several women with milder symptoms have lived into their 30’s and 40’s. Very severe cases may not live beyond infancy. Last updated: 3/13/2017

MalaCards based summary : Aicardi Syndrome, also known as aicardi's syndrome, is related to aicardi-goutieres syndrome 1 and corpus callosum, agenesis of, and has symptoms including constipation, nystagmus and precocious puberty. An important gene associated with Aicardi Syndrome is AIC (Aicardi Syndrome). Affiliated tissues include brain, eye and retina, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye.

Genetics Home Reference : 24 Aicardi syndrome is a disorder that occurs almost exclusively in females. It is characterized by three main features that occur together in most affected individuals. People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). They have seizures beginning in infancy (infantile spasms), which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat. Affected individuals also have chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye (retina).

OMIM : 53 Aicardi syndrome is characterized by a triad of callosal agenesis, infantile spasms, and chorioretinal lacunae ('holes'). Flexion spasms in the infant represent the usual mode of clinical presentation (Aicardi, 1999). (304050)

NINDS : 50 Aicardi syndrome is a rare genetic disorder that primarily affects newborn girls. The condition is sporadic, meaning it is not known to pass from parent to child. (An exception is a report of two sisters and a pair of identical twins, all of whom were affected.) The mutation that causes Aicardi syndrome has not been identified, but it is thought to be caused by a dominant mutation that appears for the first time in a family in an x-linked gene that may be lethal in certain males.. Aicardi syndrome can be seen in boys born with an extra "X" chromosome. (Females have two X chromosomes, while males normally have an X and a Y chromosome.) The precise gene or genetic mechanism causing Aicardi syndrome is not yet known. Originally, Aicardi syndrome was characterized by three main features: 1) partial or complete absence of the structure (corpus callosum) that links the two halves of the brain (2) infantile spasms (a type of seizure disorder), and 3)chorioretinal lacunae, lesions on the retina that look like yellowish spots. However, Aicardi syndrome is now known to have a much broader spectrum of abnormalities than was initially described. Not all girls with the condition have the three features described above and many girls have additional feature such as lower tone around the head and trunk, microcephaly (small head circumference), and spasticity in the limbs. Typical findings in the brain of girls with Aicardi syndrome include heterotopias, which are groups of brain cells that, during development, migrated to the wrong area of brain; polymicrogyria or pachygyria, which are numerous small, or too few, brain folds; and cysts, (fluid filled cavities) in the brain. Girls with Aicardi syndrome have varying degrees of intellectual disability and developmental delay. Many girls also have developmental abnormalities of their optic nerves and some have microphthalmia (small eyes). Skeletal problems such as absent or abnormal ribs and abnormalities of vertebrae in the spinal column (including hemivertebrae and butterfly vertebrae) have also been reported. Some girls also have skin problems, facial asymmetry, small hands, and an increased incidence of tumors. (Aicardi syndrome is distinct from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.)

Wikipedia : 72 Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete... more...

GeneReviews: NBK1381

Related Diseases for Aicardi Syndrome

Graphical network of the top 20 diseases related to Aicardi Syndrome:



Diseases related to Aicardi Syndrome

Symptoms & Phenotypes for Aicardi Syndrome

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
pachygyria
infantile spasms
dandy-walker malformation
delayed myelination
more
Endocrine Features:
precocious puberty

Head And Neck Head:
microcephaly

Growth Other:
postnatal growth retardation

Head And Neck Face:
facial asymmetry

Neoplasia:
hepatoblastoma
benign teratoma
embryonal carcinoma
metastatic angiosarcoma

Head And Neck Nose:
upturned nasal tip
decreased angle of nasal bridge

Abdomen Gastroin testinal:
hiatal hernia

Head And Neck Eyes:
nystagmus
cataract
optic atrophy
microphthalmia
retinal detachment
more
Skeletal Spine:
scoliosis
spina bifida
hemivertebrae
block vertebrae
butterfly vertebrae

Head And Neck Mouth:
cleft palate
cleft lip
prominent premaxilla

Respiratory Lung:
recurrent pneumonia

Chest RibsSternum Clavicles And Scapulae:
bifid ribs
fused ribs
extra ribs
absent ribs

Skin Nails Hair Skin:
skin tags
hemangiomas
multiple nevi
scalp lipoma
hypopigmented macules

Skeletal Hands:
proximally placed thumbs

Skin Nails Hair Hair:
sparse lateral eyebrows


Clinical features from OMIM:

304050

Human phenotypes related to Aicardi Syndrome:

55 31 (show top 50) (show all 76)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002019
2 nystagmus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000639
3 precocious puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000826
4 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
5 spasticity 55 31 frequent (33%) Frequent (79-30%) HP:0001257
6 eeg abnormality 55 31 frequent (33%) Frequent (79-30%) HP:0002353
7 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
8 hip dysplasia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001385
9 malabsorption 55 31 occasional (7.5%) Occasional (29-5%) HP:0002024
10 microcephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000252
11 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
12 abnormality of retinal pigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007703
13 gastroesophageal reflux 55 31 occasional (7.5%) Occasional (29-5%) HP:0002020
14 feeding difficulties in infancy 55 31 occasional (7.5%) Occasional (29-5%) HP:0008872
15 delayed puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000823
16 intellectual disability, severe 55 31 hallmark (90%) Very frequent (99-80%) HP:0010864
17 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
18 hemiplegia/hemiparesis 55 31 frequent (33%) Frequent (79-30%) HP:0004374
19 severe global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0011344
20 protruding ear 55 31 frequent (33%) Frequent (79-30%) HP:0000411
21 multiple lipomas 55 31 occasional (7.5%) Occasional (29-5%) HP:0001012
22 ventriculomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0002119
23 aplasia/hypoplasia of the cerebellum 55 31 frequent (33%) Frequent (79-30%) HP:0007360
24 chorioretinal coloboma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000567
25 intellectual disability, moderate 55 31 hallmark (90%) Very frequent (99-80%) HP:0002342
26 short philtrum 55 31 frequent (33%) Frequent (79-30%) HP:0000322
27 microphthalmia 55 31 frequent (33%) Frequent (79-30%) HP:0000568
28 small hand 55 31 occasional (7.5%) Occasional (29-5%) HP:0200055
29 retinal detachment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000541
30 abnormality of skin pigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001000
31 cleft upper lip 55 31 occasional (7.5%) Occasional (29-5%) HP:0000204
32 intestinal polyposis 55 31 occasional (7.5%) Occasional (29-5%) HP:0200008
33 optic nerve coloboma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000588
34 bifid ribs 55 31 frequent (33%) Frequent (79-30%) HP:0000892
35 rib fusion 55 31 frequent (33%) Frequent (79-30%) HP:0000902
36 missing ribs 55 31 frequent (33%) Frequent (79-30%) HP:0000921
37 pachygyria 55 31 hallmark (90%) Very frequent (99-80%) HP:0001302
38 partial agenesis of the corpus callosum 55 31 hallmark (90%) Very frequent (99-80%) HP:0001338
39 plagiocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001357
40 hiatus hernia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002036
41 polymicrogyria 55 31 hallmark (90%) Very frequent (99-80%) HP:0002126
42 hepatoblastoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002884
43 block vertebrae 55 31 frequent (33%) Frequent (79-30%) HP:0003305
44 butterfly vertebrae 55 31 frequent (33%) Frequent (79-30%) HP:0003316
45 sparse lateral eyebrow 55 31 frequent (33%) Frequent (79-30%) HP:0005338
46 supernumerary ribs 55 31 frequent (33%) Frequent (79-30%) HP:0005815
47 moderate global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0011343
48 infantile spasms 55 31 hallmark (90%) Very frequent (99-80%) HP:0012469
49 cataract 31 HP:0000518
50 anteverted nares 31 HP:0000463

UMLS symptoms related to Aicardi Syndrome:


seizures

GenomeRNAi Phenotypes related to Aicardi Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.23 CDKL5 FLNA
2 Decreased viability GR00221-A-1 9.23 CDKL5
3 Decreased viability GR00221-A-2 9.23 CDKL5
4 Decreased viability GR00221-A-3 9.23 CDKL5
5 Decreased viability GR00221-A-4 9.23 CDKL5
6 Decreased viability GR00342-S-1 9.23 CDKL5
7 Decreased viability GR00342-S-3 9.23 CDKL5

Drugs & Therapeutics for Aicardi Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Selected X-Linked Disorders: Aicardi Syndrome Recruiting NCT00697411
2 Brain Development Research Program Recruiting NCT00305305

Search NIH Clinical Center for Aicardi Syndrome

Cochrane evidence based reviews: aicardi syndrome

Genetic Tests for Aicardi Syndrome

Genetic tests related to Aicardi Syndrome:

# Genetic test Affiliating Genes
1 Aicardi's Syndrome 28

Anatomical Context for Aicardi Syndrome

MalaCards organs/tissues related to Aicardi Syndrome:

38
Brain, Eye, Retina, Skin, Cerebellum, Cortex, Pineal

Publications for Aicardi Syndrome

Articles related to Aicardi Syndrome:

(show top 50) (show all 149)
# Title Authors Year
1
High-dose Chemotherapy is Efficacious and Well Tolerated in a Toddler With Aicardi Syndrome and Malignant Sacrococcygeal Teratoma. ( 29420371 )
2018
2
Adenocarcinoma of Pigmented Ciliary Epithelium in a Child With Aicardi Syndrome and Congenital Microphthalmia With Cyst. ( 29342031 )
2018
3
Triad of gloom in a girl child: Aicardi syndrome. ( 29323007 )
2018
4
Aicardi syndrome and cognitive abilities: A report of five cases. ( 28641168 )
2017
5
Agenesis of the Corpus Callosum and Aicardi Syndrome: AA Neuroimaging and Clinical Comparison. ( 28214165 )
2017
6
Foetal Magnetic Resonance Images of Two Cases of Aicardi Syndrome. ( 28892993 )
2017
7
Independent variant analysis of TEAD1 and OCEL1 in 38 Aicardi syndrome patients. ( 28361097 )
2017
8
Exploring genome-wide DNA methylation patterns in Aicardi syndrome. ( 28967789 )
2017
9
A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings. ( 27101753 )
2016
10
Aicardi syndrome: when to suspect the unexpected ( 27193831 )
2016
11
Late Presentation of Retinoblastoma in a Teen with Aicardi Syndrome. ( 27239462 )
2016
12
Aicardi syndrome: epilepsy surgery as a palliative treatment option for selected patients and pathological findings. ( 27818366 )
2016
13
Aicardi Syndrome. ( 27450814 )
2016
14
Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome. ( 27781033 )
2016
15
Iris cyst in a child with Aicardi syndrome: a novel association. ( 27320016 )
2016
16
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome. ( 26091538 )
2015
17
Aicardi syndrome: an epidemiologic and clinical study in Norway. ( 25443581 )
2015
18
Aicardi syndrome: Neonatal diagnosis by means of transfontanellar ultrasound. ( 25071893 )
2014
19
Scoliosis in Children With Aicardi Syndrome. ( 25494028 )
2014
20
Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? ( 24657013 )
2014
21
Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature. ( 23948796 )
2013
22
Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression? ( 23801936 )
2013
23
Aicardi syndrome in two Turkish children. ( 22750766 )
2013
24
Nevoid hypertrichosis of the face in a 3-month-old girl with Aicardi syndrome. ( 23985081 )
2013
25
Serial fetal MRI for the diagnosis of Aicardi syndrome. ( 24007726 )
2013
26
Choroidal neovascularization and bevacizumab therapy in Aicardi syndrome. ( 22546998 )
2013
27
Peripapillary chorioretinal lacunae in a girl with 3q21.3 to 3q22.1 microdeletion with features of Aicardi syndrome. ( 24052130 )
2013
28
Ophthalmologic findings in Aicardi syndrome. ( 22681940 )
2012
29
Oral extragonadal yolk sac tumor in a patient with Aicardi syndrome: putative origin and differential diagnosis. ( 22225777 )
2012
30
Aicardi syndrome. ( 22815034 )
2012
31
An unusual case of aicardi syndrome. ( 25390946 )
2012
32
Chorioretinal architecture in Aicardi syndrome: an optical coherence tomography and fluorescein angiography study. ( 21777802 )
2011
33
Laterality of brain and ocular lesions in Aicardi syndrome. ( 21824560 )
2011
34
Anesthetic management of a child with Aicardi syndrome undergoing laparoscopic Nissen's fundoplication: a case report. ( 21153034 )
2011
35
Bilaterally independent epileptic spasms in a case of Aicardi syndrome. ( 21873145 )
2011
36
Increasing recognition of cases with male Aicardi syndrome. ( 20032521 )
2010
37
Optic nerve aplasia in Aicardi syndrome. ( 21214165 )
2010
38
Aicardi syndrome: a case report. ( 21080756 )
2010
39
Orbital ectopic brain tissue in Aicardi syndrome. ( 20818257 )
2010
40
Diffusion tensor imaging of Aicardi syndrome. ( 20610117 )
2010
41
Chorioretinal lacunae: pathognomonic findings for Aicardi syndrome. ( 21214162 )
2010
42
Novel presentation of Aicardi syndrome with agenesis of the corpus callosum and an orbital cyst. ( 20427798 )
2010
43
Aicardi syndrome in a male patient. ( 19639527 )
2009
44
Is 47 XXY the genetic marker for Aicardi syndrome? ( 19955350 )
2009
45
Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. ( 19116813 )
2009
46
Aicardi syndrome mimicking intrauterine hydrocephalus. ( 19004586 )
2009
47
A genome-wide screen for copy number alterations in Aicardi syndrome. ( 19760649 )
2009
48
A male phenotype with Aicardi syndrome. ( 19182158 )
2009
49
Arachnoid cyst and costovertebral defects in Aicardi syndrome. ( 22530764 )
2009
50
Prenatal diagnosed cyst of the quadrigeminal cistern in Aicardi syndrome. ( 19107491 )
2009

Variations for Aicardi Syndrome

Copy number variations for Aicardi Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 257113 X 1 24900000 Copy number Aicardi syndrome

Expression for Aicardi Syndrome

Search GEO for disease gene expression data for Aicardi Syndrome.

Pathways for Aicardi Syndrome

GO Terms for Aicardi Syndrome

Biological processes related to Aicardi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.16 FLNA OFD1
2 cell projection organization GO:0030030 8.96 FLNA OFD1
3 mitotic spindle assembly GO:0090307 8.62 FLNA OFD1

Molecular functions related to Aicardi Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rac GTPase binding GO:0048365 8.62 CDKL5 FLNA

Sources for Aicardi Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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