MCID: WHT018
MIFTS: 16

White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual...

MalaCards integrated aliases for White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome:

Name: White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome 52 58
Curatolo Cilio Pessagno Syndrome 52 71
Curatolo-Cilio-Pessagno Syndrome 52 58
Familial White Matter Hypoplasia, Agenesis of the Corpus Callosum, Intellectual Disability and Growth Deficiency 52

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

UMLS via Orphanet 72 C2931292
Orphanet 58 ORPHA3207
UMLS 71 C2931292

Summaries for White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual...

NIH Rare Diseases : 52 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome is a very rare neurological condition. The few patients described in the medical literature were characterized by brain anomalies; an unusual face with broad nasal root, widely spaced eyes (hypertelorism), and a very small chin (micrognathia ); failure to thrive; severe intellectual disability ; and lack of muscle tone (hypotonia ). Exams of the brain showed poor development (hypoplasia) of the pale part of the brain known as white matter , and an absent or abnormal corpus callosum (nerve fibers joining the two hemispheres of the brain). Only a few cases have been described. The cause is unknown but may be related to a disorder of axonal development. The described cases seem to be inherited in an autosomal recessive or X-linked way. Corpus callosum agenesis is one of the more frequent congenital malformations. It can be either asymptomatic or associated with intellectual disability, epilepsy , or psychiatric syndromes. It can be part of several genetic syndromes, such as Aicardi syndrome , Andermann syndrome and Apert syndrome , trisomies 13 , 18 ; or result from metabolic causes; drugs (cocaine); or viral infection (influenza). Many patients with corpus callosum anomalies have other brain anomalies, including white matter hypoplasia. There is no information on specific treatment for this condition.

MalaCards based summary : White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome, is also known as curatolo cilio pessagno syndrome. Affiliated tissues include eye, brain and cerebellum, and related phenotypes are hypertelorism and frontal bossing

Related Diseases for White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual...

Symptoms & Phenotypes for White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual...

Human phenotypes related to White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
4 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
5 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
6 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
7 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
8 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
9 cerebral cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002120
10 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
11 aplasia/hypoplasia of the corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0007370
12 cerebral white matter hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0012430
13 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
14 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
15 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
16 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
17 adducted thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001181

Drugs & Therapeutics for White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual...

Search Clinical Trials , NIH Clinical Center for White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome

Genetic Tests for White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual...

Anatomical Context for White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual...

MalaCards organs/tissues related to White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome:

40
Eye, Brain, Cerebellum

Publications for White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual...

Variations for White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual...

Expression for White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual...

Search GEO for disease gene expression data for White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome.

Pathways for White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual...

GO Terms for White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual...

Sources for White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual...

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