Literature corpus
Description: The scientific literature, language processing, reference information, and documentation.
Preferred ID: EDAM:topic_3068 Type: term ID# ILX:0106308 Score: 22429.504
white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Description: 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, wide 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 a 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 being 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.
Preferred ID: MONDO:0017918 Type: term ID# ILX:0766634 Score: 135.2122
ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
Description: Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.
Preferred ID: MONDO:0009149 Type: term ID# ILX:0768905 Score: 8.742827
craniotelencephalic dysplasia
Description: Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.
Preferred ID: MONDO:0009042 Type: term ID# ILX:0767330 Score: 5.992524
infantile spasms-broad thumbs syndrome
Description: Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.
Preferred ID: MONDO:0017852 Type: term ID# ILX:0751789 Score: 5.166377
subClassOf Annotation
Description: The property rdfs:subClassOf is an instance of rdf:Property that is used to state that all the instances of one class are instances of another.
Preferred ID: ILX:0778161 Type: annotation ID# ILX:0778161 Score: 0.9637122
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