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Andermann syndrome, also known as agenesis of corpus callosum with neuronopathy (ACCPN), Charlevoix disease and KCC3 axonopathy among other names, [1] is a very rare neurodegenerative genetic disorder that damages the nerves used to control muscles and related to sensation and is often associated with agenesis of the corpus callosum. [1] [2] [3 ...
Agenesis of the corpus callosum (ACC) is a rare birth defect in which there is a complete or partial absence of the corpus callosum. It occurs when the development of the corpus callosum, the band of white matter connecting the two hemispheres in the brain , in the embryo is disrupted.
Agenesis of the corpus callosum that can either be complete or partial; Polysyndactyly, preaxial type; Hand/foot syndactyly; Pearl-white areas in the skin that are prone to scarring and suffer from atrophy; Eye, cheek, and limb hair growth abnormalities; Iris coloboma; Microphthalmia; Congenital short gut; Intestinal malrotation; Dysmotility ...
Acrocallosal syndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. [3] The syndrome was first described by Albert Schinzel in 1979. [4]
The males (all infants) had partial corpus callosum agenesis, severe intellectual disabilities, developmental delays, and epilepsy. The disorder first manifested right after birth, with recurrent seizures occurring hours after it. Out of these 5 babies, 3 had died. Post-mortem examination of one of the dead infants revealed chemical and ...
Partial or complete absence of the corpus callosum in the brain (agenesis of the corpus callosum); Eye abnormalities known as "lacunae" of the retina that are quite specific to this disorder; optic nerve coloboma; and; The development in infancy of seizures that are called infantile spasms.
Dogs with this kind of cancer that have surgery usually only survive 3 to 18 months, depending on how advanced the cancer is when found (1). Squamous cell carcinoma: This is a good possibility ...
Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum (or absent corpus callosum cataract immunodeficiency), [1] is a rare autosomal recessive [2] congenital disorder characterized by albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, severe psychomotor retardation, seizures, immunodeficiency and recurrent ...