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Luscan-Lumish syndrome is a rare condition characterized by overgrowth, macrocephaly, obesity, type I Chiari malformation, and language delays.It has been identified as an autosomal dominant genetic disorder and is associated with variants in the SETD2 gene.
Other conditions sometimes causally associated with Chiari malformation include hydrocephalus, [49] syringomyelia, spinal curvature, tethered spinal cord syndrome, and connective tissue disorders [42] such as Ehlers–Danlos syndrome [50] and Marfan syndrome. Chiari malformation is the most frequently used term for this set of conditions.
Arnold–Chiari malformation; Asomatognosia; Asperger syndrome; Ataxia; ATR-16 syndrome; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder predominately inattentive; Auditory processing disorder; Autism spectrum disorder
Arnold–Chiari malformation, or simply "Chiari malformation", a malformation of the brain; Budd–Chiari syndrome, a disease with typical symptoms of abdominal pain, ascites and hepatomegaly caused by occlusion of the hepatic veins; Chiari–Frommel syndrome, an older term for hyperprolactinaemia with extended postpartum galactorrhea and ...
Developmental disorders including neural-tube defects, arachnoid cysts, Dandy–Walker malformations, and Arnold–Chiari malformations can cause primary hydrocephalus. Dandy-walker malformations and Arnold-Chiari malformations lead to structural abnormalities in the brain, which disrupts the flow of CSF and causes hydrocephalus.
Arnold–Chiari malformation; B. Bannayan–Zonana syndrome; Bardet–Biedl syndrome; Barth syndrome; Basal-cell nevus syndrome; Beckwith–Wiedemann syndrome;
The Chiari Institute is a medical institution that focuses on the treatment of Arnold–Chiari malformation and syringomyelia. It was established in 2001 by the North Shore-LIJ Health System , and is located in Great Neck, New York . [ 1 ]
Individuals with colpocephaly have various degrees of motor disabilities, visual defects, spasticity, and moderate to severe intellectual disability. [3] No specific treatment for colpocephaly exists, but patients may undergo certain treatments to improve their motor function or intellectual disability.
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