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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.
Only malformation is the premature fusion of sutures; If left untreated, can lead to facial asymmetry resembling SCS: FGFR (any) Baller–Gerold syndrome (BGS) Short broad head, bulging eyes, flat forehead, poikiloderma, radial deformity with reduced number of digits, underdeveloped or missing thumb and radius, and growth retardation: RECQL4
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 ...
Arnold–Chiari malformation; B. Bannayan–Zonana syndrome; Bardet–Biedl syndrome; Barth syndrome; Basal-cell nevus syndrome; Beckwith–Wiedemann syndrome;
It is frequently co-morbid with atlanto-axial joint instability, Chiari malformation, [3] or tethered spinal cord syndrome. The condition can be brought on by physical trauma , including whiplash , laxity of the ligaments surrounding the joint, or other damage to the surrounding connective tissue.
Fetal surgery in utero before 26 weeks gestation has been performed with some hope that there is benefit to the outcome including a reduction in Arnold–Chiari malformation and thereby decreases the need for a ventriculoperitoneal shunt but the procedure is very high risk for both mother and baby and is considered extremely invasive with ...
There are a variety of disabilities affecting cognitive ability.This is a broad concept encompassing various intellectual or cognitive deficits, including intellectual disability (formerly called mental retardation), deficits too mild to properly qualify as intellectual disability, various specific conditions (such as specific learning disability), and problems acquired later in life through ...
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