This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Shashi-Pena syndrome is a rare neurologic disease characterized by delayed psychologic and motor development, variable intellectual disability, and poor muscle tone (hypotonia). Described features include tall stature, a large head (macrocephaly), deep palmar creases, and distinct facial features. These features include a port-wine birthmark on the forehead (glabellar nevus flammeus), widely spaced eyes (hypertelorism), arched eyebrows, prominent eyes, a broad nasal tip and minor ear abnormalities. Some patients may also have heart abnormalities (such as atrial septal defect), feeding difficulties, changes in bone mineral density, advanced bone age, aggressive and/or autistic behavior and/or seizures. MRI of the brain may show a loss of neuronal cells (cerebral atrophy). Blood exams may show episodes of low sugar (hypoglycemia), and in some cases, elevated liver enzymes (transaminases), high levels of insulin (hyperinsulinemia), and high fat levels (hyperlipidemia). Shashi-Pena syndrome is caused by variations (mutations) in the ASXL2 gene, which is important for neurologic and bone development, heart function, and glucose and lipid metabolism. Treatment depends on the symptoms and may include medication and behavioral therapy, as well as surgical procedures if needed.
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