Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth global developmental delay intellectual disability and dysmorphic facial features (including frontal bossing long face sparse eyebrows hypertelorism downslanting palpebral fissures and prognathism). Patients may exhibit tall stature with dolichostenomelia arachnodactyly kyphoscoliosis and joint laxity as well as neurologic manifestations such as hypotonia gait ataxia or seizures. Brain imaging may show increased white matter volume thick corpus callosum or small cerebellum.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Megalencephaly-severe kyphoscoliosis-overgrowth syndrome?
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