Microcephaly-brain defect-spasticity-hypernatremia syndrome

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Microcephaly-brain defect-spasticity-hypernatremia syndrome

Synonyms: Franek-Bocker-Kahlen syndrome

Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly hypertonia developmental delay and cognitive impairment swallowing difficulty hypernatremia and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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