Microcephaly brain defect spasticity hypernatremia
Alternate names
Franek-Bocker-Kahlen syndrome; Microcephaly - brain defect - spasticity - hypernatremia
Definition
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.
NIH genetic and rare disease info
Microcephaly brain defect spasticity hypernatremia is a rare disease.
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