syndromic disease microcephaly-brain defect-spasticity-hypernatremia syndrome https://rarediseases.info.nih.gov/diseases/3607/microcephaly-brain-defect-spasticity-hypernatremia https://www.malacards.org/card/microcephaly_brain_defect_spasticity_hypernatremia_syndrome Franek-Bocker-Kahlen syndrome microcephaly brain defect spasticity hypernatremia UMLS:C4749368 MEDGEN:1668792 GARD:0003607 Orphanet:2523 MONDO:0016758 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. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986. microcephaly - brain defect - spasticity - hypernatremia