/microcephaly-brain defect-spasticity-hypernatremia syndrome

microcephaly-brain defect-spasticity-hypernatremia syndrome

Rare Disease

MONDO:0016758

Also Known As

Franek-Bocker-Kahlen syndromemicrocephaly - brain defect - spasticity - hypernatremiamicrocephaly 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. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986.