Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Malformation syndrome Synonyms Franek-Bocker-Kahlen syndrome Zespół Franeka, Bockera i Kahlena ORPHA code 2523 OMIM code - ICD10 code G98 ICD11 code LD20.2 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl