microcephaly-brain defect-spasticity-hypernatremia syndrome
Findings
No curated finding names microcephaly-brain defect-spasticity-hypernatremia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0016758), read 2026-09-29. CC BY 4.0.
Features
6 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of metabolism/homeostasisHPOHP:0001939
- Very frequent (80% to 99% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- Very frequent (80% to 99% of cases)
- HoloprosencephalyHPOHP:0001360
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: microcephaly-brain defect-spasticity-hypernatremia syndrome
- Also called
- Franek-Bocker-Kahlen syndrome