Orphanet: Microcephaly brain defect spasticity hypernatremia syndrome
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Microcephaly-brain defect-spasticity-hypernatremia syndrome

Disease 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.

ORPHA:2523

Classification level: Disorder
  • Synonym(s):
    • Franek-Bocker-Kahlen syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: G98
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 3607
  • MedDRA: -

  A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018) Polski ()

Detailed information

Guidelines

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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