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Cerebral gigantism - jaw cysts

Orpha number ORPHA2081
Synonym(s) Cramer-Niederdellmann syndrome
Prevalence <1 / 1 000 000
Inheritance Unknown
Age of onset -
ICD-10
  • Q04.8
ICD-O -
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome is characterised by cerebral gigantism associated with a jaw cyst basal cell naevoid syndrome. It has been reported in less than ten patients from two families. Neurological manifestations include hydrocephalus, ventricular malformation, a cerebellar syndrome, intracranial calcification, oculomotor disturbances and, in some cases, mild peripheral nervous disorders.


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