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Crane-Heise syndrome

Orpha number ORPHA1512
Synonym(s) -
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q87.5
ICD-O -
OMIM
UMLS
  • C1857532
MeSH
  • C536452
MedDRA -
SNOMED CT -

Summary

Crane-Heise syndrome is a very rare syndrome characterized by poorly mineralized calvarium, facial dysmorphism, vertebral abnormalities and absent clavicles.

Nine cases have been reported in the literature so far.

Dysmorphic features include micrognathia, cleft palate, hypertelorism and upturned nares. Clavicular aplasia is constant and agenesis of cervical vertebral bodies is frequent. Intra uterine growth retardation is constant.

It is most likely that the condition is hereditary, transmitted as an autosomal recessive trait.

Antenatal diagnosis is possible by ultrasonographic monitoring for cerebral and vertebral malformations.

Prognosis is poor; the syndrome is almost always lethal soon after birth.


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