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Crane-Heise syndrome

ORPHA1512
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Antenatal
Neonatal
ICD-10
  • Q87.5
OMIM
UMLS
  • C1857532
MeSH
  • C536452
MedDRA -

Summary

Disease definition

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

Epidemiology

Nine cases have been reported in the literature so far.

Clinical description

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.

Etiology

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

Antenatal diagnosis

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

Prognosis

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

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