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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1512
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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