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Desmosterolosis

Orpha number ORPHA35107
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q87.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Desmosterolosis is a cholesterol-biosynthesis disorder characterized by multiple malformations and generalised accumulation of desmosterol. It has been reported in only two patients. Both had increased levels of desmosterol in tissue or plasma samples, dysmorphic facies and cleft palate. The other malformations associated with this disorder varied considerably between the two patients, including micro or macrocephaly, total anomalous pulmonary venous return, ambiguous genitalia, generalized osteosclerosis, persistent patent ductus arteriosus or agenesis of the corpus callosum. The disease is transmitted as an autosomal recessive trait and is caused by deficiency of 3betahydroxysterol-delta24-reductase. The first child died one hour after birth.


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