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Von Voss-Cherstvoy syndrome

Orpha number ORPHA3439
Synonym(s) DK phocomelia syndrome
Phocomelia - thrombocytopenia - encephalocele - urogenital malformations
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.

Less than 15 cases have been reported.

The spectrum of upper limb defects varies from radial agenesis and phocomelia to amelia. A meningoencephalocele is constant. The intellectual development may be normal.

Pathogenesis and cause of this syndrome are unknown.

Parental consanguinity reported in a family suggests an autosomal recessive pattern of inheritance.


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Detailed information

Anesthesia guidelines
  • EN (2013,pdf)
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