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Von Voss-Cherstvoy syndrome

Synonym(s) DK phocomelia syndrome
Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
  • Q87.8
MeSH -
MedDRA -


Disease definition

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.

Clinical description

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.

Genetic counseling

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

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