Orphanet: Von Voss Cherstvoy syndrome

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Von Voss-Cherstvoy syndrome

Disease definition

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


Classification level: Disorder
  • Synonym(s):
    • DK phocomelia syndrome
    • Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 223340
  • UMLS: C1857226
  • MeSH: -
  • GARD: 1894
  • MedDRA: -

Detailed information


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