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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.

ORPHA:3439

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: C565618
  • GARD: 1894
  • MedDRA: -

Summary

Epidemiology

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.

Etiology

Pathogenesis and cause of this syndrome are unknown.

Genetic counseling

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

- Last update: May 2010

  A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010) Greek (2010, pdf)

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.