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Bowen-Conradi syndrome

Disease definition

A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, profound psychomotor delay, hip and knee contractures and rockerbottom feet.

ORPHA:1270

Classification level: Disorder
  • Synonym(s):
    • Bowen syndrome, Hutterite type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 211180
  • UMLS: C1859405
  • MeSH: C537081
  • GARD: 5950
  • MedDRA: -

Detailed information

Professionals

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.