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Holoprosencephaly-radial heart renal anomalies syndrome

Disease definition

Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.


  • Synonym(s):
    • Steinfeld syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q87.8
  • OMIM: 184705
  • UMLS: C1866649
  • MeSH: -
  • GARD: 2727
  • MedDRA: -

Detailed information


Additional information

Further information on this disease

Specialised Social Services

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