Orphanet: PHAVER syndrome
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PHAVER syndrome

Disease definition

A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects.

ORPHA:2876

Classification level: Disorder
  • Synonym(s):
    • Powell-Chandra-Saal syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 261575
  • UMLS: C1849928
  • MeSH: -
  • GARD: 4465
  • MedDRA: -

  A summary on this disease is available in Español (2010) Français (2010) Nederlands (2010)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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