Orphanet: Ectrodactyly polydactyly syndrome
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Ectrodactyly-polydactyly syndrome

Disease definition

Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.

ORPHA:1892

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Antenatal
  • ICD-10: Q69.9  Q73.8
  • OMIM: 225290
  • UMLS: C1857040
  • MeSH: -
  • GARD: 2068
  • MedDRA: -

  A summary on this disease is available in Español (2018) Italiano (2018) Nederlands (2018)

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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