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Aetiology

Authoring team

The aetiology of congenital thumb hypoplasia is unknown, but there are a number of theories including:

  • extrinsic toxin exposure in utero eg thalidomide
  • fetal neurological injury
  • intrauterine hypoxia

There are a number of genetic conditions which are associated with thumb hypoplasia including:

  • cleft hand
  • radial dysplasia
  • Fanconi's anaemia
  • thrombocytopaenia
  • VATER association
  • Holt-Oram syndrome
  • Cornelia de Lange's syndrome
  • diastrophic dwarfism
  • 13q deletion

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