Aetiology
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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