Triphalangeal thumb is considered a form of pre-axial polydactyly.
Epidemiology
Triphalangeal thumbs have an incidence of 1 in 25,000 7.
Associations
There is a long list of associations 1-6:
- Aase syndrome
- anatomic variant: isolated anomaly
- Diamond-Blackfan syndrome
- DOOR syndrome
- Duane-radial syndrome
- Fanconi anemia (pancytopenia-dysmelia syndrome)
- fetal hydantoin syndrome (Dilantin embryopathy)
- Goodman syndrome
- Holt-Oram syndrome
- hypomelanosis of Ito
- IVIC syndrome
- Juberg-Hayward syndrome
- Lacrimo-auriculo-dento-digital syndrome (LADD syndrome / Levy-Hollister syndrome)
- mesomelic dysplasia (Werner type)
- Nager syndrome
- Poland syndrome (pectoral muscle aplasia-syndactyly)
- thalidomide embryopathy
- Townes-Brocks syndrome
- trichorhinophalangeal dysplasia type II (Langer Giedion syndrome)
- trisomy 13
- trisomy 22
- VATER association
Pathology
A triphalangeal thumb, as the name implies, has three phalanges instead of the usual two. There is an autosomal dominant genetic transmission 8,9.
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