Brachydactyly type A1
Web Resources for Brachydactyly type A1
Relevant Clinical Literature
Wikipedia on Brachydactyly type A1 (Less technical, ? quality control)
- Indian hedgehog protein N-product
- Active species in both local and long-range signalling
- N-palmitoylation is required for full activity
- Indian hedgehog protein C-product
- No signalling activity
- Diffuses from the cell
- Brachydactyly type A1 (BDA1)
- Autosomal dominant disorder with middle phalanges rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short.
- Acrocapitofemoral dysplasia (ACFD)
- Short stature of variable severity. Cone-shaped epiphyses or similar epiphyseal configuration with premature epimetaphyseal fusion results in shortened skeletal components.