Congenital macrodactylia
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Sign InDescription
Macrodactyly is a congenital anomaly characterized by fibrofatty tissue enlargement and bony overgrowth in affected digits with resultant loss of function. Macrodactyly affects a 'nerve territory,' and the individual peripheral nerve is both enlarged and elongated (summary by Rios et al., 2013).
Mode of Inheritance
- Somatic mutation
VARIANTS
4