Macrodactyly

0004099

Normal Case/Contol

GWAS of 0004099

Sibling Case/Control

No sibling GWAS available 0004099

Statistics

Case Control
3593 456601

Phenotype Definition

Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit. [PMID:19125433]

Phenotype Comment

There are no recognized standards for the girth of digits and this finding can vary substantially in the population. This assessment relies on the judgment of the examiner to recognize when the difference between the expected and the observed is significant. The affected digits should be specified. The definition does not mandate the component of the increased size (bone, connective tissue, etc.), but should exclude edema. The requirement that the girth is most, or all, of the digit is intended to distinguish this from broad fingertips. This should be distinguished from Broad fingers or Broad fingertips as the girth is circumferential in macrodactyly, which is not the case for broad fingers or broad fingertips, which are increased only (or predominantly) in their lateral (A/P) width.


Top SNP Information

Associated Diseases

ID Name Top Correlation
ICD: C445 Skin of trunk 15/20