Abstract
Synpolydactyly (SPD) is an autosomal dominant congenital limb disorder due to mutations
in HOXD13. It is a phenotypically heterogeneous condition characterized by syndactyly of the
third finger (F3), fourth finger (F4) and/or fourth toe (T4), and fifth toe (T5) with
variably associated polydactyly. We report on a mother and fetus with SPD. The mother
has a novel mutation (c.708_708delC) in the HOXD13 gene that was also seen in the fetus. However, the fetus had congenital omphalocele
in addition to SPD that is an association not reported to date. A chromosomal microarray
in the fetus was normal. We report a novel mutation in HOXD13 and document co-occurrence of an omphalocele and SPD in a fetus.
Keywords
synpolydactyly -
HOXD13
- omphalocele - syndactyly - polydactyly
