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Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation.

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.

SUBMITTER: Radhakrishnan P

PROVIDER: S-EPMC5548533 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature

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Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation.

Radhakrishnan Periyasamy P Nayak Shalini S SS Pai Muralidhar V MV Shukla Anju A Girisha Katta M KM

Journal of pediatric genetics 20170410 3

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 omphaloce ...[more]

PMID: 28794915

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