Polydactyly and syndactyly in a Chinese family with Floating-Harbor syndrome: an expansion of the clinical phenotype
(c.609G>A/p.Trp203Ter and c.565C>T/p.Arg189Cys), potentially explaining some extra-skeletal symptoms. In summary, this study describes the first case of FLHS concurrently presenting with both polydactyly and syndactyly. Our work broadens the known phenotypic range of this rare syndrome.
Authors
- Daoqi Huang
- Cao Y
- Xiaohua Jiang
- Chaohong Wang
- Jiansheng Zhu
- Junxiang Tang
Institutions
- University of Science and Technology of China (CN)
- Anhui Medical University (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2026-04-21
- DOI
- https://doi.org/10.3389/fgene.2026.1761836
- Primary Topic
- Congenital limb and hand anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00