{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T22:53:26Z","timestamp":1776812006147,"version":"3.51.2"},"reference-count":43,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T00:00:00Z","timestamp":1776816000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    Floating-Harbor syndrome (FLHS) is a rare neurodevelopmental and skeletal disorder caused by truncating variants in exons 33 and 34 of the\n                    <jats:italic>SRCAP<\/jats:italic>\n                    gene. It is characterized by distinctive facial features, delayed bone age, short stature, and moderate intellectual disability. While digital anomalies have been reported in approximately half of the more than 100 known cases, the phenotypic spectrum continues to expand. Here, we describe a family in which two individuals were identified with FLHS. Both the proband and her mother presented with typical manifestations, including classic facial dysmorphism, short stature, intellectual disability, brachydactyly, and clinodactyly. Moreover, the proband exhibited a novel combination of polydactyly and syndactyly affecting the right fifth and sixth toes, a feature previously unreported in FLHS. Additionally, she had complications including anemia, feeding difficulties, recurrent infections, epilepsy, and thrombosis. Whole-exome sequencing identified a heterozygous\n                    <jats:italic>SRCAP<\/jats:italic>\n                    c.7330C&amp;gt;T (p.Arg2444Ter) mutation in both affected individuals. The proband also harbored compound heterozygous mutations in\n                    <jats:italic>MMACHC<\/jats:italic>\n                    (c.609G&amp;gt;A\/p.Trp203Ter and c.565C&amp;gt;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.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2026.1761836","type":"journal-article","created":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T22:10:30Z","timestamp":1776809430000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Polydactyly and syndactyly in a Chinese family with Floating-Harbor syndrome: an expansion of the clinical phenotype"],"prefix":"10.3389","volume":"17","author":[{"given":"Junxiang","family":"Tang","sequence":"first","affiliation":[{"name":"Department of Medical Genetic, Anhui Women and Children\u2019s Medical Center, Affiliated Maternity and Child Health Hospital of Anhui Medical University","place":["Hefei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanhong","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Medical Genetic, Anhui Women and Children\u2019s Medical Center, Affiliated Maternity and Child Health Hospital of Anhui Medical University","place":["Hefei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daoqi","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetic, Anhui Women and Children\u2019s Medical Center, Affiliated Maternity and Child Health Hospital of Anhui Medical University","place":["Hefei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaohong","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetic, Anhui Women and Children\u2019s Medical Center, Affiliated Maternity and Child Health Hospital of Anhui Medical University","place":["Hefei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaohua","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China","place":["Hefei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiansheng","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Reproductive, Anhui Women and Children\u2019s Medical Center, Affiliated Maternity and Child Health Hospital of Anhui Medical University","place":["Hefei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,4,22]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"e1549","DOI":"10.1097\/GOX.0000000000001549","article-title":"Genetic overview of syndactyly and polydactyly","volume":"5","author":"Ahmed","year":"2017","journal-title":"Plastic Reconstructive Surgery Glob. 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