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Several types of brachydactyly have been identified, each associated with different genetic mutations. However, some cases do not fit into existing classifications, necessitating further genetic investigation. A 34\u2010year\u2010old female patient with an absent middle phalanx in the second digit of her left foot and her 13\u2010year\u2010old son, who presented with absent or malformed middle and distal phalanx in all ten toes, are evaluated. Whole Genome Sequencing (WGS) analysis identifies a missense variant (c.1073A &gt;T; p.K358M) in the BMP8A gene and a novel missense variant (c.1787C &gt;T, p.Ser596Phe) in the FGFR1 gene. Functional protein association network analysis demonstrates a strong association of BMP8A and\u00a0FGFR1 with other brachydactyly disease\u2010causing genes. Given that these mutations have not been previously linked to any recognized brachydactyly subtype, they likely define a distinct genetic condition. The findings suggest a novel form of brachydactyly, which naming is proposed as brachydactyly type AB.<\/jats:p>","DOI":"10.1002\/ggn2.202500015","type":"journal-article","created":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T13:24:21Z","timestamp":1756992261000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Brachydactyly with Novel BMP8A and FGFR1 Variants: A Case Report with Review of Literature"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-5008-4883","authenticated-orcid":false,"given":"Luke","family":"Hunter","sequence":"first","affiliation":[{"name":"Private Practice Foot and Ankle Specialist  Monroe LA 71203 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0392-1775","authenticated-orcid":false,"given":"Muhammad","family":"Ilyas","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences 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