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March 21, 2026Journal of Rare DiseasesOpen Access

Mesoaxial synostotic syndactyly with phalangeal reduction caused by same homozygous BHLHA9 variant in a non-consanguineous Indian couple

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Authors

PDPrashanth Rao DhareneniFernandez HospitalRRR. Sahithi RathodFernandez HospitalGSG Satya SriAdvanced Numerical Research and Analysis Group

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Implication

Case report identifies mesoaxial synostotic syndactyly in a couple, suggesting genetic testing is crucial for rare malformations.

Key Points

  • To highlight a rare case of mesoaxial synostotic syndactyly linked to a homozygous BHLHA9 variant.
  • Evaluated a non-consanguineous couple with syndactyly and oligodactyly.
  • Performed detailed clinical examination and radiographic assessment of limb abnormalities.
  • Conducted whole-exome sequencing and variant interpretation according to ACMG/AMP guidelines.
  • Identified a homozygous likely pathogenic variant in BHLHA9 (c.252_270delinsGCA) associated with MSSD.
  • The identified frameshift variant is predicted to disrupt normal protein function.
  • This variant has been documented in affected individuals from a consanguineous Pakistani family.

Cite This Study

Dhareneni et al. (2026) studied this question.

synapsesocial.com/papers/69be34f26e48c4981c673131https://doi.org/10.1007/s44162-026-00180-8
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction2020 · 3 citations
  2. 2Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly2021 · 4 citations
  3. 3A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family2017 · 11 citations
  4. 4Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?1998 · 18 citations
  5. 5Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders2016 · 15 citations