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Case report describes severe phenotype of a 3-year-old with juvenile hyaline fibromatosis syndrome, highlighting genotype–phenotype correlation in the ANTXR2 gene.
Hyaline fibromatosis syndrome (HFS) is an autosomal recessive disorder caused by variants in the ANTXR2 gene. Clinically, HFS is characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures, and bone involvement in variable degrees. In this report, we present a 3‐year‐old Syrian boy with HFS, detailing his clinical and genetic profile, furthering the understanding of genotype–phenotype correlation in the ANTXR2 gene and HFS.
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Akyon et al. (2025) studied this question.
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