A 14-month-old girl named Valentina, from Sydney, received a diagnosis of Hyaline Fibromatosis Syndrome, marking the first known case ever documented in Australia. Fewer than 200 individuals worldwide have ever received this diagnosis.
Her condition belongs to the rare genetic disorder group known as Hyaline Fibromatosis Syndrome (HFS). This autosomal recessive disorder arises from inherited mutations in both copies of the ANTXR2 gene. It manifests in infancy or at birth with features that include severe joint pain, progressive joint contractures, and thickened skin with nodules or papules. Affected individuals may also experience gut issues such as malabsorption and protein-losing enteropathy, especially in the severe form of the disorder.
Valentina’s parents noticed limited movement in her arms and legs in the weeks following her birth. Despite initial medical uncertainty, the family pursued genetic testing. Researchers in Perth confirmed that both parents carry the same gene mutation as their daughter, confirming her diagnosis in three months.
Valentina now participates as a research patient. She uses splints to stand. Her parents do not know if she will walk, but they report that her condition is stabilizing. No prior Australian cases exist, and medical literature offers little guidance on prognosis in such rare situations.
Hyaline Fibromatosis Syndrome includes two subtypes under its spectrum: Infantile Systemic Hyalinosis, which presents with widespread organ involvement and high early mortality, and Juvenile Hyaline Fibromatosis, which is generally milder. HFS affects connective tissue due to malfunction of the ANTXR2 gene, known also as CMG2. That gene helps maintain skin and tissue integrity and when disrupted, leads to abnormal hyaline material deposits in various tissues.
Clinical signs often include painful joint stiffness, nodules on skin or gums, perianal masses, and facial or scalp lesions. In more severe cases, gastrointestinal symptoms such as diarrhea and failure to thrive contribute to reduced survival, often in the first two years of life.
HFS has also been reported in India. A case published in the Karnataka Paediatric Journal described a 2-year-old boy in Bengaluru with Grade 2 HFS who presented with joint contractures, scalp nodules, gum enlargement, and growth failure. Despite being classified as a moderate case, the child died following a respiratory infection, showing that even non-severe forms can lead to serious complications.
Valentina’s family runs a sandwich shop called Dom Panino in Leichhardt, Sydney. She greets customers there, and community support has grown around her story. On Jeans for Genes Day, local customers helped raise over AUD 24,000 for genetic disease research, with donations matched by Lowes on August 7.
Valentina’s mother, Sara, emphasized the importance of awareness and fundraising, saying her daughter’s story should help others facing genetic conditions.
(Rh/Eth/MSM)