Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients
Authors' conclusion
This study expands the clinical and molecular spectrum of FGFR3-related HCH and underscores its genetic and phenotypic heterogeneity.
Study context
- Population
- Individuals from 14 families with heterozygous FGFR3 variants confirmed by clinical exome and/or Sanger sequencing; 13 females, 10 males, aged 1.95 to 50.4 years14 families
- Participants
- 23 individuals
- Exposure
- Pathogenic or likely pathogenic variants vs Variants of uncertain significance or variants with uncertain skeletal relevance
- Pathogenic or likely pathogenic variantsn = 18
- Variants of uncertain significance or variants with uncertain skeletal relevancen = 5
- Outcome
- Clinical, radiological and molecular characteristics
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
Disproportionate short stature (patients with available data)
59.1%
Macrocephaly or relative macrocephaly (patients with available data)
40.9%
Distinct FGFR3 variants identified, most commonly p.(Asn540Ser) and p.(Asn540Lys)
8
Craniosynostosis in patient with p.(Asn540Lys)
1
Observational data: associations, not effects.
Original publication
Refining the Hypochondroplasia Phenotypic Continuum: Genetic, Endocrine, and Radiological Findings in 23 Patients. Horm Res Paediatr. Published 11 September 2026. doi:10.
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