Three cases of Omodysplasia in a family from a remote rural district: an approach based on cultural competence in Primary Health Care

Abstract

Objective: To describe three cases of Omodysplasia in members of the same family residing in a remote rural community, analyzing the role of cultural competence in Primary Health Care (PHC) in this context. Case details: Three individuals from different generations presented disproportionate short stature, limb shortening, and radiological findings consistent with skeletal dysplasia. Molecular investigation identified biallelic homozygous variants in the GPC6 gene, confirming the diagnosis of autosomal recessive Omodysplasia. The cases occurred in a context of culturally valued consanguinity, characteristic of relative population isolation. The patients exhibit preserved neurocognitive development and remain under longitudinal follow-up in PHC, receiving multidisciplinary support, clinical monitoring, and family genetic counseling. Final considerations: The identification of three cases of Omodysplasia within a single family highlights the strategic role of PHC in detecting and monitoring rare genetic conditions, which are uncommon in the general population but may be more frequent in isolated populations marked by consanguinity. In such settings, heightened clinical awareness of familial aggregation and increased relative occurrence of rare genetic diseases is essential. The incorporation of cultural competence proved fundamental for establishing trust, understanding local practices, and building shared care strategies.