Abstract
Objective: To present the case of a patient with Apert Syndrome, her trajectory through the health system, the role of primary health care in its rescue and monitoring. Case details: Child, female, born in May, 2017, second pregnancy of a non-consanguineous couple. Born by cesarean section; full-term; small for gestational age and low weight; she had brachycephaly, high forehead, flat face, malar hypoplasia, low-set ears, ocular hypertelorism, slanting eyelid slits, proptosis, small nose with anteverted nares, ogival palate, short neck, syndactyly in hands and feet; without other apparent dysmorphisms. In view of the difficulties of access, the family lost the follow-up, resumed through the extended welcoming provided by home visits, with the contribution of the insertion of medical students in the health team. The child underwent surgical correction of syndactyly of the hands in a philanthropic hospital, with excellent surgical and functional results. Final considerations: The limited resources imposed on the Unified Health System restrict health teams within basic units, due to the high demand and low human resources, making it even more difficult to maintain coordination and continuity of care for patients with rare diseases.
