This article reports the present situation of Brazilian health care in genetics for Orofacial Cleft (OFC) and 22q11.2 Deletions Syndrome (22q11.2 DS) based on research conducted by Brazil's Craniofacial Project (BCFP). Established in 2003, BCFP is a voluntary and cooperative network aiming to investigate the health care of people with these diseases and other craniofacial anomalies. The initiatives and research results are presented in four sections: (a) a comprehensive report of the Brazilian public health system in craniofacial genetics; (b) multicentric studies developed on OFC and 22q11.2 DS; (c) education strategies focused on addressing these conditions for both population and health‐care professionals; and (d) the nosology through the Brazilian Database on Craniofacial Anomalies (BDCA). Since 2006, BDCA uses a standardized method with detailed clinical data collection, which allows for conducting studies on nosology, genotype–phenotype correlations, and natural history; data can also contribute to public policies. Currently, the BDCA stores data on 1,724 individuals, including 1,351 (78.36%) who were primarily admitted due to OFC and 373 (21.63%) with clinical suspicion of 22q11.2 DS. Chromosomal abnormalities/genomic imbalances were represented by 92/213 (43.19%) individuals with syndromic OFC, including 43 with 22q11.2 DS, which indicates the need for chromosomal microarray analysis in this group. The nosologic diversity reinforces that monitoring clinical is the best strategy for etiological investigation. BCFP's methodology has introduced the possibility of increasing scientific knowledge and genetic diagnosis of OFC and 22q11.2 DS to in turn improve health care and policies for this group of diseases.

中文翻译：

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巴西颅面项目：不同方法治疗口面部裂隙和 22q11.2 缺失综合征

本文根据巴西颅面项目 (BCFP) 进行的研究，报告了巴西对口面部裂 (OFC) 和 22q11.2 缺失综合征 (22q11.2 DS) 遗传学的医疗保健现状。BCFP 成立于 2003 年，是一个自愿合作网络，旨​​在调查患有这些疾病和其他颅面异常的人的医疗保健。倡议和研究结果分为四个部分： (a) 巴西公共卫生系统在颅面遗传学方面的综合报告；(b) 对 OFC 和 22q11.2 DS 开展的多中心研究；(c) 侧重于解决人口和保健专业人员的这些状况的教育战略；(d) 通过巴西颅面异常数据库 (BDCA) 进行的疾病分类。自 2006 年以来，BDCA 使用具有详细临床数据收集的标准化方法，允许对疾病分类学、基因型-表型相关性和自然史进行研究；数据还可以为公共政策做出贡献。目前，BDCA 存储了 1,724 人的数据，其中主要因 OFC 入院的 1,351 人（78.36%）和临床怀疑 22q11.2 DS 的 373 人（21.63%）。染色体异常/基因组失衡由 92/213 (43.19%) 名患有 OFC 综合征的个体代表，其中 43 名患有 22q11.2 DS，这表明该组需要进行染色体微阵列分析。病理学多样性强调监测临床是病因学调查的最佳策略。BCFP 的方法引入了增加 OFC 和 22q11 的科学知识和基因诊断的可能性。