Mandibulofacial dysostosis with microcephaly (MFDM) is due to haploinsufficiency of spliceosomal GTPase EFTUD2. Features include microcephaly, craniofacial dysmorphology, developmental disability, and other anomalies. We surveyed parents of individuals with MFDM to expand knowledge about health, development, and parental concerns. Participants included attendees of the inaugural MFDM family conference in June 2019 and members of the MFDM online group. To explore MFDM variable expressivity, we offered targeted Sanger sequencing for untested parents. Forty‐seven parents participated in the survey. 59% of individuals with MFDM were male, with mean age 6.4 years (range 8 months to 49 years). Similar to the literature (n = 123), common features include microcephaly, cleft palate, choanal stenosis, tracheoesophageal fistula, heart problems, and seizures. New information includes airway intervention details, age‐based developmental outcomes, rate of vision refractive errors, and lower incidences of prematurity and IUGR. Family concerns focused on development, communication, and increased support. Targeted Sanger sequencing for families of seven individuals demonstrated de novo variants, for a total of 91.9% de novo EFTUD2 variants (n = 34/37). This study reports the largest single cohort of individuals with MFDM, expands phenotypic spectrum and inheritance patterns, improves understanding of developmental outcomes and care needs, and identifies development as the biggest concern for parents.

中文翻译：

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下颌面骨发育不良伴小头畸形：通过父母调查扩大表型

下颌面骨发育不良伴小头畸形 (MFDM) 是由于剪接体 GTPase EFTUD2 的单倍体不足所致。特征包括小头畸形、颅面畸形、发育障碍和其他异常。我们调查了 MFDM 患者的父母，以扩展有关健康、发育和父母关注的知识。参与者包括 2019 年 6 月首届 MFDM 家庭会议的与会者和 MFDM 在线小组的成员。为了探索 MFDM 变量的表达能力，我们为未经测试的父母提供了有针对性的 Sanger 测序。47 位家长参与了调查。59% 的 MFDM 患者为男性，平均年龄 6.4 岁（范围 8 个月至 49 岁）。类似于文献（n= 123)，常见特征包括小头畸形、腭裂、后鼻孔狭窄、气管食管瘘、心脏问题和癫痫发作。新信息包括气道干预细节、基于年龄的发育结果、视力屈光不正率以及早产和 IUGR 发生率的降低。家庭关注的重点是发展、沟通和增加支持。七个人家庭的靶向 Sanger 测序证明了 de novo 变异，总共 91.9% de novo EFTUD2变异 ( n = 34/37)。这项研究报告了最大的 MFDM 个体队列，扩展了表型谱和遗传模式，提高了对发育结果和护理需求的理解，并将发育确定为父母最关心的问题。