Kaufman oculocerebrofacial syndrome is a rare autosomal recessive disorder caused by biallelic variants in UBE3B. Kaufman oculocerebrofacial syndrome is characterized by a recognizable pattern of malformations including moderate to severe intellectual disability, growth deficiency, microcephaly and a distinctive facial gestalt. Common craniofacial features include short upslanting palpebral fissures, blepharophimosis or ptosis, ear anomalies, hearing loss, palate anomalies and stridor/laryngomalacia. The aim of this study was to describe the phenotypic features and the genotype of five new individuals from three unrelated families, and to review systematically the published information of 26 cases. The main features are summarized contributing to further characterize the natural history of the disease. Novel phenotypic features and two novel pathogenic variants in UBE3B are reported: A splice site variant (c.2569-1G > C) and a nonsense variant (c.518C > A, p.Ser173Ter). Kaufman oculocerebrofacial syndrome is likely an underdiagnosed disorder which can be clinically recognized based on its distinctive facial gestalt and relatively homogenous natural history.

中文翻译：

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Kaufman眼脑面部综合征的进一步表型特征：五例新病例的报告和文献综述。

Kaufman眼脑血管综合征是一种罕见的常染色体隐性遗传疾病，由UBE3B中的双等位基因变异引起。考夫曼眼脑面部综合征的特征是可识别的畸形形式，包括中度至重度智力残疾，生长不足，小头畸形和独特的面部格式塔。常见的颅面特征包括短斜上睑裂，睑缘上垂或上睑下垂，耳朵异常，听力下降，上颚异常和喘鸣/喉头软化。这项研究的目的是描述来自三个无关家庭的五个新个体的表型特征和基因型，并系统地回顾26例的已发表信息。总结了主要特征，有助于进一步表征疾病的自然史。据报道，UBE3B具有新的表型特征和两个新的致病变异：一个剪接位点变异（c.2569-1G> C）和一个无意义变异（c.518C> A，p.Ser173Ter）。考夫曼眼脑血管综合征可能是一种诊断不足的疾病，根据其独特的面部格式塔和相对均一的自然病史可以在临床上加以识别。