Orofaciodigital syndrome (OFD) can have variable phenotype and presents with oral anomalies, facial dysmorphism, and digital malformations like syndactyly, and polydactyly. Other presentations also include renal and cardiac defects, and central nervous system anomalies like hydrocephalus and cerebellar abnormalities. OFD1 is a X‐linked dominant form of the syndrome presenting in females with mutations in CXorf5 or OFD1 gene. We describe a young child with sparse hairs, milia over face and absence of corpus callosum. Next generation sequencing showed frameshift pathogenic variant in the exon 13 of the OFD1 gene, consistent with diagnosis of OFD1.

中文翻译：

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印度儿童在OFD1基因中具有新型变异。

Orofaciodigital综合征（OFD）可以具有可变的表型，并表现为口腔异常，面部畸形和象畸形和多指畸形的数字畸形。其他表现还包括肾脏和心脏缺陷，以及中枢神经系统异常，如脑积水和小脑异常。OFD1是该综合征的X连锁显性形式，存在于具有CXorf5或OFD1基因突变的女性中。我们描述了一个头发稀疏，脸上有m毛且没有体的幼儿。下一代测序显示OFD1基因第13外显子的移码致病变异，与OFD1的诊断一致。