Acromelic frontonasal dysostosis (AFND; MIM #603671) is a rare autosomal dominant genetic disorder caused by a heterozygous mutation in the ZSWIM6 (KIAA1577) gene located at chromosome 5q12.1. It is phenotypically characterized by frontonasal malformation with hypertelorism, telecanthus, nasal clefting or bifid nasal tip, wide fontanels and sutures, brachycephaly, and cleft palate. The patients also present with central nervous system malformations such as encephalocele, agenesis of the corpus callosum, or interhemispheric lipoma. Limb malformations can also be found, including preaxial polydactyly of the feet and sometimes postaxial polydactyly of the hands, talipes equinovarus, or tibia malformations. Here, we present a case of early prenatal diagnosis of AFND with ultrasound and necropsy images which show the phenotypic findings of this syndrome.
Mol Syndromol

中文翻译：

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肩峰型额鼻骨发育不良的产前诊断

顶峰性额鼻骨发育不良 (AFND; MIM #603671) 是一种罕见的常染色体显性遗传病，由ZSWIM6 ( KIAA1577)杂合突变引起) 基因位于染色体 5q12.1。它的表型特征为额鼻畸形伴眼距过宽、长绦虫、鼻裂或鼻尖分叉、囟门和缝线宽、短头畸形和腭裂。患者还表现为中枢神经系统畸形，如脑膨出、胼胝体发育不全或半球间脂肪瘤。还可以发现四肢畸形，包括脚的轴前多指畸形，有时手的轴后多指畸形、马蹄内翻或胫骨畸形。在这里，我们展示了一个 AFND 早期产前诊断的案例，超声和尸检图像显示了该综合征的表型结果。
摩尔综合征