Sensenbrenner syndrome is a very rare autosomal recessive disorder caused by variants in genes involved in the functional development of primary cilia. Typical clinical manifestations include craniofacial and skeletal abnormalities, hence the alternative name cranioectodermal dysplasia. Chronic kidney disease due to progressive tubulointerstitial nephritis (nephronophthisis) has been described in these patients. The authors present 2siblings with severe anorexia, failure to thrive, chronic kidney disease, and angel-shaped middle phalanges. Two previously described variants p.(Leu641*) and p.(Asp841Val) were identified in the WDR35 gene which is most commonly affected in this condition. Analysis of all coding exons of the GDF5 gene was normal. This is the first report of Sensenbrenner syndrome presenting with severe anorexia and failure to thrive at early age. Angel-shaped middle phalanges in the absence of the GDF5 variant may represent an overlapping phenotypic manifestation of ciliopathy.
Mol Syndromol

中文翻译：

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Sensenbrenner 综合征表现为严重厌食、发育迟缓、慢性肾脏疾病和两个兄弟姐妹的天使形中指骨

Sensenbrenner 综合征是一种非常罕见的常染色体隐性遗传病，由参与初级纤毛功能发育的基因变异引起。典型的临床表现包括颅面和骨骼异常，因此也称为颅外胚层发育不良。已经在这些患者中描述了由进行性肾小管间质性肾炎（肾炎）引起的慢性肾脏疾病。作者介绍了 2 个患有严重厌食、发育迟缓、慢性肾病和天使形中指骨的兄弟姐妹。在WDR35基因中发现了两个先前描述的变体 p.(Leu641*) 和 p.(Asp841Val)，该基因在这种情况下最常受到影响。分析GDF5的所有编码外显子基因正常。这是 Sensenbrenner 综合征的第一份报告，表现为严重的厌食症和幼年发育不良。不存在GDF5变体的天使形中指骨可能代表纤毛病的重叠表型表现。
摩尔综合征