Floating-Harbor syndrome (FHS) is a rare autosomal dominant genetic disorder characterized by proportionate short stature with delayed bone maturation, lack of expressive language, and distinctive facial features including a large nose, long eyelashes, deeply set eyes, and triangular face. Mutations in the SRCAP gene cause truncated SNF2-related CREBBP activator protein (SRCAP) and lead to FHS. SRCAP is one of several proteins that act as coactivator for the CREB-binding protein which is associated with Rubinstein-Taybi syndrome (RSTS). This condition likely explains the phenotypic overlap between FHS and RSTS. Herein, we report on a patient with FHS who also had dystrophic toenails, preauricular skin tag, and nasolacrimal duct obstruction which is also defined in patients with RSTS. In summary, the fact that especially nasolacrimal duct obstruction has also been observed in RSTS reinforces the idea that this finding is one of the features of FHS. Assessment of the lacrimal system and examination of skin and nails should be suggested in patients with FHS.
Mol Syndromol

中文翻译：

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浮港综合症的新发现和文献综述

浮港综合征（FHS）是一种罕见的常染色体显性遗传病，其特征是身材矮小，骨成熟延迟，缺乏表达性语言，以及独特的面部特征，包括大鼻子、长睫毛、深陷的眼睛和三角脸。SRCAP 中的突变基因导致截短的 SNF2 相关 CREBBP 激活蛋白 (SRCAP) 并导致 FHS。SRCAP 是作为与 Rubinstein-Taybi 综合征 (RSTS) 相关的 CREB ​​结合蛋白的共激活剂的几种蛋白质之一。这种情况可能解释了 FHS 和 RSTS 之间的表型重叠。在此，我们报告了一名 FHS 患者，该患者也有营养不良的脚趾甲、耳前皮赘和鼻泪管阻塞，这也在 RSTS 患者中定义。总之，特别是在 RSTS 中也观察到了鼻泪管阻塞这一事实强化了这一发现是 FHS 特征之一的观点。建议 FHS 患者进行泪道系统评估和皮肤和指甲检查。
摩尔综合征