We report on a multiply consanguineous Syrian family where two siblings, a boy and a girl, presented with a compilation of symptoms including developmental delay, severe intellectual disability, absent speech, hearing impairment, short stature, subglottic stenosis, increased length of the palpebral fissures, onychodysplasia of index fingers, scoliosis, genu valgum, and malpositioned toes. Two other individuals from the extended family with similar clinical features are also described. Array‐CGH did not reveal any pathological copy number variation. Exome sequencing failed to find any causal variants. Differential diagnoses and the possibility that we might be reporting a hitherto unknown syndrome are discussed.

中文翻译：

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发育迟缓，智力障碍，身材矮小，声门下狭窄，听力障碍，食指甲样增生和独特的面部特征：新近报道的常染色体隐性遗传综合症。

我们报道了一个多血缘的叙利亚家庭，两个兄弟姐妹，一个男孩和一个女孩，出现了一系列症状，包括发育迟缓，严重智力残疾，言语缺失，听力障碍，身材矮小，声门下狭窄，睑裂长度增加，食指的甲癣，脊柱侧弯，膝外翻和脚趾错位。还描述了来自大家庭的另外两名具有相似临床特征的个体。Array-CGH未显示任何病理拷贝数变异。外显子组测序未能发现任何因果变异。讨论了鉴别诊断以及我们可能报告迄今未知的综合征的可能性。