胎儿酒精谱系障碍

孕期母亲有服用苯妥英史。

鼻梁塌陷并且有朝天鼻（上唇弓形）。[39]National Center on Birth Defects and Developmental Disabilities. Fetal alcohol syndrome: guidelines for referral and diagnosis. Atlanta, GA: Centers for Disease Control and Prevention; 2004.http://www.cdc.gov/ncbddd/fasd/documents/FAS_guidelines_accessible.pdf[56]Jones KL. Smith's recognizable patterns of human malformation. 5th ed. Sydney, NSW: WB Saunders; 1997.

没有鉴别检测；诊断基于病史和体检。

母亲孕期有服用丙戊酸史。

前额突、眼眶下折痕或凹槽、小嘴巴以及双额直径窄。[39]National Center on Birth Defects and Developmental Disabilities. Fetal alcohol syndrome: guidelines for referral and diagnosis. Atlanta, GA: Centers for Disease Control and Prevention; 2004.http://www.cdc.gov/ncbddd/fasd/documents/FAS_guidelines_accessible.pdf[56]Jones KL. Smith's recognizable patterns of human malformation. 5th ed. Sydney, NSW: WB Saunders; 1997.

没有鉴别检测；诊断基于病史和体检。

母亲孕期有甲苯暴露史。

前囟门大，嘴角下翻，头发分布异常而且耳朵畸形。[19]Pearson MA, Hoyme HE, Seaver LH, et al. Toluene embryopathy: delineation of the phenotype and comparison with fetal alcohol syndrome. Pediatrics. 1994;93:211-215.http://www.ncbi.nlm.nih.gov/pubmed/7510061?tool=bestpractice.com[39]National Center on Birth Defects and Developmental Disabilities. Fetal alcohol syndrome: guidelines for referral and diagnosis. Atlanta, GA: Centers for Disease Control and Prevention; 2004.http://www.cdc.gov/ncbddd/fasd/documents/FAS_guidelines_accessible.pdf

没有鉴别检测；诊断基于病史和体检。

宽嘴巴（厚嘴唇）、星形虹膜，多话（健谈）而且有肌骨骼和心脏问题。[39]National Center on Birth Defects and Developmental Disabilities. Fetal alcohol syndrome: guidelines for referral and diagnosis. Atlanta, GA: Centers for Disease Control and Prevention; 2004.http://www.cdc.gov/ncbddd/fasd/documents/FAS_guidelines_accessible.pdf[56]Jones KL. Smith's recognizable patterns of human malformation. 5th ed. Sydney, NSW: WB Saunders; 1997.[57]Williams Syndrome Association. What is Williams syndrome? http://www.williams-syndrome.org/what-is-williams-syndrome (last accessed 28 December 2016).http://www.williams-syndrome.org/what-is-williams-syndrome

荧光原位杂交显示在7号染色体7q11.23区域中的弹力蛋白等位基因缺失。

血清钙水平提高（高钙血症）。

根据超声心动图，主动脉瓣狭窄，肺动脉狭窄或肺周围动脉瓣狭窄

一条单独的浓密的眉毛（连眉），长的眼睫毛、嘴角下垂、拱形颚，四肢短小或粗大。[39]National Center on Birth Defects and Developmental Disabilities. Fetal alcohol syndrome: guidelines for referral and diagnosis. Atlanta, GA: Centers for Disease Control and Prevention; 2004.http://www.cdc.gov/ncbddd/fasd/documents/FAS_guidelines_accessible.pdf[56]Jones KL. Smith's recognizable patterns of human malformation. 5th ed. Sydney, NSW: WB Saunders; 1997.

基因分析显示NIPBL和SMC1A基因突变。

小的朝天鼻，圆脸而且印堂明显。[39]National Center on Birth Defects and Developmental Disabilities. Fetal alcohol syndrome: guidelines for referral and diagnosis. Atlanta, GA: Centers for Disease Control and Prevention; 2004.http://www.cdc.gov/ncbddd/fasd/documents/FAS_guidelines_accessible.pdf[56]Jones KL. Smith's recognizable patterns of human malformation. 5th ed. Sydney, NSW: WB Saunders; 1997.

母亲苯基丙氨酸升高；

遗传分析发现众多的突变之一，是在编码苯丙氨酸羟化酶的12号染色体q22-24.1区域中有羟化酶。