同时伴发HD、小头畸形、精神发育延滞及面部异常（眼距过宽、球形角膜、眉毛过浓及耳前倾等），是一类与EDNRB基因305位点色氨酸突变有关的综合征；伴发HD的先天性通气不足综合征（原发性肺泡换气不足，Haddad综合征）可能与GDVF和RET基因突变的不完全外显率相关，文献报道161例原发性肺泡换气不足综合征患儿有27%伴发HD；Ⅱ型多发性内分泌瘤（MEN-Ⅱ）同时发生甲状腺髓样癌、嗜铬细胞瘤及多发性黏液瘤，偶有伴发HD。
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