缺舌-缺指综合征
Hypoglossia-hypodactyly syndrome
定义 英文原文（暂无中文）
A rare multiple congenital anomalies/dysmorphic syndrome characterized by hypoglossia, micrognathia and variable limb abnormalities. Limb defects can involve any limb (usually all four) and the severity may vary from the absence of distal phalanges to total absence of digits or limbs. Synbrachydactyly may also be present. Patients have problems with speech, swallowing and mastication, and they have additional craniofacial anomalies (including telecanthus, lower eyelid defects, broad nose, microstomia, variable clefting or aberrant attachments of tongue, mandibular hypodontia, cleft palate, cranial nerve palsies, and facial asymmetry). Gingival abnormalities are frequently observed. Intelligence and stature are generally normal.
别名
Aglossia-adactylia综合征
基本事实
- 遗传方式
- 未知
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 26
极常见 99–80%5
- 舌未发育/舌发育不全 HP:0010295
- 颧骨发育不良 HP:0010669
- 小下颌 HP:0000347
- 小口畸形 HP:0000160
- 上肢短肢畸形 HP:0009813
常见 79–30%11
- 指甲形态异常 HP:0001231
- 先天性无指 HP:0009776
- 手指发育不良/发育不全 HP:0006265
- 短指（趾） HP:0001156
- 腭裂 HP:0000175
- 手指并指 HP:0006101
- 缺牙症 HP:0000668
- 末节指骨短 HP:0009882
- 手劈裂 HP:0001171
- 内眦距过宽 HP:0000506
- 宽鼻梁 HP:0000431
偶见 29–5%10
- 颅神经形态异常 HP:0001291
- 异常言语模式 HP:0002167
- 肛门闭锁 HP:0002023
- 婴儿期夭折 HP:0001522
- 面部不对称 HP:0000324
- 婴儿期喂养困难 HP:0008872
- 腹裂 HP:0001543
- 高腭 HP:0000218
- 智力障碍 HP:0001249
- 空肠闭锁 HP:0005235
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）