三角头畸形-矮小-发育迟缓综合征
Trigonocephaly-short stature-developmental delay syndrome
定义 英文原文（暂无中文）
A rare syndromic craniosynostosis characterized by trigonocephaly prominent metopic ridge, short stature, and developmental delay. Dysmorphic features may also include narrow forehead with bitemporal narrowing, arched eyebrows, deep-set eyes, epicanthal folds, hypotelorism, strabismus, wide nasal bridge, small pointed nose, anteverted nostrils, long philtrum, low-set ears, malar flattening, narrow mouth, thin lips, high-arched palate, crowded teeth, and micrognathia. Variable additional manifestations may include conductive hearing loss, cerebral (mainly involving the white matter), skeletal (including brachymesophalangy of the fifth fingers), cardiovascular and renal anomalies, inguinal hernia, hypospadias, and seizures. There have been no further descriptions in the literature since 1981.
别名
Say-Meyer综合征
基本事实
- 遗传方式
- 未知
- 发病年龄
- 无数据
- 患病率
- <1 / 1 000 000
临床表型 23
极常见 99–80%3
- 全面发育迟缓 HP:0001263
- 身材矮小 HP:0004322
- 三角头畸形 HP:0000243
常见 79–30%20
- 宽恒牙槽嵴 HP:0000216
- 凸鼻嵴 HP:0000444
- 内眦赘皮 HP:0000286
- 第五指末节指骨弯曲 HP:0005769
- 高腭 HP:0000218
- 眼距过窄 HP:0000601
- 腹股沟疝 HP:0000023
- 中度智力障碍 HP:0002342
- 额缝开放至鼻根 HP:0005495
- 多个颅缝早闭 HP:0011324
- 额头狭窄 HP:0000341
- 后旋耳 HP:0000358
- 出生后生长迟缓 HP:0008897
- 后囟门过早闭合 HP:0005494
- 继发性小头畸形 HP:0005484
- 癫痫发作 HP:0001250
- 小前囟 HP:0000237
- 小于胎龄儿 HP:0001518
- 室间隔缺损 HP:0001629
- 宽鼻梁 HP:0000431
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）