身材矮小-颅面畸形-生殖器发育不良综合征
Short stature-craniofacial anomalies-genital hypoplasia syndrome
定义 英文原文（暂无中文）
A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability, short stature, hypogonadism, and distinct facial dysmorphism (including trigonocephaly, prominent forehead, asymmetric and flat face, hypertelorism, epicanthus, downslanting palpebral fissures, ptosis, low-set angulated ears, small mouth, high-arched/cleft palate crowded teeth, microretrognathia), as well as slender hands and/or feet. Variable additional features may include pterygia, hypoplastic nipples, cardiac anomaly, distal muscular wasting, limb contractures, skeletal anomalies (e.g. scoliosis, pectus excavatum, bilateral clubfeet), hypothyroidism, seizures, and cerebral anomalies. Puberty may be delayed.
别名
Haspeslagh-Fryns-Muelenaere综合征
基本事实
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 28
极常见 99–80%13
- 视网膜脉管形态异常 HP:0008046
- 羊膜带狭窄环 HP:0009775
- 青春期发育延迟 HP:0000823
- 内眦赘皮 HP:0000286
- 扁平脸 HP:0012368
- 前额突出 HP:0002007
- 高度远视 HP:0008499
- 智力障碍 HP:0001249
- 下颌小且后移 HP:0000308
- 小耳畸形 HP:0008551
- 后旋耳 HP:0000358
- 身材矮小 HP:0004322
- 三角头畸形 HP:0000243
常见 79–30%10
- 心血管系统形态异常 HP:0030680
- 牙列异常 HP:0000164
- 细长指(趾) HP:0001166
- 腭裂 HP:0000175
- 手指并指 HP:0006101
- 眼距过宽 HP:0000316
- 甲状腺功能减退症 HP:0000821
- 关节活动受限 HP:0001376
- 小头畸形 HP:0000252
- 短颈 HP:0000470
偶见 29–5%5
- 手指弯曲 HP:0100490
- 下斜睑裂 HP:0000494
- 肛门异位 HP:0004397
- 末节指骨短 HP:0009882
- 三指节拇指 HP:0001199
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）