Peters Plus综合征
Peters plus syndrome
定义 英文原文（暂无中文）
Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.
别名
Peters畸形伴短肢侏儒
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| B3GLCT | beta 3-glucosyltransferase | Disease-causing germline mutation(s) in |
临床表型 83
极常见 99–80%22
- 前房粘连 HP:0007833
- 短头畸形 HP:0000248
- 短指（趾） HP:0001156
- 第五指屈指畸形 HP:0004209
- 角膜混浊 HP:0007957
- 不相称的短肢矮小 HP:0008873
- 夸张的丘比特唇弓 HP:0002263
- 青光眼 HP:0000501
- 全面发育迟缓 HP:0001263
- 智力障碍 HP:0001249
- 胎儿宫内发育迟缓 HP:0001511
- 长脸 HP:0000276
- 长人中 HP:0000343
- 小下颌 HP:0000347
- 短肢 HP:0002983
- Peters 综合征 HP:0000659
- 圆脸 HP:0000311
- 鼻小柱短小 HP:0002000
- 短足 HP:0001773
- 短颈 HP:0000470
- 短趾 HP:0001831
- 薄上唇红 HP:0000219
常见 79–30%27
- 心脏间隔异常 HP:0001671
- 肺动脉异常 HP:0004414
- 视力异常 HP:0000504
- 白内障 HP:0000518
- 腭裂 HP:0000175
- 上唇裂 HP:0000204
- 隐睾 HP:0000028
- 胎动减少 HP:0001558
- 婴儿期喂养困难 HP:0008872
- 前额突出 HP:0002007
- 脑积水 HP:0000238
- 眼距过宽 HP:0000316
- 尿道下裂 HP:0000047
- 小角膜 HP:0000482
- 小耳畸形，2级 HP:0008569
- 眼球震颤 HP:0000639
- 出生后生长迟缓 HP:0008897
- 耳前凹陷 HP:0004467
- 耳前皮赘 HP:0000384
- 前额中央突出 HP:0011220
- 肺动脉瓣狭窄 HP:0001642
- 短睑裂 HP:0012745
- 身材矮小 HP:0004322
- 并趾 HP:0001770
- 睑裂上斜 HP:0000582
- 蹼颈 HP:0000465
- 牙间隙增宽 HP:0000687
偶见 29–5%31
- 肛门闭锁 HP:0002023
- 垂体前叶功能减退症 HP:0000830
- 鼻孔前翻 HP:0000463
- 胼胝体发育缺陷/发育不全 HP:0007370
- 大脑皮层萎缩 HP:0002120
- 阴蒂发育不良 HP:0000060
- 传导性听力受损 HP:0000405
- 先天性甲状腺功能减退症 HP:0000851
- 鼻梁塌陷 HP:0005280
- 肾积水 HP:0000126
- 子宫发育不良 HP:0000013
- 腹股沟疝 HP:0000023
- 肠瘘 HP:0100819
- 小头畸形 HP:0000252
- 多囊性肾发育不良 HP:0000003
- 视神经萎缩 HP:0000648
- 动脉导管未闭 HP:0001643
- 羊水过多 HP:0001561
- 后旋耳 HP:0000358
- 肾重复 HP:0000075
- 肾发育不良/不全 HP:0008678
- 肢体近端缩短 HP:0008905
- 骶骨浅窝 HP:0000960
- 短鼻 HP:0003196
- 隐性脊柱裂 HP:0003298
- 脐疝 HP:0001537
- 输尿管重复 HP:0000073
- 巨脑室 HP:0002119
- 视觉障碍 HP:0000505
- 乳头间距宽 HP:0006610
- 宽嘴 HP:0000154
罕见 <4–1%3
- 肺静脉畸形 HP:0030968
- 二叶肺动脉瓣 HP:0005182
- 左心发育不全 HP:0004383
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）