早衰综合征，Petty型
Progeroid syndrome, Petty type
ORPHA:2963疾病亚型
定义 英文原文（暂无中文）
Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.
别名
Petty-Laxova-Wiedemann 综合征
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SLC25A24 | solute carrier family 25 member 24 | Disease-causing germline mutation(s) in |
临床表型 28
极常见 99–80%28
- 皮纹异常 HP:0007477
- 指（趾）甲形态异常 HP:0001597
- 毛发形态异常 HP:0001595
- 毛发干枯 HP:0002299
- 宽前额 HP:0000337
- 皮肤松弛症 HP:0000973
- 颅骨骨化减少 HP:0004331
- 内眦赘皮 HP:0000286
- 下唇唇红外翻 HP:0000232
- 发育迟滞 HP:0001508
- 全身性多毛症 HP:0002230
- 胎儿宫内发育迟缓 HP:0001511
- 脂肪萎缩 HP:0100578
- 不规则排列的长睫 HP:0007740
- 下颌前突 HP:0000303
- 后旋耳 HP:0000358
- 早衰面容 HP:0007495
- 皮下脂肪组织减少 HP:0003758
- 赘肉 HP:0001582
- 鲨鱼皮样斑 HP:0009721
- 末节指骨短 HP:0009882
- 身材矮小 HP:0004322
- 毛发稀疏 HP:0008070
- 斜视 HP:0000486
- 眉毛浓密 HP:0000574
- 牙齿发育不全 HP:0009804
- 脐疝 HP:0001537
- 前囟增宽 HP:0000260
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）