脂肪代谢异常-智力残疾-耳聋综合征
Lipodystrophy-intellectual disability-deafness syndrome
ORPHA:50811疾病
定义 英文原文（暂无中文）
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.
别名
脂质营养不良-智力障碍-听力丧失综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
临床表型 13
极常见 99–80%13
- 干骺端致密带 HP:0100959
- 发育迟滞 HP:0001508
- 全身脂肪营养不良 HP:0009064
- 全面发育迟缓 HP:0001263
- 智力障碍 HP:0001249
- 胎儿宫内发育迟缓 HP:0001511
- 骨质减少 HP:0000938
- 早衰面容 HP:0005328
- 感音神经性听力受损 HP:0000407
- 身材矮小 HP:0004322
- 修长的身材 HP:0001533
- 长骨细长伴骨干狭窄 HP:0004993
- 小于胎龄儿 HP:0001518
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）