Dysplastic cortical hyperostosis, Al-Gazali type
ORPHA:646136疾病亚型暂无中文名
定义 英文原文（暂无中文）
A rare dysplastic cortical hyperostosis characterized by brachycephaly, short, poorly modeled tubular bones with wide diaphysis and smooth, rounded metaphyses, extremities with severe brachydactyly and facial dysmorphism (including flat face, hypertelorism and low-set ears). Additional clinical features include hypoplastic thorax and hypertrichosis. Histology of the bone tissue and the growth plate are normal. It is a lethal condition associated to severe fetal hydrops and polyhydramnios.
基本事实
- 遗传方式
- 常染色体隐性
临床表型 31
极常见 99–80%18
- 骨盆骨骨化异常 HP:0009106
- 耳廓形态异常 HP:0000377
- 短指（趾） HP:0001156
- 宽肋骨 HP:0000885
- 椎骨骨化延迟 HP:0031096
- 鼻梁塌陷 HP:0005280
- 周身性骨硬化 HP:0005789
- 眼距过宽 HP:0000316
- 大囟门 HP:0000239
- 肢体发育不良 HP:0009826
- 羊水过多 HP:0001561
- 相对大头畸形 HP:0004482
- 第一掌骨短 HP:0010034
- 短指畸形 HP:0009381
- 短足 HP:0001773
- 短颈 HP:0000470
- 短趾 HP:0001831
- 小手 HP:0200055
常见 79–30%11
- 胎儿水肿 HP:0001789
- 多毛症 HP:0000998
- 胎儿宫内发育迟缓 HP:0001511
- 关节僵硬 HP:0001387
- 面中部后缩 HP:0011800
- 扁平椎 HP:0000926
- 肺发育不良 HP:0002089
- 肺动脉瓣狭窄 HP:0001642
- 马蹄内翻足 HP:0001762
- 皮肤增厚 HP:0001072
- 薄上唇红 HP:0000219
偶见 29–5%2
- 腓骨发育不良 HP:0003038
- 缝间骨 HP:0002645
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；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）