频发性无软骨生成
Pyknoachondrogenesis
ORPHA:3003疾病
定义 英文原文（暂无中文）
A rare lethal chondrodysplasia characterized by severe generalized osteosclerosis. Main clinical manifestations include large head, palpebral edema, flat nose, low-set ears, hexagon-like mouth, a short neck (hidden by skin folds), a short and wide trunk, a prominent abdomen, and severe micromelic dwarfism with rather normal-length hands and feet. X-rays show marked sclerosis of the facial bones and extremities, and poor ossification elsewhere. It has a lethal outcome, either prenatally or during the early neonatal period. There have been no further descriptions in the literature since 1986.
别名
卡梅拉氏综合征
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
临床表型 23
常见 79–30%23
- 腹胀 HP:0003270
- 膜内骨化异常 HP:0012790
- 嘴形异常 HP:0011338
- 髂骨翼形态异常 HP:0011867
- 耻骨再生障碍 HP:0008817
- 颅面骨骨质增生 HP:0004493
- 鼻嵴凹陷 HP:0000457
- 胸廓扩张 HP:0100625
- 横位肋骨 HP:0000888
- 坐骨发育不全 HP:0003175
- 头围增加 HP:0040194
- 低位耳 HP:0000369
- 短肢 HP:0002983
- 肌肉水肿 HP:0100748
- 眼睑水肿 HP:0100540
- 椎骨骨化不良 HP:0100856
- 颅底硬化 HP:0002694
- 短髂骨 HP:0100866
- 长骨短 HP:0003026
- 短肋 HP:0000773
- 胸部短小 HP:0010306
- 骶骨未骨化 HP:0030290
- 蹼颈 HP:0000465
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）