远端骨发育不良-色素缺陷综合征
Terminal osseous dysplasia-pigmentary defects syndrome
定义 英文原文（暂无中文）
A rare acromelic dysplasia characterized by abnormal and/or delayed ossification of bones primarily in the hands and feet (that may lead to brachydactyly, camptodactyly, and clinodactyly), severe limb deformities, joint contractures, pigmentary skin lesions on the face and scalp and digital fibromatosis of the fingers and toes which appear a few months after birth. While the skeletal manifestations primarily affect the hands and feet, more generalized bone involvement including mesomelic bowing and/or shortening of the arms and legs have also been reported. Some patients may also present with craniofacial dysmorphism including midface hypoplasia, hypertelorism, ptosis, coloboma of the iris and eyelids, low-set ears, depressed nasal bridge, and multiple hypertrophic frenula. Additional clinical features may include short stature, short broad thorax, scoliosis, atrial septal defect and ventricular septal hypertrophy, pulmonary artery stenosis and anal stenosis.
基本事实
- 遗传方式
- X 连锁显性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| FLNA | filamin A | Disease-causing germline mutation(s) in |
临床表型 23
极常见 99–80%2
- 色素沉着性丘疹 HP:0025473
- 包涵体纤维瘤病 HP:0025197
常见 79–30%5
- 额外口腔系带 HP:0000191
- 脱发 HP:0001596
- 短指（趾） HP:0001156
- 指（趾）内弯 HP:0030084
- 屈曲挛缩 HP:0001371
偶见 29–5%14
- 指（趾）关节屈曲 HP:0012385
- 鼻尖凹陷 HP:0000437
- 内眦赘皮 HP:0000286
- 眼距过宽 HP:0000316
- 牙齿发育不全 HP:0000685
- 虹膜缺损 HP:0000612
- 下肢骨骼骨质溶解 HP:0009139
- 上肢骨骼溶骨 HP:0045039
- 卵圆孔未闭 HP:0001655
- 耳前凹陷 HP:0004467
- 脊柱侧弯 HP:0002650
- 身材矮小 HP:0004322
- 胸部短小 HP:0010306
- 并指（趾）畸形 HP:0001159
罕见 <4–1%2
- 二尖瓣反流 HP:0001653
- 限制型心肌病 HP:0001723
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）