颅豆状核发育不良
Craniolenticulosutural dysplasia
定义 英文原文（暂无中文）
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by large and late-closing fontanels (the anterior fontanel may not completely ossify in adulthood) associated with facial dysmorphism and mild generalized skeletal dysplasia. Patients usually present with short stature, significant hypertelorism and eye abnormalities (early onset cataract and other lens abnormalities, esotropia, optic atrophy). Associated facial features include abnormal hair (sparce and brittle), hyperpigmentation with capillary hemangioma on the forehead, macrocephaly, frontal bossing, wide nasal bridge, long philtrum, large mouth, thin vermilion, high arched palate and abnormal dentition. Other associated morphological abnormalities include vertebral wedging with scoliosis, high and narrow iliac wings, pectus excavatum, joint hypermobility and flat feet.
别名
Boyadjiev-Jabs综合症
基本事实
- 遗传方式
- 常染色体隐性
- 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 |
|---|---|---|
| SEC23A | SEC23 homolog A, COPII component | Disease-causing germline mutation(s) (loss of function) in |
临床表型 34
极常见 99–80%26
- 毛发干枯 HP:0002299
- 龋齿 HP:0000670
- 毛发粗糙 HP:0002208
- 颅骨骨化减少 HP:0004331
- 牙齿萌出延迟 HP:0000684
- 前额突出 HP:0002007
- 高髂骨翼 HP:0008808
- 眼距过宽 HP:0000316
- 牙齿发育不全 HP:0000685
- 上颌骨发育不全 HP:0000327
- 大囟门 HP:0000239
- 长人中 HP:0000343
- 小牙畸形 HP:0000691
- 后Y缝白内障 HP:0008031
- 椎体后侧楔形 HP:0008444
- 牙齿过早脱落 HP:0006480
- 鼻梁突出 HP:0000426
- 眶上嵴突出 HP:0000336
- 脊柱侧弯 HP:0002650
- 身材矮小 HP:0004322
- 骨骼发育不良 HP:0002652
- 人中扁平 HP:0000319
- 毛发稀疏 HP:0008070
- 下红唇薄 HP:0000233
- 宽嘴 HP:0000154
- 宽鼻 HP:0000445
常见 79–30%5
- 皮肤着色异常 HP:0001000
- 毛细血管瘤 HP:0005306
- 皮肤色素沉着 HP:0000953
- 窄胸 HP:0000774
- 扁平足 HP:0001763
偶见 29–5%3
- 语言发育迟缓 HP:0000750
- 高腭 HP:0000218
- 关节过度活动 HP:0001382
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）