Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
定义 英文原文（暂无中文）
A rare syndromic craniosynostosis characterized by developmental delay, poor gross and/or fine motor control, speech and language delay, learning difficulties and/or behavioral problems (including hyperactivity and poor concentration), facial dysmorphism and Chiari-1 malformation (not always present). Most of the patients present with postnatal-onset, progressive multisutural synostosis, including sagittal and uni/bi-lambdoid sutures (predominated patterns), coronal synostosis or pansynostosis. Permanent visual impairment due to raised intracranial pressure was reported in some patients. Facial dysmorphism including prominent forehead, orbital hypertelorism, mild exorbitism and malar hypoplasia, medial epicanthic folds and short up-turned nose is commonly observed. Hydrocephalus, macrocephaly, low set ears, dysplactic auricles, long philtrum, vertical displacement of the nose and high arched palate are also reported in some patients. Additional clinical findings may include hearing impairment and mild shortening of the digits.
别名
ERF-related syndromic craniosynostosis
基本事实
- 遗传方式
- 常染色体显性
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ERF | ETS2 repressor factor | Disease-causing germline mutation(s) in |
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）