SBDS-related severe neonatal spondylometaphyseal dysplasia
定义 英文原文（暂无中文）
A rare spondylodysplastic dysplasia characterized by severe, neonatal skeletal manifestations (including narrow thorax, rhizomelic shortening of the limbs with cupped anterior ends, mild to severe platyspondyly, lacy iliac crests, delayed ossification of the caudal ilia, ragged/cupped metaphyses of the long bones and hypoplastic pubic rami), severe respiratory failure (patients could require lifelong ventilation support), severe short stature and developmental delay. Additional clinical features may include atrial septal defect, seizures, pulmonary hypoplasia, gallbladder hypoplasia and hepatic fibrosis. Neutropenia and decreased serum amylase can be present.
别名
SBDS-related severe neonatal SMD、Spondylometaphyseal dysplasia, Sedaghatian-like type
基本事实
- 遗传方式
- 常染色体隐性
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SBDS | SBDS ribosome maturation 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）