MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome
定义 英文原文（暂无中文）
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, developmental delay, impaired/delayed motor and speech development, hypotonia, seizures, impairment of sensory and autonomic system (including obstipation, diarrhea, repeated episodes of apnea and/or desaturation, temperature dysregulation, reduced pain sensation and fever with unknown origin), endocrine and exocrine dysfunction (including pancreatic insufficiency, growth hormone deficiency, hypothyroidism, hypopituitarism, and hypoglycemia) and hematological abnormalities (including hypohemoglobinemia and thrombocytopenia). Craniofacial dysmorphism is reported in all patients with the most common features being high/broad forehead, depressed/wide nasal bridge, short nose, small mouth with tented upper lip vermilion and myopathic facial expression with open mouth. The clinical course during the first years of life can potentially be fatal.
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| MADD | MAP kinase activating death domain | 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）