Catel-Manzke Syndrome (CATMANS)

Catel-Manzke综合征(来自ICD-11)

别称:

Hyperphalangy-Clinodactyly of Index Finger with Pierre Robin Syndrome

Micrognathia Digital Syndrome

Palatodigital Syndrome, Catel-Manzke Type

Catel Manzke Syndrome

Pierre Robin Syndrome with Hyperphalangy and Clinodactyly

Pierre Robin Sequence-Hyperphalangy-Clinodactyly Syndrome

Pierre Robin Syndrome-Hyperphalangy-Clinodactyly Syndrome

Index Finger Anomaly with Pierre Robin Syndrome

Index Finger Anomaly-Pierre Robin Syndrome

Catmans

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Catel-Manzke 综合症，又称为指间节过多-临床掌指畸形伴 Pierre Robin 综合症，与孤立性 Pierre Robin 综合症和指间节过多有关，症状包括癫痫发作。与 Catel-Manzke 综合症相关的重要基因是 TGDS（TDP-葡萄糖4,6脱水酶）。附属组织包括骨和舌，相关表型为发育不良和腭裂

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