Robinow Syndrome, Autosomal Recessive 1 (RRS1)

常染色体隐性Robinow综合征1型(来自ICD-11)

别称:

Robinow Syndrome, Autosomal Recessive

Autosomal Recessive Robinow Syndrome

Covesdem Syndrome

Costovertebral Segmentation Defect-Mesomelia Syndrome

Rrs1

Rrs

Robinow Syndrome, Autosomal Recessive, with Aplasia/hypoplasia of Phalanges and Metacarpals/metatarsals

Robinow Syndrome Autosomal Recessive with Aplasia/hypoplasia of Phalanges and Metacarpals/metatarsals

Robinow Syndrome, Autosomal Recessive, with Brachy-Syn-Polydactyly

Robinow Syndrome Autosomal Recessive with Brachy-Syn-Polydactyly

Costovertebral Segmentation Defect with Mesomelia, Formerly

Costovertebral Segmentation Defect with Mesomelia

Robinow, Autosomal Recessive Syndrome, Type 1

Covesdem Syndrome, Formerly

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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

罗宾伍综合征，常染色体隐性1型，也称为罗宾伍综合征，常染色体隐性，与罗宾伍综合征，常染色体显性2型和罗宾伍综合征，常染色体显性1型有关。罗宾伍综合征，常染色体隐性1型的一个重要基因是ROR2（受体酪氨酸激酶样孤儿受体2），其相关通路/超级通路包括阿尔茨海默病和miRNA效应以及WNT信号传导。相关组织包括骨和舌，相关表型为额间距增宽和开颌。

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