Robinow Syndrome

Robinow Syndrome(来自ICD-11)

别称:

Acral Dysostosis with Facial and Genital Abnormalities

Fetal Face Syndrome

Robinow Dwarfism

Mesomelic Dwarfism-Small Genitalia Syndrome

Robinow-Silverman-Smith Syndrome

Robinow-Silverman Syndrome

Robinow's Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Robinow Syndrome, also known as acral dysostosis with facial and genital abnormalities, is related to robinow syndrome, autosomal dominant 2 and robinow syndrome, autosomal dominant 3. An important gene associated with Robinow Syndrome is ROR2 (Receptor Tyrosine Kinase Like Orphan Receptor 2), and among its related pathways/superpathways are Signal Transduction and ADORA2B mediated anti-inflammatory cytokines production. Affiliated tissues include bone and kidney, and related phenotypes are short stature and mesomelia

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