Beckwith-Wiedemann Syndrome (BWS)

Beckwith-Wiedemann Syndrome(来自ICD-11)

别称:

Exomphalos-Macroglossia-Gigantism Syndrome

Wiedemann-Beckwith Syndrome

Bws

Beckwith-Wiedemann Syndrome Due to Cdkn1c Mutation

Emg Abnormality

Emg Syndrome

Beckwith-Wiedemann Syndrome Due to Nsd1 Mutation

Macroglossia Exomphalos Gigantism

Beckwith-Wiedemann Spectrum

Bwsp

Wbs

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Beckwith-Wiedemann Syndrome, also known as exomphalos-macroglossia-gigantism syndrome, is related to hepatoblastoma and macroglossia. An important gene associated with Beckwith-Wiedemann Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C). The drugs Acetylcholine and Vincristine have been mentioned in the context of this disorder. Affiliated tissues include Kidney and tongue, and related phenotypes are neoplasm and tall stature

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