Sirenomelia

Alias:

Sirenomelia Syndrome

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Gene & Mutation

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Sirenomelia, also known as sirenomelia syndrome, is related to sacral defect with anterior meningocele and caudal regression-sirenomelia spectrum. An important gene associated with Sirenomelia is CDX2 (Caudal Type Homeobox 2). Affiliated tissues include skin and spinal cord, and related phenotypes are renal hypoplasia/aplasia and anal atresia

Related ID：

MALACARDS：SRN002

ICD11：473306797