MERMAID SYNDROME

MEDIANA SUTOPO LIEDAPRAJA

DEPARTEMEN OBSTETRI DAN GINEKOLOGI

FAKULTAS KEDOKTERAN UNIVERSITAS INDONESIA

NOVEMBER 2015

• Mermaid syndrome known as sirenomelia• Sever form of caudal regression• Very rare congenital deformity ( 1: 100.000) legs are fused

together• Looks like mermaid’s tail• Fatal because complication abnormal kidney and bladder

development and function• Failure of vascular supply from lower aorta in utero

maternal diabetes

ETIOLOGYThere are 2 theory:• In mice Causes by lacking Cyp26a1 ( enzyme that degrades

retinoic acid) reduced bone morphogenetic protein (Bmp)

In Human excess RA signaling and deficit BMP signaling in caudal body.• Primary defect in the generation of the mesoderm

STOCKER AND HEIFETZ CLASSIFIED SIRENOMELIA INTO TYPE 1 TO TYPE VII.

( ACCORDING TO SKELETAL ELEMENTS THIGH AND LEG)

• Type I

All bones in two fused lime are present, fusion only affects superficial tissue

• Type VII

Most severe, only single bone is present with no indication of legs and feet.

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