Sirenomelia
| Classification according to ICD-10 | |
|---|---|
| Q74.8 | Other specified congenital malformations of the extremity (s) |
| ICD-10 online (WHO version 2019) | |
Sirenomelia , (syn. Symmelie , Sympodie , or mermaid syndrome , English sirenomelia , sympodia , mermaid syndrome , historically and siren malformation ) is a very rare congenital malformation in which the legs from the pelvis have grown together down.
The name of the syndrome is derived from the sirens : female mythological figures who have been represented with fish tails since the Middle Ages.
Sirenomelia affects only one in 100,000 newborns. The Würzburg pathologist August Förster (1822–1865) described three variants of different severity in 1865. In lighter cases, the legs are in place, but fused together; In severe cases, the lower legs - or the entire legs - are only rudimentary.
There are almost always other malformations of the arms and internal organs , such as renal agenesis . The children are therefore seldom viable. 70% of the fetuses are stillborn, the rest die shortly after birth. In the literature, out of 450 cases, only three affected persons with longer survival times are described: Tiffany Yorks (born 1988, New Port Richey, Florida; died February 2016), Milagros Cerrón (born 2004, Lima, Peru; died October 2019) and Shiloh Pepin ( born 1999, Maine, USA; died 2009). Of the three, only Shiloh hadn't had an operation to separate her legs. Her life expectancy was actually only a few months, but after two successful kidney transplants she attended school and used a wheelchair to get around. In October 2009, Shiloh Pepin died of pneumonia.
The cause of the sporadic malformation is not known. Similar changes could be induced in animal experiments with chemical teratogens .
See also
literature
- Philipp Johannes Plendl: The Symmelie (Sirenomelia) in humans and animals. Inaugural dissertation, Justus Liebig University Gießen, Gießen 2002 ( online ).
Web links
Individual evidence
- ↑ Murió Milagros Cerrón, the girl born with sirenomelia, died at the age of 15 ( transl .) Clarin.com, accessed on December 22, 2019