What gene causes sirenomelia?

Sirenomelia in Chromosomal and Monogenetic Conditions (1982) described craniofacial, caudal, and also visceral anomalies in sirenomelic mice, in which the Srn gene is considered to be responsible for causing sirenomelia.

What is the cause of mermaid syndrome?

According to the findings of the mermaid syndrome, caudal area hemorrhagia has been identified as a major cause and other factors include gestational diabetes mellitus and fetal exposure to teratogenic substances also has been reported.

Is there any treatment for sirenomelia?

The exact cause is unknown, but it is believed to result from irregularities in early development of the blood circulating system within the embryo. Surgery has been successful in separating joined legs. Other treatment is symptomatic and supportive.

What is sirenomelia sequence?

The sirenomelia sequence, also known as “mermaid syndrome”, is a polymalformative syndrome where the most noticeable (but inconstant) aspect is the fusion (more or less complete) of the lower limbs.

What do you need to know about sirenomelia syndrome?

Sirenomelia 1 General Discussion. Sirenomelia, which is also known as mermaid syndrome, is an extremely rare congenital developmental disorder characterized by anomalies of the lower spine and the lower limbs. 2 Signs & Symptoms. 3 Affected Populations. 4 Standard Therapies.

How is sirenomelia a multifactorial genetic disorder?

Most likely, sirenomelia is multifactorial, which means that several different factors may play a causative role. In addition, different genetic factors may contribute to the disorder in different people (genetic heterogeneity). The environmental factors that play a role in the development of sirenomelia are unknown.

How is sirenomelia related to congenital heart defects?

Congenital heart defects and respiratory complications such as severe underdevelopment of the lungs (pulmonary hypoplasia) can also be associated with sirenomelia. The exact cause of sirenomelia is unknown. Researchers believe that both environmental and genetic factors may play a role in the development of the disorder.

Which is a gene associated with sirenomelia in mice?

In animal models, several genes have been found to cause or be associated with sirenomelia. The srn (siren) gene is observed to cause hindlimb fusion in homozygous mice. Mice with knockouts or mutations in both tsg1 and bmp7 will also have hindlimb fusion.

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