What is sirenomelia?

What is sirenomelia?

Sirenomelia 1 Summary. Sirenomelia is a birth defect in which affected infants are born with a single lower extremity… 2 Cause. The exact cause of sirenomelia is unknown. Researchers believe that both environmental… 3 GARD Answers. Questions sent to GARD may be posted here if the information could be helpful to others.

What is the prevalence of sirenomelia?

Sirenomelia is a rare disorder, occurring in 1.5 : 100,000–4.2 : 100,000 births.6,8,9 It is 100–150 times more common in monozygotic twins than singletons. 12 The sirenomelia spectrum of defects includes external and internal genital defects.

Is sirenomelia part of the caudal regression sequence?

Sirenomelia used to be thought to be part of the caudal regression sequence. The characteristic feature of this is the presence of single or fused lower limbs. Twickler et al129 have provided evidence that caudal regression and sirenomelia are two different entities.

What is the difference between sirenomelia and meningomyelocele?

Some individuals with sirenomelia may have a meningomyelocele, a condition in which the membranes that cover the spine and, in some cases, the spinal cord itself protrude through a defect in the spinal column.

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. Affected infants are born with partial or complete fusion of the legs.

What are the life threatening consequences of sirenomelia?

Sirenomelia typically is associated with severe, life-threatening defects and complications, including heart and lung defects. It is often fatal in early infancy. The cause of sirenomelia is unknown, and it affects males more often than females.

Why is sirenomelia fatal?

Sirenomelia is fatal in most cases because of the characteristic pulmonary hypoplasia and renal agenesia. About 50% of the children are born alive after eight or nine months of pregnancy. Death occurs in the five days following birth.

Can mermaid baby survive?

Mermaid syndrome, although very rare, is often fatal. Most babies with this condition are stillborn or die within a few days of birth, despite treatment. Worldwide, only a few babies have survived beyond the newborn stage.

What gene causes sirenomelia?

A study by Orr et al. (1982) described craniofacial, caudal, and also visceral anomalies in sirenomelic mice, in which the Srn gene is considered to be responsible for causing sirenomelia.

Can sirenomelia be prevented?

Sirenomelia is a rare and lethal congenital anomaly. When diagnosed antenatally, termination should be offered. However, prevention is possible and should be the goal.

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.

How can sirenomelia be treated?

Treatment for a baby with mermaid syndrome usually involves seeing multiple medical specialists. The specialties depend on the syndrome’s effects. Orthopedic surgeons have performed procedures to separate fused limbs. However, even with treatment, mermaid syndrome is typically fatal past the newborn period.

Is sirenomelia dominant or recessive?

True recurrence of sirenomelia was reported in only one family with two of five affected by sirenomelia (Rudd and Klimek, 1990). These authors proposed evidence for a major dominant gene (with reduced penetrance) in familial caudal malformations.

Are there any treatments for sirenomelia?

How many types of sirenomelia are there?

Note: (a) According to the number of feet, sirenomelia is divided into three types: sympus apus, sympus monopus, and sympus dipus; (b) sirenomelia is considered to represent an extreme form of “caudal regression syndrome” (diabetic embryopathy) (Akbiyik et al, 2000); (c) overlap with two other entities: (1) small …