Tetra Amelia Syndrome

Have you ever imagine yourself without hands and legs? Isn’t that a thought horrible?! Picturing ourselves with these kinds of defects cannot withhold us to stay! However, it is really an overwhelming fact that there are still such people in the world, struggling to overcome situations.  

Latest NEWS!!!

In Vidisha district of Madhya Pradesh, a 28-year-old woman had given birth to a baby girl1 who is missing all four limbs due to a rare heredity disorder. This incident took place on June 26th 2020. The doctors had reported that there is a defect in the baby’s external body where there were no legs and arms found called Tetra-Amelia. 

                                                    

                                                                 

What is Tetra Amelia?

Tetra Amelia syndrome is an extremely rare autosomal recessive (see the figure) 2 disorder causes malformation of the organs and external parts of the body, that has been characterized by complete absence of four limbs3. The disease has got its name from combination of Greek words; “Tetra” refers to “four” and “Amelia” signifies the failure of an arm or leg to develop before birth. The disorder cause severe deformations of other parts of the body, that includes face, head, heart, nervous system, skeleton, and genitalia.

This type of rare disease occurs in every 1.5 – 4 for 1lakh births. Indeed, the disorder has serious birth medical issues, most of the babies are found in stillborn and in additional, there are also some few shortly live after the birth.

           

                      

                                                                                                                                                     

 

How it occurs?  

The appropriate etiology of the disease is not well known. According to the records details, the disorder is caused by mutations in WNT gene. WNT3 gene derives form a large family, plays a very important role in the early stages of the human limb, craniofacial and urogenital developments. The gene commands to develop proteins that involve chemical signaling pathways in the embryonic stage. These pathways regulate the interactions between cells.

Researchers had a deep investigation on the WNT3 protein and finalized that the protein which is produced from the WNT3 gene is main the source for the outgrowth of the external organs in the embryogenesis. Additionally, these proteins in humans are involved in the normal formation of the facial features, head, heart, lungs, nervous system, skeleton, and genitalia. 

As the name hints the inherited autosomal recessive syndrome, the mutation in the WNT3 gene is derived from each parent. Occurrence of change in both copies (parent cells) of the WNT3 gene in each cell happens by preventing production of proteins by replacing one protein building block (amino acid) with a premature stop signal. These genes combine to develop chromosomes. Fortunately, there is loss of the WNT3 protein that destroys limb formation before birth and leads to the other serious birth defects. The mutation process occurs between 13th and 20th week of gestation and is coded as Gln83Ter or Q83X. 

Diagnosis:

As far as the disease as concerned, there is no diagnosis after the birth of the child. But there is one possibility to detect the kind of fetus can be designed in the womb, this diagnosis is so far called as ultrasonography. Typically, this technique is used to image the internal organs of the body. Ultrasound finds a way by importing signals into the developing embryo to identify the missing limbs and other deformed parts of fetus developing body. In additional, the ultrasounds can even have the capacity to trap the cause behind the formation of limbs and other organs.

How to OVERCOME?

Hardly, there is any such treatment which could heal the body carrying the disorder. Eventually, there is no immediate treatment after the birth. Rather, the treatment with physical therapies and assistive devices and prosthetics4 will add some alternative possibilities that could still hold the breath of life. These human made devices can withstand till the child grows and move in journey.

                                                              

                                                                 Rob Mendez, Football coach

                                                                               

Conclusion:

Indeed, there is no related way to prevent Amelia. It’s a solid digesting fact of incomplete body. Genetic testing could prompt one percent of chance to calculate the pregnancy testing. The medical history of parents has given up a challenging design of the couple’s family plan that could alternate the upcoming living beings. 

Things happen in this world makes people happily survive even with internal sorrows. That supernatural hope in those will be automatically generated, to brave their fights against negative vibes. However, kind hearts are still roaming around to encourage such lively testimonies that render a smile on face. 

                                                                                                                   By,

                                    Thabitha Supriya. A

                                    B.Pharmacy