Six Month Infant Suffers from Emanuel Syndrome: A Rare Disorder

A six-month-old baby from Wallsend, North Tyneside, is one out of  500 people in the world suffering from an extremely rare chromosome disorder known as 'Emanuel Syndrome'. 

Six months old April Karmazyn Wall, who was born via caesarean section at 38 weeks weighing 4lb 100z, suffers from a rare chromosome disorder known as Emanuel Syndrome that disrupts normal development and affects several parts of the body.

In these six months the little baby has undergone 10 operations and is under three kinds of medications. Despite all this ongoing health problems April faces, the parents hope that their daughter would be discharged from the Newcastle's Royal Infirmary within the next few weeks, reports Daily Mail.

April who is clueless about things happening continues to smile at the first time parents, Nadia Karmazyn, 31 and Scott Wall, 25.

Mother Nadia who is a technical advisor, said: "When she was born we did not know about the condition and we were shocked that she was diagnosed with it - it has been an incredibly difficult few months. April has quite a lot of medical problems but she smiles all the time and is easily entertained by the balloons around her cot. We can't put into words how proud we are of April as she has been through so much and continues to smile. She is so happy and it is amazing she has got through all that she has."

In most of the cases, babies with Emanuel Syndrome fail to survive for long. Not much is known about this rare chromosome disorder.

In April's case, she suffers from a low muscle tone and is unable to sit up due to slow growth. It is not known whether she will be able to speak or walk. She was born with pulmonary atresia in which parts of the heart are not developed completely and was kept on life saving treatment. Adding to her complications, the little one has a cleft palate and has problems with her gut.

Since she entered this world, her condition has been fragile and her family members dread whether she will survive, but the brave girl who has spent just an hour at her home in these six months, strongly battles the disease.

Infants suffering from Emanuel Syndrome have a weak muscle tone known as hypotonia and find it difficult to gain weight. They suffer from delayed growth and have severe intellectual disability. Infants with the Emanuel syndrome have a small head, small lower jaw, ear abnormalities, distinctive features, small pores in the skin front of the ears. Male children may have genital abnormalities. (source Genetic Home Reference.)