Thanh Hoa boy diagnosed with Marfan syndrome

The anonymous boy presented no abnormalities at birth, according to his mother. But as time passed, his general height, along with the length of his limbs, toes and fingers increased much faster than his peers. His ribcage also protruded outward more than usual.

With no similar precedent in the boy’s family, various hospital trips failed to reveal a probable cause. Finally, at Hanoi E Hospital, he was diagnosed with Marfan syndrome, a genetic disorder affecting connective tissue, causing elongated limbs, overly flexible joints and possible heart complications.

Nguyen Dinh Lien, head of the hospital’s department of nephrology, urology and andrology, Wednesday said X-ray and genetic test results had confirmed his condition.

A boy suffering from Marfan syndrome in Thanh Hoa Province has an elongated body and protruding ribcage. Photo courtesy of the Hanoi E Hospital.

Signs and symptoms of Marfan syndrome are evident in the patient’s skeletal, cardiovascular and ocular systems, including above-average height, disproportionate body parts lengthwise, irregularities of the spine and feet, reduced eyesight and cracked skin. The aforementioned could vary greatly, even among members of the same family. The syndrome typically progresses as one ages.

Men and women are affected by Marfan syndrome equally, with around 1-2 for every 10,000 individuals affected by the syndrome, experts said.

Seventy-five percent of those affected by Marfan syndrome inherited the disorder from their parents, with the rest caused by mutations. Fifty percent may pass on the syndrome to their offspring, according to multiple research initiatives.

The syndrome has no cure, but can be managed by surgery, among other corrective measures.

"Having the syndrome isn’t the end for patients and their families. Many people with Marfan syndrome have gone on to become famous, including Christian Andersen, Charles Dickens and Abraham Lincoln," Lien stressed.