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Newborn Suffers from Rare Birth Defect

Newborn Brantley Jacob has a rare condition called Klippel-Trenaunay syndrome. The birth defect causes symptoms such as varicose veins, excessive growth of the bones and soft tissues and a purplish-discoloration of the skin which resembles a large birthmark (also called port wine stain). There is no known reason why Klippel-Trenaunay syndrome occurs, but many experts attribute the cause to genetics. The story was reported by CNN Health.

For the last two months, Haleigh and David Jacobs have been attending to their 8-pound baby boy, who so far has spent virtually every moment of his short life inside an incubator. Baby Brantley’s left leg is a thick lump that cannot be distinguished from his toes. The left leg contains impaired capillaries and blood vessels. Brantley was born with a lump in his abdomen and a rectal tear that caused bodily fluids and blood to leak out. The rectal fissure has since undergone surgical repair and is healing well, said his doctors.

When Klippel-Trenaunay syndrome occurs in infancy, varicose veins are not a very common symptom. Varicose veins are swollen veins that can be seen through the surface of the skin. In toddler-age or adolescent patients with Klippel-Trenaunay syndrome, the varicose veins are much more common. In addition, the varicose veins are usually so swollen that they protrude outward, creating large lumps.

Mary Dunkle, the Vice President of Communications at the National Organization for Rare Disorders, informed people that most rare diseases develop in children because of genetic transfer. Unfortunately, couples like the Jacobs are forced to deal with a birth defect that usually does not have many available solutions.

Brantley’s leg is grossly swollen because his blood vessels clumped together and formed a tumor called hemangioma. The skin on his leg stretched out due to the massive swelling and has become very delicate. The leg requires constant moisturizing and wrapping in order to avoid bleeding and chapping.  Brantley’s condition was apparent even before his birth, but the sight of the baby boy’s leg after the delivery still shocked the Jacobs. He was kept at the hospital as the growth continued. It was obvious that Brantley was in pain every time he was moved. Rectal bleeding also persisted.

The doctors wanted to be sure what the problem was and called for specialists to look into the matter. A diagnosis came that Brantley had Klippel-Trenaunay syndrome, the rare genetic disease that affects people during childhood. Still, other doctors believed that it was CLOVES syndrome which is caused the malformations.  There is a possibility that Brantley could be affected by a conglomeration of the two syndromes.

Internal bleeding often occurs with Klippel-Trenaunay patients due to the deformed blood vessels in the rectum, liver, lungs and heart. As stated, the condition also results in port wine marks, varicose veins and other large protruding growths. Ms. Dunkle foresees an irregular future for Brantley. He will need to undergo laser surgery to take out blood vessels from his leg. Amputation of the leg is another available course of action. The Jacobs’ are still hoping for a cure. To find out more about rare conditions or birth defects that affect the blood vessels, or to learn more about treating varicose veins in the leg, find a DoctorQA physician in your area.

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