Verloes Bourguignon syndrome , also known as autosomal recessive brachyolmia-amelogenesis imperfecta syndrome, is a genetic disorder. It is a rare form of brachyolmia, a group of bone disorders that cause short stature.
Verloes Bourguignon syndrome affects bone and cartilage growth and development. This means that the individual may have abnormalities in the shape and size of their arms, legs, trunk, and head. The individual is often shorter or smaller than others. They may have larger ilia (hip bones) or have a longer femoral neck (the top part of the thigh bone). These two bone abnormalities cause a bigger angle between the connecting leg and hipbones. The bones of the spine (vertebrae) are often flattened which can lead to scoliosis (a curved spine). The teeth are also affected and may be smaller than usual and have an abnormal shape. They also lack enamel, the hard outer coating which protects the teeth. This leads to yellow or brown colored teeth and damage or breakage to occur more easily because the teeth are weaker.
Verloes Bourguignon syndrome is caused by a change or mutation in the LTBP3 gene. This condition is passed down from parent to child in an autosomal recessive manner, which means one mutation from each parent is needed to cause symptoms. A person with only one mutation is called a carrier because they “carry” one changed copy and one unchanged copy of the gene. Carriers also show no signs or symptoms of the condition. If both parents are carriers, each of their children has a one in four chance (25%) of having the condition and a 50/50 chance of being a carrier.
If you or a family member has been diagnosed with this condition, talk to your doctor about the best treatment options and resources. "
Description Last Updated: Feb 12, 2018