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What is contractural arachnodactyly?

What is contractural arachnodactyly?

Congenital contractural arachnodactyly (CCA) is a genetic disorder that is characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures ), usually of the elbows, knees, hips, fingers and ankles; “crumpled”-looking …

What causes arachnodactyly?

What causes congenital contractural arachnodactyly? Congenital contractural arachnodactyly (CCA) is caused by mutations in the FBN2 gene. The FBN2 gene provides instructions for producing the fibrillin-2 protein . Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils.

How many people in the world have Beals syndrome?

While there is no information on the exact prevalence of Beals syndrome, it is estimated that the incidence (number of new cases within a given time) of Beals syndrome is less than 1 in 10,000 people per year. Beals syndrome affects males and females of all ethnicities, in all parts of the world, equally.

Can you have arachnodactyly without Marfan syndrome?

Causes. This feature can occur on its own with no underlying health problems, or it can be associated with certain medical conditions, including Marfan syndrome, Ehlers–Danlos syndromes, Loeys–Dietz syndrome, congenital contractural arachnodactyly, and homocystinuria.

How do you test for arachnodactyly?

93 The Steinberg sign, also known as the thumb sign, in which the thumb extends past the palm of the hand in a closed fist and Walker-Murdoch, or wrist sign, in which the thumb and fifth finger overlap around the wrist are typically used to asses arachnodactyly.

Can Arachnodactyly be normal?

Long, slender fingers can be normal and not associated with any medical problems. In some cases, however, “spider fingers” can be a sign of an underlying disorder.

What is the life expectancy of a person with Marfan syndrome?

One in 10 patients may have a high risk of death with this syndrome due to heart problems. Despite the high risk for Marfan related cardiovascular problems, the average life expectancy of those with Marfan syndrome is nearly 70 years. The life expectancy in this syndrome has increased to greater than 25% since 1972.

What disease makes you taller?

Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for connective tissue in the body. The gene defect also causes the long bones of the body to grow too much. People with this syndrome have tall height and long arms and legs.