Question: What Is Proteus Syndrome?

What is Jordan syndrome?

PPP2R5D-related intellectual disability is a neurological disorder characterized by moderate to severe developmental delay and intellectual disability.

Affected individuals have weak muscle tone (hypotonia); delayed development of motor skills, such as sitting, standing, and walking; and delayed speech development..

How many cases of Proteus syndrome are there?

Proteus syndrome is believed to be exceedingly rare, with less than 100 confirmed affected individuals reported worldwide. This suggests that prevalence is less than 1 case per 1,000,000 live births. However, this condition is also often misdiagnosed.

What does Proteus mirabilis smell like?

Proteus mirabilis swarming. A surprisingly common cause of UTIs. It smells like old garbage when grown on agar plates, although others claim it smells like burnt chocolate or cocoa.

Is Sotos Syndrome a disability?

However, adult height is usually in the normal range. People with Sotos syndrome often have intellectual disability, and most also have behavioral problems. Frequent behavioral issues include attention-deficit/hyperactivity disorder (ADHD), phobias, obsessions and compulsions, tantrums, and impulsive behaviors.

What are the signs and symptoms of Proteus syndrome?

What are the signs and symptoms of Proteus syndrome?Overgrowth of limbs, digits (fingers and toes) and skull. … Scoliosis (curvature of the spine) from abnormal vertebral growth.Disproportionate overgrowth and focal atrophy (wasting away) of the upper arm muscles and neck, leading to the “hunched-over” look.

Is there a cure for Proteus syndrome?

There’s no cure for Proteus syndrome. Treatment generally focuses on minimizing and managing symptoms. The condition affects many parts of the body, so your child may need treatment from several doctors, including the following: cardiologist.

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

Life expectancy is 9 months to 29 years, according to “Radiologic manifestations of Proteus syndrome” published in the Radiological Society of North America journal RadioGraphics.

What is Proteus syndrome pictures?

Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently.

What are the symptoms of Proteus infection?

They include dysuria, increased frequency, urgency, suprapubic pain, back pain, small volumes, concentrated appearance, and hematuria. If the patient is febrile, this could be a sign of bacteremia and impending sepsis. These symptoms may not be present if the patient has an indwelling catheter.

What is a Harlequin baby?

Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures).

Where is Proteus found?

Introduction. Proteus is found abundantly in soil and water, and although it is part of the normal human intestinal flora (along with Klebsiella species, and Escherichia coli), it has been known to cause serious infections in humans.

What is the cause of Proteus syndrome?

Proteus syndrome is caused by a variant in a growth regulatory gene called AKT1 that occurs after fertilization of the embryo (somatic mutation). Affected persons have some cells with a normal copy of this regulatory gene and some cells with the abnormal gene (mosaic).