What is Fragile X syndrome characterized by?

Fragile X syndrome is characterized by moderate intellectual disability in affected males and mild intellectual disability in affected females. The physical features in affected males are variable and may not be obvious until puberty.

What is Fragile X syndrome strongly associated with?

Fragile X syndrome (FXS) is the most common inherited form of mental impairment and autism, and one of many types of intellectual dysfunction associated with gene defects in the X chromosome.

What limitations does a person with fragile X syndrome have?

Children and adults with full mutation fragile X may have problems with memory, abstract thinking, problem solving, and planning. Social and behavior problems, difficulty with learning, developmental delays, and autism spectrum disorder are common, as are anxiety and depression.

What part of the body does fragile X affect?

Flat feet. Flexible joints and low muscle tone. Large body size. Large forehead or ears with a prominent jaw.

What is piebald skin?

Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal.

Can you dye piebaldism?

Although the depigmented areas of piebaldism are benign and stable, the appearance can be socially and psychologically debilitating for some patients. Treatment is challenging and focuses on improving cosmesis. Although temporary, cosmetic camouflage (make-up) and hair dye can improve quality of life.

Is piebald the same as vitiligo?

Piebaldism is unrelated to conditions such as vitiligo or poliosis. Although piebaldism may visually appear to be partial albinism, it is a fundamentally different condition.

What are the physical characteristics of Fragile X syndrome?

Fragile X. In addition to learning difficulties, affected children tend to be restless and inattentive. Notable physical characteristics in boys will include a long and narrow face, large ears, prominent jaw, unusually flexible fingers, and enlarged testicles (macro-orchidism).

What is fragfragile-X syndrome (FXS)?

Fragile-X Syndrome is a genetic condition that causes a wide range of developmental problems including learning disabilities and mental retardation. It’s an inherited X-linked dominant pattern whereby a fragile area of the X chromosome tends to repeat bits of genetic code.

What is the prevalence of Fragile X syndrome?

Fragile X occurs in approximately 1 in 4,000 to 6,000 males and 1 in 8,000 to 9,000 females. In addition to learning difficulties, affected children tend to be restless and inattentive.

Is there a DNA test for Fragile X syndrome?

A simple DNA blood test for Fragile X syndrome is widely available and very accurate. This test can detect carriers and fully affected individuals. Any doctor can order the test.