ALL ABOUT SYNDROME

What is Klinefelter syndrome?

Klinefelter syndrome is a genetic disorder in which males have an additional X chromosome in their genetic code. Most males have 46 chromosomes (packages of DNA). This includes one copy of an X chromosome and one copy of a Y chromosome (46, XY). People with Klinefelter syndrome have a total of 47 chromosomes (47, XXY).

What are the symptoms of Klinefelter syndrome?

The symptoms of Klinefelter syndrome vary in severity. Some people have several symptoms, while others don’t have any obvious ones. There are two general types of symptoms — physical and neurological.

Physical Klinefelter syndrome symptoms

Physical symptoms of Klinefelter syndrome affect your body and how it works. These symptoms may include:

A smaller penis.

Undescended testicles.

Atypical body proportions (like being really tall or having long legs and a short trunk).

Flat feet.

Radioulnar synostosis (when there’s an abnormal connection between the two main bones in your forearm).

Coordination issues.

Testicular failure (not making enough testosterone or sperm).

Increased breast tissue (gynecomastia) in teen or adult years.

Increased risk for blood clots.

Weaker bones or higher risk of fractures (called either osteopenia or osteoporosis as an adult).

*Stickler syndrome* 

is a genetic condition that affects connective tissues in your face and joints, leading to problems with vision, hearing and movement.

*Turner syndrome*, 

a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.

Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.

Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives.

*Trisomy 13 (Patau syndrome)* 

is a rare genetic condition when an extra copy of chromosome 13 attaches to a pair of chromosomes. Symptoms affect how the face, brain and heart develop, along with several other internal organs. Trisomy 13 symptoms are life-threatening and many cases result in a miscarriage or the baby passing away before turning 1.

*What is fragile X syndrome?*

Fragile X syndrome (FXS) is an inherited genetic disorder that causes physical abnormalities, behavioral issues and a wide range of other health problems, including:

Developmental delays.

Intellectual disabilities.

Learning disabilities.

Anxiety.

Attention-deficit/hyperactivity disorder.

Autism spectrum disorder.

Fragile X syndrome is the most common form of inherited intellectual and developmental disability (IDD). It gets its name because when you look at the X chromosome through a microscope, part of it looks “broken” or “fragile.” Another name for the condition is Martin-Bell syndrome.

*What are IDDs?*

IDDs are differences that are usually present at birth and that uniquely affect the trajectory of the individual’s physical, intellectual, and/or emotional development. Many of these conditions affect multiple body parts or systems.

Intellectual disability starts any time before a child turns 18 and is characterized by differences with both:

Intellectual functioning or intelligence, which include the ability to learn, reason, problem solve, and other skills; and

Adaptive behavior, which includes everyday social and life skills.

The term "developmental disabilities" is a broader category of often lifelong challenges that can be intellectual, physical, or both.

"IDD" is the term often used to describe situations in which intellectual disability and other disabilities are present.