Syndromes

Cards (39)

  • Fragile X syndrome
    A genetic disorder that is the most common cause of inherited intellectual disability and autism spectrum disorders
  • Fragile X syndrome

    • Caused by an expansion of a repetitive sequence of DNA called a CGG repeat on the X chromosome
    • This expansion results in the silencing of the FMR1 gene, which codes for the fragile X mental retardation protein (FMRP)
    • The absence or dysfunction of this protein leads to various developmental and cognitive challenges
  • CGG repeat

    A repetitive sequence of DNA on the X chromosome
  • A normal copy of the FMR1 gene has 5-44 CGG repeats, while individuals with Fragile X syndrome have 200 or more repeats</b>
  • The expansion of the CGG repeat in the FMR1 gene

    Interferes with the production of FMRP, resulting in its absence or dysfunction
  • Fragile X syndrome can affect both males and females
  • Males with Fragile X syndrome

    Typically exhibit more severe symptoms than females because females have two copies of the FMR1 gene (XX), so even if one copy is affected, the other can compensate for its absence or dysfunction to some extent
  • Klinefelter syndrome
    A genetic condition that occurs in males when they have an extra X chromosome, resulting in a chromosomal pattern of XXY instead of the typical XY
  • Klinefelter syndrome

    • Can lead to a variety of physical and developmental differences, including infertility, reduced testosterone levels, small testes, gynecomastia (enlarged breasts), and potential learning and behavioral challenges
  • Klinefelter syndrome is the most common chromosomal disorder in males, occurring in about 1 in every 500 to 1,000 male births
  • Klinefelter syndrome is characterized by the presence of an extra X chromosome (XXY), which can lead to various physical and developmental differences
  • Prader-Willi Syndrome (PWS)

    A complex, multisystem disorder characterized by neonatal hypotonia with poor suck and poor weight gain without nutritional support, developmental delay, mild cognitive impairment, hypogonadism
  • Some people with Prader-Willi syndrome have unusually fair skin and light-colored hair
  • Both affected males and affected females have underdeveloped genitals
  • Puberty is delayed or incomplete, and most affected individuals are unable to have children (infertile)
  • Cri du chat syndrome

    A rare genetic disorder caused by missing pieces on a particular chromosome
  • Cri du chat syndrome is not the result of anything the parents have done or failed to do
  • Characteristics of a newborn with cri du chat syndrome

    • High-pitched cry
    • Small head
    • Flattened bridge of the nose
  • When the structure of chromosome 5 is changed, it causes cri du chat syndrome
  • Effects of cri du chat syndrome

    • Constipation
    • High rate of infections
    • Poor muscle tone
    • Eye problems
  • Cri du chat syndrome
    The babies affected have a high pitched cry, imitating a cat-like sound
  • Around 1 in 50,000 get diagnosed with cri du chat syndrome
  • People who are affected by cri du chat syndrome live over 50 years old
  • 75% of people with cri du chat syndrome die in their first month and 90% die in their first year
  • Down syndrome
    A condition in which a baby is born with an extra chromosome number 21
  • Down syndrome

    • Associated with delays in the child's mental and physical development
    • Increased risk for health problems
  • Down syndrome is not new - the first evidence of its existence dates back 2,500 years</b>
  • Down syndrome is named after John Langdon Down, an English doctor who published a clinical description in 1866
  • In the 1940s, a child with Down syndrome had a life expectancy of 12 years

    These days, their life expectancy is 60 years and a baby born with Down syndrome could live into their 80s — in line with the general population
  • 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 short adult human height
    • Can cause infertility
  • Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects
  • The life expectancy for people with Turner syndrome might be slightly shorter
  • By testing for and treating the health conditions that can come with TS, people with TS can expect to have a typical lifespan
  • Williams syndrome is a rare genetic disorder that is caused by the deletion of genetic material on chromosome 7. Typical characteristics include distinctive facial features, mild intellectual disability and an overly sociable personality.
  • People with WS may have mild to moderate delays in their cognitive development (ability to think and reason) or learning difficulties. They also may have a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety.
  • People with WS may have mild to moderate delays in their cognitive development (ability to think and reason) or learning difficulties. They also may have a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety.
  • Cystic fibrosis is an inherited disease caused by mutations in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). The CFTR gene provides instructions for the CFTR protein . People who inherit two copies of a mutated CFTR gene (one copy from each biological parent) will have cystic fibrosis.
  • Cystic fibrosis is called 65 roses because an observant 4-year-old, hearing the name of his disease for the first time, pronounced cystic fibrosis as "65 Roses." Today, "65 Roses" is a term often used by young children with cystic fibrosis to pronounce the name of their disease.