Turner Syndrome is a rare disease that occurs in between one and 2,000 birth only affecting females. Turner Syndrome has several names including Ullrich-Turner Syndrome, Bonnevie-Ullrich-Turner Syndrome. gonadal dysgenesis and 45X. This rare disease is the result of the absence of one set of genes from the short arm of one X chromosome.
Characteristics of Turner syndrome include facial and physical appearance, cognitive characteristics, clinical issues and mental healthy symptoms. No two people with Turner syndrome are exactly the same therefore, not everyone will display the same characteristics:
- down-turning eyelids
- low-set and prominent ears
- small jaw
- high narrow roof of mouth
- neck webbing
- broad chest with widely spaced nipples
- narrow fingernails and toenails
- hand and feet swelling
- short fingers
- smaller than average height
- skin moles
- chronic middle ear infections
- hearing loss
- heart, liver and kidney abnormalities
- delayed puberty
- undeveloped ovaries
- greater risk for diabetes
- high risk for celiac
- high risk for osteoporosis
- high risk obesity
- may not have menstruations
- normal intelligence in some cases
- issues with visual spatial
- nonverbal memory
- executive function issues
- difficulty in understanding social cues
- behavior issues.
Cri-Du Chat (cat’s cry) is a rare genetic disorder that results when a piece of the 5p chromosome is deleted. The name is French for “cry of the cat,” referring to the high-pitched cat-life cry. Other characteristics include intellectual disability, hyperactivity, and delay development. below are some more facts on this rare disease.
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- Cri du Chat is French for cat’s cry or crying cat
- The syndrome gets its name from the infant cry which is similar to a meowing kitten
- The cry is due to issues with the larynx and nervous system
- About one third of children lose the cry by the age of 2 years.
- It is also known as 5p- (5p minus)
- The size of the deletion varies among affected individuals
- Cri du chat syndrome is not inherited.
- About 10 percent of people with cri du chat syndrome inherit it from an unaffected parent.
- Is a chromosomal condition that results when a piece of chromosome 5 is missing
- People diagnosed with cri du chat tend to have distinctive facial features
- Occurs in an estimated 1 in 20,000 to 50,000 newborns
- Cri du chat is found in people of all ethnic backgrounds
- It was first described by Jerome Lejeune in 1963
- It is more common in females by a 4.3 ratio
- It is a rare genetic disorder
- In some cases, cri du chat syndrome may go undiagnosed
- Children born with cri du chat syndrome are more likely to have developmental delays
- The symptoms of cri du chat vary from person to person
- Both children and adults with cri du chat are often seen as cheerful and friendly.
Genetic and Rare Diseases Information Center
National Organizations of Rare Diseases
Today is National Trisomy Awareness Day. Below are 10 important facts on Trisomy 18.
- It is also known as Edwards Syndrome
- It is a condition caused by an error in cell division
- An extra chromosome in 18 develops
- Occurs in 1 out of every 2500 pregnancies in the United States
- It is 1 in 6000 live births
- Only 50% of babies who are carried to term will be born alive
- Children are often born with heart defects
- Features include a small head, small jaw, clenched fists and severe intellectual disabilities
- It is named after John Hilton Edwards, who first described the syndrome in 1960
- It affects different organ systems