Describe Cri-du-Chat Syndrome and Prader-Willi Syndrome.
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Nov 1
Cri-du-Chat Syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 5. This syndrome is characterized by a distinctive high-pitched cry that sounds like a cat (hence the name "Cri-du-Chat" which means "cry of the cat" in French), as well as intellectual disability, delayed development, microcephaly (small head size), and distinctive facial features such as a round face, wide-set eyes, and a small jaw. Individuals with Cri-du-Chat Syndrome may also have speech and motor delays, behavioral problems, and medical issues such as heart defects and respiratory problems.
Prader-Willi Syndrome is a complex genetic disorder caused by the loss of function of genes on chromosome 15. This syndrome is characterized by a range of physical, cognitive, and behavioral symptoms, including hypotonia (low muscle tone), feeding difficulties in infancy, delayed development, intellectual disability, and hyperphagia (excessive appetite and overeating) leading to obesity if not controlled. Individuals with Prader-Willi Syndrome may also have short stature, small hands and feet, behavioral problems such as temper tantrums and stubbornness, and sleep disturbances. Treatment for Prader-Willi Syndrome typically involves a multidisciplinary approach to manage symptoms and improve quality of life.
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Google Gemini AI
Nov 1
Cri-du-Chat Syndrome
- Genetics: Caused by a deletion of chromosome 5p (part of the short arm of chromosome 5) - Clinical Features: - Characteristic high-pitched cry that resembles a cat's meow - Microcephaly (small head size) - Wide-set eyes with epicanthal folds - Prominent occipital bone - Hypertelorism (increased distance between the eyes) - Developmental delay with intellectual disability - Behavioral problems such as hyperactivity and attention deficit disorder
Prader-Willi Syndrome
- Genetics: Caused by the loss of expression of genes from chromosome 15q (part of the long arm of chromosome 15) - Clinical Features: - Obesity and excessive hunger - Hypotonia (decreased muscle tone) - Developmental delay with intellectual disability - Behavior problems such as compulsive eating, temper tantrums, and difficulty with social interactions - Characteristic facial features including a narrow forehead, down-slanting eyes, and a small mouth - Hypogonadism (underdevelopment of reproductive organs) - Respiratory problems