With the exception of genes related to sex characteristics, all genes come in pairs - one copy inherited from your father (paternal gene) and one copy inherited from your mother (maternal gene). Although the exact mechanisms responsible for Prader-Willi syndrome haven't been identified, the problem lies in the genes located in a particular region of chromosome 15. Prader-Willi syndrome is a genetic disorder, a condition caused by an error in one or more genes. Request an Appointment at Mayo Clinic Causes If you have concerns about your baby's health between well-baby visits, schedule an appointment with your child's doctor. Regularly scheduled well-baby visits can help identify early signs of poor growth and development, which can be signs of Prader-Willi syndrome or other disorders. #Pica syndrome areas skin#These may include small hands and feet, curvature of the spine (scoliosis), hip problems, reduced saliva flow, nearsightedness and other vision problems, problems regulating body temperature, a high pain tolerance, or a lack of pigment (hypopigmentation) causing hair, eyes and skin to be pale. These disorders can result in excessive daytime sleepiness and worsen behavior problems. Children and adults with Prader-Willi syndrome may have sleep disorders, including disruptions of the normal sleep cycle and a condition in which breathing pauses during sleep (sleep apnea). Other mental health disorders, such as anxiety and skin picking, may develop. They may also develop obsessive-compulsive or repetitive behaviors, or both. They may throw temper tantrums, especially when denied food, and may not tolerate changes in routine. Children and adults may at times be stubborn, angry, controlling or manipulative. Poor articulation of words may be an ongoing problem into adulthood. Toddlers with Prader-Willi syndrome often reach milestones in physical movement - for example, sitting up or walking - later than other children do. Even those without significant intellectual disability have some learning disabilities. Mild to moderate intellectual disability, such as issues with thinking, reasoning and problem-solving, is a common feature of the disorder. Other endocrine problems may include underproduction of thyroid hormone (hypothyroidism) or central adrenal insufficiency, which prevents the body from responding appropriately during stress or infections. Underproduction of growth hormone can result in short adult height, low muscle mass and high body fat. Without treatment, women may not start menstruating until their 30s or may never menstruate, and men may not have much facial hair and their voices may never fully deepen. This results in underdeveloped sex organs, incomplete or delayed puberty, and in nearly all cases, infertility. A condition called hypogonadism occurs when sex organs (testes in men and ovaries in women) produce little or no sex hormones. Unusual food-seeking behaviors, such as hoarding food, or eating frozen food or even garbage, may develop. Constant hunger leads to eating often and consuming large portions. A classic sign of Prader-Willi syndrome is a constant craving for food, resulting in rapid weight gain, starting around age 2 years. Other features of Prader-Willi syndrome appear during early childhood and remain throughout life, requiring careful management. In females, the clitoris and labia may be small. The testicles may be small or not descended from the abdomen into the scrotum (cryptorchidism). Males may have a small penis and scrotum. A baby may seem unusually tired, respond poorly to stimulation, have a hard time waking up or have a weak cry. Poor sucking makes feeding difficult and can result in failure to thrive. Infants may have a poor sucking reflex due to decreased muscle tone. Children may be born with almond-shaped eyes, a narrowing of the head at the temples, a turned-down mouth and a thin upper lip. Babies may rest with their elbows and knees loosely extended instead of fixed, and they may feel floppy or like rag dolls when they're held. A primary sign during infancy is poor muscle tone (hypotonia). Signs and symptoms that may be present from birth include: Symptoms may slowly change over time from childhood to adulthood. Signs and symptoms of Prader-Willi syndrome can vary among individuals.
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