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Macleod-Fraser Syndrome


Presentation

  • The numbered bands specify the location of the thousands of genes that are present on each chromosome.[rarediseases.org]
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Down Syndrome
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Multiple Congenital Anomalies
Long Arm
  • Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 4q21” refers to band 21 on the long arm of chromosome 4.[rarediseases.org]
Short Arm
  • Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 4q21” refers to band 21 on the long arm of chromosome 4.[rarediseases.org]
Ear Deformity
  • These may include eye defects with complete fusion of the eyelids (cryptophthalmos), malformed or missing kidneys (renal agenesis), partial fusion of the fingers and toes (syndactyly) and middle and outer ear deformities.[rarediseases.org]
Hearing Impairment
  • Infants and children with Fraser syndrome may also have additional abnormalities including malformations of the middle and outer ear that may result in hearing impairment. Fraser syndrome is inherited as an autosomal recessive genetic trait.[rarediseases.org]
Widely Spaced Nipples
  • Other characteristics may include hair growth that extends from the forehead to the eyebrows, high or cleft palate, malformation of the eyelid ducts that convey tears, a displaced navel, malformed or missing larynx, widely spaced nipples, malformation[rarediseases.org]
Withdrawn
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Suggestibility
  • Accumulating evidence suggests that endoplasmic reticulum stress plays a role in the pathogenesis of diabetes, contributing to pancreatic beta cell loss and insulin resistance.[semanticscholar.org]
Clitoromegaly
  • Affected females may have malformed fallopian tubes, an abnormally enlarged clitoris (clitoromegaly), and/or an abnormally shaped uterus (bicornate uterus).[rarediseases.org]
Cryptorchidism
  • In males there may be an abnormal opening of the urethra on the underside of the penis, or failure of the testicles to descend into the scrotum (cryptorchidism).[rarediseases.org]
Excitement
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Stroke
  • Symptoms, risk factors and treatments of MELAS syndrome (Medical Condition) Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes â abbreviated to MELAS â is one.[lugnt-lag.pw]

Treatment

  • Standard Therapies Treatment Treatment of Fraser syndrome may include surgery to correct some of the malformations associated with this disorder. Other treatment is symptomatic and supportive.[rarediseases.org]
  • The underlying cause of TMS is unresolved psychological tension, and the most effective treatment is to become aware of and treat that psychological problem populär:[lugnt-lag.pw]

Prevention

  • Finding these genes could lead to effective ways to treat and prevent Fahr's Syndrome Norton provides award-winning antivirus and security software for your PC, Mac, and mobile devices. Now includes LifeLock Identity Theft Protection.[lugnt-lag.pw]

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