Cri+du+chat+syndrome+RP

__ Cri Du Chat Syndrome: __ __ A Other Names__: deletion 5p syndrome, 5p minus, Lejeune syndrome, Cats cry syndrome. ·   About 1/3 of children lose the cry by age 2 ·   B    __First found by Jerome Lejeune in 1963 __  ·  __ D  Symptoms__- feeding problems because of difficulty swallowing and sucking, low birth weight and poor growth, severe cognitive, speech, and motor delays, behavioral problems such as hyperactivity, aggression, tantrums, and repetitive movements, unusual facial features which may change over time. excessive dribbling. constipation., This unusual cry is caused by abnormal development of the larynx  ·  __ H ____  Gender: __  __Females__: reach puberty and develop secondary sex characteristics, menstruate at the usual time, genital tract is usually normal in females except for a report of a bicornuate uterus. __Males__: testes are often small, but spermatogenesis is thought to be normal.  ·    I : results from lose or deletion of a significant portion of the genetic material in the short arm, number 5 chromosomes ·   E  Small head size, mentally challenged, Cardiac defects, this deleted genetic material is vital for normal development. Absence of this material results in the features associated with cri du chat syndrome.  ·   C  The syndrome is named for the cat-like cry made by infants with this genetic disorder. //Cri du chat// means "cat's cry" in French. The syndrome gets its name from the characteristic cry of infants born with the disorder. The infant sounds just like a meowing kitten, due to problems with the larynx and nervous system  ·   F- As of 2004 there is no cure for cri du chat syndrome. Treatment consists of supportive care and developmental therapy. Behavioral modification therapy has been found to be useful to control head-banging, hyperactivity, and other behavioral problems that emerge during later childhood.  ·   G - Between 1 in 20,000 - 50,000 babies are affected. This disease may account for up to 1% of individuals with severe mental retardation  ·   J

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