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Alpha 1-antitrypsin deficiency
Autism and Aspergers Syndrome
Benign Infantile Epilepsy
Cri du chat
Duchenne Muscular Dystrophy
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Cri du chat
Cri du Chat - Cat's Cry Syndrome
Nature of the Genetic Difficulty
Each year in the United States, approximately 50 to 60 children are born with 5p- Syndrome (five p minus), also known as Cat Cry Syndrome or "Cri du Chat" Syndrome.
The syndrome gets its name from the characteristic cry of affected infants, which is similar to that of a meowing kitten, due to problems with the larynx and nervous system. About 1/3 of children lose the cry by age 2
Basic Facts of Disease
Cri du chat is also known as cat cry syndrome, monosomy 5p, chromosome 5p- syndrome, 5p deletion syndrome, and 5p- syndrome.
Cri du chat results from a deletion of a segment on the short arm of Chromosome 5. The larger the deleted segment, the more severe the intellectual and developmental delays and repercussions the affected individual may experience. The deletion which results in this disorder is of the CTNND2 gene.
Most cases of cri du chat are not inherited but occur as a random mutation in the formation of sperm or egg cells. Around 10% of the cases are inherited from an unaffected parent who has something called a balanced translocation, which results in the disorder in their offspring.
Common Symptoms of the Disease:
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.
The condition affects an estimated 1 in 20,000 to 50,000 live births, strikes all ethnicities, and is more common in females by a 4:3 ratio
Nearly all children with 5p- Syndrome have poor muscle tone when they are young. Other characteristics may include feeding difficulties, delays in walking, hyperactivity, scoliosis, and significant retardation. A small number of children are born with serious organ defects and other life threatening medical conditions, although most individuals with 5p- can anticipate a normal life expectancy.
Both children and adults with this syndrome are usually friendly and happy, and enjoy social interaction. With early and consistent educational intervention, as well as physical and language therapy, children with 5p- Syndrome are capable of reaching their fullest potential and can lead full and meaningful lives.
Genetic counseling and genetic testing may be offered to families with individuals who have Cri du Chat syndrome, and in addition, children may be treated by speech, sound, and occupational therapies. Surgical correction in addition to the normal physical therapies is often required if there are cardiac disformities that occur during growth.
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