Cri du Chat is a genetic deletion disorder. It is caused by the loss of the shorter part of the chromosome pair 5. Infants tend to make a "mewing" sound; a usual characteristic for this syndrome, which led to its name. Children with this disorder have unusual small heads, round faces,wide-set eyes, and intellectual disabilties. It occurs in about 1 in 20,000 births, and most people with Cry of the Cat syndrome do not survive into adulthood. There is no family history to the Cri du Chat. Most occur as new mutulations.
How it's inherited:
Most cases are not inherited. The chromosomal deletion is a completly random event during the formation of reproductive cells. Affected people typically have no history of the disorder in their family.
Symptoms:
Cry that is high-pitched and sounds like a cat
Downward slant to the eyes
Low birth weight and slow growth
Low-set or abnormal shaped ears
Mental Retardation
Partial webbing or fusing of fingers or toes
Single line in the palm of the hand
Skin tags just in front of the ear
Slow or incomplete development of motor skills
Small head
Small jaw
Wide-set eyes
Treatment:
There is no cure for the "Cry of the Cat" and there is no specific treatment. Counseling is recomended for the mental retardation symptom.
Extra Info:
Many times Cri du Chat goes undiagnosed. "That was the case with Allison Wallace of Bellefountain, Ohio, who was not diagnosed with cri du chat until she was 2 months old. "Her cry was so cute, like a little cat, but we didn't think anything of it as first-time parents," said her father, Nick Wallace, a customer service representative. Neither did her doctor, and it wasn't until the baby struggled with feeding, aspirating formula and requiring a gastrointestinal tube, that genetic testing was ordered." (ABC News)
Cri du Chat
Isaac Hoernig (seated in stroller), who has cri du chat syndrome, is just beginning to walk at age 6. He is shown here with his brother, Caleb, 5, and his parents Micah and Kim Hoernig of Monroe, N.Y. (Courtesy of Hoernig family)
(Cry of the Cat)
Cri du Chat is a genetic deletion disorder. It is caused by the loss of the shorter part of the chromosome pair 5. Infants tend to make a "mewing" sound; a usual characteristic for this syndrome, which led to its name. Children with this disorder have unusual small heads, round faces,wide-set eyes, and intellectual disabilties. It occurs in about 1 in 20,000 births, and most people with Cry of the Cat syndrome do not survive into adulthood. There is no family history to the Cri du Chat. Most occur as new mutulations.
- How it's inherited:
Most cases are not inherited. The chromosomal deletion is a completly random event during the formation of reproductive cells. Affected people typically have no history of the disorder in their family.- Symptoms:
Cry that is high-pitched and sounds like a catDownward slant to the eyes
Low birth weight and slow growth
Low-set or abnormal shaped ears
Mental Retardation
Partial webbing or fusing of fingers or toes
Single line in the palm of the hand
Skin tags just in front of the ear
Slow or incomplete development of motor skills
Small head
Small jaw
Wide-set eyes
- Treatment:
There is no cure for the "Cry of the Cat" and there is no specific treatment. Counseling is recomended for the mental retardation symptom.- Extra Info:
Many times Cri du Chat goes undiagnosed. "That was the case with Allison Wallace of Bellefountain, Ohio, who was not diagnosed with cri du chat until she was 2 months old. "Her cry was so cute, like a little cat, but we didn't think anything of it as first-time parents," said her father, Nick Wallace, a customer service representative. Neither did her doctor, and it wasn't until the baby struggled with feeding, aspirating formula and requiring a gastrointestinal tube, that genetic testing was ordered." (ABC News)- Video:
http://www.criduchat.asn.au/criduchat/video.htm