Cri-Du-Chat Syndrome (Cat's Cry Syndrome)
What is this disease?
Cri-Du-Chat Syndrome ,also known cat's cry syndrome and 5p- (5p minus) syndrome, is a rare genetic disorder in which the short arm of chromosome 5 has been partially deleted. The infants affected usually have a characteristic high-pitched cry , similar to that of a feline. The size of the deletion of chromosome 5 varies among affected individuals. Studies suggest, but do not prove, that larger deletions of the chromosome tend to result in a more severe intellectual disability than smaller deletions. How common is this disease? Cri-Du-Chat syndrome occurs approximately 1 in every 20,000 to 1 in 50,000 newborns. Cri-Du-Chat Syndrome is present in all ethnicities. There is a slight female predominance in the male-to-female ratio of affected individuals. The female to male ratio is 4:3. What causes this disease and how can you get it? The cause of Cri-Du-Chat Syndrome is a partial deletion of the short arm of chromosome 5. This partial deletion on chromosome 5 is usually a random mutation, but it can be inherited. In around eighty percent of patients that inherited the disease, the father was carrying the gene for the disease. What are the symptoms? The symptoms of Cri-Du-Chat syndrome are intellectual disability, delayed development, small head size, low birth weight, weak muscle tone, heart defects,muscular or skeletal and hearing or sight problems. The affected individuals also have idiosyncratic facial features such as: low-set ears, a rounded face, a small jaw, widely set ears, single line in the palm (simian crease), flattened nose bridge, downward slanted eyes, malformed ears, difficulties swallowing, and a high-pitched crying sound, similar to a cat. Infants are usually diagnosed with the disease at birth. This is because of the high-pitched cat cry the disease is named after. When individuals with the disease reach adulthood they could begin to experience behavioral problems (hyperactivity, aggression). Patients could also experience difficulty walking and talking. Is Cri-Du-Chat Deadly? The life expectancy of patients with Cri-Du-Chat is generally the same as un-affected individuals. Life span can be reduced in a small number of patients. This is due to severe organ defects and other life-threatening problems that could arise. This disease is generally not fatal. Is there a way to prevent Cri-Du-Chat Syndrome? As of today, there is no specific way to prevent this syndrome. Couples that have a history of this disease, that are planning pregnancy, may want to consider genetic counseling. Is there a way to cure Cri-Du-Chat Syndrome? Currently, there is no cure for this disease. However, physicians can recommend parents to therapists for symptomatic treatment and/or management. Parents of patients with Cri-Du-Chat can visit a genetic counselors to see which parent is experiencing the change in chromosome 5. Is Cri-Du-Chat Syndrome manageable? While there is no specific therapy for this disease, speech therapy, early rehabilitation, and educational interventions help patients with Cri-Du-Chat Syndrome develop as normally as possible. Is there a support group for parents of patients? Due to the rarity of this disease there is a limited number of support groups for parents of patients with Cri-Du-Chat Syndrome, but there are some available. Parents may contact organizations such as: Cri du Chat Syndrome Support Group 383 Colorow Dr. Salt Lake City, Utah 84108 Phone: (801) 585-3470 Cri du Chat Support Group of Australia Inc. Tel: 0845 094 2725 Web: www.criduchat.org.uk Association number A0033602W 104 Yarralumla Drive, Langwarrin, VIC, 3910, Australia Phone or Fax: 61 3 9775 9962 (Wendy) |