Cri du Chat Syndrome

1. Cri du Chat Syndrome Queenie dela Cruz Olivia San Jose

2. Cri du Chat Syndrome • 5p-Syndrome • Cat's Cry Syndrome • Chromosome 5p-Syndrome • Le Jeune Syndrome • Partial Deletion of the Short Arm of Chromosome 5 Syndrome • Chromosome 5, Monosomy 5p

3. Type of Disorder • The Cri du Chat Syndrome is a rare chromosomal disorder where the short arm (p) of chromosome 5 is absent. • It is possible for a child to inherit a broken chromosome from a parent who also had the disorder. However, this is rare because most people with cri du chat do not survive into adulthood and therefore do not have children. • This disorder occurs in only 1 in 50,000 births. • In 80% of the cases, the chromosome carrying the deletion comes from the father's sperm rather than the mother's egg.

4. CHROMOSOME GRAPHIC

5. SYMPTOMSOF THE DISORDER • High-pitched cry sounds like a cat • Low birth weight and slow growth • Small head (microcephaly ) • Wide-set eyes (hypertelorism) • Downward slant to the eyes (palpebral fissures) • Small jaw (micrognathia ) • Low-set ears (may be malformed) • Skin tags just in front of the ear • Partial webbing or fusing of fingers or toes • Single line in the palm of the hand (simian crease ) • Mental retardation • Slow or incomplete development of motor skills

6. DIAGNOSTIC TESTING • Chromosome analysis provides the definitive diagnosis of cri du chat syndrome and can be performed from a blood test. Chromosome analysis, also called "karyotyping", involves staining the chromosomes and examining them under a microscope. In some cases the deletion of material from chromosome 5 can be easily seen. In other cases, further testing must be performed. FISH (fluorescence in-situ hybridization) is a special technique that detects very small deletions. The majority of the deletions that cause cri du chat syndrome can be identified using the FISH technique.

7. PROGNOSIS • Until recently, little was known about the cognitive function of patients. Recent literature indicates that many children can develop some language and motor skills. These children attain developmental and social skills observed in 5- to 6-year-old children, although their linguistic abilities are seldom as advanced. Older, home-reared children are usually ambulatory, able to communicate verbally or through gestural sign language, and are independent in self-care skills.

8. PROGNOSIS con’t • With contemporary interventions, the chance of survival to adulthood is possible. Currently, death occurs in 6-8% of the overall population affected with the syndrome. Pneumonia, aspiration pneumonia, congenital heart defects, and respiratory distress syndrome are the most common causes of death.

9. TREATMENT • Although there is no real treatment for cri-du-chat syndrome, children with the disorder can go through therapy to improve their language skills, motor skills, and to help them develop as normally as possible.

10. CURRENT RESEARCH • The effects of this syndrome on the child are extremely variable but almost all children with this syndrome have a degree of intellectual disability, delayed speech and language acquisition and slow development of motor skills. Although problematic behaviors are not uncommon, they are usually bright, loving and sociable children with a great sense of humor who occupy a valued position within their families and communities.

11. GENETIC COUNSELING • In 90% of patients with cri du chat syndrome, the deletion is sporadic. This means that it happens randomly and is not hereditary. If a child has cri du chat due to a sporadic deletion, the chance the parents could have another child with cri du chat is 1%. In approximately 10% of patients with cri du chat, there is a hereditary chromosomal rearrangement that causes the deletion. If a parent has this rearrangement, the risk for them to have a child with cri du chat is greater than 1%.

12. A GREAT STORY • Anne Zottlemoyer gave birth to Zoey, who had the Cri du Chat Syndrome. After being told that most of the babies born with the disease do not live past infancy, she was scared, but then, she found out that the severity of it differed from cases, and that there were others around the world that are still thriving with the disease. Zoey, fortunately, does not have any physical ailments, as of three weeks after birth.

13. CREDITS • http://dir.yahoo.com/Health/Diseases_and_Conditions/Genetic_Disorders/ • http://gslc.genetics.utah.edu/units/disorders/whataregd/cdc/index.cfm • http://health.enotes.com/genetic-disorders-encyclopedia/cri-du-chat-syndrome