Cri du Chat Syndrome (5p-)
Cri du Chat Syndrome, also known as 5p- Syndrome
Rare chromosomal disorder affecting 1 in 50,000 live births. Refers to a unique combination of both physical and mental characteristics caused by a loss of genetic material on the short arm of the fifth chromosome, occurring during meiosis. Critical deleted region is 5p15.2 for "Classic Cri du Chat Syndrome," however many individuals show deletions that involve more than the 5p15.2 region. Most occurrences are "sporadic," wherein parental chromosomes are normal. 10% of cases are inherit unbalanced translocated set of chromosomes from one of the parents who is a carrier.
Description, Signs and Symptoms
Distinguishing Characteristics - Main diagnostic feature is the high-pitched monochromatic "cat-like" cry that is always present in newborns; Asymmetrical face (moon shaped face) with a small jaw (micrognathia); wide spread eyes (hypertelorism); extra fold of skin at the inner corners of the eyes (epicanthal folds); flattened and widened nasal bridge; ears that are positioned low on the head; simian crease on palm of hand; small head circumference.
Developmental Delays - Varied delays in gross and fine motor skills from severe to mild-moderate; expressive speech and language delays are prevalent; some children are able to use short sentences; others express themselves through sign language, communication devices, gestures and a few basic words; poor muscle tone is common and can attribute to many problems including feeding difficulties, sucking, walking, potty training and writing; slow growth associated with failure to thrive (many children are at or around the 5% of normal growth chart and continue to grow at the 5% rate throughout childhood); constipation occurs in approximately 70% of the children in infancy and remains a problem in childhood and adolescence
Growth and Development - Birth weight for an infant with CDCS is low, although its length may be normal; life expectancy of an individual with CDCS cannot be predicted. Many individuals live normal lives. Young adults may have premature graying. Most children walk, although at a slower pace and with a guarded gait, majority of children do not achieve toliet training. Many children and adults have sleep issues. Some children have visual problems and require corrective lens or surgery to correct problem. Reflux is common with children who have CDCS. Severe hearing problems are rare, but 80% of children have a hearing condition known as hyperacusis (hypersensitivity to noise). Children with CDCS undergo typical changes in puberty at the appropriate age. Females anywhere from 11-18 and males from 12-21 years. Many children have seizures from Gran mal to silent. Very few adults are able to work with supervision. Even fewer adults are able to live independently.
Treatment and Management
AccessDNA.com - Cri du Chat syndrome
5p- Society