Also known as Cat Cry Syndrome and 5p- syndrome, this is an extremely rare condition caused by the deletion of genetic material on the ‘p arm' (the small arm) of chromosome 5. It is not known what causes this rare chromosomal deletion. However, in most instances, the chromosome deletion or breakdown happens while the sperm or egg cell is still in the early stages of development.
The Crying Cat Syndrome is in fact so rare that it's very unlikely for a parent to get a second child having the same condition. According to the 5p minus Society estimates, about 50 to 60 children in the United States are born with this syndrome each year.
The clinical symptoms vary among individuals. Usually, they include a cat-like high-pitched cry, delayed development, mental retardation, small head size (microcephaly), distinctive facial features, widely-spaced eyes, weak muscle tone, and low birth weight in infancy. With time, the cat-like cry will generally become less apparent.
Most people affected by this syndrome experience language difficulty. About half of the children may learn adequate verbal skills to effectively communicate, while some others learn using short sentences. Others may express themselves using only a few basic words, sign language or gestures.
Other characteristics of 5p-Syndrome may include scoliosis, delays in walking, feeding difficulties, hyperactivity, and significant retardation. A minor percentage of the affected children get born with different serious organ defects as well as other conditions that could be life-threatening.
Making a proper diagnosis for a rare or genetic disease can in most cases be quite challenging. Typically, healthcare professionals look at the medical history of a person, the symptoms, conduct a physical exam, and carry out lab test results so as to make a comprehensive diagnosis.
Syndrome diagnosis is generally made at birth in the hospital. The most prominent clinical characteristic of the Crying Cat Syndrome is a cat-like cry in a newborn child. In addition, an analysis of the person's chromosomes may be carried out by the health facility. If the medical personnel deem it fit, they may want to perform more advanced tests.
The majority of the 5p- Syndrome cases are not genetic. Usually, the chromosomal deletion happens as a random event in early foetal development or during the eggs or sperm formation. Typically, people who get Cri du Chat have no family history of the rare condition.
While no specific treatment for the 5p- Syndrome is available, it is recommended that you initiate early intervention in the different aspects of physical therapy. This may include motor and physical milestones such as standing up and sitting, communication (sign language instruction and/or speech therapy), behavioural modification addressing short attention span, aggression and hyperactivity, as well as learning in the form of special education.
Older children and grownups with this condition that still experience speech challenges could benefit from a suitable communication device. Children that are born with this genetic condition will most likely need continuous support from a broad team composed of the parents, medical experts, educational professionals, and therapists, to help them achieve their maximum potential.
The majority of people born with the syndrome experience a normal life expectancy. However, a small proportion of children born with this condition do suffer from serious organ defects as well some other diverse life-threatening medical complications. Such children could have a worse prognosis. For such cases, the best approach would be to obtain information about life expectation from the physician attending the affected person. However, given the necessary support and attention, those afflicted with this rare syndrome can have a normal life expectancy.
Usually, both children and adults who have this syndrome are happy and friendly, and they enjoy social interaction. With early and ongoing educational intervention, along with language and physical therapy, children suffering from Cri du Chat or 5p- Syndrome can reach their maximum potential and lead meaningful lives, fulfilling lives as valued family and community members.