Cri du Chat syndrome is a genetic disorder and is caused by a deletion on the short arm of chromosome 5. This affects the development of the individual and can result in various physical and mental characteristics. From an orthopedic point of view, the syndrome can often affect the skeletal system and lead to various orthopedic problems in the individual.
Cri du Chat syndrome is extremely rare, occurring in approximately one in 50,000 live births.
What are the symptoms?
Symptoms of Cri du Chat syndrome can include developmental delay, low birth weight, microcephaly (small head), low muscle tone (hypotonia), loud crying (similar to a cat’s meow), and distinctive features of the face and head shape. Orthopedically, problems such as scoliosis (curvature of the spine), joint contractures and bone anomalies are common.
How can parents recognize it?
Families should consult a pediatrician or geneticist if they notice signs of Cri du Chat syndrome in their baby. It is also important to consult an orthopedic specialist if symptoms such as orthopedic problems occur.
Do they have a type?
There is usually only one type of Cri du Chat syndrome, but the severity of symptoms and the manifestations can vary from individual to individual.
Cri du Chat Syndrome Treatment
Treatment involves symptom management and requires a multidisciplinary approach. Physiotherapy, speech therapy, special education and medical interventions are an important part of the treatment plan.
Do I need supportive devices, therapy?
Supportive devices may be needed to deal with orthopedic problems. For example, in the case of scoliosis, the use of a brace can be helpful. Therapies such as physiotherapy and speech therapy are also important to improve the individual’s quality of life.
In which cases and when is surgery performed?
Cri du Chat syndrome is a condition that usually does not require surgery. However, some orthopedic problems may require surgery. For example, in severe cases of scoliosis, spinal correction surgery may be considered.
What you need to know
Individuals with Cri du Chat syndrome may require lifelong follow-up and support. This can affect the life of the individual and their family and may require long-term care and resources. Regular orthopaedic assessments and interventions are important, as orthopaedic problems can affect the individual’s quality of life.