Cri-du-chat syndrome

Treatment

Is there a treatment(s) for Cri-du-chat syndrome?

Unfortunately, there is no treatment for the chromosome deletion that causes Cri-du-chat syndrome, and so Cri-du-chat syndrome cannot be cured. However, many of the symptoms of Cri-du-chat syndrome can be treated. In addition to regular primary care, individuals with Cri-du-chat syndrome should be seen by whichever specialists are relevant to whatever symptoms a given affected individual has. A medical geneticist or another physician familiar with Cri-du-chat syndrome can help ensure that the appropriate specialists are involved in the care of an individual with Cri-du-chat syndrome. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

It is extremely important for individuals with Cri-du-chat syndrome to receive early intervention services at as young an age as possible to address the developmental problems that are often present in Cri-du-chat syndrome. Regular, intensive interventions such as physical, occupational and speech therapy, plus any school supportive services for which an individual qualifies are critical to help maximize a child's development and learning. Individuals with Cri-du-chat syndrome often have behavioral, learning and developmental problems, including meeting developmental milestones later than peers. Individuals with Cri-du-chat syndrome who are able to get help with these skills early in life normally have better developmental and learning outcomes than those who do not.

Other physical symptoms of Cri-du-chat syndrome can also be treated. For example, if a child with Cri-du-chat syndrome is born with a heart problem, he or she may require surgery and/or medication and have ongoing follow-up with a cardiologist. Just after birth, babies with Cri-du-chat syndrome may experience breathing problems and require respiratory treatment. Children with Cri-du-chat syndrome may have vision problems and should be evaluated by ophthalmology as needed. Some individuals with Cri-du-chat syndrome require glasses for vision correction, while others require eye surgery for conditions such as strabismus (eyes not aligning properly).

Some people with Cri-du-chat syndrome experience skeletal problems, such as a curved spine (scoliosis) or flat foot (pes planus) and may benefit from evaluation or treatment by an orthopedist. People with Cri-du-chat syndrome may have hernias that may require surgery to correct, and/or separation of the muscles of the abdomen that may need special exercises to treat.

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What other tests or evaluations may be done to monitor the care of a child with Cri-du-chat syndrome?

What other tests or evaluations may be done to monitor the care of a child with Cri-du-chat syndrome?

The treatment in Cri-du-chat syndrome is symptomatic, aimed at treating whatever symptoms or health problems an individual person experiences. In addition to regular primary care, an individual with Cri-du-chat syndrome should be monitored for possible health problems associated with Cri-du-chat syndrome, including:

  • developmental, behavioral and learning problems, which may be best addressed by interventional therapies such as physical, occupational and speech therapy, as well as educational supports
  • heart problems, which may be diagnosed by imaging studies such as an echocardiogram (ultrasound of the heart) and managed by a cardiologist
  • breathing problems, especially right after birth, which may require treatment
  • vision or other eye problems, which may best be treated by an ophthalmologist
  • skeletal problems, such as a curved spine (scoliosis) or flat foot (pes planus), which may best be evaluated and treated by an orthopedist
  • hernias and/or separation of the muscles of the abdomen that may require surgical treatment or special exercises to treat
  • difficulty swallowing may require the assistance of a dietician
  • hearing problems may occur and will need the treatment of an audiologist
  • ophthalmologist to assess and treat eye problems

A medical geneticist or another physician familiar with Cri-du-chat syndrome can help ensure that the appropriate specialists are involved in the care of an individual with Cri-du-chat syndrome. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website .

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