- Q What are the treatment options for cri du chat syndrome?
Cri du chat does not have a treatment regimen. Individuals with cri du chat syndrome will likely require care and support for their entire lives. Because this condition affects mental and physical development, children with cri du chat syndrome may... Full Answer
- Q What are the symptoms of cri du chat syndrome?
Symptoms of cri du chat syndrome include both mental and physical disabilities and distinct abnormal body features. Perhaps the most noticeable symptom is the high-pitched cry that sounds like the cry of a cat. This symptom is noticeable at birth and... Full Answer
- Q What causes cri du chat syndrome?
Cri du chat syndrome is caused by a missing piece of chromosome 5. This missing part is called a "deletion." The deletion can be of varying sizes, resulting in different symptoms. A deletion occurs when a DNA molecule in the chromosome of either the egg... Full Answer
- Q Can Smith-Magenis Syndrome be prevented?
Smith-Magenis Syndrome (SMS) is a genetic condition characterized by physical, cognitive, and behavioral abnormalities. SMS is an unpredictable and randomly occurring condition that has no identifiable risk factors or causes. There is no known... Full Answer
- Q How is Smith-Magenis Syndrome diagnosed?
Smith-Magenis Syndrome (SMS) is diagnosed by clinical examination and genetic testing. A complete pediatric examination is the first step in identifying a child with SMS. A child having the characteristic appearance and traits of SMS will undergo genetic... Full Answer
- Q What causes Smith-Magenis Syndrome?
Smith-Magenis Syndrome is a genetic condition that results from a spontaneous gene mutation early on in the development of a fetus. The involved chromosome, chromosome 17, undergoes a spontaneous deletion of a few dozen genes at a specific part of the... Full Answer
- Q What increases the risk for Smith-Magenis Syndrome?
Smith-Magenis Syndrome is a genetic condition that has no known risk factors. The cause of SMS is due to an unpredictable genetic mutation that happens during early fetal development. There is no identified risk factor that is responsible for this random... Full Answer