What’s Christian Syndrome?

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Christian syndrome is a rare genetic disorder that causes deformities in the thumbs, palate, and arms, as well as developmental disabilities and mental retardation. There is no cure, and treatment is focused on managing symptoms and complications such as pneumonia. Cranial surgery may be an option to minimize developmental problems.

Christian syndrome is a disease that manifests itself in children as deformities of the thumbs, palate and arms. The rare disease is also referred to as craniostenosis arthrogryposis cleft palate and recessive form of adducted thumb syndrome. Children with this disorder develop at a much slower rate than normal and are often diagnosed with mental retardation. There is no cure for Christian syndrome, and most patients die in infancy, many within the first few months of life. Since there are no treatments for the disease itself, the only treatments available are those that treat the other medical conditions that arise as a result of Christian syndrome.

The disease tends to run in families and is considered a recessive genetic disorder. Children with the syndrome are usually diagnosed at birth and most die in infancy. Visually evident symptoms of Christian syndrome include thumbs adducted, cleft palate, cranial abnormalities, and defects of the bones and joints of the upper extremities. These children are often diagnosed with breathing difficulties, such as pneumonia, and are prone to having seizures. Children with this disorder are considered to have developmental disabilities and are often diagnosed with mental retardation.

For the most part, there is no treatment available for Christian syndrome; only its symptoms can be treated. The only treatments available are supportive measures aimed at keeping the patient as comfortable as possible by dealing with illnesses and problems as they arise. For example, many affected children will undergo extensive aspiration prevention and respiratory care to prevent the onset of pneumonia, along with other related complications. In some cases, cranial surgery may be an option, as it helps in some circumstances to prolong life and minimize some of the child’s developmental problems.

Many children diagnosed with Christian syndrome have small skulls, which are characteristic of this disease. Because the skull is small, as the baby grows, the brain is limited in how much it can expand. This restriction on the brain causes more severe mental retardation and sensory disturbances. Through surgery, the skull bone can be reshaped to allow the brain to grow without being inhibited, thus minimizing these problems. Babies who require this surgery often have the procedure between four and seven months after birth.

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