What is the life expectancy of someone with Apert syndrome?
What is the life expectancy of someone with Apert syndrome?
Life expectancy for an individual with Apert syndrome is normal; however, some of the health problems associated with the syndrome can lead to complicated disease and a premature death.
What is Apert?
Apert syndrome is a rare genetic condition that is apparent at birth. People with Apert syndrome can have distinctive malformations of the skull, face, hands, and feet. Apert syndrome is characterized by craniosynostosis, a condition in which the fibrous joints (sutures) between bones of the skull close prematurely.
Is syndactyly a disability?
Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability. Individuals with Apert syndrome have syndactyly of the fingers and toes . The severity of the fusion varies, although the hands tend to be more severely affected than the feet.
Why can’t Apert be cured?
Apert syndrome has no known cure. Surgery to correct the abnormal connections between bones is the main treatment for Apert syndrome.
What is Crouzon syndrome?
Crouzon syndrome is a rare genetic disorder. It is a form of craniosynostosis, a condition in which there is premature fusion of the fibrous joints (sutures) between certain bones of the skull. The sutures allow an infant’s head to grow and expand. Eventually, these bones fuse together to form the skull.
Why do my two fingers stuck together?
What is syndactyly? Syndactyly is a condition in which children are born with fused or webbed fingers. About half of children with syndactyly have it in both hands (bilateral). Most of the time, syndactyly affects the fingers.
What are the symptoms syndactyly?
The main symptom of syndactyly is webbed fingers or toes. The condition can range from minor webbing at the base of the digits to being joined by underlying bones. Patients may also notice that the affected fingers or toes do not move well.
What is the history of Apert syndrome?
Apert syndrome appears to affect males and females in relatively equal numbers. Since the disorder was originally described in the medical literature in 1894 (Wheaton SW) and 1906 (Apert E), over 300 cases have been reported. The disorder is estimated to occur in about one in 165,000 to 200,000 births .
Are there prenatal tests for Apert syndrome?
In some instances, features of Apert syndrome may be detected before birth. This would be done through prenatal 2D or 3D ultrasound or magnetic resonance imaging (MRI). An ultrasound is a noninvasive procedure that can see an image of the fetus.
How is Apert syndrome inherited?
Apert syndrome is caused by a change (mutation) in the FGFR2 gene. It is inherited in an autosomal dominant manner, but many cases result from a new mutation in a person with no family history of the disorder (a de novo mutation).