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Thread: Apert's Syndrome Pictures - Pediatric cases

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    Default Apert's Syndrome Pictures - Pediatric cases

    Causes of Apert Syndrome
    Apert syndrome is caused by a rare mutation on a single gene. This mutated gene is normally responsible for guiding bones to join together at the right time during development. In almost all cases, the Apert syndrome gene mutation seems to be random. Only about one in 65,000 babies is born with Apert syndrome.

    Apert Syndrome Symptoms
    The defective gene in babies with Apert syndrome allows the skull bones to fuse together prematurely, a process called craniosynostosis. The brain continues to grow inside the abnormal skull, putting pressure on the bones in the skull and face.

    Apert Syndrome Diagnosis
    Doctors often suspect Apert syndrome or another craniosynostosis syndrome at birth because of a newborn's appearance. Genetic testing can usually identify Apert syndrome or another cause of abnormal skull formation.

    Apert Syndrome Treatments
    Apert syndrome has no known cure. Surgery to correct the abnormal connections between bones is the main treatment for Apert syndrome.

    In general, surgery for Apert syndrome takes place in three steps:

    Release of skull bone fusion (craniosynostosis release). A surgeon separates the abnormally fused skull bones and partially rearranges some of them. This surgery is usually performed when a child is between ages 6 and 8 months.

    Apert Syndrome Prognosis
    Children with Apert syndrome usually require surgery for release of the skull bones to allow a chance for the brain to develop normally. The older a child is before this surgery is performed, the lower the chance for reaching normal intellectual ability. Even with early surgery, certain brain structures may remain poorly developed, however.

    In general, children who are raised by their parents have a better chance of achieving normal intellectual ability. About four in 10 children with Apert syndrome who are raised in a healthy family environment reach a normal intelligence quotient (IQ). Among Apert syndrome children who are institutionalized, only about one in 18 achieves a normal IQ. In one study, three of 136 children with Apert syndrome eventually attended college.
    Apert's Syndrome Pictures Pediatric cases attachment.php?s=d05b3de60667f4fb6128935ffaa50b81&attachmentid=1757&d=1441141367

    Apert Syndrome Prognosis continued...
    Children with Apert syndrome and other similar conditions who have normal IQs do not seem to have an increased risk of behavioral or emotional problems. However, they may require additional social and emotional support to help cope with their condition. Children with Apert syndrome with lower IQs often do have behavioral and emotional problems.

    There can be wide variability between children with Apert syndrome, with some severely affected, and others only mildly affected. Experts are unsure why the same gene mutation can result in such variation in a child's Apert syndrome prognosis.

    Life expectancy also varies between children with Apert syndrome. Those with Apert syndrome who survive past childhood and don't have heart problems likely have a normal or near-normal life expectancy. Life expectancy is likely improving because of advances in surgical techniques and follow-up care.

    What is Apert syndrome?
    Apert syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).
    Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Early fusion of the skull bones also affects the development of the brain, which can disrupt intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability.
    Individuals with Apert syndrome have webbed or fused fingers and toes. The severity of the fusion varies; at a minimum, three digits on each hand and foot are fused together. In the most severe cases, all of the fingers and toes are fused. Less commonly, people with this condition may have extra fingers or toes (polydactyly). Additional signs and symptoms of Apert syndrome can include hearing loss, unusually heavy sweating (hyperhidrosis), oily skin with severe acne, patches of missing hair in the eyebrows, fusion of spinal bones in the neck (cervical vertebrae), and recurrent ear infections that may be associated with an opening in the roof of the mouth (a cleft palate).

    What genes are related to Apert syndrome?
    Mutations in the FGFR2 gene cause Apert syndrome. This gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which can promote the premature fusion of bones in the skull, hands, and feet.

    Apert syndrome - Genetics Home Reference
    Apert Syndrome: Prognosis, Symptoms, Treatments, and More

    Last edited by Medical Photos; 09-01-2015 at 09:02 PM.

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