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Apert Disease
Transcript
Apert Syndrome
By: Alex Kelly, Sam Heinecke, Jack Larson
History
- Discovered in the early 20th century or 1906.
- Belongs to a group of conditions known as "craniosynostoses."
- Craniosynostoses is a condition in which an infant skull prematurely fuses by turning into bone.
- Eugéne Apert, a french physician discovered it.
Effect on Body Function
- Abnormally shaped skull that tends to be long, but short from front to back and wide with retruded or flat forehead and brow.
- Hands and feet are symmetric in appearance with a range of effects varying in severity.
Pattern of Inheritance
- Autosomal Dominant Pattern
- Usually starts in families with no history of the disorder.
- But can be passed down to offspring.
Chromosomal Location
- Mutation in gene where the gene produces a protein fibroblast growth factor receptor 2.
- This protein signals immature cells to become bone cells.
- Mutation found on chromosome 10.
Description
- genetic disorder
- characterized by the premature fusion of certain skull bones.
- This fusion prevents the skull from growing normally.
Symptoms
- Prominent or Bulging eyes
- Possible, slow intellectual development
- Webbing on the 2nd, 3rd, and 4th fingers.
- Sunken middle face.
- Fused Toes
- Teeth, skull malformations
Treatment
Apert syndrome has no known cure. Surgery to correct the abnormal connections between bones is the main treatment for Apert syndrome.
Frequency Among Human Births
- effects an estimated 1 in 65,000 to 88,000 newborns.
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