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Is apert syndrome autosomal or sexlinked?
Apert syndrome is a autosomal dominant genetic disorder, meaning that only one copy of the mutated gene from either parent is necessary to inherit the condition. It is not sex-linked.
What is syndactyly a symptom of?
Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome
How do you get Apert syndrome?
Apert syndrome is a genetic defect, so that means that the child will have it from conception (it's an autosomal dominant genetic defect, which means that only one parent needs to supply the defective gene in order for the child to be born with it.)
What other conditions could an infant with syndactyly have?
Syndactyly is a characteristic of Apert syndrome, Poland syndrome, Jarcho-Levin syndrome, oral-facial-digital syndrome, Pfeiffer syndrome, and Edwards syndrome.
When was Apert syndrome first discovered?
Apert Syndrome was first discovered by a French Physician named Eugene Apert in 1906 when he described nine different individuals with common characteristics and attributes.These patients were suffering from acrocephalosyndactyly, wherein the bone or skin between the toes and fingers fuses together because no selective cell death is taking place.
Is apert syndrome dominant or recessive?
Apert syndrome is typically caused by a sporadic mutation in the FGFR2 gene and is not inherited in a simple dominant or recessive manner. It is considered an autosomal dominant condition, with most cases arising from new mutations.
When did Eugène Apert die?
Eugène Apert died in 1940.
When was Eugène Apert born?
Eugène Apert was born in 1868.
What is apert syndrome?
Apert syndrome is a genetic disorder characterized by skull and limb abnormalities. It is caused by mutations in the FGFR2 gene and may result in fused bones in the skull, fingers, and toes, as well as other developmental issues. Treatment often involves surgery to address physical complications.
How is Apert syndrome diagnosed?
The characteristics of individuals with Aperts syndrome have the webbing of fingers and toes, or possibly, a cranial malformation, This webbing is caused by apoptosis, which is selective cell death, causing separation of the digits. With the head it is called cranialsynostosis. Some symptoms of cranialsynostosis is a high and prominent forehead with a flat posterior skull. Due to the premature closing of the coronal sutures, increased cranial pressure can develop as a result of deficient growth.They also have low set ears, shallow bony orbits and broadly spaced eyes.
What are the implications for apert syndrome?
Sporadic craniostenosis with oxycephaly and syndactyle sometimes polydactyle hands and feet often with blindness or visual impairment with proptosis and ophthalmoplegia..{taken from dictionary of medical eponyms} Alfieslittlegirl
Will a laboratory test for Down syndrome pick up marijuana in your system?
If the test for this syndrome is a blood test then, maybe. A blood test will detect marijuana. A urine test will also detect marijuana.
