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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.
What else can I help you with?
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.
Who discovered Wolfram syndrome?
Wolfram syndrome was first discovered by DJ Wolfram who was a US phycisian at the Mayo clinic
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.
Who discovered Jacobsen Syndrome?
Jacob's Syndrome, or XYY Syndrome was first discovered by cytogeneticists Joe Hin Tjio and Albert Levan.
Who discovered moebius syndrome?
Paul Moebius, a neurologist who first described the syndrome in 1888.
Who first discovered Morquio Syndrome?
Luis Morquio
Who discovered chronic fatigue syndrome?
It was first recognized as a syndrome in the 1860s by Dr. George Beard, who called it neurasthenia.
Where was cat eye syndrome discovered?
The abnormalities common to cat eye syndrome were first cataloged in 1898 in Germany.
When did Eugène Apert die?
Eugène Apert died in 1940.
