Jackson-Weiss syndrome Flashcards

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1
Q

What are the symptoms of Jackson-Weiss syndrome?

A

Preaxial Foot polydactyl
Tarsal Synostosis
Fronttal bossing
Proptosis–> eyes squeezed out of the skull

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2
Q

What gene is involved in Jackson-Weiss syndrome?

A

FGFR2 gene

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3
Q

What is the inheritance pattern for Jackson-Weiss syndrome?

A

Autosomal dominant

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4
Q

What is the phenotype of the heterozygous?

A

They will express the symptoms of the disease

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