Jackson-Weiss syndrome Flashcards
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
2
Q
What gene is involved in Jackson-Weiss syndrome?
A
FGFR2 gene
3
Q
What is the inheritance pattern for Jackson-Weiss syndrome?
A
Autosomal dominant
4
Q
What is the phenotype of the heterozygous?
A
They will express the symptoms of the disease