Muenke Syndrome Flashcards
1
Q
What are the symptoms of Muenke Syndrome?
A
Abnormal head shape
Wide-spaced eyes
Flattened cheekbones
Characterized by premature closing of the corona suture of the skull (coronal craniosynostosis) during development
Developmental delay
Hearing loss
Limb abnormalities
Macroencephaly
2
Q
What genes are involved in Muenke Syndrome?
A
FGFR3 gene–> point mutation
3
Q
What is the inheritance pattern for Muenke syndrome?
A
Autosomal dominant
4
Q
What is the phenotype for heterozygous in Meunke Syndrome?
A
The syndrome will be inherited and symptoms are displayed/exprressed.
