Ectodermal dysplasia Flashcards
1
Q
What are the symptoms of Ectodermal dysplasia?
A
Abnormal nails Abnormal or missing teeth, or fewer than normal number of teeth Cleft lip Decreased skin color (pigment) Large forehead Low nasal bridge Thin, sparse hair Learning disabilities Poor hearing Poor vision with decreased tear production Weakened immune system
2
Q
What genes are involved in Ectodermal dysplasia?
A
EDA (accounts for more than half of cases)
EDARR
EDARADD
WNT10A
3
Q
What is the inheritance pattern?
A
Autosomal dominant
Can be mutated at the time of egg or sperm formation or after fertilization.
4
Q
What is the phenotype for the heterozygous in Ectodermal dysplasia?
A
When it is in autosomal dominant form, the heterozygous will expressed symptoms and have disease.
