STAR Syndrome Flashcards
1
Q
What does STAR stand for?
A
Syndactyly
Telecanthus
Anogenital Malformations
Renal Malformations
2
Q
What are the symptoms of STAR syndrome?
A
Primarily affects women
Syndactyly–> webbed or conjoined fingers or toes (toes most affected)
Telecanthus–> increased distance between inner corners of eyes
Anogenital Malformations–> abnormal anogenital development.
- anal atresia (lack of anus)
- bicornuate (heart shaped) utuerus
- labial hypoplasia
Renal Malformations–> abnormal kidney function
- ectopic kidney
- renal agenesis
- renal insufficiency
Other:
- short stature
- cardiac septum defects
- facial abnormalities (lop ears; thin upper lips)
- hearing loss
- epilepsy possible
3
Q
What genes are involved in STAR syndrome?
A
Deletion on FAM58A gene (CCNQ gene)
4
Q
What is the inheritance pattern for STAR syndrome?
A
X-linked dominant
5
Q
What is the phenotype of this STAR syndrome?
A
Females have only been reported as it is thought to be lethal for male embryos.
