Smith-Magenis Syndrome

Question 1

What is the genetic defect?

Answer 1

Deletion of chromosome 17p11.2

Question 2

What are the clinical manifestations of Smith-Magenis Syndrome?

Answer 2

1. MR
2. Speech delay
3. Self-injurious behavior
4. Sleep disturbance
5. Facial dysmorphisms (synophrys (unibrow), brachycephaly, frontal bossing, tented upper lip)
6. Hearing loss
7. Tooth agenesis