Smith-Lemli-Opitz Syndrome

Question 1

What is the inheritance of SLO?

Answer 1

AR

Question 2

What are the most commonly observed features of SLO?

Answer 2

1. Characteristic facial features (narrow forehead, epicanthal folds, ptosis, short mandible with preservation of jaw width, short nose, anteverted nares, and low-set ears)
2. 2-3 syndactyly of the toes (minimal to Y-shaped)
3. Microcephaly
4. Growth retardation/short stature
5. Intellectual disability
6. Hypospadias in males
7. Cleft palate
8. Postaxial polydactyly