Smith-Lemli-Opitz syndrome is a hereditary developmental disorder. It is characterized by nostrils that tilt forward (anteverted nares), drooping eyelids, webbing between the second and third toes, male genital abnormalities, mental retardation, and small stature.
Related categories 2
Sites 4
- NORD: Smith Lemli Opitz Syndrome Offers a brief description, the synonyms and further resources.
- Smith-Lemli-Opitz/RSH Foundation Non-profit organization dedicated to supporting families, individuals and professionals dealing with this genetic disorder that affects the development of children both before and after birth.
- Emergency Medicine A article about Smith-Lemli-Opitz syndrome, a multiple congenital anomalies/mental retardation syndrome caused by a defect in cholesterol synthesis.
- GeneReviews: Smith-Lemli-Opitz Syndrome Summary, diagnosis, clinical description, differential diagnosis, management, genetic counseling and molecular genetics.