Fast Five Quiz: Do You Know Key Signs and Symptoms of Rare Diseases?

Germaine L. Defendi, MD, MS; Emmanuel C. Besa, MD; Michael Stuart Bronze, MD

September 29, 2016

Aicardi syndrome is a genetic malformation syndrome diagnosed almost exclusively in females (46,XX). Genetic inheritance is due to a de novo X-linked dominant mutation. This syndrome is characterized by infantile spasms, total or partial agenesis of the corpus callosum, chorioretinal lacunae, and other ocular abnormalities. Other, less consistent characteristics include dysmorphic facies, cleft lip and palate, and vertebral body abnormalities. Most children have moderate to severe developmental delays.

For more on Aicardi syndrome, read here.

Editor's Recommendations Rare Diseases Resource Center Rare Diseases Perspective What Is a Rare Disease, Exactly?

Editor's Recommendations

1 2 3 4 5 6

Next Section

Any views expressed above are the author's own and do not necessarily reflect the views of WebMD or Medscape.

Cite this: Germaine L. Defendi, Emmanuel C. Besa, Michael Stuart Bronze. Fast Five Quiz: Do You Know Key Signs and Symptoms of Rare Diseases? - Medscape - Sep 29, 2016.

Comments

Commenting is limited to medical professionals. To comment please Log-in.

Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.