Please log in.

Lost your password?

Create an account

Join us today!

We're a fast growing community for individuals and families with rare genetic diseases. Come and be encouraged by others with stories like your own. If you would like to join us as a volunteer editor and help keep our pages up to date please navigate to our volunteer page.

Register

Recent Forum Activity

Avatar Image

alexa started the forum topic 'Feedback/Questions' (1209 days ago)

CES on PFOND

Cat Eye Syndrome, alternatively known as CES or Schmid-Faccaro Syndrome, is a phenotypically broad genetic disorder caused by one or more duplication(s) in Chromosome 22. Its hallmark characteristic is the cat-like appearance of the afflicted individual's eyes, although it does not make up the most frequent phenotype. The precise nature and cause of the duplication(s) is currently being researched.