Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder that occurs for no apparent reason. Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate. Mental retardation, loss of muscle tone, and streaks of skin lacking color are often present.
Related categories 1
Includes biographies and photos of children with the syndrome, first-hand information from parents, and links to related support and equipment resources.
National Library of Medicine
The synonyms of chromosome 12p tetrasomy syndrome, a summary and a list of major features.
An online support group, with a discussion forum, family photos and informal surveys.
Last update:May 18, 2016 at 10:45:07 UTC