- Hemihypertrophy and macrocephaly
- Partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly
- Partial gigantism - nevi - hemihypertrophy - macrocephaly
News & Events
On this page
ORDR Co-Sponsored Conferences
2016 Rare Disease Day at NIH, Monday, February 29, 2016
Location: Building 10, Masur Auditorium, National Institutes of Health, Bethesda, MD
Description: The 2016 Rare Disease Day at NIH will take place on February 29. The event, sponsored by NCATS and the NIH Clinical Center, aims to raise awareness about rare diseases, the patients they affect and the research collaborations that are addressing rare disease challenges. The day will feature tours, posters and exhibits, and presentations.
AKT/PI3KCA Pathway-associated Mosaic Disorders, Wednesday, September 11, 2013 - Wednesday, September 11, 2013
Location: Building 45, NIH Campus, Bethesda, MD
Description: The goals of this workshop are to: (1.) Aggregate clinical and molecular data on patients from the groups to draw conclusions on the range of phenotypes and clinical delineation of the disorders. (2.) Develop consensus on clinical diagnostic categories, proper names for the entities, and molecular correlations. (3.) Propose an agenda for moving forward with considerations for both symptomatic and primary treatment.
David W. Smith Workshop on Malformations and Morphogenesis, Friday, September 09, 2011 - Wednesday, September 14, 2011
Location: UCLA Lake Arrowhead Conference Center, Lake Arrowhead , CA
Description: Themes for 2011; Mechanisms of normal and abnormal morphogenesis including insights from prenatal imaging; Somatic overgrowth; Brain overgrowth; Cortical dysplasia; Signaling pathways in morphogenesis; Angiogenesis and vascular malformations in genetic syndromes