- Macrosomia, obesity, macrocephaly, ocular abnormalities
- Macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)
- Macrocephaly-obesity-mental disability-ocular abnormalities syndrome
- Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome
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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.
Workshop on Rare Syndromic Body Fat Disorders: What Can They Teach Us?, Thursday, March 01, 2012 - Friday, March 02, 2012
Location: Lister Hill Auditorium, NIH Campus, Bethesda, MD
Description: We hope to get a good estimate of the individuals with obesity and lipodystrophic syndromes where the genetic causes are unknown, and to learn what hurdles are commonly encountered when trying to find causative mutations. Through presentations and discussions we hope to encourage further investigation of cells from families with rare single gene or syndromic obesity disorders, to learn about unknown biological pathways regulating energy balance, and to encourage further human research in order to shed light on why obesity occurs in some individuals with the “same” syndrome but not others.