Syndromes with Obesity

Philip L. Beales and Raoul Hennekam

in Genetics of Obesity Syndromes

Published on behalf of Oxford University Press

Published in print July 2009 | ISBN: 9780195300161
Published online October 2012 | e-ISBN: 9780199975198 | DOI:

Series: Oxford Monographs on Medical Genetics

Syndromes with Obesity

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  • Endocrinology and Diabetes


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A recent edition of the Winter-Baraitser Dysmorphology Database listed 154 syndromes with generalized obesity, of which at least 100 also featured mental retardation (see Appendix for full list). Some of the better-characterized conditions have been discussed in other chapters; however, there are a few worthy of mention here. For most, either there is little known of their pathogenesis or the underlying genes have yet to be identifi e. This chapter will categorize these according to their likely genetic etiology. Autosomal Obesity Syndromes such as Biemond syndrome type 2 (BS2), Edwards Syndrome, Kabuki syndrome, Macrosomia, Obesity, Macrocephaly, and Ocular Abnormalities, Rubinstein-Taybi Syndrome, SIM1, Tyrosine Receptor Kinase B, and Ulnar-Mammary Syndrome are discussed. There is a relatively large group of X-linked disorders, each of which is associated with learning impairment/mental retardation. Many of these may eventually prove to be allelic variants of common genes; therefore, we concentrate on those conditions for which the evidence points to separate entities. Finally we briefly discuss the association of chromosomal aberrations with obesity.

Chapter.  8683 words.  Illustrated.

Subjects: Clinical Genetics ; Endocrinology and Diabetes

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