SYNDROMIC CLASSIFICATION OF HEREDITARY LYMPHEDEMA

K.A. Northup, M.H. Witte, c.L. Witte

Since the late 1800’s, the familial occurrence ofperipheral lymphedema has been well-documented in Milroy and Meige syndromes. However, the presence of lymphe- dema in many other hereditary dysmorphic syndromes has not been fully appreciated. In order to establish more standardized and detailed clinical phenotypic criteria as the basis for rational classification and for greater precision in screening and genetic linkage studies, we conducted a comprehensive literature search and review of OMIM- identified and non-identified hereditary syndromes in which lymphedema was reported as a feature. Modes o f inheritance, associated clinical features and images, and specific organ involvement were inventoried and suggested pathophysiologic mechanisms noted. The findings support the recommendation Buy Doxycycline Online No Prescription that when peripheral lymphedema o f undetermined etiology is found, further careful, comprehen- sive clinical, including detailed dysmorphic, evaluation along with lymphatic imaging with subsequent syndromic classification is warranted. This information can provide clues to underlying pathogenesis and form the basis or genetic counseling and prognostication as well as offer guidance to the clinical investi- gator translating research at the molecular level into new approaches for evaluation and therapy.

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