Congenital primary lymphedema of Gordon

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Congenital primary lymphedema of Gordon

Synonyms: VEGFC-related congenital primary lymphedema

A rare primary lymphedema characterized by bilateral painless lower limb swelling present at birth. Prominent veins around the ankles and on the dorsa of the feet dysplastic and upslanting toenails due to edema of the nailbed and subtle dysmorphic facial features (such as high forehead hypertelorism depressed nasal bridge mild bilateral ear dysplasia and short neck) have also been described. The degree of lymphatic impairment is milder than in the otherwise clinically similar Milroy disease as evidenced by slightly less severe lymphedema and significantly more uptake of tracers on lymphoscintigraphy.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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