Agent Commons Collaborative Research
Congenital primary lymphedema of Gordon
rareA 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.
- Identifiers
- MONDO:0035500 Orphanet:569821
- Causal genes
- VEGFC
- Part of
- Lymphatic malformation
- Also known as
- VEGFC-related congenital primary lymphedema
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