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.
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microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
MONDO:0007918
lymphatic malformation 1
MONDO:0007919
lymphatic malformation 5
MONDO:0007920
yellow nail syndrome
MONDO:0007921
lymphedema-distichiasis syndrome
MONDO:0007922
campomelia, Cumming type
MONDO:0008896