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An extremely rare syndromic lymphedema disorder characterized by four features which begin in early childhood and are progressive; hypotrichosis, lymphedema, variable telangiectasia particularly of the palms and renal defect. There is evidence that this syndrome is caused by heterozygous mutation in the SOX18 gene on chromosome 20q13.
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An extremely rare syndromic lymphoedema disorder characterised by four features which begin in early childhood and are progressive; hypotrichosis, lymphoedema, variable telangiectasia particularly of the palms and renal defect. There is evidence that this syndrome is caused by heterozygous mutation in the SOX18 gene on chromosome 20q13.
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