An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to

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autosomaal recessieve aplasia cutis

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A form of congenital disorders of N-linked glycosylation that is characterised by gastrointestinal symptoms (diarrhoea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), oedema and ascites (including hydrops fetalis), he

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'asparagine-linked' congenitaal defect in glycosylering type 1H

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Cardiac asthma Left heart failure Oedema of lung | Pulmonary oedema | with mention of heart disease NOS or heart failure

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longoedeemmet vermelding van hartziekte NNO of hartdecompensatie | pulmonaal oedeemmet vermelding van hartziekte NNO of hartdecompensatie | asthma cardiale | linksdecompensatie

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Disorders of conjunctiva

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aandoeningen van conjunctiva

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Conjunctiva

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conjunctiva

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