Affected individuals may be of normal birth weight but skeletal growth is subnormal and there is general developmental delay. Congenial cardiac anomalies such as persistent ductus arteriosus may be present. Lymphedema has been noted at one year of age and probably persists throughout life. Protein-losing enteropathy secondary to intestinal lymphangiectasia was present in one individual. The same patient had pericardial effusion, hydrothorax, and ascites. Intellectual disability may be severe although there is no evidence of progression. Neurosensory hearing loss has been described in one patient.
Thrombocytopenia is a consistent finding and has been described as early as one year of age. Platelet numbers as low as 52,000/microL have been recorded and appear larger than normal.
