Hennekam syndrome is an autosomal recessive syndrome with lymphangiectasia, severe peripheral lymphedema, facial anomalies, seizures, mild growth retardation and variable mental retardation. Defective vascular and lymphatic development and consequent alteration in the fluid dynamics appear to disrupt critical events in craniofacial morphogenesis resulting in this phenotype.
Differential diagnosis of Hennekam syndrome include other rare syndromes associated with congenital lymphedema as: Noonan syndrome or Turner-like syndrome, Cholestasis lymphedema syndrome (CLS) or Aagenaes syndrome, Primary intestinal lymphangiectasia or Waldmann's disease, and hereditary lymphedema syndrome. Treatment of Hennekam syndrome includes medical and surgical procedures to control protein loss entropathy and lymphedema.