Bolze et al. (2012) noted that mutations in the SLC29A3 gene (612373) had been implicated in H syndrome, PHID, FHC, and SHML, and that some patients presented a combination of features from 2 or more of these syndromes, leading to the suggestion that [ncbi.nlm.nih.gov]

• Lymphadenopathy

  The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis [ncbi.nlm.nih.gov]

  A form of sinus histiocytosis characterized by lymphadenopathy as well as involvement of other tissues such as the sinus cavity, skin, lungs, bone, eyes, kidneys, testes, head and neck area and the central nervous system. [chemwatch.net]

• Pulmonary Valve Stenosis

  […] prolapse Patent ductus arteriosus Pulmonary arterial hypertension Pulmonary valve stenosis Varicose disease Ventricular septal defect Abnormality of the digestive system Hepatomegaly Hepatosplenomegaly IgG4-related retroperitoneal fibrosis Pancreatic [ncbi.nlm.nih.gov]

• Atrial Septal Defect

  septal defect Cardiomegaly Left superior vena cava draining to coronary sinus Mitral valve prolapse Patent ductus arteriosus Pulmonary arterial hypertension Pulmonary valve stenosis Varicose disease Ventricular septal defect Abnormality of the digestive [ncbi.nlm.nih.gov]

• Hypertension

  […] sedimentation rate Fever Abnormality of the breast Gynecomastia Abnormality of the cardiovascular system Atrial septal defect Cardiomegaly Left superior vena cava draining to coronary sinus Mitral valve prolapse Patent ductus arteriosus Pulmonary arterial hypertension [ncbi.nlm.nih.gov]

• Hepatomegaly

  […] defect Cardiomegaly Left superior vena cava draining to coronary sinus Mitral valve prolapse Patent ductus arteriosus Pulmonary arterial hypertension Pulmonary valve stenosis Varicose disease Ventricular septal defect Abnormality of the digestive system Hepatomegaly [ncbi.nlm.nih.gov]