H syndrome

A systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

Also known as: Asrar Facharzt Haque syndrome, H syndrome, Faisalabad histiocytosis, HJCD, Rosai-Dorfman disease, familial, SLC29A3 spectrum disorder, histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness, histiocytosis with Joint contractures and sensorineural deafness

31 clinical trials for this condition and its sub-types.