Catalog

H syndrome

No MMS code

Link to WHO Definition

H syndrome – http://id.who.int/icd/entity/107155297

H syndrome is a genodermatosis due to mutations of the SLC29A3 gene and is characterised by progressive sclerodermatous thickening of the skin, with overlying hyperpigmentation and hypertrichosis. It primarily affects the thighs, with variable involvement of the genitalia, lower trunk, and limbs. Systemic findings of hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism and low height give H syndrome its name.