Preferred Label : H syndrome;
ICD-11 definition : H syndrome is a genodermatosis due to mutations of the SLC29A3 gene and is characterized
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.;
Origin ID : 107155297;
Automatic exact mappings (from CISMeF team)
H syndrome is a genodermatosis due to mutations of the SLC29A3 gene and is characterized
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.
