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).
MONDO:0005015
diabetes mellitus
excluded_subClassOf
MONDO:0005147
type 1 diabetes mellitus
excluded_subClassOf
MONDO:0004382
laryngeal disorder
is_a
MONDO:0006412
sinus histiocytosis with massive lymphadenopathy
is_a
MONDO:0019289
hyperpigmentation of the skin
is_a
MONDO:0100118
hereditary skin disorder
is_a
Asrar Facharzt Haque syndrome
exact
H syndrome
exact
HJCD
related
SLC29A3 spectrum disorder
related