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H syndrome
rareA 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).
- Identifiers
- MONDO:0011273 OMIM:602782Orphanet:168569
- Causal genes
- SLC29A3
- Part of
- Hereditary skin disorderHyperpigmentation of the skinLaryngeal disorderSinus histiocytosis with massive lymphadenopathy
- Also known as
- Asrar Facharzt Haque syndrome · HJCD · SLC29A3 spectrum disorder
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