Catalog

Hermansky-Pudlak syndrome

No MMS code

Link to WHO Definition

Hermansky-Pudlak syndrome – http://id.who.int/icd/entity/2089801290

Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterised by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropaenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.