H syndrome
MONDO:0011273A 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).
Also known as: Asrar Facharzt Haque syndrome, H syndrome, Faisalabad histiocytosis, HJCD, Rosai-Dorfman disease, familial, SLC29A3 spectrum disorder, histiocytosis and lymphadenopathy with or without cutaneous, Cardiac, and/or endocrine features, Joint contractures, and/or deafness, histiocytosis with Joint contractures and sensorineural deafness
12 clinical trials for this condition and its sub-types.
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New pill shows promise for rare childhood diseases
Disease control Recruiting nowThis phase 2 trial is testing the drug mirdametinib in 40 people aged 2 and older with Langerhans cell histiocytosis or similar disorders. The goal is to see if this oral medication works better and has fewer side effects than current treatments. Participants take the drug twice …
Phase: PHASE2 • Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Disease control
Last updated Jun 26, 2026 18:37 UTC
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AI learns to see inside your throat: new tool could catch disease early
Diagnosis Recruiting nowThis study is developing an artificial intelligence system that can recognize different parts of the throat and nasal passages and detect abnormal growths or lesions. Researchers will train the AI using thousands of endoscopy images and then test its accuracy against doctors with…
Sponsor: Ruijin Hospital • Aim: Diagnosis
Last updated Jun 27, 2026 08:10 UTC
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Music before surgery: a simple tune to calm nerves?
Symptom relief Recruiting nowThis study tests whether a 20-minute session of passive music therapy, delivered through an app just before entering the operating room, can lower anxiety and pain in adults undergoing ear, nose, or throat surgery. Five hundred participants will be randomly assigned to receive mu…
Phase: NA • Sponsor: Clinique Saint-Vincent • Aim: Symptom relief
Last updated Jun 27, 2026 11:02 UTC
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500 patients needed to unlock secrets of rare histiocytic disorders
Knowledge-focused Recruiting nowThis study at Mayo Clinic will collect medical histories and blood, fluid, or tissue samples from 500 people with histiocytic disorders. Researchers will analyze these samples for molecular markers like BRAF V600E and PD-L1 to better understand the diseases. The goal is to gather…
Sponsor: Mayo Clinic • Aim: Knowledge-focused
Last updated Aug 06, 2026 00:00 UTC