H syndrome
ORPHA: 168569
Overview
genetic condition
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with H syndrome, sourced from HPO and Orphanet clinical annotations.
AzoospermiaMicropenisAbnormality of the kidneyEnlarged kidneyHypogonadismCleft upper lipGingival overgrowthAmenorrheaHydrocephalusFull cheeksHearing impairmentProptosisAbnormal eyebrow morphologyGynecomastiaDiabetes mellitusDelayed pubertyHyperpigmentation of the skinIchthyosisHypertrichosisCorneal arcusMild intellectual disabilityHepatosplenomegalyAlopeciaPes planusHallux valgusMicrocytic anemiaRecurrent feverMalabsorptionBronchiectasisHypertriglyceridemiaChronic rhinitisVaricose veinsLymphadenopathyDelayed skeletal maturationRecurrent fracturesOsteolysisShort staturePsoriasiform dermatitisHyperreflexiaFacial telangiectasiaDecreased testicular sizeLipodystrophyAbnormal cardiovascular system physiologyCamptodactylyUpper eyelid edemaStiff skinSclerodermaHistiocytosisRecurrent pharyngitisHernia
Classification & Codes
Orphanet Code
ORPHA:168569H syndrome
| Orphanet | ORPHA:168569 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO