Kallmann syndrome-heart disease syndrome
ORPHA: 2326
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 Kallmann syndrome-heart disease syndrome, sourced from HPO and Orphanet clinical annotations.
Hypogonadotropic hypogonadismIntellectual disabilityTotal anosmiaMicropenisRenal agenesisCleft palateShort lingual frenulumSensorineural hearing impairmentDelayed pubertyOsteopeniaOsteoporosisCyanosisGrowth delayDilated cardiomyopathyDouble outlet right ventricleDelayed skeletal maturationShort staturePulmonary artery hypoplasiaBilateral cryptorchidismDecreased testicular sizePartial anosmiaAnomalous origin of left coronary artery from the pulmonary arteryRight aortic archHeart murmurCongestive heart failureMitral regurgitationAortic regurgitationMidgut malrotationPulmonic regurgitation
Classification & Codes
Orphanet Code
ORPHA:2326Kallmann syndrome-heart disease syndrome
| Orphanet | ORPHA:2326 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO