Kallmann syndrome
MeSH: D017436ORPHA: 478
Overview
form of hypogonadotropic hypogonadism which is also accompanied by a total lack or partial loss in the sense of smell. The condition affects people with XX or XY chromosomes and causes atypical puberty and infertility
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, sourced from HPO and Orphanet clinical annotations.
Hypogonadotropic hypogonadismMicropenisDecreased fertilityAnosmiaDelayed pubertyAnterior hypopituitarismGonadotropin-releasing hormone deficiencyHyposmiaDecreased testicular sizeHypoplasia of penisErectile dysfunctionCryptorchidismAbnormality of the voiceBreast hypoplasiaReduced bone mineral densityAbnormal morphology of female internal genitaliaRenal agenesisCleft palateSensorineural hearing impairmentVisual impairmentPtosisColor vision defectNystagmusGynecomastiaPrimary amenorrheaSeizureAtaxiaHypotoniaDysarthriaGait disturbanceMuscle weaknessBimanual synkinesiaTremorObesityPes cavusPes planusSkeletal dysplasiaDelayed skeletal maturationRecurrent fracturesIchthyosisTooth agenesisParaplegiaDyspareuniaAbnormal cardiovascular system morphology
Classification & Codes
MeSH Code
D017436Orphanet Code
ORPHA:478Kallmann syndrome
| MeSH | D017436 |
| Orphanet | ORPHA:478 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO