Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
ORPHA: 2250
Overview
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism
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 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome, sourced from HPO and Orphanet clinical annotations.
CataractTooth malpositionExternal genital hypoplasiaHyposmiaFailure of eruption of permanent teethHypoplasia of penisAplasia of the noseSingle narisHypoplasia of the olfactory bulbAbsent naresCryptorchidismHypogonadotropic hypogonadismHypoplasia of the maxillaChoanal atresiaAnophthalmiaMicrophthalmiaVisual lossIris colobomaBlindnessAmblyopiaGynecomastiaAbdominal wall muscle weaknessAplasia/Hypoplasia involving the noseCleft palateSubmucous cleft hard palateBifid uvulaOptic atrophyDacryocystoceleInguinal herniaHypogonadismAbnormal midface morphologyAnosmia
Classification & Codes
Orphanet Code
ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
| Orphanet | ORPHA:2250 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO