male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
ORPHA: 2234
Overview
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus
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 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome, sourced from HPO and Orphanet clinical annotations.
Small scrotumHypogonadismDecreased fertilityAtypical behaviorGynecomastiaIntellectual disabilityHemivertebraeAbnormal form of the vertebral bodiesEunuchoid habitusType II diabetes mellitusDecreased testicular sizeHypoplasia of penisShort neckAbnormal rib morphologyAbnormality of the thyroid glandObesitySparse body hairShort statureAbnormality of the humeroulnar joint
Classification & Codes
Orphanet Code
ORPHA:2234male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
| Orphanet | ORPHA:2234 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO